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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

  Error connecting to IGV?   OPHN1_chrX_68037344_68438495  OPHN1_chrX_68037344_68438495 (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 4983
ensemblid ENSG00000079482.14
hgncid 8148
symbol OPHN1
name oligophrenin 1
refseq_nuc NM_002547.3
refseq_prot NP_002538.1
ensembl_nuc ENST00000355520.6
ensembl_prot ENSP00000347710.5
mane_status MANE Select
chr chrX
start 68042344
end 68433495
strand -
ver v1.2
region chrX:68042344-68433495
region5000 chrX:68037344-68438495
regionname0 OPHN1_chrX_68042344_68433495
regionname5000 OPHN1_chrX_68037344_68438495

ahapid grch38/
chm13v2 		alen total AFR AMR EAS EUR SAS JPT regionname genename aa chr start end
a0001 1/0 802 151 53 26 48 7 16 34 OPHN1_chrX_68037344_68438495 OPHN1 copy fasta chrX 68037344 68438495
a0002 0/1 802 2 0 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 copy fasta chrX 68037344 68438495
a0003 0/0 802 1 1 0 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 copy fasta chrX 68037344 68438495
a0004 0/0 782 1 0 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 copy fasta chrX 68037344 68438495

chapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
c0001 1/0 2409 149 53 26 48 7 14 OPHN1_chrX_68037344_68438495 OPHN1 copy fasta chrX 68037344 68438495
c0002 0/1 2409 2 0 1 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 copy fasta chrX 68037344 68438495
c0003 0/0 2409 2 0 0 0 0 2 OPHN1_chrX_68037344_68438495 OPHN1 copy fasta chrX 68037344 68438495
c0004 0/0 2409 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 copy fasta chrX 68037344 68438495
c0005 0/0 2407 1 0 1 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 copy fasta chrX 68037344 68438495

thapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
t0001 1/0 5161 61 0 13 34 4 9 OPHN1_chrX_68037344_68438495 OPHN1 copy fasta chrX 68037344 68438495
t0002 0/0 5160 24 14 1 9 0 0 OPHN1_chrX_68037344_68438495 OPHN1 copy fasta chrX 68037344 68438495
t0003 0/1 5162 18 11 3 0 1 2 OPHN1_chrX_68037344_68438495 OPHN1 copy fasta chrX 68037344 68438495
t0004 0/0 5161 11 9 2 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 copy fasta chrX 68037344 68438495
t0005 0/0 5160 6 6 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 copy fasta chrX 68037344 68438495
t0006 0/0 5160 5 3 2 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 copy fasta chrX 68037344 68438495
t0007 0/0 5162 4 4 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 copy fasta chrX 68037344 68438495
t0008 0/0 5161 2 2 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 copy fasta chrX 68037344 68438495
t0009 0/0 5162 2 1 1 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 copy fasta chrX 68037344 68438495
t0010 0/0 5160 2 0 0 0 0 2 OPHN1_chrX_68037344_68438495 OPHN1 copy fasta chrX 68037344 68438495
t0011 0/0 5160 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 copy fasta chrX 68037344 68438495
t0012 0/0 5163 1 0 1 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 copy fasta chrX 68037344 68438495
t0013 0/0 5163 1 0 1 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 copy fasta chrX 68037344 68438495
t0014 0/0 5162 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 copy fasta chrX 68037344 68438495
t0015 0/0 5159 1 0 1 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 copy fasta chrX 68037344 68438495
t0016 0/0 5159 1 0 0 0 0 1 OPHN1_chrX_68037344_68438495 OPHN1 copy fasta chrX 68037344 68438495
t0017 0/0 5160 1 0 1 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 copy fasta chrX 68037344 68438495
t0018 0/0 5161 1 0 0 0 1 0 OPHN1_chrX_68037344_68438495 OPHN1 copy fasta chrX 68037344 68438495
t0019 0/0 5161 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 copy fasta chrX 68037344 68438495
t0020 0/0 5161 1 0 1 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 copy fasta chrX 68037344 68438495
t0021 0/0 5161 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 copy fasta chrX 68037344 68438495
t0022 0/0 5160 1 0 1 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 copy fasta chrX 68037344 68438495
t0023 0/0 5162 1 0 0 0 0 1 OPHN1_chrX_68037344_68438495 OPHN1 copy fasta chrX 68037344 68438495
t0024 0/0 5162 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 copy fasta chrX 68037344 68438495
t0025 0/0 5161 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 copy fasta chrX 68037344 68438495
t0026 0/0 5162 1 0 0 0 0 1 OPHN1_chrX_68037344_68438495 OPHN1 copy fasta chrX 68037344 68438495
t0027 0/0 5161 1 0 0 0 1 0 OPHN1_chrX_68037344_68438495 OPHN1 copy fasta chrX 68037344 68438495
t0028 0/0 5160 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 copy fasta chrX 68037344 68438495
t0029 0/0 5160 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 copy fasta chrX 68037344 68438495
t0030 0/0 5162 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 copy fasta chrX 68037344 68438495

ghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
g0001 0/1 1 0 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0002 0/0 1 0 1 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0003 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0004 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0005 0/0 1 0 1 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0006 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0007 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0008 0/0 1 0 1 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0009 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0010 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0011 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0012 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0013 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0014 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0015 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0016 0/0 1 0 1 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0017 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0018 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0019 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0020 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0021 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0022 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0023 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0024 0/0 1 0 1 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0025 0/0 1 0 0 0 1 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0026 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0027 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0028 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0029 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0030 0/0 1 0 1 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0031 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0032 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0033 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0034 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0035 0/0 1 0 1 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0036 0/0 1 0 1 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0037 0/0 1 0 0 0 0 1 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0038 0/0 1 0 0 0 0 1 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0039 0/0 1 0 0 0 0 1 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0040 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0041 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0042 0/0 1 0 1 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0043 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0044 0/0 1 0 0 0 0 1 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0045 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0046 0/0 1 0 1 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0047 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0048 0/0 1 0 0 0 0 1 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0049 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0050 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0051 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0052 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0053 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0054 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0055 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0056 0/0 1 0 0 0 0 1 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0057 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0058 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0059 0/0 1 0 1 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0060 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0061 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0062 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0063 0/0 1 0 0 0 0 1 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0064 0/0 1 0 1 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0065 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0066 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0067 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0068 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0069 0/0 1 0 0 0 1 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0070 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0071 0/0 1 0 1 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0072 0/0 1 0 0 0 1 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0073 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0074 0/0 1 0 1 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0075 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0076 0/0 1 0 1 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0077 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0078 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0079 0/0 1 0 0 0 1 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0080 0/0 1 0 0 0 0 1 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0081 0/0 1 0 0 0 0 1 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0082 0/0 1 0 0 0 0 1 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0083 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0084 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0085 0/0 1 0 0 0 0 1 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0086 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0087 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0088 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0089 0/0 1 0 0 0 0 1 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0090 0/0 1 0 1 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0091 0/0 1 0 0 0 1 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0092 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0093 0/0 1 0 1 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0094 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0095 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0096 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0097 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0098 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0099 0/0 1 0 1 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0100 0/0 1 0 1 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0101 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0102 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0103 0/0 1 0 1 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0104 0/0 1 0 0 0 1 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0105 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0106 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0107 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0108 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0109 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0110 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0111 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0112 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0113 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0114 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0115 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0116 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0117 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0118 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0119 0/0 1 0 0 0 0 1 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0120 0/0 1 0 1 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0121 0/0 1 0 1 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0122 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0123 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0124 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0125 0/0 1 0 1 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0126 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0127 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0128 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0129 0/0 1 0 1 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0130 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0131 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0132 0/0 1 0 1 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0133 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0134 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0135 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0136 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0137 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0138 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0139 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0140 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0141 0/0 1 0 1 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0142 1/0 1 0 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0143 0/0 1 0 0 0 0 1 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0144 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0145 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0146 0/0 1 0 0 0 0 1 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0147 0/0 1 0 1 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0148 0/0 1 0 1 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0149 0/0 1 0 0 0 1 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0150 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0151 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0152 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0153 0/0 1 0 0 0 0 1 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0154 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
g0155 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495

achapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
a0001c0001 1/0 2409 149 53 26 48 7 14 OPHN1_chrX_68037344_68438495 OPHN1 copy fasta chrX 68037344 68438495
a0001c0003 0/0 2409 2 0 0 0 0 2 OPHN1_chrX_68037344_68438495 OPHN1 copy fasta chrX 68037344 68438495
a0002c0002 0/1 2409 2 0 1 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 copy fasta chrX 68037344 68438495
a0003c0004 0/0 2409 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 copy fasta chrX 68037344 68438495
a0004c0005 0/0 2407 1 0 1 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 copy fasta chrX 68037344 68438495

acthapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
a0001c0001t0001 1/0 7569 60 0 12 34 4 9 OPHN1_chrX_68037344_68438495 OPHN1 copy fasta chrX 68037344 68438495
a0001c0001t0002 0/0 7568 24 14 1 9 0 0 OPHN1_chrX_68037344_68438495 OPHN1 copy fasta chrX 68037344 68438495
a0001c0001t0003 0/0 7570 17 11 3 0 1 2 OPHN1_chrX_68037344_68438495 OPHN1 copy fasta chrX 68037344 68438495
a0001c0001t0004 0/0 7569 11 9 2 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 copy fasta chrX 68037344 68438495
a0001c0001t0005 0/0 7568 6 6 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 copy fasta chrX 68037344 68438495
a0001c0001t0006 0/0 7568 5 3 2 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 copy fasta chrX 68037344 68438495
a0001c0001t0007 0/0 7570 4 4 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 copy fasta chrX 68037344 68438495
a0001c0001t0008 0/0 7569 2 2 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 copy fasta chrX 68037344 68438495
a0001c0001t0009 0/0 7570 2 1 1 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 copy fasta chrX 68037344 68438495
a0001c0001t0011 0/0 7568 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 copy fasta chrX 68037344 68438495
a0001c0001t0013 0/0 7571 1 0 1 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 copy fasta chrX 68037344 68438495
a0001c0001t0015 0/0 7567 1 0 1 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 copy fasta chrX 68037344 68438495
a0001c0001t0016 0/0 7567 1 0 0 0 0 1 OPHN1_chrX_68037344_68438495 OPHN1 copy fasta chrX 68037344 68438495
a0001c0001t0017 0/0 7568 1 0 1 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 copy fasta chrX 68037344 68438495
a0001c0001t0018 0/0 7569 1 0 0 0 1 0 OPHN1_chrX_68037344_68438495 OPHN1 copy fasta chrX 68037344 68438495
a0001c0001t0019 0/0 7569 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 copy fasta chrX 68037344 68438495
a0001c0001t0020 0/0 7569 1 0 1 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 copy fasta chrX 68037344 68438495
a0001c0001t0021 0/0 7569 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 copy fasta chrX 68037344 68438495
a0001c0001t0022 0/0 7568 1 0 1 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 copy fasta chrX 68037344 68438495
a0001c0001t0023 0/0 7570 1 0 0 0 0 1 OPHN1_chrX_68037344_68438495 OPHN1 copy fasta chrX 68037344 68438495
a0001c0001t0024 0/0 7570 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 copy fasta chrX 68037344 68438495
a0001c0001t0025 0/0 7569 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 copy fasta chrX 68037344 68438495
a0001c0001t0026 0/0 7570 1 0 0 0 0 1 OPHN1_chrX_68037344_68438495 OPHN1 copy fasta chrX 68037344 68438495
a0001c0001t0027 0/0 7569 1 0 0 0 1 0 OPHN1_chrX_68037344_68438495 OPHN1 copy fasta chrX 68037344 68438495
a0001c0001t0028 0/0 7568 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 copy fasta chrX 68037344 68438495
a0001c0001t0029 0/0 7568 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 copy fasta chrX 68037344 68438495
a0001c0001t0030 0/0 7570 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 copy fasta chrX 68037344 68438495
a0001c0003t0010 0/0 7568 2 0 0 0 0 2 OPHN1_chrX_68037344_68438495 OPHN1 copy fasta chrX 68037344 68438495
a0002c0002t0001 0/0 7569 1 0 1 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 copy fasta chrX 68037344 68438495
a0002c0002t0003 0/1 7570 1 0 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 copy fasta chrX 68037344 68438495
a0003c0004t0014 0/0 7570 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 copy fasta chrX 68037344 68438495
a0004c0005t0012 0/0 7569 1 0 1 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 copy fasta chrX 68037344 68438495

actghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
a0001c0001t0001g0008 0/0 1 0 1 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0001g0009 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0001g0015 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0001g0016 0/0 1 0 1 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0001g0017 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0001g0025 0/0 1 0 0 0 1 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0001g0027 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0001g0028 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0001g0029 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0001g0038 0/0 1 0 0 0 0 1 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0001g0039 0/0 1 0 0 0 0 1 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0001g0040 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0001g0041 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0001g0043 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0001g0044 0/0 1 0 0 0 0 1 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0001g0045 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0001g0046 0/0 1 0 1 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0001g0048 0/0 1 0 0 0 0 1 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0001g0049 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0001g0050 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0001g0051 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0001g0052 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0001g0053 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0001g0058 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0001g0059 0/0 1 0 1 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0001g0060 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0001g0062 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0001g0064 0/0 1 0 1 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0001g0066 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0001g0067 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0001g0068 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0001g0069 0/0 1 0 0 0 1 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0001g0070 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0001g0071 0/0 1 0 1 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0001g0073 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0001g0074 0/0 1 0 1 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0001g0075 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0001g0077 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0001g0078 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0001g0079 0/0 1 0 0 0 1 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0001g0080 0/0 1 0 0 0 0 1 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0001g0082 0/0 1 0 0 0 0 1 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0001g0086 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0001g0088 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0001g0090 0/0 1 0 1 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0001g0092 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0001g0093 0/0 1 0 1 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0001g0097 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0001g0098 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0001g0132 0/0 1 0 1 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0001g0140 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0001g0141 0/0 1 0 1 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0001g0142 1/0 1 0 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0001g0143 0/0 1 0 0 0 0 1 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0001g0145 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0001g0146 0/0 1 0 0 0 0 1 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0001g0147 0/0 1 0 1 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0001g0149 0/0 1 0 0 0 1 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0001g0153 0/0 1 0 0 0 0 1 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0001g0154 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0002g0006 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0002g0014 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0002g0019 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0002g0021 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0002g0047 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0002g0054 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0002g0055 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0002g0057 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0002g0083 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0002g0108 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0002g0114 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0002g0115 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0002g0116 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0002g0123 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0002g0124 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0002g0125 0/0 1 0 1 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0002g0126 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0002g0127 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0002g0130 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0002g0131 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0002g0133 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0002g0134 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0002g0135 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0002g0144 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0003g0018 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0003g0020 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0003g0035 0/0 1 0 1 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0003g0063 0/0 1 0 0 0 0 1 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0003g0065 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0003g0076 0/0 1 0 1 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0003g0081 0/0 1 0 0 0 0 1 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0003g0091 0/0 1 0 0 0 1 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0003g0100 0/0 1 0 1 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0003g0101 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0003g0109 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0003g0111 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0003g0113 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0003g0118 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0003g0122 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0003g0139 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0003g0151 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0004g0004 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0004g0005 0/0 1 0 1 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0004g0010 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0004g0011 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0004g0012 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0004g0026 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0004g0030 0/0 1 0 1 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0004g0034 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0004g0094 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0004g0095 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0004g0117 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0005g0107 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0005g0110 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0005g0136 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0005g0137 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0005g0138 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0005g0152 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0006g0013 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0006g0105 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0006g0106 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0006g0120 0/0 1 0 1 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0006g0121 0/0 1 0 1 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0007g0022 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0007g0023 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0007g0032 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0007g0033 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0008g0096 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0008g0112 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0009g0128 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0009g0129 0/0 1 0 1 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0011g0061 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0013g0042 0/0 1 0 1 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0015g0148 0/0 1 0 1 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0016g0119 0/0 1 0 0 0 0 1 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0017g0036 0/0 1 0 1 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0018g0104 0/0 1 0 0 0 1 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0019g0003 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0020g0099 0/0 1 0 1 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0021g0150 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0022g0103 0/0 1 0 1 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0023g0037 0/0 1 0 0 0 0 1 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0024g0007 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0025g0087 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0026g0056 0/0 1 0 0 0 0 1 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0027g0072 0/0 1 0 0 0 1 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0028g0084 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0029g0031 0/0 1 0 0 1 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0001t0030g0155 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0003t0010g0085 0/0 1 0 0 0 0 1 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0001c0003t0010g0089 0/0 1 0 0 0 0 1 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0002c0002t0001g0002 0/0 1 0 1 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0002c0002t0003g0001 0/1 1 0 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0003c0004t0014g0102 0/0 1 1 0 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
a0004c0005t0012g0024 0/0 1 0 1 0 0 0 OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495

sampleid ID
haplotypeid
 ahapid chapid thapid ghapid gpopname popname regionname genename chr start end
HG00099 hp1 a0001 c0001 t0027 g0072 EUR GBR OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG00099 hp2 a0001 c0001 t0003 g0091 EUR GBR OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG00140 hp1 a0001 c0001 t0001 g0069 EUR GBR OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG00280 hp1 a0001 c0001 t0018 g0104 EUR FIN OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG00609 hp1 a0001 c0001 t0001 g0050 EAS CHS OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG00621 hp1 a0001 c0001 t0001 g0051 EAS CHS OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG00642 hp1 a0001 c0001 t0001 g0071 AMR PUR OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG00673 hp1 a0001 c0001 t0002 g0047 EAS CHS OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG00735 hp1 a0001 c0001 t0001 g0093 AMR PUR OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG00735 hp2 a0001 c0001 t0004 g0005 AMR PUR OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG00738 hp1 a0001 c0001 t0020 g0099 AMR PUR OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG01069 hp1 a0001 c0001 t0001 g0132 AMR PUR OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG01074 hp1 a0001 c0001 t0001 g0141 AMR PUR OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG01081 hp1 a0001 c0001 t0022 g0103 AMR PUR OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG01081 hp2 a0001 c0001 t0004 g0030 AMR PUR OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG01099 hp1 a0001 c0001 t0003 g0035 AMR PUR OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG01106 hp1 a0001 c0001 t0003 g0100 AMR PUR OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG01167 hp1 a0001 c0001 t0006 g0121 AMR PUR OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG01169 hp1 a0001 c0001 t0006 g0120 AMR PUR OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG01169 hp2 a0004 c0005 t0012 g0024 AMR PUR OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG01192 hp1 a0001 c0001 t0003 g0076 AMR PUR OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG01243 hp1 a0001 c0001 t0009 g0129 AMR PUR OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG01255 hp1 a0001 c0001 t0002 g0125 AMR CLM OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG01256 hp1 a0001 c0001 t0001 g0016 AMR CLM OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG01258 hp1 a0001 c0001 t0001 g0074 AMR CLM OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG01261 hp1 a0001 c0001 t0001 g0059 AMR CLM OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG01346 hp1 a0001 c0001 t0001 g0008 AMR CLM OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG01346 hp2 a0001 c0001 t0013 g0042 AMR CLM OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG01358 hp1 a0002 c0002 t0001 g0002 AMR CLM OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG01433 hp1 a0001 c0001 t0001 g0090 AMR CLM OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG01515 hp1 a0001 c0001 t0001 g0025 EUR IBS OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG01891 hp1 a0001 c0001 t0002 g0133 AFR ACB OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG01891 hp2 a0001 c0001 t0004 g0117 AFR ACB OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG01928 hp1 a0001 c0001 t0001 g0046 AMR PEL OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG01934 hp1 a0001 c0001 t0001 g0147 AMR PEL OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG01943 hp1 a0001 c0001 t0015 g0148 AMR PEL OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG01952 hp1 a0001 c0001 t0017 g0036 AMR PEL OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG02015 hp1 a0001 c0001 t0001 g0060 EAS KHV OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG02027 hp1 a0001 c0001 t0002 g0123 EAS KHV OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG02055 hp1 a0001 c0001 t0004 g0034 AFR ACB OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG02056 hp1 a0001 c0001 t0001 g0088 EAS KHV OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG02071 hp1 a0001 c0001 t0001 g0077 EAS KHV OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG02074 hp1 a0001 c0001 t0002 g0006 EAS KHV OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG02083 hp1 a0001 c0001 t0001 g0028 EAS KHV OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG02129 hp1 a0001 c0001 t0001 g0058 EAS KHV OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG02132 hp1 a0001 c0001 t0002 g0144 EAS KHV OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG02135 hp1 a0001 c0001 t0001 g0052 EAS KHV OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG02145 hp1 a0001 c0001 t0002 g0115 AFR ACB OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG02257 hp1 a0001 c0001 t0008 g0096 AFR ACB OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG02257 hp2 a0001 c0001 t0002 g0021 AFR ACB OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG02258 hp1 a0001 c0001 t0003 g0139 AFR ACB OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG02280 hp1 a0001 c0001 t0003 g0018 AFR ACB OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG02280 hp2 a0001 c0001 t0004 g0011 AFR ACB OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG02300 hp1 a0001 c0001 t0001 g0064 AMR PEL OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG02451 hp1 a0001 c0001 t0009 g0128 AFR ACB OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG02451 hp2 a0001 c0001 t0004 g0010 AFR ACB OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG02572 hp1 a0001 c0001 t0003 g0118 AFR GWD OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG02602 hp1 a0001 c0001 t0001 g0038 SAS PJL OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG02615 hp1 a0001 c0001 t0003 g0109 AFR GWD OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG02615 hp2 a0001 c0001 t0003 g0065 AFR GWD OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG02630 hp1 a0001 c0001 t0006 g0013 AFR GWD OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG02630 hp2 a0001 c0001 t0005 g0152 AFR GWD OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG02647 hp1 a0001 c0001 t0006 g0106 AFR GWD OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG02683 hp1 a0001 c0001 t0016 g0119 SAS PJL OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG02683 hp2 a0001 c0001 t0001 g0146 SAS PJL OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG02698 hp1 a0001 c0001 t0001 g0039 SAS PJL OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG02717 hp1 a0001 c0001 t0005 g0136 AFR GWD OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG02723 hp1 a0001 c0001 t0003 g0101 AFR GWD OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG02723 hp2 a0001 c0001 t0003 g0113 AFR GWD OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG02735 hp1 a0001 c0003 t0010 g0085 SAS PJL OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG02738 hp1 a0001 c0001 t0001 g0048 SAS PJL OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG02809 hp1 a0001 c0001 t0003 g0020 AFR GWD OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG02809 hp2 a0001 c0001 t0019 g0003 AFR GWD OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG02818 hp1 a0001 c0001 t0005 g0137 AFR GWD OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG02818 hp2 a0001 c0001 t0008 g0112 AFR GWD OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG02886 hp1 a0003 c0004 t0014 g0102 AFR GWD OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG02886 hp2 a0001 c0001 t0006 g0105 AFR GWD OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG02895 hp1 a0001 c0001 t0030 g0155 AFR GWD OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG02922 hp1 a0001 c0001 t0002 g0114 AFR ESN OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG02922 hp2 a0001 c0001 t0004 g0012 AFR ESN OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG02965 hp1 a0001 c0001 t0002 g0131 AFR ESN OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG02976 hp1 a0001 c0001 t0005 g0138 AFR ESN OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG02976 hp2 a0001 c0001 t0003 g0111 AFR ESN OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG03017 hp1 a0001 c0001 t0001 g0080 SAS PJL OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG03098 hp1 a0001 c0001 t0002 g0014 AFR MSL OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG03130 hp1 a0001 c0001 t0007 g0032 AFR ESN OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG03139 hp1 a0001 c0001 t0002 g0130 AFR ESN OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG03209 hp1 a0001 c0001 t0004 g0094 AFR MSL OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG03225 hp1 a0001 c0001 t0002 g0126 AFR MSL OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG03490 hp1 a0001 c0001 t0001 g0143 SAS PJL OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG03492 hp1 a0001 c0001 t0003 g0081 SAS PJL OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG03516 hp1 a0001 c0001 t0004 g0095 AFR ESN OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG03516 hp2 a0001 c0001 t0002 g0108 AFR ESN OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG03540 hp1 a0001 c0001 t0002 g0127 AFR GWD OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG03540 hp2 a0001 c0001 t0005 g0110 AFR GWD OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG03579 hp1 a0001 c0001 t0002 g0116 AFR MSL OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG03688 hp1 a0001 c0003 t0010 g0089 SAS STU OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG03710 hp1 a0001 c0001 t0001 g0082 SAS PJL OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG03942 hp1 a0001 c0001 t0001 g0044 SAS BEB OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG04115 hp1 a0001 c0001 t0023 g0037 SAS STU OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG04199 hp1 a0001 c0001 t0003 g0063 SAS STU OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG04228 hp1 a0001 c0001 t0001 g0153 SAS STU OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
NA18522 hp1 a0001 c0001 t0003 g0151 AFR YRI OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
NA18612 hp1 a0001 c0001 t0002 g0124 EAS CHB OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
NA18747 hp1 a0001 c0001 t0001 g0043 EAS CHB OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
NA18906 hp1 a0001 c0001 t0004 g0026 AFR YRI OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
NA18906 hp2 a0001 c0001 t0002 g0135 AFR YRI OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
NA18943 hp1 a0001 c0001 t0025 g0087 EAS JPT OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
NA18944 hp1 a0001 c0001 t0001 g0145 EAS JPT OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
NA18945 hp1 a0001 c0001 t0001 g0049 EAS JPT OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
NA18948 hp1 a0001 c0001 t0002 g0083 EAS JPT OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
NA18952 hp1 a0001 c0001 t0001 g0067 EAS JPT OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
NA18960 hp1 a0001 c0001 t0001 g0092 EAS JPT OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
NA18962 hp1 a0001 c0001 t0029 g0031 EAS JPT OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
NA18965 hp1 a0001 c0001 t0001 g0040 EAS JPT OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
NA18966 hp1 a0001 c0001 t0001 g0140 EAS JPT OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
NA18970 hp1 a0001 c0001 t0001 g0097 EAS JPT OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
NA18971 hp1 a0001 c0001 t0001 g0017 EAS JPT OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
NA18974 hp1 a0001 c0001 t0001 g0053 EAS JPT OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
NA18977 hp1 a0001 c0001 t0001 g0075 EAS JPT OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
NA18982 hp1 a0001 c0001 t0011 g0061 EAS JPT OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
NA18983 hp1 a0001 c0001 t0002 g0055 EAS JPT OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
NA18986 hp1 a0001 c0001 t0002 g0054 EAS JPT OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
NA18988 hp1 a0001 c0001 t0001 g0029 EAS JPT OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
NA18990 hp1 a0001 c0001 t0001 g0066 EAS JPT OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
NA18994 hp1 a0001 c0001 t0001 g0027 EAS JPT OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
NA18995 hp1 a0001 c0001 t0001 g0009 EAS JPT OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
NA19000 hp1 a0001 c0001 t0024 g0007 EAS JPT OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
NA19004 hp1 a0001 c0001 t0001 g0015 EAS JPT OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
NA19005 hp1 a0001 c0001 t0001 g0154 EAS JPT OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
NA19007 hp1 a0001 c0001 t0001 g0041 EAS JPT OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
NA19009 hp1 a0001 c0001 t0001 g0062 EAS JPT OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
NA19012 hp1 a0001 c0001 t0002 g0057 EAS JPT OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
NA19030 hp1 a0001 c0001 t0007 g0033 AFR LWK OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
NA19030 hp2 a0001 c0001 t0007 g0022 AFR LWK OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
NA19043 hp1 a0001 c0001 t0003 g0122 AFR LWK OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
NA19056 hp1 a0001 c0001 t0001 g0070 EAS JPT OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
NA19060 hp1 a0001 c0001 t0001 g0086 EAS JPT OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
NA19066 hp1 a0001 c0001 t0001 g0068 EAS JPT OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
NA19068 hp1 a0001 c0001 t0001 g0073 EAS JPT OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
NA19070 hp1 a0001 c0001 t0028 g0084 EAS JPT OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
NA19085 hp1 a0001 c0001 t0001 g0045 EAS JPT OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
NA19088 hp1 a0001 c0001 t0001 g0078 EAS JPT OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
NA20752 hp1 a0001 c0001 t0001 g0079 EUR TSI OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
NA20805 hp1 a0001 c0001 t0001 g0149 EUR TSI OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
NA20905 hp1 a0001 c0001 t0026 g0056 SAS GIH OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG02109 hp1 a0001 c0001 t0004 g0004 AFR ACB OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG02109 hp2 a0001 c0001 t0002 g0019 AFR ACB OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG02486 hp1 a0001 c0001 t0005 g0107 AFR ACB OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG02559 hp1 a0001 c0001 t0007 g0023 AFR ACB OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG02559 hp2 a0001 c0001 t0002 g0134 AFR ACB OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
HG03471 hp1 a0001 c0001 t0021 g0150 AFR MSL OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
NA18955 hp1 a0001 c0001 t0001 g0098 EAS JPT OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
homoSapiens_chm13v2 hp1 a0002 c0002 t0003 g0001 REF REF OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495
homoSapiens_grch38 hp1 a0001 c0001 t0001 g0142 REF REF OPHN1_chrX_68037344_68438495 OPHN1 chrX 68037344 68438495

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
chrX:68052588 A
A
 C
C
 1 a0004
a0004
 1 HG01169.hp2
HG01169.hp2
 missense_variant&splice_region_variant MODERATE c.2327T>G
c.2327T>G
 p.Val776Gly
p.Val776Gly
 OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 23/25 2659/7569 2327/2409 776/802 chrX 68052588
chrX:68053689 CT
CT
 C
C
 1 a0004
a0004
 1 HG01169.hp2
HG01169.hp2
 frameshift_variant HIGH c.2279delA
c.2279delA
 p.Lys760fs
p.Lys760fs
 OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 22/25 2611/7569 2279/2409 760/802 chrX 68053689
chrX:68053705 TG
TG
 T
T
 1 a0004
a0004
 1 HG01169.hp2
HG01169.hp2
 frameshift_variant HIGH c.2263delC
c.2263delC
 p.Gln755fs
p.Gln755fs
 OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 22/25 2595/7569 2263/2409 755/802 chrX 68053705
chrX:68063933 C
C
 T
T
 1 a0003
a0003
 1 HG02886.hp1
HG02886.hp1
 missense_variant MODERATE c.2079G>A
c.2079G>A
 p.Met693Ile
p.Met693Ile
 OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 21/25 2411/7569 2079/2409 693/802 chrX 68063933
chrX:68432906 C
C
 T
T
 1 a0002
a0002
 2 HG01358.hp1
homoSapiens_chm13v2.hp1
HG01358.hp1
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.115G>A
c.115G>A
 p.Val39Ile
p.Val39Ile
 OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/25 447/7569 115/2409 39/802 chrX 68432906

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
chrX:68213880 C
C
 T
T
 1 a0001c0003
a0001c0003
 2 HG02735.hp1
HG03688.hp1
HG02735.hp1
HG03688.hp1
 synonymous_variant LOW c.579G>A
c.579G>A
 p.Lys193Lys
p.Lys193Lys
 OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 7/25 911/7569 579/2409 193/802 chrX 68213880

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
chrX:68042543 A
A
 G
G
 1 a0001c0001t0025
a0001c0001t0025
 1 NA18943.hp1
NA18943.hp1
 3_prime_UTR_variant MODIFIER c.*4629T>C
c.*4629T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 25/25 5881 chrX 68042543
chrX:68042602 C
C
 CA
CA
 1 a0004c0005t0012
a0004c0005t0012
 1 HG01169.hp2
HG01169.hp2
 3_prime_UTR_variant MODIFIER c.*4569dupT
c.*4569dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 25/25 5821 chrX 68042602
chrX:68042665 T
T
 C
C
 1 a0001c0001t0020
a0001c0001t0020
 1 HG00738.hp1
HG00738.hp1
 3_prime_UTR_variant MODIFIER c.*4507A>G
c.*4507A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 25/25 5759 chrX 68042665
chrX:68042814 G
G
 A
A
 1 a0001c0003t0010
a0001c0003t0010
 2 HG02735.hp1
HG03688.hp1
HG02735.hp1
HG03688.hp1
 3_prime_UTR_variant MODIFIER c.*4358C>T
c.*4358C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 25/25 5610 chrX 68042814
chrX:68042887 G
G
 C
C
 1 a0001c0001t0021
a0001c0001t0021
 1 HG03471.hp1
HG03471.hp1
 3_prime_UTR_variant MODIFIER c.*4285C>G
c.*4285C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 25/25 5537 chrX 68042887
chrX:68043061 A
A
 G
G
 1 a0001c0001t0028
a0001c0001t0028
 1 NA19070.hp1
NA19070.hp1
 3_prime_UTR_variant MODIFIER c.*4111T>C
c.*4111T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 25/25 5363 chrX 68043061
chrX:68043093 C
C
 T
T
 2 a0001c0001t0015
a0001c0001t0017
a0001c0001t0015
a0001c0001t0017
 2 HG01943.hp1
HG01952.hp1
HG01943.hp1
HG01952.hp1
 3_prime_UTR_variant MODIFIER c.*4079G>A
c.*4079G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 25/25 5331 chrX 68043093
chrX:68043122 C
C
 CA
CA
 1 a0004c0005t0012
a0004c0005t0012
 1 HG01169.hp2
HG01169.hp2
 3_prime_UTR_variant MODIFIER c.*4049dupT
c.*4049dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 25/25 5301 chrX 68043122
chrX:68043233 A
A
 AG
AG
 2 a0001c0001t0024
a0004c0005t0012
a0001c0001t0024
a0004c0005t0012
 2 HG01169.hp2
NA19000.hp1
HG01169.hp2
NA19000.hp1
 3_prime_UTR_variant MODIFIER c.*3938dupC
c.*3938dupC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 25/25 5190 chrX 68043233
chrX:68043378 AAG
AAG
 A
A
 2 a0001c0001t0015
a0001c0001t0016
a0001c0001t0015
a0001c0001t0016
 2 HG01943.hp1
HG02683.hp1
HG01943.hp1
HG02683.hp1
 3_prime_UTR_variant MODIFIER c.*3792_*3793delCT
c.*3792_*3793delCT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 25/25 5044 chrX 68043378
chrX:68043379 AG
AG
 A
A
 10 a0001c0001t0002
a0001c0001t0005
a0001c0001t0006
others(7): Show 
a0001c0001t0002
a0001c0001t0005
a0001c0001t0006
a0001c0001t0008
a0001c0001t0011
a0001c0001t0017
a0001c0001t0022
a0001c0001t0028
a0001c0001t0029
a0001c0003t0010
 44 HG00673.hp1
HG01081.hp1
HG01167.hp1
others(41): Show 
HG00673.hp1
HG01081.hp1
HG01167.hp1
HG01169.hp1
HG01255.hp1
HG01891.hp1
HG01952.hp1
HG02027.hp1
HG02074.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02486.hp1
HG02559.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02717.hp1
HG02735.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
NA18612.hp1
NA18906.hp2
NA18948.hp1
NA18962.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA19012.hp1
NA19070.hp1
 3_prime_UTR_variant MODIFIER c.*3792delC
c.*3792delC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 25/25 5044 chrX 68043379
chrX:68043380 G
G
 A
A
 7 a0001c0001t0003
a0001c0001t0007
a0001c0001t0009
others(4): Show 
a0001c0001t0003
a0001c0001t0007
a0001c0001t0009
a0001c0001t0013
a0001c0001t0030
a0002c0002t0003
a0003c0004t0014
 27 HG00099.hp2
HG01099.hp1
HG01106.hp1
others(24): Show 
HG00099.hp2
HG01099.hp1
HG01106.hp1
HG01192.hp1
HG01243.hp1
HG01346.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02886.hp1
HG02895.hp1
HG02976.hp2
HG03130.hp1
HG03492.hp1
HG04199.hp1
NA18522.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*3792C>T
c.*3792C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 25/25 5044 chrX 68043380
chrX:68043380 G
G
 GA
GA
 1 a0001c0001t0026
a0001c0001t0026
 1 NA20905.hp1
NA20905.hp1
 3_prime_UTR_variant MODIFIER c.*3791dupT
c.*3791dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 25/25 5043 chrX 68043380
chrX:68043387 A
A
 AG
AG
 1 a0001c0001t0013
a0001c0001t0013
 1 HG01346.hp2
HG01346.hp2
 3_prime_UTR_variant MODIFIER c.*3784_*3785insC
c.*3784_*3785insC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 25/25 5036 chrX 68043387
chrX:68043387 A
A
 G
G
 7 a0001c0001t0003
a0001c0001t0007
a0001c0001t0008
others(4): Show 
a0001c0001t0003
a0001c0001t0007
a0001c0001t0008
a0001c0001t0009
a0001c0001t0030
a0002c0002t0003
a0003c0004t0014
 28 HG00099.hp2
HG01099.hp1
HG01106.hp1
others(25): Show 
HG00099.hp2
HG01099.hp1
HG01106.hp1
HG01192.hp1
HG01243.hp1
HG02257.hp1
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02976.hp2
HG03130.hp1
HG03492.hp1
HG04199.hp1
NA18522.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*3785T>C
c.*3785T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 25/25 5037 chrX 68043387
chrX:68043451 A
A
 G
G
 23 a0001c0001t0002
a0001c0001t0003
a0001c0001t0004
others(20): Show 
a0001c0001t0002
a0001c0001t0003
a0001c0001t0004
a0001c0001t0005
a0001c0001t0006
a0001c0001t0007
a0001c0001t0008
a0001c0001t0009
a0001c0001t0011
a0001c0001t0013
a0001c0001t0015
a0001c0001t0016
a0001c0001t0017
a0001c0001t0019
a0001c0001t0020
a0001c0001t0021
a0001c0001t0022
a0001c0001t0028
a0001c0001t0029
a0001c0001t0030
a0001c0003t0010
a0002c0002t0003
a0003c0004t0014
 87 HG00099.hp2
HG00673.hp1
HG00735.hp2
others(84): Show 
HG00099.hp2
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01952.hp1
HG02027.hp1
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG04199.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18948.hp1
NA18962.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19070.hp1
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*3721T>C
c.*3721T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 25/25 4973 chrX 68043451
chrX:68043529 A
A
 AT
AT
 1 a0001c0001t0023
a0001c0001t0023
 1 HG04115.hp1
HG04115.hp1
 3_prime_UTR_variant MODIFIER c.*3642dupA
c.*3642dupA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 25/25 4894 chrX 68043529
chrX:68043546 G
G
 A
A
 1 a0001c0001t0027
a0001c0001t0027
 1 HG00099.hp1
HG00099.hp1
 3_prime_UTR_variant MODIFIER c.*3626C>T
c.*3626C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 25/25 4878 chrX 68043546
chrX:68043637 T
T
 C
C
 10 a0001c0001t0002
a0001c0001t0011
a0001c0001t0015
others(7): Show 
a0001c0001t0002
a0001c0001t0011
a0001c0001t0015
a0001c0001t0016
a0001c0001t0017
a0001c0001t0018
a0001c0001t0022
a0001c0001t0028
a0001c0001t0029
a0001c0003t0010
 34 HG00280.hp1
HG00673.hp1
HG01081.hp1
others(31): Show 
HG00280.hp1
HG00673.hp1
HG01081.hp1
HG01255.hp1
HG01891.hp1
HG01943.hp1
HG01952.hp1
HG02027.hp1
HG02074.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp2
HG02559.hp2
HG02683.hp1
HG02735.hp1
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03688.hp1
NA18612.hp1
NA18906.hp2
NA18948.hp1
NA18962.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA19012.hp1
NA19070.hp1
 3_prime_UTR_variant MODIFIER c.*3535A>G
c.*3535A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 25/25 4787 chrX 68043637
chrX:68044002 C
C
 T
T
 22 a0001c0001t0002
a0001c0001t0003
a0001c0001t0004
others(19): Show 
a0001c0001t0002
a0001c0001t0003
a0001c0001t0004
a0001c0001t0005
a0001c0001t0006
a0001c0001t0007
a0001c0001t0008
a0001c0001t0009
a0001c0001t0011
a0001c0001t0013
a0001c0001t0015
a0001c0001t0016
a0001c0001t0017
a0001c0001t0018
a0001c0001t0019
a0001c0001t0020
a0001c0001t0021
a0001c0001t0022
a0001c0001t0030
a0001c0003t0010
a0002c0002t0003
a0003c0004t0014
 86 HG00099.hp2
HG00280.hp1
HG00673.hp1
others(83): Show 
HG00099.hp2
HG00280.hp1
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01952.hp1
HG02027.hp1
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG04199.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18948.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*3170G>A
c.*3170G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 25/25 4422 chrX 68044002
chrX:68044910 T
T
 A
A
 1 a0003c0004t0014
a0003c0004t0014
 1 HG02886.hp1
HG02886.hp1
 3_prime_UTR_variant MODIFIER c.*2262A>T
c.*2262A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 25/25 3514 chrX 68044910
chrX:68044954 A
A
 G
G
 1 a0001c0001t0005
a0001c0001t0005
 6 HG02486.hp1
HG02630.hp2
HG02717.hp1
others(3): Show 
HG02486.hp1
HG02630.hp2
HG02717.hp1
HG02818.hp1
HG02976.hp1
HG03540.hp2
 3_prime_UTR_variant MODIFIER c.*2218T>C
c.*2218T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 25/25 3470 chrX 68044954
chrX:68045348 A
A
 G
G
 1 a0001c0001t0019
a0001c0001t0019
 1 HG02809.hp2
HG02809.hp2
 3_prime_UTR_variant MODIFIER c.*1824T>C
c.*1824T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 25/25 3076 chrX 68045348
chrX:68045575 G
G
 T
T
 16 a0001c0001t0002
a0001c0001t0003
a0001c0001t0005
others(13): Show 
a0001c0001t0002
a0001c0001t0003
a0001c0001t0005
a0001c0001t0006
a0001c0001t0007
a0001c0001t0008
a0001c0001t0011
a0001c0001t0013
a0001c0001t0015
a0001c0001t0016
a0001c0001t0017
a0001c0001t0018
a0001c0001t0030
a0001c0003t0010
a0002c0002t0003
a0003c0004t0014
 69 HG00099.hp2
HG00280.hp1
HG00673.hp1
others(66): Show 
HG00099.hp2
HG00280.hp1
HG00673.hp1
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01192.hp1
HG01255.hp1
HG01346.hp2
HG01891.hp1
HG01943.hp1
HG01952.hp1
HG02027.hp1
HG02074.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03492.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG04199.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp2
NA18948.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*1597C>A
c.*1597C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 25/25 2849 chrX 68045575
chrX:68046046 A
A
 AT
AT
 1 a0004c0005t0012
a0004c0005t0012
 1 HG01169.hp2
HG01169.hp2
 3_prime_UTR_variant MODIFIER c.*1125dupA
c.*1125dupA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 25/25 2377 chrX 68046046
chrX:68046073 C
C
 CT
CT
 8 a0001c0001t0003
a0001c0001t0007
a0001c0001t0008
others(5): Show 
a0001c0001t0003
a0001c0001t0007
a0001c0001t0008
a0001c0001t0009
a0001c0001t0013
a0001c0001t0030
a0002c0002t0003
a0003c0004t0014
 29 HG00099.hp2
HG01099.hp1
HG01106.hp1
others(26): Show 
HG00099.hp2
HG01099.hp1
HG01106.hp1
HG01192.hp1
HG01243.hp1
HG01346.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02976.hp2
HG03130.hp1
HG03492.hp1
HG04199.hp1
NA18522.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*1098dupA
c.*1098dupA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 25/25 2350 chrX 68046073
chrX:68046217 CT
CT
 C
C
 1 a0004c0005t0012
a0004c0005t0012
 1 HG01169.hp2
HG01169.hp2
 3_prime_UTR_variant MODIFIER c.*954delA
c.*954delA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 25/25 2206 chrX 68046217
chrX:68046364 TTA
TTA
 T
T
 1 a0004c0005t0012
a0004c0005t0012
 1 HG01169.hp2
HG01169.hp2
 3_prime_UTR_variant MODIFIER c.*806_*807delTA
c.*806_*807delTA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 25/25 2058 chrX 68046364
chrX:68046659 A
A
 C
C
 1 a0001c0001t0007
a0001c0001t0007
 4 HG02559.hp1
HG03130.hp1
NA19030.hp1
others(1): Show 
HG02559.hp1
HG03130.hp1
NA19030.hp1
NA19030.hp2
 3_prime_UTR_variant MODIFIER c.*513T>G
c.*513T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 25/25 1765 chrX 68046659
chrX:68046762 A
A
 AC
AC
 1 a0004c0005t0012
a0004c0005t0012
 1 HG01169.hp2
HG01169.hp2
 3_prime_UTR_variant MODIFIER c.*409dupG
c.*409dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 25/25 1661 chrX 68046762
chrX:68047159 A
A
 C
C
 1 a0001c0001t0011
a0001c0001t0011
 1 NA18982.hp1
NA18982.hp1
 3_prime_UTR_variant MODIFIER c.*13T>G
c.*13T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 25/25 1265 chrX 68047159
chrX:68433387 T
T
 C
C
 1 a0001c0001t0030
a0001c0001t0030
 1 HG02895.hp1
HG02895.hp1
 5_prime_UTR_variant MODIFIER c.-224A>G
c.-224A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 1/25 367 chrX 68433387

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
chrX:68047219 G
G
 GC
GC
 1 a0004c0005t0012g0024
a0004c0005t0012g0024
 1 HG01169.hp2
HG01169.hp2
 intron_variant MODIFIER c.*9-57dupG
c.*9-57dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 24/24 chrX 68047219
chrX:68047320 C
C
 CA
CA
 1 a0004c0005t0012g0024
a0004c0005t0012g0024
 1 HG01169.hp2
HG01169.hp2
 intron_variant MODIFIER c.*9-158dupT
c.*9-158dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 24/24 chrX 68047320
chrX:68047396 T
T
 A
A
 1 a0004c0005t0012g0024
a0004c0005t0012g0024
 1 HG01169.hp2
HG01169.hp2
 intron_variant MODIFIER c.*9-233A>T
c.*9-233A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 24/24 chrX 68047396
chrX:68047767 C
C
 G
G
 2 a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0008g0096
a0001c0001t0008g0112
 2 HG02257.hp1
HG02818.hp2
HG02257.hp1
HG02818.hp2
 intron_variant MODIFIER c.*9-604G>C
c.*9-604G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 24/24 chrX 68047767
chrX:68047789 AT
AT
 A
A
 1 a0004c0005t0012g0024
a0004c0005t0012g0024
 1 HG01169.hp2
HG01169.hp2
 intron_variant MODIFIER c.*8+626delA
c.*8+626delA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 24/24 chrX 68047789
chrX:68047835 G
G
 A
A
 1 a0001c0001t0001g0038
a0001c0001t0001g0038
 1 HG02602.hp1
HG02602.hp1
 intron_variant MODIFIER c.*8+581C>T
c.*8+581C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 24/24 chrX 68047835
chrX:68047867 G
G
 C
C
 2 a0001c0001t0004g0005
a0001c0001t0020g0099
a0001c0001t0004g0005
a0001c0001t0020g0099
 2 HG00735.hp2
HG00738.hp1
HG00735.hp2
HG00738.hp1
 intron_variant MODIFIER c.*8+549C>G
c.*8+549C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 24/24 chrX 68047867
chrX:68047933 G
G
 C
C
 1 a0001c0001t0001g0140
a0001c0001t0001g0140
 1 NA18966.hp1
NA18966.hp1
 intron_variant MODIFIER c.*8+483C>G
c.*8+483C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 24/24 chrX 68047933
chrX:68047997 T
T
 C
C
 51 a0001c0001t0001g0077
a0001c0001t0002g0006
a0001c0001t0002g0014
others(48): Show 
a0001c0001t0001g0077
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0011g0061
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0003t0010g0085
a0001c0003t0010g0089
 51 HG00280.hp1
HG00673.hp1
HG01081.hp1
others(48): Show 
HG00280.hp1
HG00673.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01255.hp1
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01952.hp1
HG02027.hp1
HG02055.hp1
HG02071.hp1
HG02074.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp2
HG02486.hp1
HG02559.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02735.hp1
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG03098.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18948.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA19012.hp1
 intron_variant MODIFIER c.*8+419A>G
c.*8+419A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 24/24 chrX 68047997
chrX:68048146 AT
AT
 A
A
 1 a0004c0005t0012g0024
a0004c0005t0012g0024
 1 HG01169.hp2
HG01169.hp2
 intron_variant MODIFIER c.*8+269delA
c.*8+269delA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 24/24 chrX 68048146
chrX:68048175 T
T
 C
C
 51 a0001c0001t0001g0077
a0001c0001t0002g0006
a0001c0001t0002g0014
others(48): Show 
a0001c0001t0001g0077
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0011g0061
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0003t0010g0085
a0001c0003t0010g0089
 51 HG00280.hp1
HG00673.hp1
HG01081.hp1
others(48): Show 
HG00280.hp1
HG00673.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01255.hp1
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01952.hp1
HG02027.hp1
HG02055.hp1
HG02071.hp1
HG02074.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp2
HG02486.hp1
HG02559.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02735.hp1
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG03098.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18948.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA19012.hp1
 intron_variant MODIFIER c.*8+241A>G
c.*8+241A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 24/24 chrX 68048175
chrX:68048517 T
T
 TG
TG
 1 a0004c0005t0012g0024
a0004c0005t0012g0024
 1 HG01169.hp2
HG01169.hp2
 intron_variant MODIFIER c.2376-61dupC
c.2376-61dupC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 23/24 chrX 68048517
chrX:68048534 C
C
 A
A
 31 a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
others(28): Show 
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0011g0061
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0022g0103
a0001c0003t0010g0085
a0001c0003t0010g0089
 31 HG00280.hp1
HG00673.hp1
HG01081.hp1
others(28): Show 
HG00280.hp1
HG00673.hp1
HG01081.hp1
HG01255.hp1
HG01891.hp1
HG01943.hp1
HG01952.hp1
HG02027.hp1
HG02074.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp2
HG02683.hp1
HG02735.hp1
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03688.hp1
NA18612.hp1
NA18906.hp2
NA18948.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA19012.hp1
 intron_variant MODIFIER c.2376-77G>T
c.2376-77G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 23/24 chrX 68048534
chrX:68049061 TG
TG
 T
T
 1 a0004c0005t0012g0024
a0004c0005t0012g0024
 1 HG01169.hp2
HG01169.hp2
 intron_variant MODIFIER c.2376-605delC
c.2376-605delC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 23/24 chrX 68049061
chrX:68049127 T
T
 C
C
 2 a0001c0001t0001g0045
a0001c0001t0001g0078
a0001c0001t0001g0045
a0001c0001t0001g0078
 2 NA19085.hp1
NA19088.hp1
NA19085.hp1
NA19088.hp1
 intron_variant MODIFIER c.2376-670A>G
c.2376-670A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 23/24 chrX 68049127
chrX:68049278 T
T
 TA
TA
 1 a0004c0005t0012g0024
a0004c0005t0012g0024
 1 HG01169.hp2
HG01169.hp2
 intron_variant MODIFIER c.2376-822dupT
c.2376-822dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 23/24 chrX 68049278
chrX:68049286 T
T
 G
G
 15 a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
others(12): Show 
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0013g0042
a0001c0001t0030g0155
a0002c0002t0003g0001
 15 HG00099.hp2
HG01099.hp1
HG01106.hp1
others(12): Show 
HG00099.hp2
HG01099.hp1
HG01106.hp1
HG01192.hp1
HG01346.hp2
HG02257.hp1
HG02280.hp1
HG02615.hp1
HG02615.hp2
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG03492.hp1
HG04199.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2376-829A>C
c.2376-829A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 23/24 chrX 68049286
chrX:68049311 T
T
 TC
TC
 1 a0004c0005t0012g0024
a0004c0005t0012g0024
 1 HG01169.hp2
HG01169.hp2
 intron_variant MODIFIER c.2376-855dupG
c.2376-855dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 23/24 chrX 68049311
chrX:68049339 C
C
 CG
CG
 1 a0004c0005t0012g0024
a0004c0005t0012g0024
 1 HG01169.hp2
HG01169.hp2
 intron_variant MODIFIER c.2376-883_2376-882i
others(3): Show 
c.2376-883_2376-882insC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 23/24 chrX 68049339
chrX:68049525 A
A
 AG
AG
 1 a0004c0005t0012g0024
a0004c0005t0012g0024
 1 HG01169.hp2
HG01169.hp2
 intron_variant MODIFIER c.2376-1069dupC
c.2376-1069dupC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 23/24 chrX 68049525
chrX:68049586 T
T
 TC
TC
 1 a0004c0005t0012g0024
a0004c0005t0012g0024
 1 HG01169.hp2
HG01169.hp2
 intron_variant MODIFIER c.2376-1130dupG
c.2376-1130dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 23/24 chrX 68049586
chrX:68049879 C
C
 CG
CG
 1 a0004c0005t0012g0024
a0004c0005t0012g0024
 1 HG01169.hp2
HG01169.hp2
 intron_variant MODIFIER c.2376-1423_2376-142
others(5): Show 
c.2376-1423_2376-1422insC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 23/24 chrX 68049879
chrX:68049895 T
T
 C
C
 1 a0001c0001t0003g0065
a0001c0001t0003g0065
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.2376-1438A>G
c.2376-1438A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 23/24 chrX 68049895
chrX:68049960 A
A
 AG
AG
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.2376-1504dupC
c.2376-1504dupC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 23/24 chrX 68049960
chrX:68049969 T
T
 C
C
 53 a0001c0001t0001g0077
a0001c0001t0002g0006
a0001c0001t0002g0014
others(50): Show 
a0001c0001t0001g0077
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
 53 HG00280.hp1
HG00673.hp1
HG00738.hp1
others(50): Show 
HG00280.hp1
HG00673.hp1
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01243.hp1
HG01255.hp1
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01952.hp1
HG02027.hp1
HG02055.hp1
HG02071.hp1
HG02074.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp2
HG02451.hp1
HG02486.hp1
HG02559.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG03098.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18948.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA19012.hp1
NA19030.hp2
 intron_variant MODIFIER c.2376-1512A>G
c.2376-1512A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 23/24 chrX 68049969
chrX:68049981 G
G
 A
A
 10 a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
others(7): Show 
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
 10 HG01167.hp1
HG01169.hp1
HG02630.hp1
others(7): Show 
HG01167.hp1
HG01169.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02717.hp1
HG02818.hp1
HG02886.hp2
HG02976.hp1
HG03540.hp2
 intron_variant MODIFIER c.2376-1524C>T
c.2376-1524C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 23/24 chrX 68049981
chrX:68050301 T
T
 A
A
 1 a0001c0001t0003g0122
a0001c0001t0003g0122
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.2376-1844A>T
c.2376-1844A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 23/24 chrX 68050301
chrX:68050472 GC
GC
 G
G
 1 a0004c0005t0012g0024
a0004c0005t0012g0024
 1 HG01169.hp2
HG01169.hp2
 intron_variant MODIFIER c.2376-2016delG
c.2376-2016delG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 23/24 chrX 68050472
chrX:68050813 C
C
 T
T
 1 a0001c0001t0004g0004
a0001c0001t0004g0004
 1 HG02109.hp1
HG02109.hp1
 intron_variant MODIFIER c.2375+1727G>A
c.2375+1727G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 23/24 chrX 68050813
chrX:68051422 A
A
 G
G
 1 a0001c0001t0003g0035
a0001c0001t0003g0035
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.2375+1118T>C
c.2375+1118T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 23/24 chrX 68051422
chrX:68051493 G
G
 A
A
 2 a0001c0003t0010g0085
a0001c0003t0010g0089
a0001c0003t0010g0085
a0001c0003t0010g0089
 2 HG02735.hp1
HG03688.hp1
HG02735.hp1
HG03688.hp1
 intron_variant MODIFIER c.2375+1047C>T
c.2375+1047C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 23/24 chrX 68051493
chrX:68051695 TA
TA
 T
T
 1 a0001c0001t0002g0115
a0001c0001t0002g0115
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.2375+844delT
c.2375+844delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 23/24 chrX 68051695
chrX:68051980 GA
GA
 G
G
 1 a0004c0005t0012g0024
a0004c0005t0012g0024
 1 HG01169.hp2
HG01169.hp2
 intron_variant MODIFIER c.2375+559delT
c.2375+559delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 23/24 chrX 68051980
chrX:68052028 G
G
 GC
GC
 1 a0004c0005t0012g0024
a0004c0005t0012g0024
 1 HG01169.hp2
HG01169.hp2
 intron_variant MODIFIER c.2375+511dupG
c.2375+511dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 23/24 chrX 68052028
chrX:68052289 C
C
 CA
CA
 78 a0001c0001t0001g0077
a0001c0001t0002g0006
a0001c0001t0002g0019
others(75): Show 
a0001c0001t0001g0077
a0001c0001t0002g0006
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0002c0002t0003g0001
a0003c0004t0014g0102
 78 HG00280.hp1
HG00673.hp1
HG00735.hp2
others(75): Show 
HG00280.hp1
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01167.hp1
HG01169.hp1
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01952.hp1
HG02027.hp1
HG02055.hp1
HG02071.hp1
HG02074.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG04199.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18948.hp1
NA18962.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19070.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2375+250dupT
c.2375+250dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 23/24 chrX 68052289
chrX:68052289 C
C
 CAA
CAA
 5 a0001c0001t0002g0014
a0001c0001t0003g0081
a0001c0001t0003g0091
others(2): Show 
a0001c0001t0002g0014
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0016g0119
 5 HG00099.hp2
HG01106.hp1
HG02683.hp1
others(2): Show 
HG00099.hp2
HG01106.hp1
HG02683.hp1
HG03098.hp1
HG03492.hp1
 intron_variant MODIFIER c.2375+249_2375+250d
others(4): Show 
c.2375+249_2375+250dupTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 23/24 chrX 68052289
chrX:68052289 CA
CA
 C
C
 6 a0001c0001t0001g0025
a0001c0001t0001g0145
a0001c0001t0004g0010
others(3): Show 
a0001c0001t0001g0025
a0001c0001t0001g0145
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0004c0005t0012g0024
 6 HG01169.hp2
HG01515.hp1
HG02280.hp2
others(3): Show 
HG01169.hp2
HG01515.hp1
HG02280.hp2
HG02451.hp2
HG02922.hp2
NA18944.hp1
 intron_variant MODIFIER c.2375+250delT
c.2375+250delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 23/24 chrX 68052289
chrX:68052400 T
T
 TG
TG
 1 a0004c0005t0012g0024
a0004c0005t0012g0024
 1 HG01169.hp2
HG01169.hp2
 intron_variant MODIFIER c.2375+139dupC
c.2375+139dupC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 23/24 chrX 68052400
chrX:68052511 G
G
 GT
GT
 1 a0004c0005t0012g0024
a0004c0005t0012g0024
 1 HG01169.hp2
HG01169.hp2
 intron_variant MODIFIER c.2375+28dupA
c.2375+28dupA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 23/24 chrX 68052511
chrX:68053223 A
A
 T
T
 75 a0001c0001t0001g0077
a0001c0001t0002g0006
a0001c0001t0002g0014
others(72): Show 
a0001c0001t0001g0077
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0030g0155
a0002c0002t0003g0001
a0003c0004t0014g0102
 75 HG00099.hp2
HG00280.hp1
HG00673.hp1
others(72): Show 
HG00099.hp2
HG00280.hp1
HG00673.hp1
HG00738.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp2
HG01891.hp1
HG01943.hp1
HG01952.hp1
HG02027.hp1
HG02055.hp1
HG02071.hp1
HG02074.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03471.hp1
HG03492.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG04199.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18948.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2324+422T>A
c.2324+422T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 22/24 chrX 68053223
chrX:68053226 T
T
 TA
TA
 1 a0004c0005t0012g0024
a0004c0005t0012g0024
 1 HG01169.hp2
HG01169.hp2
 intron_variant MODIFIER c.2324+418dupT
c.2324+418dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 22/24 chrX 68053226
chrX:68053301 T
T
 TA
TA
 1 a0004c0005t0012g0024
a0004c0005t0012g0024
 1 HG01169.hp2
HG01169.hp2
 intron_variant MODIFIER c.2324+343dupT
c.2324+343dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 22/24 chrX 68053301
chrX:68053325 AT
AT
 A
A
 1 a0004c0005t0012g0024
a0004c0005t0012g0024
 1 HG01169.hp2
HG01169.hp2
 intron_variant MODIFIER c.2324+319delA
c.2324+319delA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 22/24 chrX 68053325
chrX:68053332 T
T
 A
A
 1 a0001c0001t0020g0099
a0001c0001t0020g0099
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.2324+313A>T
c.2324+313A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 22/24 chrX 68053332
chrX:68053514 A
A
 AT
AT
 1 a0004c0005t0012g0024
a0004c0005t0012g0024
 1 HG01169.hp2
HG01169.hp2
 intron_variant MODIFIER c.2324+130dupA
c.2324+130dupA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 22/24 chrX 68053514
chrX:68053870 A
A
 AG
AG
 1 a0004c0005t0012g0024
a0004c0005t0012g0024
 1 HG01169.hp2
HG01169.hp2
 intron_variant MODIFIER c.2159-61dupC
c.2159-61dupC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 21/24 chrX 68053870
chrX:68053912 G
G
 GGC
GGC
 1 a0004c0005t0012g0024
a0004c0005t0012g0024
 1 HG01169.hp2
HG01169.hp2
 intron_variant MODIFIER c.2159-103_2159-102i
others(4): Show 
c.2159-103_2159-102insGC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 21/24 chrX 68053912
chrX:68053948 A
A
 AT
AT
 9 a0001c0001t0003g0065
a0001c0001t0003g0109
a0001c0001t0003g0122
others(6): Show 
a0001c0001t0003g0065
a0001c0001t0003g0109
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0006g0106
a0001c0001t0007g0032
a0001c0001t0009g0128
a0001c0001t0009g0129
a0003c0004t0014g0102
 9 HG01243.hp1
HG02258.hp1
HG02451.hp1
others(6): Show 
HG01243.hp1
HG02258.hp1
HG02451.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02886.hp1
HG03130.hp1
NA19043.hp1
 intron_variant MODIFIER c.2159-139dupA
c.2159-139dupA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 21/24 chrX 68053948
chrX:68053948 A
A
 ATT
ATT
 26 a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0101
others(23): Show 
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0101
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0151
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0015g0148
a0001c0001t0021g0150
 26 HG00099.hp2
HG01081.hp2
HG01167.hp1
others(23): Show 
HG00099.hp2
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01891.hp2
HG01943.hp1
HG02055.hp1
HG02257.hp1
HG02572.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02976.hp1
HG02976.hp2
HG03209.hp1
HG03471.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp2
NA18522.hp1
NA18906.hp1
 intron_variant MODIFIER c.2159-140_2159-139d
others(4): Show 
c.2159-140_2159-139dupAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 21/24 chrX 68053948
chrX:68053948 A
A
 ATTT
ATTT
 41 a0001c0001t0001g0077
a0001c0001t0002g0006
a0001c0001t0002g0014
others(38): Show 
a0001c0001t0001g0077
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0076
a0001c0001t0003g0100
a0001c0001t0005g0107
a0001c0001t0007g0022
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0002c0002t0003g0001
 41 HG00280.hp1
HG00673.hp1
HG01099.hp1
others(38): Show 
HG00280.hp1
HG00673.hp1
HG01099.hp1
HG01106.hp1
HG01192.hp1
HG01255.hp1
HG01346.hp2
HG01891.hp1
HG01952.hp1
HG02027.hp1
HG02071.hp1
HG02074.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp2
HG02280.hp1
HG02486.hp1
HG02559.hp2
HG02683.hp1
HG02809.hp1
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
NA18612.hp1
NA18906.hp2
NA18948.hp1
NA18962.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA19012.hp1
NA19030.hp2
NA19070.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2159-141_2159-139d
others(5): Show 
c.2159-141_2159-139dupAAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 21/24 chrX 68053948
chrX:68053948 A
A
 ATTTT
ATTTT
 2 a0001c0001t0003g0063
a0001c0001t0022g0103
a0001c0001t0003g0063
a0001c0001t0022g0103
 2 HG01081.hp1
HG04199.hp1
HG01081.hp1
HG04199.hp1
 intron_variant MODIFIER c.2159-142_2159-139d
others(6): Show 
c.2159-142_2159-139dupAAAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 21/24 chrX 68053948
chrX:68053948 AT
AT
 A
A
 2 a0001c0001t0004g0012
a0004c0005t0012g0024
a0001c0001t0004g0012
a0004c0005t0012g0024
 2 HG01169.hp2
HG02922.hp2
HG01169.hp2
HG02922.hp2
 intron_variant MODIFIER c.2159-139delA
c.2159-139delA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 21/24 chrX 68053948
chrX:68053967 A
A
 AT
AT
 1 a0004c0005t0012g0024
a0004c0005t0012g0024
 1 HG01169.hp2
HG01169.hp2
 intron_variant MODIFIER c.2159-158dupA
c.2159-158dupA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 21/24 chrX 68053967
chrX:68054042 T
T
 C
C
 1 a0001c0001t0001g0143
a0001c0001t0001g0143
 1 HG03490.hp1
HG03490.hp1
 intron_variant MODIFIER c.2159-232A>G
c.2159-232A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 21/24 chrX 68054042
chrX:68054335 T
T
 C
C
 1 a0001c0001t0003g0139
a0001c0001t0003g0139
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.2159-525A>G
c.2159-525A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 21/24 chrX 68054335
chrX:68054438 C
C
 T
T
 1 a0001c0001t0004g0034
a0001c0001t0004g0034
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.2159-628G>A
c.2159-628G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 21/24 chrX 68054438
chrX:68054491 G
G
 T
T
 1 a0001c0001t0003g0109
a0001c0001t0003g0109
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.2159-681C>A
c.2159-681C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 21/24 chrX 68054491
chrX:68054627 T
T
 C
C
 53 a0001c0001t0001g0077
a0001c0001t0002g0006
a0001c0001t0002g0014
others(50): Show 
a0001c0001t0001g0077
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0011g0061
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0028g0084
a0001c0001t0029g0031
 53 HG00280.hp1
HG00673.hp1
HG00738.hp1
others(50): Show 
HG00280.hp1
HG00673.hp1
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01255.hp1
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01952.hp1
HG02027.hp1
HG02055.hp1
HG02071.hp1
HG02074.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp2
HG02486.hp1
HG02559.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG03098.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18948.hp1
NA18962.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA19012.hp1
NA19030.hp2
NA19070.hp1
 intron_variant MODIFIER c.2159-817A>G
c.2159-817A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 21/24 chrX 68054627
chrX:68054705 T
T
 C
C
 1 a0001c0001t0003g0139
a0001c0001t0003g0139
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.2159-895A>G
c.2159-895A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 21/24 chrX 68054705
chrX:68054852 G
G
 A
A
 1 a0002c0002t0001g0002
a0002c0002t0001g0002
 1 HG01358.hp1
HG01358.hp1
 intron_variant MODIFIER c.2159-1042C>T
c.2159-1042C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 21/24 chrX 68054852
chrX:68055061 C
C
 T
T
 1 a0001c0001t0001g0045
a0001c0001t0001g0045
 1 NA19085.hp1
NA19085.hp1
 intron_variant MODIFIER c.2159-1251G>A
c.2159-1251G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 21/24 chrX 68055061
chrX:68055583 C
C
 A
A
 1 a0001c0001t0001g0046
a0001c0001t0001g0046
 1 HG01928.hp1
HG01928.hp1
 intron_variant MODIFIER c.2159-1773G>T
c.2159-1773G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 21/24 chrX 68055583
chrX:68055780 AG
AG
 A
A
 1 a0001c0001t0001g0044
a0001c0001t0001g0044
 1 HG03942.hp1
HG03942.hp1
 intron_variant MODIFIER c.2159-1971delC
c.2159-1971delC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 21/24 chrX 68055780
chrX:68055874 G
G
 A
A
 32 a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
others(29): Show 
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0007g0022
a0001c0001t0011g0061
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0022g0103
a0001c0001t0028g0084
a0001c0001t0029g0031
 32 HG00280.hp1
HG00673.hp1
HG01081.hp1
others(29): Show 
HG00280.hp1
HG00673.hp1
HG01081.hp1
HG01255.hp1
HG01891.hp1
HG01943.hp1
HG01952.hp1
HG02027.hp1
HG02074.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp2
HG02683.hp1
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
NA18612.hp1
NA18906.hp2
NA18948.hp1
NA18962.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA19012.hp1
NA19030.hp2
NA19070.hp1
 intron_variant MODIFIER c.2159-2064C>T
c.2159-2064C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 21/24 chrX 68055874
chrX:68056096 A
A
 G
G
 83 a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
others(80): Show 
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0002c0002t0003g0001
a0003c0004t0014g0102
 83 HG00099.hp2
HG00280.hp1
HG00673.hp1
others(80): Show 
HG00099.hp2
HG00280.hp1
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp2
HG01891.hp1
HG01943.hp1
HG01952.hp1
HG02027.hp1
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03471.hp1
HG03492.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG04199.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18948.hp1
NA18962.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19070.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2159-2286T>C
c.2159-2286T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 21/24 chrX 68056096
chrX:68056375 C
C
 T
T
 1 a0001c0001t0004g0004
a0001c0001t0004g0004
 1 HG02109.hp1
HG02109.hp1
 intron_variant MODIFIER c.2159-2565G>A
c.2159-2565G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 21/24 chrX 68056375
chrX:68056581 C
C
 A
A
 81 a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
others(78): Show 
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0030g0155
a0002c0002t0003g0001
a0003c0004t0014g0102
 81 HG00099.hp2
HG00280.hp1
HG00673.hp1
others(78): Show 
HG00099.hp2
HG00280.hp1
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp2
HG01891.hp1
HG01943.hp1
HG01952.hp1
HG02027.hp1
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03471.hp1
HG03492.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG04199.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18948.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2159-2771G>T
c.2159-2771G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 21/24 chrX 68056581
chrX:68056706 GAATA
GAATA
 G
G
 1 a0001c0001t0015g0148
a0001c0001t0015g0148
 1 HG01943.hp1
HG01943.hp1
 intron_variant MODIFIER c.2159-2900_2159-289
others(8): Show 
c.2159-2900_2159-2897delTATT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 21/24 chrX 68056706
chrX:68057233 C
C
 A
A
 50 a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
others(47): Show 
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0011g0061
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
 50 HG00280.hp1
HG00673.hp1
HG00738.hp1
others(47): Show 
HG00280.hp1
HG00673.hp1
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01255.hp1
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01952.hp1
HG02027.hp1
HG02055.hp1
HG02074.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp2
HG02486.hp1
HG02559.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG03098.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18948.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA19012.hp1
NA19030.hp2
 intron_variant MODIFIER c.2159-3423G>T
c.2159-3423G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 21/24 chrX 68057233
chrX:68057747 T
T
 C
C
 1 a0001c0001t0020g0099
a0001c0001t0020g0099
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.2159-3937A>G
c.2159-3937A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 21/24 chrX 68057747
chrX:68057805 A
A
 C
C
 81 a0001c0001t0001g0077
a0001c0001t0002g0006
a0001c0001t0002g0014
others(78): Show 
a0001c0001t0001g0077
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0002c0002t0003g0001
a0003c0004t0014g0102
 81 HG00099.hp2
HG00280.hp1
HG00673.hp1
others(78): Show 
HG00099.hp2
HG00280.hp1
HG00673.hp1
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01952.hp1
HG02027.hp1
HG02055.hp1
HG02071.hp1
HG02074.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG04199.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18948.hp1
NA18962.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19070.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2159-3995T>G
c.2159-3995T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 21/24 chrX 68057805
chrX:68057908 T
T
 C
C
 3 a0001c0001t0004g0004
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0004g0004
a0001c0001t0009g0128
a0001c0001t0009g0129
 3 HG01243.hp1
HG02109.hp1
HG02451.hp1
HG01243.hp1
HG02109.hp1
HG02451.hp1
 intron_variant MODIFIER c.2159-4098A>G
c.2159-4098A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 21/24 chrX 68057908
chrX:68058206 C
C
 T
T
 1 a0001c0001t0002g0125
a0001c0001t0002g0125
 1 HG01255.hp1
HG01255.hp1
 intron_variant MODIFIER c.2159-4396G>A
c.2159-4396G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 21/24 chrX 68058206
chrX:68058259 A
A
 AAC
AAC
 21 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0050
others(18): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0070
a0001c0001t0001g0097
a0001c0001t0001g0154
a0001c0001t0002g0021
a0001c0001t0002g0134
a0001c0001t0004g0004
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0005g0107
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0021g0150
 21 HG00609.hp1
HG00621.hp1
HG01081.hp2
others(18): Show 
HG00609.hp1
HG00621.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01243.hp1
HG01256.hp1
HG02055.hp1
HG02109.hp1
HG02257.hp2
HG02451.hp1
HG02486.hp1
HG02559.hp2
HG02647.hp1
HG02886.hp2
HG03471.hp1
NA18906.hp1
NA18970.hp1
NA18971.hp1
NA19005.hp1
NA19056.hp1
 intron_variant MODIFIER c.2159-4451_2159-445
others(6): Show 
c.2159-4451_2159-4450dupGT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 21/24 chrX 68058259
chrX:68058259 A
A
 AACAC
AACAC
 1 a0001c0001t0001g0086
a0001c0001t0001g0086
 1 NA19060.hp1
NA19060.hp1
 intron_variant MODIFIER c.2159-4453_2159-445
others(8): Show 
c.2159-4453_2159-4450dupGTGT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 21/24 chrX 68058259
chrX:68058259 A
A
 AACACAC
AACACAC
 9 a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
others(6): Show 
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
 9 HG01891.hp2
HG02630.hp1
HG02630.hp2
others(6): Show 
HG01891.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02818.hp1
HG02976.hp1
HG03209.hp1
HG03516.hp1
HG03540.hp2
 intron_variant MODIFIER c.2159-4455_2159-445
others(10): Show 
c.2159-4455_2159-4450dupGTGTGT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 21/24 chrX 68058259
chrX:68058259 AAC
AAC
 A
A
 7 a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
others(4): Show 
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0003c0004t0014g0102
 7 HG02258.hp1
HG02559.hp1
HG02572.hp1
others(4): Show 
HG02258.hp1
HG02559.hp1
HG02572.hp1
HG02886.hp1
HG03130.hp1
NA19030.hp1
NA19043.hp1
 intron_variant MODIFIER c.2159-4451_2159-445
others(6): Show 
c.2159-4451_2159-4450delGT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 21/24 chrX 68058259
chrX:68058259 AACAC
AACAC
 A
A
 18 a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
others(15): Show 
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0151
a0001c0001t0008g0112
a0001c0001t0013g0042
a0001c0001t0030g0155
a0002c0002t0003g0001
 18 HG00099.hp2
HG01099.hp1
HG01106.hp1
others(15): Show 
HG00099.hp2
HG01099.hp1
HG01106.hp1
HG01192.hp1
HG01346.hp2
HG02280.hp1
HG02615.hp1
HG02615.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02976.hp2
HG03492.hp1
HG04199.hp1
NA18522.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2159-4453_2159-445
others(8): Show 
c.2159-4453_2159-4450delGTGT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 21/24 chrX 68058259
chrX:68058259 AACACAC
AACACAC
 A
A
 1 a0001c0001t0008g0096
a0001c0001t0008g0096
 1 HG02257.hp1
HG02257.hp1
 intron_variant MODIFIER c.2159-4455_2159-445
others(10): Show 
c.2159-4455_2159-4450delGTGTGT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 21/24 chrX 68058259
chrX:68058306 C
C
 T
T
 1 a0001c0001t0006g0013
a0001c0001t0006g0013
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.2159-4496G>A
c.2159-4496G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 21/24 chrX 68058306
chrX:68058317 G
G
 A
A
 2 a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0081
a0001c0001t0003g0091
 2 HG00099.hp2
HG03492.hp1
HG00099.hp2
HG03492.hp1
 intron_variant MODIFIER c.2159-4507C>T
c.2159-4507C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 21/24 chrX 68058317
chrX:68058383 T
T
 C
C
 79 a0001c0001t0001g0077
a0001c0001t0002g0006
a0001c0001t0002g0014
others(76): Show 
a0001c0001t0001g0077
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0002c0002t0003g0001
a0003c0004t0014g0102
 79 HG00099.hp2
HG00280.hp1
HG00673.hp1
others(76): Show 
HG00099.hp2
HG00280.hp1
HG00673.hp1
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01192.hp1
HG01255.hp1
HG01346.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01952.hp1
HG02027.hp1
HG02055.hp1
HG02071.hp1
HG02074.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG04199.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18948.hp1
NA18962.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19070.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2159-4573A>G
c.2159-4573A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 21/24 chrX 68058383
chrX:68058827 GAACT
GAACT
 G
G
 1 a0001c0001t0003g0035
a0001c0001t0003g0035
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.2159-5021_2159-501
others(8): Show 
c.2159-5021_2159-5018delAGTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 21/24 chrX 68058827
chrX:68058869 A
A
 G
G
 53 a0001c0001t0001g0077
a0001c0001t0002g0006
a0001c0001t0002g0014
others(50): Show 
a0001c0001t0001g0077
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0011g0061
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0028g0084
a0001c0001t0029g0031
 53 HG00280.hp1
HG00673.hp1
HG00738.hp1
others(50): Show 
HG00280.hp1
HG00673.hp1
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01255.hp1
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01952.hp1
HG02027.hp1
HG02055.hp1
HG02071.hp1
HG02074.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp2
HG02486.hp1
HG02559.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG03098.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18948.hp1
NA18962.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA19012.hp1
NA19030.hp2
NA19070.hp1
 intron_variant MODIFIER c.2158+4985T>C
c.2158+4985T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 21/24 chrX 68058869
chrX:68058998 C
C
 T
T
 26 a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
others(23): Show 
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0013g0042
a0001c0001t0030g0155
a0002c0002t0003g0001
a0003c0004t0014g0102
 26 HG00099.hp2
HG01099.hp1
HG01106.hp1
others(23): Show 
HG00099.hp2
HG01099.hp1
HG01106.hp1
HG01192.hp1
HG01346.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02976.hp2
HG03130.hp1
HG03492.hp1
HG04199.hp1
NA18522.hp1
NA19030.hp1
NA19043.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2158+4856G>A
c.2158+4856G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 21/24 chrX 68058998
chrX:68059525 T
T
 A
A
 1 a0001c0001t0001g0075
a0001c0001t0001g0075
 1 NA18977.hp1
NA18977.hp1
 intron_variant MODIFIER c.2158+4329A>T
c.2158+4329A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 21/24 chrX 68059525
chrX:68059548 G
G
 A
A
 3 a0001c0001t0001g0041
a0001c0001t0001g0092
a0001c0001t0024g0007
a0001c0001t0001g0041
a0001c0001t0001g0092
a0001c0001t0024g0007
 3 NA18960.hp1
NA19000.hp1
NA19007.hp1
NA18960.hp1
NA19000.hp1
NA19007.hp1
 intron_variant MODIFIER c.2158+4306C>T
c.2158+4306C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 21/24 chrX 68059548
chrX:68060060 G
G
 C
C
 1 a0001c0001t0001g0058
a0001c0001t0001g0058
 1 HG02129.hp1
HG02129.hp1
 intron_variant MODIFIER c.2158+3794C>G
c.2158+3794C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 21/24 chrX 68060060
chrX:68060265 C
C
 T
T
 1 a0001c0001t0001g0040
a0001c0001t0001g0040
 1 NA18965.hp1
NA18965.hp1
 intron_variant MODIFIER c.2158+3589G>A
c.2158+3589G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 21/24 chrX 68060265
chrX:68060270 C
C
 T
T
 1 a0001c0001t0001g0025
a0001c0001t0001g0025
 1 HG01515.hp1
HG01515.hp1
 intron_variant MODIFIER c.2158+3584G>A
c.2158+3584G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 21/24 chrX 68060270
chrX:68060539 C
C
 T
T
 69 a0001c0001t0001g0077
a0001c0001t0002g0006
a0001c0001t0002g0014
others(66): Show 
a0001c0001t0001g0077
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0020g0099
a0001c0001t0030g0155
a0002c0002t0003g0001
a0003c0004t0014g0102
 69 HG00099.hp2
HG00280.hp1
HG00673.hp1
others(66): Show 
HG00099.hp2
HG00280.hp1
HG00673.hp1
HG00738.hp1
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01192.hp1
HG01255.hp1
HG01346.hp2
HG01891.hp1
HG01943.hp1
HG01952.hp1
HG02027.hp1
HG02071.hp1
HG02074.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03492.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG04199.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp2
NA18948.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2158+3315G>A
c.2158+3315G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 21/24 chrX 68060539
chrX:68060776 T
T
 TG
TG
 1 a0001c0001t0002g0047
a0001c0001t0002g0047
 1 HG00673.hp1
HG00673.hp1
 intron_variant MODIFIER c.2158+3077dupC
c.2158+3077dupC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 21/24 chrX 68060776
chrX:68060806 C
C
 G
G
 1 a0001c0001t0001g0048
a0001c0001t0001g0048
 1 HG02738.hp1
HG02738.hp1
 intron_variant MODIFIER c.2158+3048G>C
c.2158+3048G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 21/24 chrX 68060806
chrX:68060931 CT
CT
 C
C
 1 a0001c0001t0020g0099
a0001c0001t0020g0099
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.2158+2922delA
c.2158+2922delA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 21/24 chrX 68060931
chrX:68061375 C
C
 T
T
 25 a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
others(22): Show 
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0013g0042
a0001c0001t0030g0155
a0002c0002t0003g0001
 25 HG00099.hp2
HG01099.hp1
HG01106.hp1
others(22): Show 
HG00099.hp2
HG01099.hp1
HG01106.hp1
HG01192.hp1
HG01346.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02976.hp2
HG03130.hp1
HG03492.hp1
HG04199.hp1
NA18522.hp1
NA19030.hp1
NA19043.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2158+2479G>A
c.2158+2479G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 21/24 chrX 68061375
chrX:68061626 T
T
 C
C
 82 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(79): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0004c0005t0012g0024
 82 HG00099.hp1
HG00140.hp1
HG00609.hp1
others(79): Show 
HG00099.hp1
HG00140.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01169.hp2
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02135.hp1
HG02300.hp1
HG02451.hp1
HG02602.hp1
HG02683.hp2
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG03017.hp1
HG03209.hp1
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04228.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.2158+2228A>G
c.2158+2228A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 21/24 chrX 68061626
chrX:68061755 G
G
 A
A
 25 a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
others(22): Show 
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0013g0042
a0001c0001t0030g0155
a0002c0002t0003g0001
 25 HG00099.hp2
HG01099.hp1
HG01106.hp1
others(22): Show 
HG00099.hp2
HG01099.hp1
HG01106.hp1
HG01192.hp1
HG01346.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02976.hp2
HG03130.hp1
HG03492.hp1
HG04199.hp1
NA18522.hp1
NA19030.hp1
NA19043.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2158+2099C>T
c.2158+2099C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 21/24 chrX 68061755
chrX:68061821 T
T
 C
C
 124 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(121): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0134
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0013g0042
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 124 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(121): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02135.hp1
HG02257.hp1
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03130.hp1
HG03209.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp2
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19030.hp1
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2158+2033A>G
c.2158+2033A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 21/24 chrX 68061821
chrX:68062114 T
T
 G
G
 124 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(121): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0134
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0013g0042
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 124 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(121): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02135.hp1
HG02257.hp1
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03130.hp1
HG03209.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp2
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19030.hp1
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2158+1740A>C
c.2158+1740A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 21/24 chrX 68062114
chrX:68062427 CA
CA
 C
C
 1 a0001c0003t0010g0089
a0001c0003t0010g0089
 1 HG03688.hp1
HG03688.hp1
 intron_variant MODIFIER c.2158+1426delT
c.2158+1426delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 21/24 chrX 68062427
chrX:68062707 T
T
 C
C
 1 a0001c0001t0019g0003
a0001c0001t0019g0003
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.2158+1147A>G
c.2158+1147A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 21/24 chrX 68062707
chrX:68063193 A
A
 T
T
 13 a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
others(10): Show 
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0007g0022
 13 HG01255.hp1
HG02109.hp2
HG02145.hp1
others(10): Show 
HG01255.hp1
HG02109.hp2
HG02145.hp1
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
NA18906.hp2
NA19030.hp2
 intron_variant MODIFIER c.2158+661T>A
c.2158+661T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 21/24 chrX 68063193
chrX:68063197 A
A
 C
C
 3 a0001c0001t0002g0123
a0001c0001t0003g0139
a0001c0001t0007g0032
a0001c0001t0002g0123
a0001c0001t0003g0139
a0001c0001t0007g0032
 3 HG02027.hp1
HG02258.hp1
HG03130.hp1
HG02027.hp1
HG02258.hp1
HG03130.hp1
 intron_variant MODIFIER c.2158+657T>G
c.2158+657T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 21/24 chrX 68063197
chrX:68063209 C
C
 CA
CA
 3 a0001c0001t0002g0134
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0002g0134
a0001c0001t0006g0105
a0001c0001t0006g0106
 3 HG02559.hp2
HG02647.hp1
HG02886.hp2
HG02559.hp2
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.2158+644dupT
c.2158+644dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 21/24 chrX 68063209
chrX:68063209 CA
CA
 C
C
 1 a0001c0001t0020g0099
a0001c0001t0020g0099
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.2158+644delT
c.2158+644delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 21/24 chrX 68063209
chrX:68063213 A
A
 C
C
 1 a0001c0001t0003g0020
a0001c0001t0003g0020
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.2158+641T>G
c.2158+641T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 21/24 chrX 68063213
chrX:68063520 CA
CA
 C
C
 1 a0001c0001t0002g0057
a0001c0001t0002g0057
 1 NA19012.hp1
NA19012.hp1
 intron_variant MODIFIER c.2158+333delT
c.2158+333delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 21/24 chrX 68063520
chrX:68063531 A
A
 C
C
 2 a0001c0001t0003g0035
a0001c0001t0003g0100
a0001c0001t0003g0035
a0001c0001t0003g0100
 2 HG01099.hp1
HG01106.hp1
HG01099.hp1
HG01106.hp1
 intron_variant MODIFIER c.2158+323T>G
c.2158+323T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 21/24 chrX 68063531
chrX:68063690 G
G
 C
C
 1 a0001c0001t0004g0094
a0001c0001t0004g0094
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.2158+164C>G
c.2158+164C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 21/24 chrX 68063690
chrX:68064251 A
A
 G
G
 3 a0001c0001t0001g0041
a0001c0001t0001g0092
a0001c0001t0024g0007
a0001c0001t0001g0041
a0001c0001t0001g0092
a0001c0001t0024g0007
 3 NA18960.hp1
NA19000.hp1
NA19007.hp1
NA18960.hp1
NA19000.hp1
NA19007.hp1
 intron_variant MODIFIER c.1835-74T>C
c.1835-74T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 20/24 chrX 68064251
chrX:68064271 G
G
 T
T
 4 a0001c0001t0003g0076
a0001c0001t0003g0100
a0001c0001t0013g0042
others(1): Show 
a0001c0001t0003g0076
a0001c0001t0003g0100
a0001c0001t0013g0042
a0002c0002t0003g0001
 4 HG01106.hp1
HG01192.hp1
HG01346.hp2
others(1): Show 
HG01106.hp1
HG01192.hp1
HG01346.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1835-94C>A
c.1835-94C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 20/24 chrX 68064271
chrX:68064911 C
C
 T
T
 2 a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0048
a0001c0001t0001g0050
 2 HG00609.hp1
HG02738.hp1
HG00609.hp1
HG02738.hp1
 intron_variant MODIFIER c.1835-734G>A
c.1835-734G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 20/24 chrX 68064911
chrX:68065147 T
T
 TA
TA
 1 a0001c0001t0020g0099
a0001c0001t0020g0099
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.1835-971dupT
c.1835-971dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 20/24 chrX 68065147
chrX:68065239 A
A
 T
T
 118 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(115): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0134
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0013g0042
a0001c0001t0019g0003
a0001c0001t0021g0150
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 118 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(115): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02135.hp1
HG02257.hp1
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03130.hp1
HG03209.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp2
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19030.hp1
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1835-1062T>A
c.1835-1062T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 20/24 chrX 68065239
chrX:68065677 C
C
 T
T
 1 a0001c0001t0001g0045
a0001c0001t0001g0045
 1 NA19085.hp1
NA19085.hp1
 intron_variant MODIFIER c.1835-1500G>A
c.1835-1500G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 20/24 chrX 68065677
chrX:68065720 A
A
 C
C
 1 a0001c0001t0002g0021
a0001c0001t0002g0021
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.1835-1543T>G
c.1835-1543T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 20/24 chrX 68065720
chrX:68066059 A
A
 G
G
 1 a0001c0001t0001g0044
a0001c0001t0001g0044
 1 HG03942.hp1
HG03942.hp1
 intron_variant MODIFIER c.1835-1882T>C
c.1835-1882T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 20/24 chrX 68066059
chrX:68066129 T
T
 C
C
 79 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(76): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0019g0003
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0004c0005t0012g0024
 79 HG00099.hp1
HG00140.hp1
HG00609.hp1
others(76): Show 
HG00099.hp1
HG00140.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01169.hp2
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG02015.hp1
HG02056.hp1
HG02071.hp1
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02135.hp1
HG02300.hp1
HG02451.hp1
HG02602.hp1
HG02683.hp2
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG03017.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04228.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.1835-1952A>G
c.1835-1952A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 20/24 chrX 68066129
chrX:68066225 C
C
 A
A
 24 a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
others(21): Show 
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0013g0042
a0001c0001t0030g0155
a0002c0002t0003g0001
 24 HG00099.hp2
HG01099.hp1
HG01106.hp1
others(21): Show 
HG00099.hp2
HG01099.hp1
HG01106.hp1
HG01192.hp1
HG01346.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02976.hp2
HG03130.hp1
HG03492.hp1
HG04199.hp1
NA18522.hp1
NA19030.hp1
NA19043.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1835-2048G>T
c.1835-2048G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 20/24 chrX 68066225
chrX:68066881 G
G
 A
A
 2 a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0054
a0001c0001t0002g0055
 2 NA18983.hp1
NA18986.hp1
NA18983.hp1
NA18986.hp1
 intron_variant MODIFIER c.1835-2704C>T
c.1835-2704C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 20/24 chrX 68066881
chrX:68066999 G
G
 A
A
 24 a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
others(21): Show 
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0013g0042
a0001c0001t0030g0155
a0002c0002t0003g0001
 24 HG00099.hp2
HG01099.hp1
HG01106.hp1
others(21): Show 
HG00099.hp2
HG01099.hp1
HG01106.hp1
HG01192.hp1
HG01346.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02976.hp2
HG03130.hp1
HG03492.hp1
HG04199.hp1
NA18522.hp1
NA19030.hp1
NA19043.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1835-2822C>T
c.1835-2822C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 20/24 chrX 68066999
chrX:68067317 A
A
 C
C
 26 a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
others(23): Show 
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0013g0042
a0001c0001t0030g0155
a0002c0002t0003g0001
 26 HG00099.hp2
HG01099.hp1
HG01106.hp1
others(23): Show 
HG00099.hp2
HG01099.hp1
HG01106.hp1
HG01192.hp1
HG01243.hp1
HG01346.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02976.hp2
HG03130.hp1
HG03492.hp1
HG04199.hp1
NA18522.hp1
NA19030.hp1
NA19043.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1835-3140T>G
c.1835-3140T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 20/24 chrX 68067317
chrX:68067495 T
T
 G
G
 154 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(151): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 154 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(151): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1835-3318A>C
c.1835-3318A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 20/24 chrX 68067495
chrX:68067732 G
G
 A
A
 3 a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0021g0150
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0021g0150
 3 HG01081.hp2
HG02055.hp1
HG03471.hp1
HG01081.hp2
HG02055.hp1
HG03471.hp1
 intron_variant MODIFIER c.1835-3555C>T
c.1835-3555C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 20/24 chrX 68067732
chrX:68067910 T
T
 A
A
 4 a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0114
others(1): Show 
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0114
a0001c0001t0002g0115
 4 HG02109.hp2
HG02145.hp1
HG02922.hp1
others(1): Show 
HG02109.hp2
HG02145.hp1
HG02922.hp1
HG03098.hp1
 intron_variant MODIFIER c.1835-3733A>T
c.1835-3733A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 20/24 chrX 68067910
chrX:68068011 A
A
 G
G
 14 a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
others(11): Show 
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0013g0042
a0001c0001t0030g0155
a0002c0002t0003g0001
 14 HG00099.hp2
HG01099.hp1
HG01106.hp1
others(11): Show 
HG00099.hp2
HG01099.hp1
HG01106.hp1
HG01192.hp1
HG01346.hp2
HG02257.hp1
HG02280.hp1
HG02615.hp1
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG03492.hp1
HG04199.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1835-3834T>C
c.1835-3834T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 20/24 chrX 68068011
chrX:68068313 T
T
 C
C
 19 a0001c0001t0002g0134
a0001c0001t0004g0026
a0001c0001t0004g0030
others(16): Show 
a0001c0001t0002g0134
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0021g0150
 19 HG01081.hp2
HG01167.hp1
HG01169.hp1
others(16): Show 
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01891.hp2
HG02055.hp1
HG02486.hp1
HG02559.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02717.hp1
HG02818.hp1
HG02886.hp2
HG02976.hp1
HG03209.hp1
HG03471.hp1
HG03516.hp1
HG03540.hp2
NA18906.hp1
 intron_variant MODIFIER c.1835-4136A>G
c.1835-4136A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 20/24 chrX 68068313
chrX:68068365 G
G
 A
A
 17 a0001c0001t0001g0015
a0001c0001t0002g0006
a0001c0001t0002g0047
others(14): Show 
a0001c0001t0001g0015
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0133
a0001c0001t0002g0144
a0001c0001t0003g0065
a0001c0001t0011g0061
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
 17 HG00280.hp1
HG00673.hp1
HG01891.hp1
others(14): Show 
HG00280.hp1
HG00673.hp1
HG01891.hp1
HG01943.hp1
HG01952.hp1
HG02027.hp1
HG02074.hp1
HG02132.hp1
HG02615.hp2
HG02683.hp1
NA18612.hp1
NA18948.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA19004.hp1
NA19012.hp1
 intron_variant MODIFIER c.1835-4188C>T
c.1835-4188C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 20/24 chrX 68068365
chrX:68068452 C
C
 A
A
 1 a0001c0001t0001g0067
a0001c0001t0001g0067
 1 NA18952.hp1
NA18952.hp1
 intron_variant MODIFIER c.1835-4275G>T
c.1835-4275G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 20/24 chrX 68068452
chrX:68068470 C
C
 CA
CA
 73 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
others(70): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0141
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0003g0065
a0001c0001t0003g0111
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0017g0036
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0004c0005t0012g0024
 73 HG00099.hp1
HG00140.hp1
HG00609.hp1
others(70): Show 
HG00099.hp1
HG00140.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00735.hp1
HG01074.hp1
HG01081.hp1
HG01169.hp2
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01934.hp1
HG01952.hp1
HG02015.hp1
HG02056.hp1
HG02071.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02258.hp1
HG02300.hp1
HG02451.hp1
HG02559.hp1
HG02602.hp1
HG02615.hp2
HG02683.hp2
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG02976.hp2
HG03017.hp1
HG03130.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04228.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18977.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19005.hp1
NA19007.hp1
NA19030.hp1
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.1835-4294dupT
c.1835-4294dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 20/24 chrX 68068470
chrX:68068470 C
C
 CAA
CAA
 21 a0001c0001t0001g0053
a0001c0001t0001g0062
a0001c0001t0001g0140
others(18): Show 
a0001c0001t0001g0053
a0001c0001t0001g0062
a0001c0001t0001g0140
a0001c0001t0003g0018
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0151
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0013g0042
a0001c0001t0024g0007
a0001c0001t0030g0155
a0002c0002t0003g0001
 21 HG00099.hp2
HG01099.hp1
HG01106.hp1
others(18): Show 
HG00099.hp2
HG01099.hp1
HG01106.hp1
HG01192.hp1
HG01346.hp2
HG02257.hp1
HG02280.hp1
HG02572.hp1
HG02615.hp1
HG02723.hp1
HG02723.hp2
HG02818.hp2
HG02895.hp1
HG03492.hp1
HG04199.hp1
NA18522.hp1
NA18966.hp1
NA18974.hp1
NA19000.hp1
NA19009.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1835-4295_1835-429
others(6): Show 
c.1835-4295_1835-4294dupTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 20/24 chrX 68068470
chrX:68068470 C
C
 CAAA
CAAA
 1 a0001c0001t0003g0020
a0001c0001t0003g0020
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.1835-4296_1835-429
others(7): Show 
c.1835-4296_1835-4294dupTTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 20/24 chrX 68068470
chrX:68068470 CA
CA
 C
C
 5 a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
others(2): Show 
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0003c0004t0014g0102
 5 HG00735.hp2
HG02280.hp2
HG02451.hp2
others(2): Show 
HG00735.hp2
HG02280.hp2
HG02451.hp2
HG02886.hp1
HG02922.hp2
 intron_variant MODIFIER c.1835-4294delT
c.1835-4294delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 20/24 chrX 68068470
chrX:68068564 C
C
 T
T
 1 a0001c0001t0006g0013
a0001c0001t0006g0013
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.1835-4387G>A
c.1835-4387G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 20/24 chrX 68068564
chrX:68068642 C
C
 T
T
 2 a0001c0001t0003g0101
a0001c0001t0003g0113
a0001c0001t0003g0101
a0001c0001t0003g0113
 2 HG02723.hp1
HG02723.hp2
HG02723.hp1
HG02723.hp2
 intron_variant MODIFIER c.1835-4465G>A
c.1835-4465G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 20/24 chrX 68068642
chrX:68068941 T
T
 C
C
 9 a0001c0001t0002g0134
a0001c0001t0004g0026
a0001c0001t0004g0030
others(6): Show 
a0001c0001t0002g0134
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0021g0150
 9 HG01081.hp2
HG01167.hp1
HG01169.hp1
others(6): Show 
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG02055.hp1
HG02559.hp2
HG02647.hp1
HG02886.hp2
HG03471.hp1
NA18906.hp1
 intron_variant MODIFIER c.1834+4211A>G
c.1834+4211A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 20/24 chrX 68068941
chrX:68069325 T
T
 TA
TA
 2 a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0008g0096
a0001c0001t0008g0112
 2 HG02257.hp1
HG02818.hp2
HG02257.hp1
HG02818.hp2
 intron_variant MODIFIER c.1834+3826dupT
c.1834+3826dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 20/24 chrX 68069325
chrX:68069557 T
T
 C
C
 2 a0001c0001t0001g0080
a0001c0001t0023g0037
a0001c0001t0001g0080
a0001c0001t0023g0037
 2 HG03017.hp1
HG04115.hp1
HG03017.hp1
HG04115.hp1
 intron_variant MODIFIER c.1834+3595A>G
c.1834+3595A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 20/24 chrX 68069557
chrX:68069818 G
G
 A
A
 1 a0001c0001t0006g0013
a0001c0001t0006g0013
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.1834+3334C>T
c.1834+3334C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 20/24 chrX 68069818
chrX:68070385 A
A
 T
T
 5 a0001c0001t0003g0101
a0001c0001t0003g0111
a0001c0001t0003g0113
others(2): Show 
a0001c0001t0003g0101
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0151
 5 HG02572.hp1
HG02723.hp1
HG02723.hp2
others(2): Show 
HG02572.hp1
HG02723.hp1
HG02723.hp2
HG02976.hp2
NA18522.hp1
 intron_variant MODIFIER c.1834+2767T>A
c.1834+2767T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 20/24 chrX 68070385
chrX:68070417 G
G
 A
A
 3 a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
 3 HG02280.hp2
HG02451.hp2
HG02922.hp2
HG02280.hp2
HG02451.hp2
HG02922.hp2
 intron_variant MODIFIER c.1834+2735C>T
c.1834+2735C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 20/24 chrX 68070417
chrX:68070445 T
T
 G
G
 1 a0001c0001t0016g0119
a0001c0001t0016g0119
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.1834+2707A>C
c.1834+2707A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 20/24 chrX 68070445
chrX:68070499 G
G
 C
C
 1 a0001c0001t0001g0082
a0001c0001t0001g0082
 1 HG03710.hp1
HG03710.hp1
 intron_variant MODIFIER c.1834+2653C>G
c.1834+2653C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 20/24 chrX 68070499
chrX:68070944 A
A
 G
G
 1 a0001c0001t0004g0004
a0001c0001t0004g0004
 1 HG02109.hp1
HG02109.hp1
 intron_variant MODIFIER c.1834+2208T>C
c.1834+2208T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 20/24 chrX 68070944
chrX:68071221 G
G
 C
C
 1 a0001c0001t0019g0003
a0001c0001t0019g0003
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.1834+1931C>G
c.1834+1931C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 20/24 chrX 68071221
chrX:68071546 G
G
 T
T
 1 a0001c0001t0019g0003
a0001c0001t0019g0003
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.1834+1606C>A
c.1834+1606C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 20/24 chrX 68071546
chrX:68071640 G
G
 A
A
 1 a0001c0001t0027g0072
a0001c0001t0027g0072
 1 HG00099.hp1
HG00099.hp1
 intron_variant MODIFIER c.1834+1512C>T
c.1834+1512C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 20/24 chrX 68071640
chrX:68071656 G
G
 T
T
 1 a0001c0001t0028g0084
a0001c0001t0028g0084
 1 NA19070.hp1
NA19070.hp1
 intron_variant MODIFIER c.1834+1496C>A
c.1834+1496C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 20/24 chrX 68071656
chrX:68071963 A
A
 G
G
 1 a0001c0001t0008g0112
a0001c0001t0008g0112
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.1834+1189T>C
c.1834+1189T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 20/24 chrX 68071963
chrX:68072639 G
G
 A
A
 17 a0001c0001t0001g0015
a0001c0001t0002g0006
a0001c0001t0002g0047
others(14): Show 
a0001c0001t0001g0015
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0133
a0001c0001t0002g0144
a0001c0001t0003g0065
a0001c0001t0011g0061
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
 17 HG00280.hp1
HG00673.hp1
HG01891.hp1
others(14): Show 
HG00280.hp1
HG00673.hp1
HG01891.hp1
HG01943.hp1
HG01952.hp1
HG02027.hp1
HG02074.hp1
HG02132.hp1
HG02615.hp2
HG02683.hp1
NA18612.hp1
NA18948.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA19004.hp1
NA19012.hp1
 intron_variant MODIFIER c.1834+513C>T
c.1834+513C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 20/24 chrX 68072639
chrX:68072652 G
G
 A
A
 1 a0001c0001t0003g0109
a0001c0001t0003g0109
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.1834+500C>T
c.1834+500C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 20/24 chrX 68072652
chrX:68073407 C
C
 A
A
 1 a0001c0001t0002g0019
a0001c0001t0002g0019
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.1687-108G>T
c.1687-108G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68073407
chrX:68073476 G
G
 C
C
 1 a0001c0001t0001g0008
a0001c0001t0001g0008
 1 HG01346.hp1
HG01346.hp1
 intron_variant MODIFIER c.1687-177C>G
c.1687-177C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68073476
chrX:68073491 C
C
 T
T
 5 a0001c0001t0003g0035
a0001c0001t0003g0076
a0001c0001t0003g0100
others(2): Show 
a0001c0001t0003g0035
a0001c0001t0003g0076
a0001c0001t0003g0100
a0001c0001t0013g0042
a0002c0002t0003g0001
 5 HG01099.hp1
HG01106.hp1
HG01192.hp1
others(2): Show 
HG01099.hp1
HG01106.hp1
HG01192.hp1
HG01346.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1687-192G>A
c.1687-192G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68073491
chrX:68073975 G
G
 A
A
 2 a0001c0001t0001g0039
a0001c0001t0001g0093
a0001c0001t0001g0039
a0001c0001t0001g0093
 2 HG00735.hp1
HG02698.hp1
HG00735.hp1
HG02698.hp1
 intron_variant MODIFIER c.1687-676C>T
c.1687-676C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68073975
chrX:68074135 C
C
 G
G
 1 a0001c0001t0026g0056
a0001c0001t0026g0056
 1 NA20905.hp1
NA20905.hp1
 intron_variant MODIFIER c.1687-836G>C
c.1687-836G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68074135
chrX:68074148 C
C
 G
G
 3 a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0021g0150
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0021g0150
 3 HG01081.hp2
HG02055.hp1
HG03471.hp1
HG01081.hp2
HG02055.hp1
HG03471.hp1
 intron_variant MODIFIER c.1687-849G>C
c.1687-849G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68074148
chrX:68074163 C
C
 G
G
 1 a0001c0001t0001g0077
a0001c0001t0001g0077
 1 HG02071.hp1
HG02071.hp1
 intron_variant MODIFIER c.1687-864G>C
c.1687-864G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68074163
chrX:68074206 T
T
 C
C
 1 a0001c0001t0017g0036
a0001c0001t0017g0036
 1 HG01952.hp1
HG01952.hp1
 intron_variant MODIFIER c.1687-907A>G
c.1687-907A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68074206
chrX:68074414 C
C
 T
T
 3 a0001c0001t0004g0004
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0004g0004
a0001c0001t0009g0128
a0001c0001t0009g0129
 3 HG01243.hp1
HG02109.hp1
HG02451.hp1
HG01243.hp1
HG02109.hp1
HG02451.hp1
 intron_variant MODIFIER c.1687-1115G>A
c.1687-1115G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68074414
chrX:68074511 G
G
 A
A
 1 a0001c0001t0001g0009
a0001c0001t0001g0009
 1 NA18995.hp1
NA18995.hp1
 intron_variant MODIFIER c.1687-1212C>T
c.1687-1212C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68074511
chrX:68074788 A
A
 G
G
 1 a0001c0001t0001g0027
a0001c0001t0001g0027
 1 NA18994.hp1
NA18994.hp1
 intron_variant MODIFIER c.1687-1489T>C
c.1687-1489T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68074788
chrX:68075295 C
C
 T
T
 1 a0001c0001t0004g0005
a0001c0001t0004g0005
 1 HG00735.hp2
HG00735.hp2
 intron_variant MODIFIER c.1687-1996G>A
c.1687-1996G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68075295
chrX:68075525 T
T
 C
C
 1 a0001c0001t0001g0077
a0001c0001t0001g0077
 1 HG02071.hp1
HG02071.hp1
 intron_variant MODIFIER c.1687-2226A>G
c.1687-2226A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68075525
chrX:68075565 G
G
 A
A
 1 a0001c0001t0001g0066
a0001c0001t0001g0066
 1 NA18990.hp1
NA18990.hp1
 intron_variant MODIFIER c.1687-2266C>T
c.1687-2266C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68075565
chrX:68075779 C
C
 CA
CA
 4 a0001c0001t0002g0021
a0001c0001t0002g0116
a0001c0001t0007g0022
others(1): Show 
a0001c0001t0002g0021
a0001c0001t0002g0116
a0001c0001t0007g0022
a0001c0001t0017g0036
 4 HG01952.hp1
HG02257.hp2
HG03579.hp1
others(1): Show 
HG01952.hp1
HG02257.hp2
HG03579.hp1
NA19030.hp2
 intron_variant MODIFIER c.1687-2481dupT
c.1687-2481dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68075779
chrX:68075779 CA
CA
 C
C
 87 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
others(84): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0133
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0006g0013
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0013g0042
a0001c0001t0019g0003
a0001c0001t0023g0037
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 87 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(84): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00735.hp1
HG00735.hp2
HG01074.hp1
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG02015.hp1
HG02056.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02257.hp1
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02922.hp2
HG02976.hp2
HG03017.hp1
HG03130.hp1
HG03490.hp1
HG03492.hp1
HG03688.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18955.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18988.hp1
NA18994.hp1
NA18995.hp1
NA19005.hp1
NA19009.hp1
NA19030.hp1
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1687-2481delT
c.1687-2481delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68075779
chrX:68075779 CAA
CAA
 C
C
 6 a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0053
others(3): Show 
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0053
a0001c0001t0001g0067
a0001c0001t0001g0092
a0001c0001t0024g0007
 6 NA18747.hp1
NA18952.hp1
NA18960.hp1
others(3): Show 
NA18747.hp1
NA18952.hp1
NA18960.hp1
NA18974.hp1
NA19000.hp1
NA19007.hp1
 intron_variant MODIFIER c.1687-2482_1687-248
others(6): Show 
c.1687-2482_1687-2481delTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68075779
chrX:68075793 A
A
 C
C
 1 a0001c0001t0001g0008
a0001c0001t0001g0008
 1 HG01346.hp1
HG01346.hp1
 intron_variant MODIFIER c.1687-2494T>G
c.1687-2494T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68075793
chrX:68075898 C
C
 G
G
 2 a0001c0001t0004g0005
a0001c0001t0019g0003
a0001c0001t0004g0005
a0001c0001t0019g0003
 2 HG00735.hp2
HG02809.hp2
HG00735.hp2
HG02809.hp2
 intron_variant MODIFIER c.1687-2599G>C
c.1687-2599G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68075898
chrX:68076286 T
T
 C
C
 24 a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
others(21): Show 
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0013g0042
a0001c0001t0030g0155
a0002c0002t0003g0001
 24 HG00099.hp2
HG01099.hp1
HG01106.hp1
others(21): Show 
HG00099.hp2
HG01099.hp1
HG01106.hp1
HG01192.hp1
HG01346.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02976.hp2
HG03130.hp1
HG03492.hp1
HG04199.hp1
NA18522.hp1
NA19030.hp1
NA19043.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1687-2987A>G
c.1687-2987A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68076286
chrX:68076539 T
T
 C
C
 1 a0001c0001t0001g0044
a0001c0001t0001g0044
 1 HG03942.hp1
HG03942.hp1
 intron_variant MODIFIER c.1687-3240A>G
c.1687-3240A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68076539
chrX:68077012 G
G
 A
A
 68 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
others(65): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0133
a0001c0001t0003g0065
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0004c0005t0012g0024
 68 HG00099.hp1
HG00140.hp1
HG00609.hp1
others(65): Show 
HG00099.hp1
HG00140.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01169.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG02015.hp1
HG02056.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02300.hp1
HG02602.hp1
HG02615.hp2
HG02683.hp2
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG03017.hp1
HG03490.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04228.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.1687-3713C>T
c.1687-3713C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68077012
chrX:68077048 C
C
 T
T
 119 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
others(116): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0133
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0013g0042
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 119 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(116): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02135.hp1
HG02257.hp1
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03130.hp1
HG03209.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp2
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19030.hp1
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1687-3749G>A
c.1687-3749G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68077048
chrX:68077249 A
A
 G
G
 121 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
others(118): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0133
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0013g0042
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 121 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(118): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02135.hp1
HG02257.hp1
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03130.hp1
HG03209.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp2
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19030.hp1
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1687-3950T>C
c.1687-3950T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68077249
chrX:68077572 TATG
TATG
 T
T
 1 a0001c0001t0002g0135
a0001c0001t0002g0135
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.1687-4276_1687-427
others(7): Show 
c.1687-4276_1687-4274delCAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68077572
chrX:68077667 A
A
 G
G
 1 a0001c0001t0004g0004
a0001c0001t0004g0004
 1 HG02109.hp1
HG02109.hp1
 intron_variant MODIFIER c.1687-4368T>C
c.1687-4368T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68077667
chrX:68077830 G
G
 A
A
 3 a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
 3 HG02280.hp2
HG02451.hp2
HG02922.hp2
HG02280.hp2
HG02451.hp2
HG02922.hp2
 intron_variant MODIFIER c.1687-4531C>T
c.1687-4531C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68077830
chrX:68078154 G
G
 A
A
 2 a0001c0001t0001g0079
a0001c0001t0001g0090
a0001c0001t0001g0079
a0001c0001t0001g0090
 2 HG01433.hp1
NA20752.hp1
HG01433.hp1
NA20752.hp1
 intron_variant MODIFIER c.1687-4855C>T
c.1687-4855C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68078154
chrX:68078516 T
T
 C
C
 1 a0001c0001t0003g0122
a0001c0001t0003g0122
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.1687-5217A>G
c.1687-5217A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68078516
chrX:68078716 T
T
 C
C
 3 a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
 3 HG02280.hp2
HG02451.hp2
HG02922.hp2
HG02280.hp2
HG02451.hp2
HG02922.hp2
 intron_variant MODIFIER c.1687-5417A>G
c.1687-5417A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68078716
chrX:68078811 C
C
 T
T
 2 a0001c0001t0001g0039
a0001c0001t0001g0093
a0001c0001t0001g0039
a0001c0001t0001g0093
 2 HG00735.hp1
HG02698.hp1
HG00735.hp1
HG02698.hp1
 intron_variant MODIFIER c.1687-5512G>A
c.1687-5512G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68078811
chrX:68078958 C
C
 T
T
 3 a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
 3 HG02280.hp2
HG02451.hp2
HG02922.hp2
HG02280.hp2
HG02451.hp2
HG02922.hp2
 intron_variant MODIFIER c.1687-5659G>A
c.1687-5659G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68078958
chrX:68078983 CAAAA
CAAAA
 C
C
 1 a0001c0001t0019g0003
a0001c0001t0019g0003
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.1687-5688_1687-568
others(8): Show 
c.1687-5688_1687-5685delTTTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68078983
chrX:68078984 A
A
 AAAAT
AAAAT
 36 a0001c0001t0001g0028
a0001c0001t0001g0041
a0001c0001t0001g0060
others(33): Show 
a0001c0001t0001g0028
a0001c0001t0001g0041
a0001c0001t0001g0060
a0001c0001t0001g0069
a0001c0001t0001g0098
a0001c0001t0001g0140
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0124
a0001c0001t0002g0127
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0010
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0006g0013
a0001c0001t0006g0106
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0015g0148
a0001c0001t0017g0036
a0001c0001t0022g0103
a0001c0001t0028g0084
a0001c0001t0029g0031
a0004c0005t0012g0024
 36 HG00140.hp1
HG01081.hp1
HG01169.hp2
others(33): Show 
HG00140.hp1
HG01081.hp1
HG01169.hp2
HG01243.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02132.hp1
HG02257.hp1
HG02258.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp2
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02818.hp2
HG02976.hp2
HG03209.hp1
HG03516.hp1
HG03540.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18955.hp1
NA18962.hp1
NA18966.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA19007.hp1
NA19012.hp1
NA19070.hp1
 intron_variant MODIFIER c.1687-5689_1687-568
others(8): Show 
c.1687-5689_1687-5686dupATTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68078984
chrX:68078984 A
A
 AAAATAAA
others(1): Show 
AAAATAAAT
 13 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0062
others(10): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0077
a0001c0001t0001g0088
a0001c0001t0002g0047
a0001c0001t0002g0083
a0001c0001t0003g0118
a0001c0001t0004g0117
a0001c0001t0006g0105
a0001c0001t0018g0104
a0001c0001t0025g0087
 13 HG00280.hp1
HG00673.hp1
HG01346.hp1
others(10): Show 
HG00280.hp1
HG00673.hp1
HG01346.hp1
HG01891.hp2
HG02056.hp1
HG02071.hp1
HG02572.hp1
HG02886.hp2
NA18943.hp1
NA18948.hp1
NA18990.hp1
NA19004.hp1
NA19009.hp1
 intron_variant MODIFIER c.1687-5693_1687-568
others(12): Show 
c.1687-5693_1687-5686dupATTTATTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68078984
chrX:68078984 A
A
 AAAATAAA
others(5): Show 
AAAATAAATAAAT
 1 a0001c0001t0002g0123
a0001c0001t0002g0123
 1 HG02027.hp1
HG02027.hp1
 intron_variant MODIFIER c.1687-5697_1687-568
others(16): Show 
c.1687-5697_1687-5686dupATTTATTTATTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68078984
chrX:68078984 AAAATAAA
others(1): Show 
AAAATAAAT
 A
A
 2 a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0081
a0001c0001t0003g0091
 2 HG00099.hp2
HG03492.hp1
HG00099.hp2
HG03492.hp1
 intron_variant MODIFIER c.1687-5693_1687-568
others(12): Show 
c.1687-5693_1687-5686delATTTATTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68078984
chrX:68078984 AAAATAAA
others(5): Show 
AAAATAAATAAAT
 A
A
 1 a0001c0001t0001g0154
a0001c0001t0001g0154
 1 NA19005.hp1
NA19005.hp1
 intron_variant MODIFIER c.1687-5697_1687-568
others(16): Show 
c.1687-5697_1687-5686delATTTATTTATTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68078984
chrX:68079263 A
A
 G
G
 2 a0001c0001t0002g0083
a0001c0001t0011g0061
a0001c0001t0002g0083
a0001c0001t0011g0061
 2 NA18948.hp1
NA18982.hp1
NA18948.hp1
NA18982.hp1
 intron_variant MODIFIER c.1687-5964T>C
c.1687-5964T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68079263
chrX:68079472 C
C
 T
T
 69 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
others(66): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0133
a0001c0001t0003g0065
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0004c0005t0012g0024
 69 HG00099.hp1
HG00140.hp1
HG00609.hp1
others(66): Show 
HG00099.hp1
HG00140.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01169.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG02015.hp1
HG02056.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02300.hp1
HG02602.hp1
HG02615.hp2
HG02683.hp2
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG03017.hp1
HG03490.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04228.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.1687-6173G>A
c.1687-6173G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68079472
chrX:68079917 T
T
 C
C
 2 a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0048
a0001c0001t0001g0050
 2 HG00609.hp1
HG02738.hp1
HG00609.hp1
HG02738.hp1
 intron_variant MODIFIER c.1687-6618A>G
c.1687-6618A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68079917
chrX:68079960 G
G
 C
C
 4 a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
others(1): Show 
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
 4 HG02717.hp1
HG02818.hp1
HG02976.hp1
others(1): Show 
HG02717.hp1
HG02818.hp1
HG02976.hp1
HG03540.hp2
 intron_variant MODIFIER c.1687-6661C>G
c.1687-6661C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68079960
chrX:68080087 G
G
 A
A
 4 a0001c0001t0001g0008
a0001c0001t0001g0064
a0001c0001t0022g0103
others(1): Show 
a0001c0001t0001g0008
a0001c0001t0001g0064
a0001c0001t0022g0103
a0002c0002t0001g0002
 4 HG01081.hp1
HG01346.hp1
HG01358.hp1
others(1): Show 
HG01081.hp1
HG01346.hp1
HG01358.hp1
HG02300.hp1
 intron_variant MODIFIER c.1687-6788C>T
c.1687-6788C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68080087
chrX:68080133 C
C
 T
T
 1 a0001c0001t0027g0072
a0001c0001t0027g0072
 1 HG00099.hp1
HG00099.hp1
 intron_variant MODIFIER c.1687-6834G>A
c.1687-6834G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68080133
chrX:68080249 A
A
 G
G
 1 a0001c0001t0002g0057
a0001c0001t0002g0057
 1 NA19012.hp1
NA19012.hp1
 intron_variant MODIFIER c.1687-6950T>C
c.1687-6950T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68080249
chrX:68080777 C
C
 T
T
 24 a0001c0001t0001g0143
a0001c0001t0003g0018
a0001c0001t0003g0020
others(21): Show 
a0001c0001t0001g0143
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0151
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0013g0042
a0001c0001t0030g0155
a0002c0002t0003g0001
 24 HG00099.hp2
HG01099.hp1
HG01106.hp1
others(21): Show 
HG00099.hp2
HG01099.hp1
HG01106.hp1
HG01192.hp1
HG01346.hp2
HG02257.hp1
HG02280.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02976.hp2
HG03130.hp1
HG03490.hp1
HG03492.hp1
HG04199.hp1
NA18522.hp1
NA19030.hp1
NA19043.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1687-7478G>A
c.1687-7478G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68080777
chrX:68081190 T
T
 C
C
 4 a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
others(1): Show 
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
 4 HG00735.hp2
HG02280.hp2
HG02451.hp2
others(1): Show 
HG00735.hp2
HG02280.hp2
HG02451.hp2
HG02922.hp2
 intron_variant MODIFIER c.1687-7891A>G
c.1687-7891A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68081190
chrX:68081198 C
C
 CT
CT
 1 a0001c0001t0001g0145
a0001c0001t0001g0145
 1 NA18944.hp1
NA18944.hp1
 intron_variant MODIFIER c.1687-7900dupA
c.1687-7900dupA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68081198
chrX:68081285 G
G
 C
C
 13 a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
others(10): Show 
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
 13 HG01167.hp1
HG01169.hp1
HG01891.hp2
others(10): Show 
HG01167.hp1
HG01169.hp1
HG01891.hp2
HG02486.hp1
HG02630.hp2
HG02647.hp1
HG02717.hp1
HG02818.hp1
HG02886.hp2
HG02976.hp1
HG03209.hp1
HG03516.hp1
HG03540.hp2
 intron_variant MODIFIER c.1687-7986C>G
c.1687-7986C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68081285
chrX:68081788 G
G
 A
A
 5 a0001c0001t0004g0004
a0001c0001t0004g0026
a0001c0001t0004g0030
others(2): Show 
a0001c0001t0004g0004
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0021g0150
 5 HG01081.hp2
HG02055.hp1
HG02109.hp1
others(2): Show 
HG01081.hp2
HG02055.hp1
HG02109.hp1
HG03471.hp1
NA18906.hp1
 intron_variant MODIFIER c.1687-8489C>T
c.1687-8489C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68081788
chrX:68082008 C
C
 T
T
 1 a0001c0001t0004g0004
a0001c0001t0004g0004
 1 HG02109.hp1
HG02109.hp1
 intron_variant MODIFIER c.1687-8709G>A
c.1687-8709G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68082008
chrX:68082041 G
G
 T
T
 4 a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
others(1): Show 
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0021g0150
 4 HG01081.hp2
HG02055.hp1
HG03471.hp1
others(1): Show 
HG01081.hp2
HG02055.hp1
HG03471.hp1
NA18906.hp1
 intron_variant MODIFIER c.1687-8742C>A
c.1687-8742C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68082041
chrX:68082101 C
C
 G
G
 105 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
others(102): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0133
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0006g0013
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0013g0042
a0001c0001t0019g0003
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 105 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(102): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02135.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02922.hp2
HG02976.hp2
HG03017.hp1
HG03130.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19030.hp1
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1687-8802G>C
c.1687-8802G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68082101
chrX:68082123 G
G
 A
A
 1 a0001c0001t0003g0139
a0001c0001t0003g0139
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.1687-8824C>T
c.1687-8824C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68082123
chrX:68082430 A
A
 G
G
 14 a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
others(11): Show 
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0013g0042
a0001c0001t0030g0155
a0002c0002t0003g0001
 14 HG00099.hp2
HG01099.hp1
HG01106.hp1
others(11): Show 
HG00099.hp2
HG01099.hp1
HG01106.hp1
HG01192.hp1
HG01346.hp2
HG02257.hp1
HG02280.hp1
HG02615.hp1
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG03492.hp1
HG04199.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1687-9131T>C
c.1687-9131T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68082430
chrX:68082681 G
G
 C
C
 11 a0001c0001t0002g0134
a0001c0001t0005g0107
a0001c0001t0005g0110
others(8): Show 
a0001c0001t0002g0134
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
 11 HG01167.hp1
HG01169.hp1
HG02486.hp1
others(8): Show 
HG01167.hp1
HG01169.hp1
HG02486.hp1
HG02559.hp2
HG02630.hp2
HG02647.hp1
HG02717.hp1
HG02818.hp1
HG02886.hp2
HG02976.hp1
HG03540.hp2
 intron_variant MODIFIER c.1687-9382C>G
c.1687-9382C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68082681
chrX:68082981 G
G
 A
A
 83 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
others(80): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0133
a0001c0001t0003g0065
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0006g0013
a0001c0001t0019g0003
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0004c0005t0012g0024
 83 HG00099.hp1
HG00140.hp1
HG00609.hp1
others(80): Show 
HG00099.hp1
HG00140.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01169.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02135.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp1
HG02683.hp2
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02922.hp2
HG03017.hp1
HG03209.hp1
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04228.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.1687-9682C>T
c.1687-9682C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68082981
chrX:68082992 C
C
 T
T
 76 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
others(73): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0133
a0001c0001t0003g0065
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0019g0003
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0004c0005t0012g0024
 76 HG00099.hp1
HG00140.hp1
HG00609.hp1
others(73): Show 
HG00099.hp1
HG00140.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01169.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG02015.hp1
HG02056.hp1
HG02071.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02602.hp1
HG02615.hp2
HG02683.hp2
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02922.hp2
HG03017.hp1
HG03490.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04228.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.1687-9693G>A
c.1687-9693G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68082992
chrX:68082993 A
A
 G
G
 85 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
others(82): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0133
a0001c0001t0003g0065
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0006g0013
a0001c0001t0019g0003
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0004c0005t0012g0024
 85 HG00099.hp1
HG00140.hp1
HG00609.hp1
others(82): Show 
HG00099.hp1
HG00140.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01169.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02135.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp1
HG02683.hp2
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02922.hp2
HG03017.hp1
HG03209.hp1
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04228.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.1687-9694T>C
c.1687-9694T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68082993
chrX:68083054 C
C
 CT
CT
 19 a0001c0001t0002g0014
a0001c0001t0002g0115
a0001c0001t0002g0134
others(16): Show 
a0001c0001t0002g0014
a0001c0001t0002g0115
a0001c0001t0002g0134
a0001c0001t0003g0018
a0001c0001t0003g0035
a0001c0001t0003g0076
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0023
a0001c0001t0009g0128
a0001c0001t0013g0042
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0030g0155
a0002c0002t0003g0001
 19 HG00738.hp1
HG01099.hp1
HG01167.hp1
others(16): Show 
HG00738.hp1
HG01099.hp1
HG01167.hp1
HG01169.hp1
HG01192.hp1
HG01346.hp2
HG02145.hp1
HG02280.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02647.hp1
HG02809.hp2
HG02886.hp2
HG02895.hp1
HG03098.hp1
NA19043.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1687-9756dupA
c.1687-9756dupA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68083054
chrX:68083054 C
C
 CTT
CTT
 7 a0001c0001t0001g0080
a0001c0001t0003g0063
a0001c0001t0003g0100
others(4): Show 
a0001c0001t0001g0080
a0001c0001t0003g0063
a0001c0001t0003g0100
a0001c0001t0007g0022
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0009g0129
 7 HG01106.hp1
HG01243.hp1
HG03017.hp1
others(4): Show 
HG01106.hp1
HG01243.hp1
HG03017.hp1
HG03130.hp1
HG04199.hp1
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.1687-9757_1687-975
others(6): Show 
c.1687-9757_1687-9756dupAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68083054
chrX:68083054 C
C
 CTTT
CTTT
 23 a0001c0001t0001g0016
a0001c0001t0001g0025
a0001c0001t0001g0050
others(20): Show 
a0001c0001t0001g0016
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0064
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0086
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0004g0094
a0001c0001t0022g0103
a0001c0001t0028g0084
a0001c0001t0029g0031
a0002c0002t0001g0002
a0004c0005t0012g0024
 23 HG00140.hp1
HG00609.hp1
HG01074.hp1
others(20): Show 
HG00140.hp1
HG00609.hp1
HG01074.hp1
HG01081.hp1
HG01169.hp2
HG01256.hp1
HG01358.hp1
HG01515.hp1
HG02071.hp1
HG02129.hp1
HG02135.hp1
HG02300.hp1
HG03209.hp1
HG03490.hp1
HG04228.hp1
NA18962.hp1
NA18977.hp1
NA19005.hp1
NA19056.hp1
NA19060.hp1
NA19068.hp1
NA19070.hp1
NA20805.hp1
 intron_variant MODIFIER c.1687-9758_1687-975
others(7): Show 
c.1687-9758_1687-9756dupAAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68083054
chrX:68083054 C
C
 CTTTT
CTTTT
 29 a0001c0001t0001g0008
a0001c0001t0001g0017
a0001c0001t0001g0029
others(26): Show 
a0001c0001t0001g0008
a0001c0001t0001g0017
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0051
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0027g0072
a0001c0003t0010g0085
 29 HG00099.hp1
HG00621.hp1
HG00642.hp1
others(26): Show 
HG00099.hp1
HG00621.hp1
HG00642.hp1
HG00735.hp1
HG01261.hp1
HG01346.hp1
HG01433.hp1
HG01891.hp2
HG01928.hp1
HG02015.hp1
HG02056.hp1
HG02602.hp1
HG02683.hp2
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG03516.hp1
HG03942.hp1
NA18944.hp1
NA18945.hp1
NA18960.hp1
NA18971.hp1
NA18988.hp1
NA19007.hp1
NA19009.hp1
NA19066.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
 intron_variant MODIFIER c.1687-9759_1687-975
others(8): Show 
c.1687-9759_1687-9756dupAAAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68083054
chrX:68083054 C
C
 CTTTTT
CTTTTT
 13 a0001c0001t0001g0028
a0001c0001t0001g0043
a0001c0001t0001g0053
others(10): Show 
a0001c0001t0001g0028
a0001c0001t0001g0043
a0001c0001t0001g0053
a0001c0001t0001g0067
a0001c0001t0001g0082
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0002g0133
a0001c0001t0003g0065
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0003t0010g0089
 13 HG01069.hp1
HG01891.hp1
HG02083.hp1
others(10): Show 
HG01069.hp1
HG01891.hp1
HG02083.hp1
HG02615.hp2
HG03688.hp1
HG03710.hp1
NA18747.hp1
NA18943.hp1
NA18952.hp1
NA18955.hp1
NA18974.hp1
NA19000.hp1
NA20905.hp1
 intron_variant MODIFIER c.1687-9760_1687-975
others(9): Show 
c.1687-9760_1687-9756dupAAAAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68083054
chrX:68083054 C
C
 CTTTTTT
CTTTTTT
 7 a0001c0001t0001g0009
a0001c0001t0001g0027
a0001c0001t0001g0074
others(4): Show 
a0001c0001t0001g0009
a0001c0001t0001g0027
a0001c0001t0001g0074
a0001c0001t0001g0097
a0001c0001t0001g0140
a0001c0001t0001g0147
a0001c0001t0004g0012
 7 HG01258.hp1
HG01934.hp1
HG02922.hp2
others(4): Show 
HG01258.hp1
HG01934.hp1
HG02922.hp2
NA18966.hp1
NA18970.hp1
NA18994.hp1
NA18995.hp1
 intron_variant MODIFIER c.1687-9761_1687-975
others(10): Show 
c.1687-9761_1687-9756dupAAAAAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68083054
chrX:68083054 C
C
 CTTTTTTT
CTTTTTTT
 4 a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
others(1): Show 
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0006g0013
 4 HG00735.hp2
HG02280.hp2
HG02451.hp2
others(1): Show 
HG00735.hp2
HG02280.hp2
HG02451.hp2
HG02630.hp1
 intron_variant MODIFIER c.1687-9762_1687-975
others(11): Show 
c.1687-9762_1687-9756dupAAAAAAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68083054
chrX:68083054 C
C
 CTTTTTTT
others(5): Show 
CTTTTTTTTTTTT
 1 a0001c0001t0004g0030
a0001c0001t0004g0030
 1 HG01081.hp2
HG01081.hp2
 intron_variant MODIFIER c.1687-9767_1687-975
others(16): Show 
c.1687-9767_1687-9756dupAAAAAAAAAAAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68083054
chrX:68083054 C
C
 CTTTTTTT
others(6): Show 
CTTTTTTTTTTTTT
 2 a0001c0001t0004g0034
a0001c0001t0021g0150
a0001c0001t0004g0034
a0001c0001t0021g0150
 2 HG02055.hp1
HG03471.hp1
HG02055.hp1
HG03471.hp1
 intron_variant MODIFIER c.1687-9768_1687-975
others(17): Show 
c.1687-9768_1687-9756dupAAAAAAAAAAAAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68083054
chrX:68083054 C
C
 CTTTTTTT
others(7): Show 
CTTTTTTTTTTTTTT
 2 a0001c0001t0004g0004
a0001c0001t0004g0026
a0001c0001t0004g0004
a0001c0001t0004g0026
 2 HG02109.hp1
NA18906.hp1
HG02109.hp1
NA18906.hp1
 intron_variant MODIFIER c.1687-9769_1687-975
others(18): Show 
c.1687-9769_1687-9756dupAAAAAAAAAAAAAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68083054
chrX:68083054 CT
CT
 C
C
 6 a0001c0001t0002g0021
a0001c0001t0003g0109
a0001c0001t0005g0110
others(3): Show 
a0001c0001t0002g0021
a0001c0001t0003g0109
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
 6 HG02257.hp2
HG02615.hp1
HG02717.hp1
others(3): Show 
HG02257.hp2
HG02615.hp1
HG02717.hp1
HG02818.hp1
HG02976.hp1
HG03540.hp2
 intron_variant MODIFIER c.1687-9756delA
c.1687-9756delA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68083054
chrX:68083054 CTTTTTTT
others(3): Show 
CTTTTTTTTTT
 C
C
 1 a0001c0001t0001g0066
a0001c0001t0001g0066
 1 NA18990.hp1
NA18990.hp1
 intron_variant MODIFIER c.1687-9765_1687-975
others(14): Show 
c.1687-9765_1687-9756delAAAAAAAAAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68083054
chrX:68083054 CTTTTTTT
others(6): Show 
CTTTTTTTTTTTTT
 C
C
 1 a0001c0001t0023g0037
a0001c0001t0023g0037
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.1687-9768_1687-975
others(17): Show 
c.1687-9768_1687-9756delAAAAAAAAAAAAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68083054
chrX:68083121 G
G
 A
A
 83 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
others(80): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0133
a0001c0001t0003g0065
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0006g0013
a0001c0001t0019g0003
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0004c0005t0012g0024
 83 HG00099.hp1
HG00140.hp1
HG00609.hp1
others(80): Show 
HG00099.hp1
HG00140.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01169.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02135.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp1
HG02683.hp2
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02922.hp2
HG03017.hp1
HG03209.hp1
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04228.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.1687-9822C>T
c.1687-9822C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68083121
chrX:68083141 C
C
 T
T
 1 a0001c0001t0003g0065
a0001c0001t0003g0065
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.1687-9842G>A
c.1687-9842G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68083141
chrX:68083227 T
T
 C
C
 1 a0001c0001t0004g0004
a0001c0001t0004g0004
 1 HG02109.hp1
HG02109.hp1
 intron_variant MODIFIER c.1687-9928A>G
c.1687-9928A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68083227
chrX:68083293 C
C
 T
T
 1 a0001c0001t0001g0079
a0001c0001t0001g0079
 1 NA20752.hp1
NA20752.hp1
 intron_variant MODIFIER c.1687-9994G>A
c.1687-9994G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68083293
chrX:68083357 C
C
 A
A
 1 a0001c0001t0001g0028
a0001c0001t0001g0028
 1 HG02083.hp1
HG02083.hp1
 intron_variant MODIFIER c.1687-10058G>T
c.1687-10058G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68083357
chrX:68083476 G
G
 C
C
 2 a0001c0001t0002g0133
a0001c0001t0003g0065
a0001c0001t0002g0133
a0001c0001t0003g0065
 2 HG01891.hp1
HG02615.hp2
HG01891.hp1
HG02615.hp2
 intron_variant MODIFIER c.1687-10177C>G
c.1687-10177C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68083476
chrX:68084061 C
C
 T
T
 4 a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0088
others(1): Show 
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0088
a0001c0001t0025g0087
 4 HG02056.hp1
NA18943.hp1
NA18990.hp1
others(1): Show 
HG02056.hp1
NA18943.hp1
NA18990.hp1
NA19009.hp1
 intron_variant MODIFIER c.1687-10762G>A
c.1687-10762G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68084061
chrX:68084331 G
G
 C
C
 4 a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
others(1): Show 
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
 4 HG00735.hp2
HG02280.hp2
HG02451.hp2
others(1): Show 
HG00735.hp2
HG02280.hp2
HG02451.hp2
HG02922.hp2
 intron_variant MODIFIER c.1687-11032C>G
c.1687-11032C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68084331
chrX:68084344 A
A
 AGGGGAGA
others(11): Show 
AGGGGAGAGGGAGGAACGG
 1 a0001c0001t0019g0003
a0001c0001t0019g0003
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.1687-11063_1687-11
others(24): Show 
c.1687-11063_1687-11046dupCCGTTCCTCCCTCTCCCC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68084344
chrX:68084471 A
A
 G
G
 4 a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
others(1): Show 
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
 4 HG00735.hp2
HG02280.hp2
HG02451.hp2
others(1): Show 
HG00735.hp2
HG02280.hp2
HG02451.hp2
HG02922.hp2
 intron_variant MODIFIER c.1687-11172T>C
c.1687-11172T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68084471
chrX:68084609 G
G
 GA
GA
 87 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
others(84): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0133
a0001c0001t0003g0065
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0006g0013
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0019g0003
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0004c0005t0012g0024
 87 HG00099.hp1
HG00140.hp1
HG00609.hp1
others(84): Show 
HG00099.hp1
HG00140.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01169.hp2
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02135.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp1
HG02683.hp2
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02922.hp2
HG03017.hp1
HG03209.hp1
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04228.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.1687-11311dupT
c.1687-11311dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68084609
chrX:68084770 A
A
 C
C
 1 a0001c0001t0006g0013
a0001c0001t0006g0013
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.1687-11471T>G
c.1687-11471T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68084770
chrX:68084819 T
T
 C
C
 5 a0001c0001t0003g0101
a0001c0001t0003g0111
a0001c0001t0003g0113
others(2): Show 
a0001c0001t0003g0101
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0151
 5 HG02572.hp1
HG02723.hp1
HG02723.hp2
others(2): Show 
HG02572.hp1
HG02723.hp1
HG02723.hp2
HG02976.hp2
NA18522.hp1
 intron_variant MODIFIER c.1687-11520A>G
c.1687-11520A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68084819
chrX:68085093 A
A
 G
G
 4 a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
others(1): Show 
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
 4 HG00735.hp2
HG02280.hp2
HG02451.hp2
others(1): Show 
HG00735.hp2
HG02280.hp2
HG02451.hp2
HG02922.hp2
 intron_variant MODIFIER c.1686+11777T>C
c.1686+11777T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68085093
chrX:68085885 T
T
 A
A
 4 a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
others(1): Show 
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0019g0003
 4 HG01891.hp2
HG02809.hp2
HG03209.hp1
others(1): Show 
HG01891.hp2
HG02809.hp2
HG03209.hp1
HG03516.hp1
 intron_variant MODIFIER c.1686+10985A>T
c.1686+10985A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68085885
chrX:68085886 A
A
 G
G
 4 a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
others(1): Show 
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0019g0003
 4 HG01891.hp2
HG02809.hp2
HG03209.hp1
others(1): Show 
HG01891.hp2
HG02809.hp2
HG03209.hp1
HG03516.hp1
 intron_variant MODIFIER c.1686+10984T>C
c.1686+10984T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68085886
chrX:68086135 C
C
 T
T
 1 a0001c0001t0019g0003
a0001c0001t0019g0003
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.1686+10735G>A
c.1686+10735G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68086135
chrX:68086181 C
C
 CAAAAAAA
CAAAAAAA
 1 a0001c0001t0019g0003
a0001c0001t0019g0003
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.1686+10682_1686+10
others(13): Show 
c.1686+10682_1686+10688dupTTTTTTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68086181
chrX:68086181 C
C
 CAAAAAAA
others(1): Show 
CAAAAAAAA
 13 a0001c0001t0001g0053
a0001c0001t0004g0004
a0001c0001t0004g0005
others(10): Show 
a0001c0001t0001g0053
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0006g0013
a0001c0001t0021g0150
 13 HG00735.hp2
HG01081.hp2
HG02055.hp1
others(10): Show 
HG00735.hp2
HG01081.hp2
HG02055.hp1
HG02109.hp1
HG02280.hp2
HG02451.hp2
HG02630.hp1
HG02922.hp2
HG03209.hp1
HG03471.hp1
HG03516.hp1
NA18906.hp1
NA18974.hp1
 intron_variant MODIFIER c.1686+10681_1686+10
others(14): Show 
c.1686+10681_1686+10688dupTTTTTTTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68086181
chrX:68086181 C
C
 CAAAAAAA
others(2): Show 
CAAAAAAAAA
 63 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
others(60): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0028
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0133
a0001c0001t0003g0065
a0001c0001t0004g0117
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0003t0010g0085
a0001c0003t0010g0089
a0004c0005t0012g0024
 63 HG00099.hp1
HG00140.hp1
HG00609.hp1
others(60): Show 
HG00099.hp1
HG00140.hp1
HG00609.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01169.hp2
HG01243.hp1
HG01256.hp1
HG01346.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG02015.hp1
HG02056.hp1
HG02071.hp1
HG02083.hp1
HG02135.hp1
HG02451.hp1
HG02602.hp1
HG02615.hp2
HG02683.hp2
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG03017.hp1
HG03490.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04228.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18977.hp1
NA18990.hp1
NA18995.hp1
NA19000.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.1686+10680_1686+10
others(15): Show 
c.1686+10680_1686+10688dupTTTTTTTTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68086181
chrX:68086181 C
C
 CAAAAAAA
others(3): Show 
CAAAAAAAAAA
 6 a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0051
others(3): Show 
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0051
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0074
 6 HG00621.hp1
HG01258.hp1
HG01261.hp1
others(3): Show 
HG00621.hp1
HG01258.hp1
HG01261.hp1
HG02129.hp1
NA18988.hp1
NA18994.hp1
 intron_variant MODIFIER c.1686+10679_1686+10
others(16): Show 
c.1686+10679_1686+10688dupTTTTTTTTTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68086181
chrX:68086227 T
T
 C
C
 1 a0001c0001t0003g0122
a0001c0001t0003g0122
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.1686+10643A>G
c.1686+10643A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68086227
chrX:68086259 C
C
 G
G
 1 a0001c0001t0020g0099
a0001c0001t0020g0099
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.1686+10611G>C
c.1686+10611G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68086259
chrX:68086298 C
C
 A
A
 10 a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
others(7): Show 
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0008g0096
 10 HG01167.hp1
HG01169.hp1
HG02257.hp1
others(7): Show 
HG01167.hp1
HG01169.hp1
HG02257.hp1
HG02630.hp2
HG02647.hp1
HG02717.hp1
HG02818.hp1
HG02886.hp2
HG02976.hp1
HG03540.hp2
 intron_variant MODIFIER c.1686+10572G>T
c.1686+10572G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68086298
chrX:68086642 C
C
 A
A
 1 a0001c0001t0003g0109
a0001c0001t0003g0109
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.1686+10228G>T
c.1686+10228G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68086642
chrX:68087615 A
A
 G
G
 2 a0001c0001t0002g0133
a0001c0001t0003g0065
a0001c0001t0002g0133
a0001c0001t0003g0065
 2 HG01891.hp1
HG02615.hp2
HG01891.hp1
HG02615.hp2
 intron_variant MODIFIER c.1686+9255T>C
c.1686+9255T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68087615
chrX:68088362 G
G
 A
A
 1 a0001c0001t0001g0029
a0001c0001t0001g0029
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.1686+8508C>T
c.1686+8508C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68088362
chrX:68088416 A
A
 G
G
 2 a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0048
a0001c0001t0001g0050
 2 HG00609.hp1
HG02738.hp1
HG00609.hp1
HG02738.hp1
 intron_variant MODIFIER c.1686+8454T>C
c.1686+8454T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68088416
chrX:68088581 G
G
 A
A
 1 a0001c0001t0003g0151
a0001c0001t0003g0151
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.1686+8289C>T
c.1686+8289C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68088581
chrX:68088646 C
C
 T
T
 2 a0001c0001t0001g0039
a0001c0001t0001g0093
a0001c0001t0001g0039
a0001c0001t0001g0093
 2 HG00735.hp1
HG02698.hp1
HG00735.hp1
HG02698.hp1
 intron_variant MODIFIER c.1686+8224G>A
c.1686+8224G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68088646
chrX:68088755 T
T
 C
C
 1 a0001c0001t0002g0115
a0001c0001t0002g0115
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.1686+8115A>G
c.1686+8115A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68088755
chrX:68089149 A
A
 G
G
 6 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0070
others(3): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0070
a0001c0001t0001g0086
a0001c0001t0001g0097
a0001c0001t0001g0154
 6 HG01256.hp1
NA18970.hp1
NA18971.hp1
others(3): Show 
HG01256.hp1
NA18970.hp1
NA18971.hp1
NA19005.hp1
NA19056.hp1
NA19060.hp1
 intron_variant MODIFIER c.1686+7721T>C
c.1686+7721T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68089149
chrX:68089179 G
G
 A
A
 1 a0001c0001t0019g0003
a0001c0001t0019g0003
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.1686+7691C>T
c.1686+7691C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68089179
chrX:68089360 A
A
 G
G
 1 a0001c0001t0005g0107
a0001c0001t0005g0107
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.1686+7510T>C
c.1686+7510T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68089360
chrX:68089386 G
G
 A
A
 1 a0003c0004t0014g0102
a0003c0004t0014g0102
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.1686+7484C>T
c.1686+7484C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68089386
chrX:68089458 G
G
 T
T
 103 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
others(100): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0133
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0006g0013
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0019g0003
a0001c0001t0021g0150
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 103 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(100): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02135.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02922.hp2
HG02976.hp2
HG03017.hp1
HG03130.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19030.hp1
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1686+7412C>A
c.1686+7412C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68089458
chrX:68089473 G
G
 C
C
 24 a0001c0001t0001g0064
a0001c0001t0003g0018
a0001c0001t0003g0020
others(21): Show 
a0001c0001t0001g0064
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0151
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0112
a0001c0001t0013g0042
a0001c0001t0030g0155
a0002c0002t0001g0002
a0002c0002t0003g0001
 24 HG00099.hp2
HG01099.hp1
HG01106.hp1
others(21): Show 
HG00099.hp2
HG01099.hp1
HG01106.hp1
HG01192.hp1
HG01346.hp2
HG01358.hp1
HG02280.hp1
HG02300.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02976.hp2
HG03130.hp1
HG03492.hp1
HG04199.hp1
NA18522.hp1
NA19030.hp1
NA19043.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1686+7397C>G
c.1686+7397C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68089473
chrX:68089625 G
G
 A
A
 1 a0001c0001t0002g0133
a0001c0001t0002g0133
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.1686+7245C>T
c.1686+7245C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68089625
chrX:68089760 G
G
 A
A
 1 a0001c0001t0001g0145
a0001c0001t0001g0145
 1 NA18944.hp1
NA18944.hp1
 intron_variant MODIFIER c.1686+7110C>T
c.1686+7110C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68089760
chrX:68089787 A
A
 ACAGG
ACAGG
 1 a0001c0001t0001g0016
a0001c0001t0001g0016
 1 HG01256.hp1
HG01256.hp1
 intron_variant MODIFIER c.1686+7079_1686+708
others(8): Show 
c.1686+7079_1686+7082dupCCTG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68089787
chrX:68089836 A
A
 C
C
 1 a0001c0001t0021g0150
a0001c0001t0021g0150
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.1686+7034T>G
c.1686+7034T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68089836
chrX:68089972 ACG
ACG
 A
A
 1 a0001c0001t0001g0090
a0001c0001t0001g0090
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.1686+6896_1686+689
others(6): Show 
c.1686+6896_1686+6897delCG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68089972
chrX:68090242 C
C
 CTG
CTG
 24 a0001c0001t0001g0015
a0001c0001t0001g0038
a0001c0001t0001g0039
others(21): Show 
a0001c0001t0001g0015
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0048
a0001c0001t0001g0077
a0001c0001t0001g0090
a0001c0001t0001g0097
a0001c0001t0001g0143
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0114
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0144
a0001c0001t0006g0013
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0028g0084
a0001c0001t0029g0031
 24 HG00280.hp1
HG00738.hp1
HG01081.hp1
others(21): Show 
HG00280.hp1
HG00738.hp1
HG01081.hp1
HG01433.hp1
HG02027.hp1
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02602.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02738.hp1
HG02922.hp1
HG03098.hp1
HG03490.hp1
NA18612.hp1
NA18948.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA19004.hp1
NA19012.hp1
NA19070.hp1
 intron_variant MODIFIER c.1686+6626_1686+662
others(6): Show 
c.1686+6626_1686+6627dupCA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68090242
chrX:68090242 C
C
 CTGTG
CTGTG
 4 a0001c0001t0002g0047
a0001c0001t0003g0018
a0001c0001t0003g0020
others(1): Show 
a0001c0001t0002g0047
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0030g0155
 4 HG00673.hp1
HG02280.hp1
HG02809.hp1
others(1): Show 
HG00673.hp1
HG02280.hp1
HG02809.hp1
HG02895.hp1
 intron_variant MODIFIER c.1686+6624_1686+662
others(8): Show 
c.1686+6624_1686+6627dupCACA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68090242
chrX:68090242 C
C
 CTGTGTG
CTGTGTG
 1 a0001c0001t0007g0032
a0001c0001t0007g0032
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.1686+6622_1686+662
others(10): Show 
c.1686+6622_1686+6627dupCACACA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68090242
chrX:68090242 C
C
 CTGTGTGT
others(1): Show 
CTGTGTGTG
 9 a0001c0001t0003g0101
a0001c0001t0003g0111
a0001c0001t0003g0113
others(6): Show 
a0001c0001t0003g0101
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0151
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0009g0128
a0001c0001t0009g0129
 9 HG01243.hp1
HG02451.hp1
HG02559.hp1
others(6): Show 
HG01243.hp1
HG02451.hp1
HG02559.hp1
HG02572.hp1
HG02723.hp1
HG02723.hp2
HG02976.hp2
NA18522.hp1
NA19030.hp1
 intron_variant MODIFIER c.1686+6620_1686+662
others(12): Show 
c.1686+6620_1686+6627dupCACACACA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68090242
chrX:68090242 C
C
 CTGTGTGT
others(3): Show 
CTGTGTGTGTG
 12 a0001c0001t0001g0064
a0001c0001t0003g0035
a0001c0001t0003g0063
others(9): Show 
a0001c0001t0001g0064
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0122
a0001c0001t0008g0112
a0001c0001t0013g0042
a0002c0002t0001g0002
a0002c0002t0003g0001
 12 HG01099.hp1
HG01106.hp1
HG01192.hp1
others(9): Show 
HG01099.hp1
HG01106.hp1
HG01192.hp1
HG01346.hp2
HG01358.hp1
HG02300.hp1
HG02615.hp1
HG02818.hp2
HG03492.hp1
HG04199.hp1
NA19043.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1686+6618_1686+662
others(14): Show 
c.1686+6618_1686+6627dupCACACACACA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68090242
chrX:68090242 C
C
 CTGTGTGT
others(5): Show 
CTGTGTGTGTGTG
 1 a0001c0001t0003g0091
a0001c0001t0003g0091
 1 HG00099.hp2
HG00099.hp2
 intron_variant MODIFIER c.1686+6616_1686+662
others(16): Show 
c.1686+6616_1686+6627dupCACACACACACA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68090242
chrX:68090242 CTG
CTG
 C
C
 10 a0001c0001t0003g0139
a0001c0001t0004g0004
a0001c0001t0004g0005
others(7): Show 
a0001c0001t0003g0139
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0021g0150
 10 HG00735.hp2
HG01081.hp2
HG02055.hp1
others(7): Show 
HG00735.hp2
HG01081.hp2
HG02055.hp1
HG02109.hp1
HG02258.hp1
HG02280.hp2
HG02451.hp2
HG02922.hp2
HG03471.hp1
NA18906.hp1
 intron_variant MODIFIER c.1686+6626_1686+662
others(6): Show 
c.1686+6626_1686+6627delCA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68090242
chrX:68090370 T
T
 G
G
 1 a0001c0001t0020g0099
a0001c0001t0020g0099
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.1686+6500A>C
c.1686+6500A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68090370
chrX:68090615 C
C
 T
T
 3 a0001c0001t0001g0009
a0001c0001t0001g0028
a0001c0001t0011g0061
a0001c0001t0001g0009
a0001c0001t0001g0028
a0001c0001t0011g0061
 3 HG02083.hp1
NA18982.hp1
NA18995.hp1
HG02083.hp1
NA18982.hp1
NA18995.hp1
 intron_variant MODIFIER c.1686+6255G>A
c.1686+6255G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68090615
chrX:68090818 T
T
 C
C
 2 a0001c0001t0002g0124
a0001c0001t0002g0144
a0001c0001t0002g0124
a0001c0001t0002g0144
 2 HG02132.hp1
NA18612.hp1
HG02132.hp1
NA18612.hp1
 intron_variant MODIFIER c.1686+6052A>G
c.1686+6052A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68090818
chrX:68090831 G
G
 A
A
 65 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
others(62): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0133
a0001c0001t0003g0065
a0001c0001t0011g0061
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0003t0010g0085
a0001c0003t0010g0089
a0004c0005t0012g0024
 65 HG00099.hp1
HG00140.hp1
HG00609.hp1
others(62): Show 
HG00099.hp1
HG00140.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01169.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG02015.hp1
HG02056.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02602.hp1
HG02615.hp2
HG02683.hp2
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG03017.hp1
HG03490.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04228.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18966.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.1686+6039C>T
c.1686+6039C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68090831
chrX:68090958 A
A
 G
G
 26 a0001c0001t0001g0064
a0001c0001t0003g0018
a0001c0001t0003g0020
others(23): Show 
a0001c0001t0001g0064
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0151
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0013g0042
a0001c0001t0030g0155
a0002c0002t0001g0002
a0002c0002t0003g0001
 26 HG00099.hp2
HG01099.hp1
HG01106.hp1
others(23): Show 
HG00099.hp2
HG01099.hp1
HG01106.hp1
HG01192.hp1
HG01243.hp1
HG01346.hp2
HG01358.hp1
HG02280.hp1
HG02300.hp1
HG02451.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02976.hp2
HG03130.hp1
HG03492.hp1
HG04199.hp1
NA18522.hp1
NA19030.hp1
NA19043.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1686+5912T>C
c.1686+5912T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68090958
chrX:68091079 A
A
 T
T
 6 a0001c0001t0004g0004
a0001c0001t0004g0026
a0001c0001t0004g0030
others(3): Show 
a0001c0001t0004g0004
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0006g0013
a0001c0001t0021g0150
 6 HG01081.hp2
HG02055.hp1
HG02109.hp1
others(3): Show 
HG01081.hp2
HG02055.hp1
HG02109.hp1
HG02630.hp1
HG03471.hp1
NA18906.hp1
 intron_variant MODIFIER c.1686+5791T>A
c.1686+5791T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68091079
chrX:68091240 C
C
 T
T
 65 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
others(62): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0133
a0001c0001t0003g0065
a0001c0001t0011g0061
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0003t0010g0085
a0001c0003t0010g0089
a0004c0005t0012g0024
 65 HG00099.hp1
HG00140.hp1
HG00609.hp1
others(62): Show 
HG00099.hp1
HG00140.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01169.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG02015.hp1
HG02056.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02602.hp1
HG02615.hp2
HG02683.hp2
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG03017.hp1
HG03490.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04228.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18966.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.1686+5630G>A
c.1686+5630G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68091240
chrX:68092004 T
T
 A
A
 2 a0001c0001t0001g0045
a0001c0001t0001g0078
a0001c0001t0001g0045
a0001c0001t0001g0078
 2 NA19085.hp1
NA19088.hp1
NA19085.hp1
NA19088.hp1
 intron_variant MODIFIER c.1686+4866A>T
c.1686+4866A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68092004
chrX:68092121 GA
GA
 G
G
 98 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
others(95): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0133
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0006g0013
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0019g0003
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 98 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(95): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01074.hp1
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG02015.hp1
HG02056.hp1
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02135.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02922.hp2
HG02976.hp2
HG03017.hp1
HG03130.hp1
HG03490.hp1
HG03492.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18966.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19030.hp1
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1686+4748delT
c.1686+4748delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68092121
chrX:68092177 GA
GA
 G
G
 1 a0001c0001t0008g0112
a0001c0001t0008g0112
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.1686+4692delT
c.1686+4692delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68092177
chrX:68092347 T
T
 A
A
 4 a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
others(1): Show 
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
a0001c0001t0027g0072
 4 HG00099.hp1
HG01258.hp1
HG01261.hp1
others(1): Show 
HG00099.hp1
HG01258.hp1
HG01261.hp1
HG04228.hp1
 intron_variant MODIFIER c.1686+4523A>T
c.1686+4523A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68092347
chrX:68092382 T
T
 C
C
 2 a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0128
a0001c0001t0009g0129
 2 HG01243.hp1
HG02451.hp1
HG01243.hp1
HG02451.hp1
 intron_variant MODIFIER c.1686+4488A>G
c.1686+4488A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68092382
chrX:68092595 A
A
 G
G
 1 a0001c0001t0001g0046
a0001c0001t0001g0046
 1 HG01928.hp1
HG01928.hp1
 intron_variant MODIFIER c.1686+4275T>C
c.1686+4275T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68092595
chrX:68092852 T
T
 G
G
 1 a0001c0001t0006g0013
a0001c0001t0006g0013
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.1686+4018A>C
c.1686+4018A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68092852
chrX:68092862 T
T
 C
C
 2 a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0128
a0001c0001t0009g0129
 2 HG01243.hp1
HG02451.hp1
HG01243.hp1
HG02451.hp1
 intron_variant MODIFIER c.1686+4008A>G
c.1686+4008A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68092862
chrX:68092868 T
T
 A
A
 9 a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
others(6): Show 
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0008g0096
 9 HG01891.hp2
HG02257.hp1
HG02630.hp2
others(6): Show 
HG01891.hp2
HG02257.hp1
HG02630.hp2
HG02717.hp1
HG02818.hp1
HG02976.hp1
HG03209.hp1
HG03516.hp1
HG03540.hp2
 intron_variant MODIFIER c.1686+4002A>T
c.1686+4002A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68092868
chrX:68093427 G
G
 A
A
 8 a0001c0001t0001g0064
a0001c0001t0003g0035
a0001c0001t0003g0063
others(5): Show 
a0001c0001t0001g0064
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0100
a0001c0001t0013g0042
a0002c0002t0001g0002
a0002c0002t0003g0001
 8 HG01099.hp1
HG01106.hp1
HG01192.hp1
others(5): Show 
HG01099.hp1
HG01106.hp1
HG01192.hp1
HG01346.hp2
HG01358.hp1
HG02300.hp1
HG04199.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1686+3443C>T
c.1686+3443C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68093427
chrX:68093610 C
C
 T
T
 1 a0001c0001t0023g0037
a0001c0001t0023g0037
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.1686+3260G>A
c.1686+3260G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68093610
chrX:68093743 C
C
 T
T
 1 a0001c0001t0003g0139
a0001c0001t0003g0139
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.1686+3127G>A
c.1686+3127G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68093743
chrX:68094007 A
A
 G
G
 2 a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0128
a0001c0001t0009g0129
 2 HG01243.hp1
HG02451.hp1
HG01243.hp1
HG02451.hp1
 intron_variant MODIFIER c.1686+2863T>C
c.1686+2863T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68094007
chrX:68094466 G
G
 T
T
 4 a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
others(1): Show 
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
 4 HG00735.hp2
HG02280.hp2
HG02451.hp2
others(1): Show 
HG00735.hp2
HG02280.hp2
HG02451.hp2
HG02922.hp2
 intron_variant MODIFIER c.1686+2404C>A
c.1686+2404C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68094466
chrX:68095091 A
A
 C
C
 1 a0001c0001t0002g0123
a0001c0001t0002g0123
 1 HG02027.hp1
HG02027.hp1
 intron_variant MODIFIER c.1686+1779T>G
c.1686+1779T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68095091
chrX:68095197 G
G
 C
C
 1 a0001c0001t0001g0149
a0001c0001t0001g0149
 1 NA20805.hp1
NA20805.hp1
 intron_variant MODIFIER c.1686+1673C>G
c.1686+1673C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68095197
chrX:68095704 C
C
 G
G
 1 a0001c0001t0020g0099
a0001c0001t0020g0099
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.1686+1166G>C
c.1686+1166G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68095704
chrX:68095800 AG
AG
 A
A
 2 a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0028g0084
a0001c0001t0029g0031
 2 NA18962.hp1
NA19070.hp1
NA18962.hp1
NA19070.hp1
 intron_variant MODIFIER c.1686+1069delC
c.1686+1069delC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68095800
chrX:68095893 C
C
 A
A
 1 a0001c0001t0003g0109
a0001c0001t0003g0109
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.1686+977G>T
c.1686+977G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68095893
chrX:68095927 C
C
 T
T
 1 a0003c0004t0014g0102
a0003c0004t0014g0102
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.1686+943G>A
c.1686+943G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68095927
chrX:68096068 G
G
 A
A
 1 a0001c0001t0004g0004
a0001c0001t0004g0004
 1 HG02109.hp1
HG02109.hp1
 intron_variant MODIFIER c.1686+802C>T
c.1686+802C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68096068
chrX:68096181 A
A
 G
G
 1 a0001c0001t0003g0035
a0001c0001t0003g0035
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.1686+689T>C
c.1686+689T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68096181
chrX:68096244 A
A
 T
T
 3 a0001c0001t0001g0041
a0001c0001t0001g0092
a0001c0001t0024g0007
a0001c0001t0001g0041
a0001c0001t0001g0092
a0001c0001t0024g0007
 3 NA18960.hp1
NA19000.hp1
NA19007.hp1
NA18960.hp1
NA19000.hp1
NA19007.hp1
 intron_variant MODIFIER c.1686+626T>A
c.1686+626T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68096244
chrX:68096325 G
G
 A
A
 2 a0001c0001t0003g0035
a0001c0001t0004g0004
a0001c0001t0003g0035
a0001c0001t0004g0004
 2 HG01099.hp1
HG02109.hp1
HG01099.hp1
HG02109.hp1
 intron_variant MODIFIER c.1686+545C>T
c.1686+545C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68096325
chrX:68096540 A
A
 G
G
 1 a0001c0001t0001g0082
a0001c0001t0001g0082
 1 HG03710.hp1
HG03710.hp1
 intron_variant MODIFIER c.1686+330T>C
c.1686+330T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 19/24 chrX 68096540
chrX:68097190 G
G
 C
C
 3 a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0030g0155
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0030g0155
 3 HG02280.hp1
HG02809.hp1
HG02895.hp1
HG02280.hp1
HG02809.hp1
HG02895.hp1
 intron_variant MODIFIER c.1527-161C>G
c.1527-161C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68097190
chrX:68097230 G
G
 C
C
 1 a0001c0001t0001g0027
a0001c0001t0001g0027
 1 NA18994.hp1
NA18994.hp1
 intron_variant MODIFIER c.1527-201C>G
c.1527-201C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68097230
chrX:68097331 G
G
 A
A
 2 a0001c0001t0002g0021
a0001c0001t0006g0013
a0001c0001t0002g0021
a0001c0001t0006g0013
 2 HG02257.hp2
HG02630.hp1
HG02257.hp2
HG02630.hp1
 intron_variant MODIFIER c.1527-302C>T
c.1527-302C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68097331
chrX:68097366 A
A
 T
T
 1 a0001c0001t0019g0003
a0001c0001t0019g0003
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.1527-337T>A
c.1527-337T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68097366
chrX:68097728 G
G
 C
C
 1 a0001c0003t0010g0085
a0001c0003t0010g0085
 1 HG02735.hp1
HG02735.hp1
 intron_variant MODIFIER c.1527-699C>G
c.1527-699C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68097728
chrX:68097813 C
C
 T
T
 1 a0001c0001t0005g0110
a0001c0001t0005g0110
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.1527-784G>A
c.1527-784G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68097813
chrX:68097896 TG
TG
 T
T
 1 a0001c0001t0002g0021
a0001c0001t0002g0021
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.1527-868delC
c.1527-868delC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68097896
chrX:68099021 T
T
 C
C
 4 a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
others(1): Show 
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
 4 HG00735.hp2
HG02280.hp2
HG02451.hp2
others(1): Show 
HG00735.hp2
HG02280.hp2
HG02451.hp2
HG02922.hp2
 intron_variant MODIFIER c.1527-1992A>G
c.1527-1992A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68099021
chrX:68099112 T
T
 A
A
 62 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
others(59): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0154
a0001c0001t0002g0133
a0001c0001t0003g0065
a0001c0001t0011g0061
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0003t0010g0085
a0001c0003t0010g0089
a0004c0005t0012g0024
 62 HG00140.hp1
HG00609.hp1
HG00621.hp1
others(59): Show 
HG00140.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01169.hp2
HG01256.hp1
HG01346.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG02015.hp1
HG02056.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02300.hp1
HG02602.hp1
HG02615.hp2
HG02683.hp2
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG03017.hp1
HG03490.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18966.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.1527-2083A>T
c.1527-2083A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68099112
chrX:68099252 C
C
 T
T
 62 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
others(59): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0154
a0001c0001t0002g0133
a0001c0001t0003g0065
a0001c0001t0011g0061
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0003t0010g0085
a0001c0003t0010g0089
a0004c0005t0012g0024
 62 HG00140.hp1
HG00609.hp1
HG00621.hp1
others(59): Show 
HG00140.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01169.hp2
HG01256.hp1
HG01346.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG02015.hp1
HG02056.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02300.hp1
HG02602.hp1
HG02615.hp2
HG02683.hp2
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG03017.hp1
HG03490.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18966.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.1527-2223G>A
c.1527-2223G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68099252
chrX:68099348 T
T
 A
A
 2 a0001c0001t0001g0039
a0001c0001t0001g0093
a0001c0001t0001g0039
a0001c0001t0001g0093
 2 HG00735.hp1
HG02698.hp1
HG00735.hp1
HG02698.hp1
 intron_variant MODIFIER c.1527-2319A>T
c.1527-2319A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68099348
chrX:68099452 C
C
 G
G
 79 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
others(76): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0154
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0003g0065
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0011g0061
a0001c0001t0019g0003
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0003t0010g0085
a0001c0003t0010g0089
a0004c0005t0012g0024
 79 HG00140.hp1
HG00609.hp1
HG00621.hp1
others(76): Show 
HG00140.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01169.hp2
HG01255.hp1
HG01256.hp1
HG01346.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG02015.hp1
HG02056.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02300.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02922.hp1
HG02965.hp1
HG03017.hp1
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03490.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
NA18747.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18966.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.1527-2423G>C
c.1527-2423G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68099452
chrX:68099468 G
G
 A
A
 1 a0001c0001t0001g0062
a0001c0001t0001g0062
 1 NA19009.hp1
NA19009.hp1
 intron_variant MODIFIER c.1527-2439C>T
c.1527-2439C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68099468
chrX:68099547 C
C
 G
G
 14 a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
others(11): Show 
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0005g0152
 14 HG01255.hp1
HG02109.hp2
HG02145.hp1
others(11): Show 
HG01255.hp1
HG02109.hp2
HG02145.hp1
HG02559.hp2
HG02630.hp2
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.1527-2518G>C
c.1527-2518G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68099547
chrX:68099823 C
C
 G
G
 1 a0001c0001t0001g0132
a0001c0001t0001g0132
 1 HG01069.hp1
HG01069.hp1
 intron_variant MODIFIER c.1527-2794G>C
c.1527-2794G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68099823
chrX:68099963 G
G
 A
A
 134 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(131): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0065
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0008g0096
a0001c0001t0011g0061
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0003c0004t0014g0102
a0004c0005t0012g0024
 134 HG00099.hp1
HG00140.hp1
HG00280.hp1
others(131): Show 
HG00099.hp1
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03017.hp1
HG03098.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp2
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.1527-2934C>T
c.1527-2934C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68099963
chrX:68100163 T
T
 C
C
 3 a0001c0001t0001g0025
a0001c0001t0001g0064
a0001c0001t0001g0069
a0001c0001t0001g0025
a0001c0001t0001g0064
a0001c0001t0001g0069
 3 HG00140.hp1
HG01515.hp1
HG02300.hp1
HG00140.hp1
HG01515.hp1
HG02300.hp1
 intron_variant MODIFIER c.1527-3134A>G
c.1527-3134A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68100163
chrX:68100288 TAC
TAC
 T
T
 3 a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
 3 HG02280.hp2
HG02451.hp2
HG02922.hp2
HG02280.hp2
HG02451.hp2
HG02922.hp2
 intron_variant MODIFIER c.1527-3261_1527-326
others(6): Show 
c.1527-3261_1527-3260delGT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68100288
chrX:68100331 A
A
 G
G
 2 a0001c0001t0002g0021
a0001c0001t0006g0013
a0001c0001t0002g0021
a0001c0001t0006g0013
 2 HG02257.hp2
HG02630.hp1
HG02257.hp2
HG02630.hp1
 intron_variant MODIFIER c.1527-3302T>C
c.1527-3302T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68100331
chrX:68100408 A
A
 G
G
 1 a0001c0001t0003g0118
a0001c0001t0003g0118
 1 HG02572.hp1
HG02572.hp1
 intron_variant MODIFIER c.1527-3379T>C
c.1527-3379T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68100408
chrX:68100431 CA
CA
 C
C
 1 a0001c0001t0002g0021
a0001c0001t0002g0021
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.1527-3403delT
c.1527-3403delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68100431
chrX:68100721 C
C
 CT
CT
 10 a0001c0001t0001g0027
a0001c0001t0001g0041
a0001c0001t0001g0043
others(7): Show 
a0001c0001t0001g0027
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0077
a0001c0001t0001g0092
a0001c0001t0024g0007
a0001c0001t0028g0084
a0001c0001t0029g0031
 10 HG00621.hp1
HG02071.hp1
NA18747.hp1
others(7): Show 
HG00621.hp1
HG02071.hp1
NA18747.hp1
NA18960.hp1
NA18962.hp1
NA18974.hp1
NA18994.hp1
NA19000.hp1
NA19007.hp1
NA19070.hp1
 intron_variant MODIFIER c.1527-3693dupA
c.1527-3693dupA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68100721
chrX:68100739 TTTTA
TTTTA
 T
T
 1 a0001c0001t0001g0098
a0001c0001t0001g0098
 1 NA18955.hp1
NA18955.hp1
 intron_variant MODIFIER c.1527-3714_1527-371
others(8): Show 
c.1527-3714_1527-3711delTAAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68100739
chrX:68100739 TTTTATTT
others(1): Show 
TTTTATTTA
 T
T
 3 a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0030g0155
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0030g0155
 3 HG02280.hp1
HG02809.hp1
HG02895.hp1
HG02280.hp1
HG02809.hp1
HG02895.hp1
 intron_variant MODIFIER c.1527-3718_1527-371
others(12): Show 
c.1527-3718_1527-3711delTAAATAAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68100739
chrX:68100807 C
C
 T
T
 1 a0001c0001t0004g0004
a0001c0001t0004g0004
 1 HG02109.hp1
HG02109.hp1
 intron_variant MODIFIER c.1527-3778G>A
c.1527-3778G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68100807
chrX:68100808 G
G
 A
A
 1 a0001c0001t0001g0051
a0001c0001t0001g0051
 1 HG00621.hp1
HG00621.hp1
 intron_variant MODIFIER c.1527-3779C>T
c.1527-3779C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68100808
chrX:68100836 T
T
 G
G
 83 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
others(80): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0154
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0003g0065
a0001c0001t0004g0005
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0011g0061
a0001c0001t0019g0003
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0004c0005t0012g0024
 83 HG00140.hp1
HG00609.hp1
HG00621.hp1
others(80): Show 
HG00140.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01074.hp1
HG01169.hp2
HG01255.hp1
HG01256.hp1
HG01346.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG02015.hp1
HG02056.hp1
HG02071.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02300.hp1
HG02602.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02922.hp1
HG02965.hp1
HG03017.hp1
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03490.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
NA18747.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.1527-3807A>C
c.1527-3807A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68100836
chrX:68100872 G
G
 A
A
 15 a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
others(12): Show 
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0005g0152
a0001c0001t0006g0013
 15 HG01255.hp1
HG02109.hp2
HG02145.hp1
others(12): Show 
HG01255.hp1
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02630.hp1
HG02630.hp2
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.1527-3843C>T
c.1527-3843C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68100872
chrX:68101082 C
C
 T
T
 1 a0001c0001t0001g0028
a0001c0001t0001g0028
 1 HG02083.hp1
HG02083.hp1
 intron_variant MODIFIER c.1527-4053G>A
c.1527-4053G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68101082
chrX:68101109 T
T
 C
C
 1 a0001c0001t0019g0003
a0001c0001t0019g0003
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.1527-4080A>G
c.1527-4080A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68101109
chrX:68101323 G
G
 A
A
 2 a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0059
a0001c0001t0001g0074
 2 HG01258.hp1
HG01261.hp1
HG01258.hp1
HG01261.hp1
 intron_variant MODIFIER c.1527-4294C>T
c.1527-4294C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68101323
chrX:68101405 T
T
 A
A
 4 a0001c0001t0002g0108
a0001c0001t0002g0126
a0001c0001t0002g0130
others(1): Show 
a0001c0001t0002g0108
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
 4 HG02965.hp1
HG03139.hp1
HG03225.hp1
others(1): Show 
HG02965.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
 intron_variant MODIFIER c.1527-4376A>T
c.1527-4376A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68101405
chrX:68101474 T
T
 C
C
 2 a0001c0001t0002g0021
a0001c0001t0006g0013
a0001c0001t0002g0021
a0001c0001t0006g0013
 2 HG02257.hp2
HG02630.hp1
HG02257.hp2
HG02630.hp1
 intron_variant MODIFIER c.1527-4445A>G
c.1527-4445A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68101474
chrX:68101548 G
G
 A
A
 8 a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
others(5): Show 
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
 8 HG02109.hp2
HG02145.hp1
HG02922.hp1
others(5): Show 
HG02109.hp2
HG02145.hp1
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
 intron_variant MODIFIER c.1527-4519C>T
c.1527-4519C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68101548
chrX:68101580 A
A
 C
C
 1 a0001c0001t0017g0036
a0001c0001t0017g0036
 1 HG01952.hp1
HG01952.hp1
 intron_variant MODIFIER c.1527-4551T>G
c.1527-4551T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68101580
chrX:68101860 C
C
 T
T
 1 a0001c0001t0020g0099
a0001c0001t0020g0099
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.1527-4831G>A
c.1527-4831G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68101860
chrX:68101899 G
G
 T
T
 133 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(130): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0065
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0008g0096
a0001c0001t0011g0061
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0003c0004t0014g0102
a0004c0005t0012g0024
 133 HG00099.hp1
HG00140.hp1
HG00280.hp1
others(130): Show 
HG00099.hp1
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03017.hp1
HG03098.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp2
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.1527-4870C>A
c.1527-4870C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68101899
chrX:68101907 T
T
 C
C
 1 a0001c0001t0020g0099
a0001c0001t0020g0099
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.1527-4878A>G
c.1527-4878A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68101907
chrX:68102078 C
C
 T
T
 65 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
others(62): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0154
a0001c0001t0002g0133
a0001c0001t0003g0065
a0001c0001t0011g0061
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0004c0005t0012g0024
 65 HG00140.hp1
HG00609.hp1
HG00621.hp1
others(62): Show 
HG00140.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01169.hp2
HG01256.hp1
HG01346.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG02015.hp1
HG02056.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02300.hp1
HG02602.hp1
HG02615.hp2
HG02683.hp2
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG03017.hp1
HG03490.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.1527-5049G>A
c.1527-5049G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68102078
chrX:68102271 A
A
 C
C
 15 a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
others(12): Show 
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0004g0005
a0001c0001t0005g0152
a0001c0001t0019g0003
 15 HG00735.hp2
HG01255.hp1
HG02109.hp2
others(12): Show 
HG00735.hp2
HG01255.hp1
HG02109.hp2
HG02145.hp1
HG02630.hp2
HG02809.hp2
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.1527-5242T>G
c.1527-5242T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68102271
chrX:68102272 C
C
 A
A
 3 a0001c0001t0001g0017
a0001c0001t0001g0070
a0001c0001t0001g0086
a0001c0001t0001g0017
a0001c0001t0001g0070
a0001c0001t0001g0086
 3 NA18971.hp1
NA19056.hp1
NA19060.hp1
NA18971.hp1
NA19056.hp1
NA19060.hp1
 intron_variant MODIFIER c.1527-5243G>T
c.1527-5243G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68102272
chrX:68102408 C
C
 T
T
 29 a0001c0001t0001g0015
a0001c0001t0001g0040
a0001c0001t0001g0059
others(26): Show 
a0001c0001t0001g0015
a0001c0001t0001g0040
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0144
a0001c0001t0003g0113
a0001c0001t0003g0151
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0022g0103
a0001c0001t0027g0072
a0003c0004t0014g0102
 29 HG00099.hp1
HG00280.hp1
HG00673.hp1
others(26): Show 
HG00099.hp1
HG00280.hp1
HG00673.hp1
HG01081.hp1
HG01167.hp1
HG01169.hp1
HG01258.hp1
HG01261.hp1
HG01891.hp2
HG01943.hp1
HG01952.hp1
HG02027.hp1
HG02074.hp1
HG02132.hp1
HG02683.hp1
HG02723.hp2
HG02886.hp1
HG03209.hp1
HG03516.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18948.hp1
NA18965.hp1
NA18983.hp1
NA18986.hp1
NA19004.hp1
NA19012.hp1
NA19030.hp2
 intron_variant MODIFIER c.1527-5379G>A
c.1527-5379G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68102408
chrX:68102437 C
C
 T
T
 1 a0001c0001t0028g0084
a0001c0001t0028g0084
 1 NA19070.hp1
NA19070.hp1
 intron_variant MODIFIER c.1527-5408G>A
c.1527-5408G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68102437
chrX:68102737 A
A
 G
G
 1 a0001c0001t0002g0125
a0001c0001t0002g0125
 1 HG01255.hp1
HG01255.hp1
 intron_variant MODIFIER c.1527-5708T>C
c.1527-5708T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68102737
chrX:68103154 C
C
 T
T
 77 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
others(74): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0154
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0003g0065
a0001c0001t0005g0152
a0001c0001t0011g0061
a0001c0001t0019g0003
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0003t0010g0085
a0001c0003t0010g0089
a0004c0005t0012g0024
 77 HG00140.hp1
HG00609.hp1
HG00621.hp1
others(74): Show 
HG00140.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01169.hp2
HG01255.hp1
HG01256.hp1
HG01346.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG02015.hp1
HG02056.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02300.hp1
HG02602.hp1
HG02615.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02922.hp1
HG02965.hp1
HG03017.hp1
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03490.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
NA18747.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18966.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.1527-6125G>A
c.1527-6125G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68103154
chrX:68103362 T
T
 C
C
 16 a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
others(13): Show 
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0004g0005
a0001c0001t0005g0152
a0001c0001t0019g0003
 16 HG00735.hp2
HG01255.hp1
HG02109.hp2
others(13): Show 
HG00735.hp2
HG01255.hp1
HG02109.hp2
HG02145.hp1
HG02559.hp2
HG02630.hp2
HG02809.hp2
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.1527-6333A>G
c.1527-6333A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68103362
chrX:68103462 C
C
 T
T
 1 a0001c0001t0006g0013
a0001c0001t0006g0013
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.1527-6433G>A
c.1527-6433G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68103462
chrX:68103487 T
T
 TCAC
TCAC
 1 a0002c0002t0003g0001
a0002c0002t0003g0001
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1527-6461_1527-645
others(7): Show 
c.1527-6461_1527-6459dupGTG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68103487
chrX:68103497 T
T
 G
G
 2 a0001c0001t0004g0005
a0001c0001t0019g0003
a0001c0001t0004g0005
a0001c0001t0019g0003
 2 HG00735.hp2
HG02809.hp2
HG00735.hp2
HG02809.hp2
 intron_variant MODIFIER c.1527-6468A>C
c.1527-6468A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68103497
chrX:68103621 A
A
 AC
AC
 134 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(131): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0065
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0008g0096
a0001c0001t0011g0061
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0003c0004t0014g0102
a0004c0005t0012g0024
 134 HG00099.hp1
HG00140.hp1
HG00280.hp1
others(131): Show 
HG00099.hp1
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03017.hp1
HG03098.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp2
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.1527-6593dupG
c.1527-6593dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68103621
chrX:68103714 T
T
 C
C
 1 a0001c0001t0020g0099
a0001c0001t0020g0099
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.1527-6685A>G
c.1527-6685A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68103714
chrX:68104391 A
A
 G
G
 1 a0001c0001t0001g0145
a0001c0001t0001g0145
 1 NA18944.hp1
NA18944.hp1
 intron_variant MODIFIER c.1527-7362T>C
c.1527-7362T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68104391
chrX:68104513 C
C
 T
T
 1 a0001c0001t0020g0099
a0001c0001t0020g0099
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.1526+7341G>A
c.1526+7341G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68104513
chrX:68104723 G
G
 A
A
 1 a0001c0001t0007g0022
a0001c0001t0007g0022
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.1526+7131C>T
c.1526+7131C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68104723
chrX:68104892 A
A
 T
T
 1 a0001c0001t0001g0146
a0001c0001t0001g0146
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.1526+6962T>A
c.1526+6962T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68104892
chrX:68104960 G
G
 GA
GA
 1 a0001c0001t0024g0007
a0001c0001t0024g0007
 1 NA19000.hp1
NA19000.hp1
 intron_variant MODIFIER c.1526+6893dupT
c.1526+6893dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68104960
chrX:68105011 C
C
 T
T
 33 a0001c0001t0001g0015
a0001c0001t0001g0040
a0001c0001t0001g0059
others(30): Show 
a0001c0001t0001g0015
a0001c0001t0001g0040
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0097
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0144
a0001c0001t0003g0113
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0027g0072
a0003c0004t0014g0102
 33 HG00099.hp1
HG00280.hp1
HG00673.hp1
others(30): Show 
HG00099.hp1
HG00280.hp1
HG00673.hp1
HG00738.hp1
HG01081.hp1
HG01167.hp1
HG01169.hp1
HG01258.hp1
HG01261.hp1
HG01891.hp2
HG01943.hp1
HG01952.hp1
HG02027.hp1
HG02071.hp1
HG02074.hp1
HG02109.hp1
HG02132.hp1
HG02683.hp1
HG02723.hp2
HG02886.hp1
HG03209.hp1
HG03516.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18948.hp1
NA18965.hp1
NA18970.hp1
NA18983.hp1
NA18986.hp1
NA19004.hp1
NA19012.hp1
NA19030.hp2
 intron_variant MODIFIER c.1526+6843G>A
c.1526+6843G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68105011
chrX:68105118 C
C
 T
T
 79 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
others(76): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0154
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0003g0065
a0001c0001t0005g0152
a0001c0001t0011g0061
a0001c0001t0019g0003
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0004c0005t0012g0024
 79 HG00140.hp1
HG00609.hp1
HG00621.hp1
others(76): Show 
HG00140.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01169.hp2
HG01255.hp1
HG01256.hp1
HG01346.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG02015.hp1
HG02056.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02300.hp1
HG02602.hp1
HG02615.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02922.hp1
HG02965.hp1
HG03017.hp1
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03490.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
NA18747.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18966.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.1526+6736G>A
c.1526+6736G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68105118
chrX:68105479 A
A
 G
G
 1 a0001c0001t0002g0021
a0001c0001t0002g0021
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.1526+6375T>C
c.1526+6375T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68105479
chrX:68105556 A
A
 C
C
 1 a0001c0001t0001g0044
a0001c0001t0001g0044
 1 HG03942.hp1
HG03942.hp1
 intron_variant MODIFIER c.1526+6298T>G
c.1526+6298T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68105556
chrX:68105908 T
T
 C
C
 1 a0001c0001t0002g0021
a0001c0001t0002g0021
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.1526+5946A>G
c.1526+5946A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68105908
chrX:68106015 T
T
 TA
TA
 3 a0001c0001t0002g0134
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0002g0134
a0001c0001t0006g0105
a0001c0001t0006g0106
 3 HG02559.hp2
HG02647.hp1
HG02886.hp2
HG02559.hp2
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.1526+5838dupT
c.1526+5838dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68106015
chrX:68106104 A
A
 AAG
AAG
 53 a0001c0001t0001g0015
a0001c0001t0001g0040
a0001c0001t0001g0059
others(50): Show 
a0001c0001t0001g0015
a0001c0001t0001g0040
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0097
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0127
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0008g0096
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
 53 HG00099.hp1
HG00280.hp1
HG00673.hp1
others(50): Show 
HG00099.hp1
HG00280.hp1
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01258.hp1
HG01261.hp1
HG01891.hp2
HG01943.hp1
HG01952.hp1
HG02027.hp1
HG02055.hp1
HG02071.hp1
HG02074.hp1
HG02109.hp1
HG02132.hp1
HG02257.hp1
HG02258.hp1
HG02280.hp1
HG02486.hp1
HG02559.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02895.hp1
HG02976.hp1
HG03209.hp1
HG03471.hp1
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18948.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18983.hp1
NA18986.hp1
NA19004.hp1
NA19012.hp1
NA19030.hp2
NA19070.hp1
 intron_variant MODIFIER c.1526+5748_1526+574
others(6): Show 
c.1526+5748_1526+5749dupCT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68106104
chrX:68106104 A
A
 AAGAG
AAGAG
 3 a0001c0003t0010g0085
a0001c0003t0010g0089
a0003c0004t0014g0102
a0001c0003t0010g0085
a0001c0003t0010g0089
a0003c0004t0014g0102
 3 HG02735.hp1
HG02886.hp1
HG03688.hp1
HG02735.hp1
HG02886.hp1
HG03688.hp1
 intron_variant MODIFIER c.1526+5746_1526+574
others(8): Show 
c.1526+5746_1526+5749dupCTCT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68106104
chrX:68106104 AAG
AAG
 A
A
 3 a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
 3 HG02280.hp2
HG02451.hp2
HG02922.hp2
HG02280.hp2
HG02451.hp2
HG02922.hp2
 intron_variant MODIFIER c.1526+5748_1526+574
others(6): Show 
c.1526+5748_1526+5749delCT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68106104
chrX:68106190 C
C
 CT
CT
 13 a0001c0001t0001g0040
a0001c0001t0001g0086
a0001c0001t0001g0088
others(10): Show 
a0001c0001t0001g0040
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0124
a0001c0001t0002g0144
a0001c0001t0006g0013
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0018g0104
 13 HG00280.hp1
HG01243.hp1
HG02056.hp1
others(10): Show 
HG00280.hp1
HG01243.hp1
HG02056.hp1
HG02074.hp1
HG02132.hp1
HG02145.hp1
HG02451.hp1
HG02630.hp1
HG04228.hp1
NA18612.hp1
NA18948.hp1
NA18965.hp1
NA19060.hp1
 intron_variant MODIFIER c.1526+5663dupA
c.1526+5663dupA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68106190
chrX:68106190 CT
CT
 C
C
 6 a0001c0001t0002g0116
a0001c0001t0002g0125
a0001c0001t0002g0127
others(3): Show 
a0001c0001t0002g0116
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0135
a0001c0001t0005g0152
a0001c0001t0007g0032
 6 HG01255.hp1
HG02630.hp2
HG03130.hp1
others(3): Show 
HG01255.hp1
HG02630.hp2
HG03130.hp1
HG03540.hp1
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.1526+5663delA
c.1526+5663delA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68106190
chrX:68106367 T
T
 A
A
 3 a0001c0001t0002g0134
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0002g0134
a0001c0001t0006g0105
a0001c0001t0006g0106
 3 HG02559.hp2
HG02647.hp1
HG02886.hp2
HG02559.hp2
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.1526+5487A>T
c.1526+5487A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68106367
chrX:68106439 T
T
 G
G
 3 a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0030g0155
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0030g0155
 3 HG02280.hp1
HG02809.hp1
HG02895.hp1
HG02280.hp1
HG02809.hp1
HG02895.hp1
 intron_variant MODIFIER c.1526+5415A>C
c.1526+5415A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68106439
chrX:68106516 A
A
 ATTT
ATTT
 1 a0001c0001t0005g0138
a0001c0001t0005g0138
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.1526+5337_1526+533
others(7): Show 
c.1526+5337_1526+5338insAAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68106516
chrX:68106518 A
A
 T
T
 1 a0001c0001t0005g0138
a0001c0001t0005g0138
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.1526+5336T>A
c.1526+5336T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68106518
chrX:68106519 T
T
 C
C
 1 a0001c0001t0005g0138
a0001c0001t0005g0138
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.1526+5335A>G
c.1526+5335A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68106519
chrX:68106649 A
A
 G
G
 1 a0001c0001t0001g0038
a0001c0001t0001g0038
 1 HG02602.hp1
HG02602.hp1
 intron_variant MODIFIER c.1526+5205T>C
c.1526+5205T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68106649
chrX:68107545 C
C
 T
T
 1 a0001c0001t0006g0013
a0001c0001t0006g0013
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.1526+4309G>A
c.1526+4309G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68107545
chrX:68107817 G
G
 T
T
 2 a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0105
a0001c0001t0006g0106
 2 HG02647.hp1
HG02886.hp2
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.1526+4037C>A
c.1526+4037C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68107817
chrX:68108302 C
C
 T
T
 1 a0001c0001t0021g0150
a0001c0001t0021g0150
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.1526+3552G>A
c.1526+3552G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68108302
chrX:68108482 AT
AT
 A
A
 1 a0001c0001t0020g0099
a0001c0001t0020g0099
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.1526+3371delA
c.1526+3371delA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68108482
chrX:68108680 T
T
 A
A
 1 a0001c0001t0002g0083
a0001c0001t0002g0083
 1 NA18948.hp1
NA18948.hp1
 intron_variant MODIFIER c.1526+3174A>T
c.1526+3174A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68108680
chrX:68108943 C
C
 T
T
 1 a0001c0001t0006g0013
a0001c0001t0006g0013
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.1526+2911G>A
c.1526+2911G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68108943
chrX:68109290 GT
GT
 G
G
 1 a0001c0001t0007g0022
a0001c0001t0007g0022
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.1526+2563delA
c.1526+2563delA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68109290
chrX:68109508 A
A
 G
G
 1 a0001c0001t0005g0107
a0001c0001t0005g0107
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.1526+2346T>C
c.1526+2346T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68109508
chrX:68109592 G
G
 GT
GT
 1 a0001c0001t0002g0021
a0001c0001t0002g0021
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.1526+2261dupA
c.1526+2261dupA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68109592
chrX:68109601 A
A
 T
T
 2 a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0081
a0001c0001t0003g0091
 2 HG00099.hp2
HG03492.hp1
HG00099.hp2
HG03492.hp1
 intron_variant MODIFIER c.1526+2253T>A
c.1526+2253T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68109601
chrX:68109901 C
C
 T
T
 150 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(147): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 150 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(147): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03017.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1526+1953G>A
c.1526+1953G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68109901
chrX:68110006 T
T
 TA
TA
 148 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(145): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 148 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(145): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03017.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1526+1847dupT
c.1526+1847dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68110006
chrX:68110043 G
G
 A
A
 1 a0001c0001t0006g0013
a0001c0001t0006g0013
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.1526+1811C>T
c.1526+1811C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68110043
chrX:68110077 T
T
 C
C
 1 a0001c0001t0003g0101
a0001c0001t0003g0101
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.1526+1777A>G
c.1526+1777A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68110077
chrX:68110308 T
T
 A
A
 1 a0001c0001t0001g0066
a0001c0001t0001g0066
 1 NA18990.hp1
NA18990.hp1
 intron_variant MODIFIER c.1526+1546A>T
c.1526+1546A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68110308
chrX:68110474 T
T
 C
C
 1 a0001c0001t0002g0125
a0001c0001t0002g0125
 1 HG01255.hp1
HG01255.hp1
 intron_variant MODIFIER c.1526+1380A>G
c.1526+1380A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68110474
chrX:68110946 C
C
 T
T
 1 a0001c0001t0006g0013
a0001c0001t0006g0013
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.1526+908G>A
c.1526+908G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68110946
chrX:68111157 C
C
 G
G
 1 a0001c0001t0001g0038
a0001c0001t0001g0038
 1 HG02602.hp1
HG02602.hp1
 intron_variant MODIFIER c.1526+697G>C
c.1526+697G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68111157
chrX:68111478 C
C
 G
G
 1 a0001c0001t0002g0123
a0001c0001t0002g0123
 1 HG02027.hp1
HG02027.hp1
 intron_variant MODIFIER c.1526+376G>C
c.1526+376G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68111478
chrX:68111541 G
G
 A
A
 6 a0001c0001t0003g0122
a0001c0001t0007g0023
a0001c0001t0007g0032
others(3): Show 
a0001c0001t0003g0122
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0009g0128
a0001c0001t0009g0129
 6 HG01243.hp1
HG02451.hp1
HG02559.hp1
others(3): Show 
HG01243.hp1
HG02451.hp1
HG02559.hp1
HG03130.hp1
NA19030.hp1
NA19043.hp1
 intron_variant MODIFIER c.1526+313C>T
c.1526+313C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 18/24 chrX 68111541
chrX:68112061 G
G
 GCA
GCA
 8 a0001c0001t0002g0021
a0001c0001t0003g0113
a0001c0001t0004g0005
others(5): Show 
a0001c0001t0002g0021
a0001c0001t0003g0113
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0016g0119
a0001c0001t0022g0103
 8 HG00735.hp2
HG01081.hp1
HG02257.hp2
others(5): Show 
HG00735.hp2
HG01081.hp1
HG02257.hp2
HG02280.hp2
HG02451.hp2
HG02683.hp1
HG02723.hp2
HG02922.hp2
 intron_variant MODIFIER c.1421-104_1421-103d
others(4): Show 
c.1421-104_1421-103dupTG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 17/24 chrX 68112061
chrX:68112061 G
G
 GCACA
GCACA
 30 a0001c0001t0001g0015
a0001c0001t0001g0040
a0001c0001t0001g0043
others(27): Show 
a0001c0001t0001g0015
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0153
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0144
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0005g0107
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0015g0148
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0021g0150
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0003c0004t0014g0102
 30 HG00099.hp1
HG00280.hp1
HG00673.hp1
others(27): Show 
HG00099.hp1
HG00280.hp1
HG00673.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01258.hp1
HG01261.hp1
HG01943.hp1
HG01952.hp1
HG02027.hp1
HG02055.hp1
HG02071.hp1
HG02132.hp1
HG02486.hp1
HG02886.hp1
HG03471.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18948.hp1
NA18962.hp1
NA18965.hp1
NA18983.hp1
NA18986.hp1
NA19004.hp1
NA19012.hp1
NA19030.hp2
NA19070.hp1
 intron_variant MODIFIER c.1421-106_1421-103d
others(6): Show 
c.1421-106_1421-103dupTGTG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 17/24 chrX 68112061
chrX:68112061 G
G
 GCACACA
GCACACA
 7 a0001c0001t0001g0097
a0001c0001t0003g0151
a0001c0001t0004g0004
others(4): Show 
a0001c0001t0001g0097
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0019g0003
 7 HG01891.hp2
HG02109.hp1
HG02809.hp2
others(4): Show 
HG01891.hp2
HG02109.hp1
HG02809.hp2
HG03209.hp1
HG03516.hp1
NA18522.hp1
NA18970.hp1
 intron_variant MODIFIER c.1421-108_1421-103d
others(8): Show 
c.1421-108_1421-103dupTGTGTG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 17/24 chrX 68112061
chrX:68112061 G
G
 GCACACAC
others(1): Show 
GCACACACA
 7 a0001c0001t0002g0134
a0001c0001t0003g0020
a0001c0001t0006g0013
others(4): Show 
a0001c0001t0002g0134
a0001c0001t0003g0020
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0020g0099
a0001c0001t0030g0155
 7 HG00738.hp1
HG02559.hp2
HG02630.hp1
others(4): Show 
HG00738.hp1
HG02559.hp2
HG02630.hp1
HG02647.hp1
HG02809.hp1
HG02886.hp2
HG02895.hp1
 intron_variant MODIFIER c.1421-110_1421-103d
others(10): Show 
c.1421-110_1421-103dupTGTGTGTG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 17/24 chrX 68112061
chrX:68112061 G
G
 GCACACAC
others(3): Show 
GCACACACACA
 1 a0001c0001t0003g0018
a0001c0001t0003g0018
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.1421-112_1421-103d
others(12): Show 
c.1421-112_1421-103dupTGTGTGTGTG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 17/24 chrX 68112061
chrX:68112061 G
G
 GCACACAC
others(5): Show 
GCACACACACACA
 1 a0001c0001t0008g0096
a0001c0001t0008g0096
 1 HG02257.hp1
HG02257.hp1
 intron_variant MODIFIER c.1421-114_1421-103d
others(14): Show 
c.1421-114_1421-103dupTGTGTGTGTGTG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 17/24 chrX 68112061
chrX:68112061 G
G
 GCACACAC
others(7): Show 
GCACACACACACACA
 5 a0001c0001t0003g0139
a0001c0001t0005g0110
a0001c0001t0005g0136
others(2): Show 
a0001c0001t0003g0139
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
 5 HG02258.hp1
HG02717.hp1
HG02818.hp1
others(2): Show 
HG02258.hp1
HG02717.hp1
HG02818.hp1
HG02976.hp1
HG03540.hp2
 intron_variant MODIFIER c.1421-116_1421-103d
others(16): Show 
c.1421-116_1421-103dupTGTGTGTGTGTGTG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 17/24 chrX 68112061
chrX:68112061 GCACA
GCACA
 G
G
 16 a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
others(13): Show 
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0122
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0013g0042
a0002c0002t0001g0002
a0002c0002t0003g0001
 16 HG00099.hp2
HG01099.hp1
HG01106.hp1
others(13): Show 
HG00099.hp2
HG01099.hp1
HG01106.hp1
HG01192.hp1
HG01243.hp1
HG01346.hp2
HG01358.hp1
HG02451.hp1
HG02559.hp1
HG02615.hp1
HG03130.hp1
HG03492.hp1
HG04199.hp1
NA19030.hp1
NA19043.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1421-106_1421-103d
others(6): Show 
c.1421-106_1421-103delTGTG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 17/24 chrX 68112061
chrX:68112086 CACAG
CACAG
 C
C
 2 a0001c0001t0002g0006
a0001c0001t0008g0112
a0001c0001t0002g0006
a0001c0001t0008g0112
 2 HG02074.hp1
HG02818.hp2
HG02074.hp1
HG02818.hp2
 intron_variant MODIFIER c.1421-131_1421-128d
others(6): Show 
c.1421-131_1421-128delCTGT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 17/24 chrX 68112086
chrX:68112088 CAG
CAG
 C
C
 67 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
others(64): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0093
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0154
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0003g0065
a0001c0001t0005g0152
a0001c0001t0011g0061
a0001c0001t0023g0037
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0003t0010g0085
a0001c0003t0010g0089
a0004c0005t0012g0024
 67 HG00140.hp1
HG00609.hp1
HG00621.hp1
others(64): Show 
HG00140.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp1
HG01169.hp2
HG01255.hp1
HG01256.hp1
HG01346.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG02015.hp1
HG02056.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02135.hp1
HG02145.hp1
HG02300.hp1
HG02602.hp1
HG02615.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG02922.hp1
HG02965.hp1
HG03017.hp1
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03490.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03688.hp1
HG03942.hp1
HG04115.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18952.hp1
NA18955.hp1
NA18966.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA19005.hp1
NA19009.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20905.hp1
 intron_variant MODIFIER c.1421-131_1421-130d
others(4): Show 
c.1421-131_1421-130delCT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 17/24 chrX 68112088
chrX:68112088 CAGAG
CAGAG
 C
C
 2 a0001c0001t0001g0027
a0001c0001t0001g0082
a0001c0001t0001g0027
a0001c0001t0001g0082
 2 HG03710.hp1
NA18994.hp1
HG03710.hp1
NA18994.hp1
 intron_variant MODIFIER c.1421-133_1421-130d
others(6): Show 
c.1421-133_1421-130delCTCT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 17/24 chrX 68112088
chrX:68112090 G
G
 C
C
 62 a0001c0001t0001g0015
a0001c0001t0001g0040
a0001c0001t0001g0041
others(59): Show 
a0001c0001t0001g0015
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0092
a0001c0001t0001g0097
a0001c0001t0001g0141
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0008g0096
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0024g0007
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0003c0004t0014g0102
 62 HG00099.hp1
HG00280.hp1
HG00673.hp1
others(59): Show 
HG00099.hp1
HG00280.hp1
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01258.hp1
HG01261.hp1
HG01891.hp2
HG01943.hp1
HG01952.hp1
HG02027.hp1
HG02055.hp1
HG02071.hp1
HG02109.hp1
HG02132.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp2
HG02976.hp1
HG03209.hp1
HG03471.hp1
HG03516.hp1
HG03540.hp2
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18948.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18983.hp1
NA18986.hp1
NA19000.hp1
NA19004.hp1
NA19007.hp1
NA19012.hp1
NA19070.hp1
NA20805.hp1
 intron_variant MODIFIER c.1421-131C>G
c.1421-131C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 17/24 chrX 68112090
chrX:68112092 G
G
 C
C
 77 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
others(74): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0154
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0065
a0001c0001t0005g0152
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0011g0061
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0004c0005t0012g0024
 77 HG00140.hp1
HG00609.hp1
HG00621.hp1
others(74): Show 
HG00140.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01255.hp1
HG01256.hp1
HG01346.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG02015.hp1
HG02056.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02135.hp1
HG02145.hp1
HG02280.hp1
HG02300.hp1
HG02602.hp1
HG02615.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG03017.hp1
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03490.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03688.hp1
HG03942.hp1
HG04115.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18966.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA19000.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.1421-133C>G
c.1421-133C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 17/24 chrX 68112092
chrX:68112841 G
G
 A
A
 1 a0001c0001t0026g0056
a0001c0001t0026g0056
 1 NA20905.hp1
NA20905.hp1
 intron_variant MODIFIER c.1420+340C>T
c.1420+340C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 17/24 chrX 68112841
chrX:68113400 G
G
 A
A
 8 a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
others(5): Show 
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
 8 HG02109.hp2
HG02145.hp1
HG02922.hp1
others(5): Show 
HG02109.hp2
HG02145.hp1
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
 intron_variant MODIFIER c.1362-161C>T
c.1362-161C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 16/24 chrX 68113400
chrX:68113572 C
C
 T
T
 17 a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
others(14): Show 
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0122
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0013g0042
a0002c0002t0001g0002
a0002c0002t0003g0001
 17 HG00099.hp2
HG01099.hp1
HG01106.hp1
others(14): Show 
HG00099.hp2
HG01099.hp1
HG01106.hp1
HG01192.hp1
HG01243.hp1
HG01346.hp2
HG01358.hp1
HG02451.hp1
HG02559.hp1
HG02615.hp1
HG02818.hp2
HG03130.hp1
HG03492.hp1
HG04199.hp1
NA19030.hp1
NA19043.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1362-333G>A
c.1362-333G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 16/24 chrX 68113572
chrX:68113814 C
C
 T
T
 151 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(148): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 151 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(148): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03017.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1362-575G>A
c.1362-575G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 16/24 chrX 68113814
chrX:68113819 T
T
 TG
TG
 1 a0001c0001t0001g0075
a0001c0001t0001g0075
 1 NA18977.hp1
NA18977.hp1
 intron_variant MODIFIER c.1362-581dupC
c.1362-581dupC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 16/24 chrX 68113819
chrX:68113975 A
A
 G
G
 35 a0001c0001t0001g0015
a0001c0001t0001g0040
a0001c0001t0001g0059
others(32): Show 
a0001c0001t0001g0015
a0001c0001t0001g0040
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0144
a0001c0001t0003g0113
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0027g0072
a0003c0004t0014g0102
 35 HG00099.hp1
HG00280.hp1
HG00673.hp1
others(32): Show 
HG00099.hp1
HG00280.hp1
HG00673.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01258.hp1
HG01261.hp1
HG01891.hp2
HG01943.hp1
HG01952.hp1
HG02027.hp1
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02132.hp1
HG02486.hp1
HG02683.hp1
HG02723.hp2
HG02886.hp1
HG03209.hp1
HG03471.hp1
HG03516.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18948.hp1
NA18965.hp1
NA18983.hp1
NA18986.hp1
NA19004.hp1
NA19012.hp1
NA19030.hp2
 intron_variant MODIFIER c.1362-736T>C
c.1362-736T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 16/24 chrX 68113975
chrX:68113980 AAG
AAG
 A
A
 13 a0001c0001t0002g0021
a0001c0001t0002g0134
a0001c0001t0003g0018
others(10): Show 
a0001c0001t0002g0021
a0001c0001t0002g0134
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0139
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0008g0096
a0001c0001t0030g0155
 13 HG02257.hp1
HG02257.hp2
HG02258.hp1
others(10): Show 
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02559.hp2
HG02647.hp1
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02895.hp1
HG02976.hp1
HG03540.hp2
 intron_variant MODIFIER c.1362-743_1362-742d
others(4): Show 
c.1362-743_1362-742delCT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 16/24 chrX 68113980
chrX:68113982 G
G
 A
A
 64 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
others(61): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0154
a0001c0001t0002g0133
a0001c0001t0003g0065
a0001c0001t0011g0061
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0004c0005t0012g0024
 64 HG00140.hp1
HG00609.hp1
HG00621.hp1
others(61): Show 
HG00140.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01169.hp2
HG01256.hp1
HG01346.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG02015.hp1
HG02056.hp1
HG02071.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02300.hp1
HG02602.hp1
HG02615.hp2
HG02683.hp2
HG02735.hp1
HG02738.hp1
HG03017.hp1
HG03490.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18982.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.1362-743C>T
c.1362-743C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 16/24 chrX 68113982
chrX:68113982 GA
GA
 G
G
 73 a0001c0001t0001g0015
a0001c0001t0001g0039
a0001c0001t0001g0040
others(70): Show 
a0001c0001t0001g0015
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0122
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0152
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0027g0072
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
 73 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(70): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01891.hp2
HG01943.hp1
HG01952.hp1
HG02027.hp1
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02615.hp1
HG02630.hp2
HG02683.hp1
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18948.hp1
NA18965.hp1
NA18977.hp1
NA18983.hp1
NA18986.hp1
NA19004.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1362-744delT
c.1362-744delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 16/24 chrX 68113982
chrX:68113983 A
A
 G
G
 77 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
others(74): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0154
a0001c0001t0002g0021
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0065
a0001c0001t0003g0139
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0008g0096
a0001c0001t0011g0061
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0004c0005t0012g0024
 77 HG00140.hp1
HG00609.hp1
HG00621.hp1
others(74): Show 
HG00140.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01169.hp2
HG01256.hp1
HG01346.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG02015.hp1
HG02056.hp1
HG02071.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02300.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp2
HG02717.hp1
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02895.hp1
HG02976.hp1
HG03017.hp1
HG03490.hp1
HG03540.hp2
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18982.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.1362-744T>C
c.1362-744T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 16/24 chrX 68113983
chrX:68114085 T
T
 C
C
 1 a0001c0001t0001g0043
a0001c0001t0001g0043
 1 NA18747.hp1
NA18747.hp1
 intron_variant MODIFIER c.1362-846A>G
c.1362-846A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 16/24 chrX 68114085
chrX:68114293 C
C
 T
T
 1 a0001c0001t0004g0026
a0001c0001t0004g0026
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.1362-1054G>A
c.1362-1054G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 16/24 chrX 68114293
chrX:68114383 T
T
 C
C
 17 a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
others(14): Show 
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0122
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0013g0042
a0002c0002t0001g0002
a0002c0002t0003g0001
 17 HG00099.hp2
HG01099.hp1
HG01106.hp1
others(14): Show 
HG00099.hp2
HG01099.hp1
HG01106.hp1
HG01192.hp1
HG01243.hp1
HG01346.hp2
HG01358.hp1
HG02451.hp1
HG02559.hp1
HG02615.hp1
HG02818.hp2
HG03130.hp1
HG03492.hp1
HG04199.hp1
NA19030.hp1
NA19043.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1362-1144A>G
c.1362-1144A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 16/24 chrX 68114383
chrX:68115239 C
C
 A
A
 1 a0001c0001t0004g0010
a0001c0001t0004g0010
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.1362-2000G>T
c.1362-2000G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 16/24 chrX 68115239
chrX:68115322 A
A
 C
C
 1 a0001c0001t0001g0066
a0001c0001t0001g0066
 1 NA18990.hp1
NA18990.hp1
 intron_variant MODIFIER c.1362-2083T>G
c.1362-2083T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 16/24 chrX 68115322
chrX:68115338 A
A
 G
G
 1 a0001c0001t0001g0098
a0001c0001t0001g0098
 1 NA18955.hp1
NA18955.hp1
 intron_variant MODIFIER c.1362-2099T>C
c.1362-2099T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 16/24 chrX 68115338
chrX:68115625 C
C
 T
T
 1 a0001c0001t0006g0013
a0001c0001t0006g0013
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.1362-2386G>A
c.1362-2386G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 16/24 chrX 68115625
chrX:68115698 AC
AC
 A
A
 1 a0001c0001t0001g0016
a0001c0001t0001g0016
 1 HG01256.hp1
HG01256.hp1
 intron_variant MODIFIER c.1362-2460delG
c.1362-2460delG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 16/24 chrX 68115698
chrX:68115829 T
T
 C
C
 1 a0001c0001t0006g0013
a0001c0001t0006g0013
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.1362-2590A>G
c.1362-2590A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 16/24 chrX 68115829
chrX:68115950 C
C
 A
A
 1 a0001c0001t0020g0099
a0001c0001t0020g0099
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.1362-2711G>T
c.1362-2711G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 16/24 chrX 68115950
chrX:68116242 A
A
 G
G
 2 a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0007g0023
a0001c0001t0007g0033
 2 HG02559.hp1
NA19030.hp1
HG02559.hp1
NA19030.hp1
 intron_variant MODIFIER c.1362-3003T>C
c.1362-3003T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 16/24 chrX 68116242
chrX:68116522 G
G
 A
A
 5 a0001c0001t0004g0004
a0001c0001t0004g0026
a0001c0001t0004g0030
others(2): Show 
a0001c0001t0004g0004
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0021g0150
 5 HG01081.hp2
HG02055.hp1
HG02109.hp1
others(2): Show 
HG01081.hp2
HG02055.hp1
HG02109.hp1
HG03471.hp1
NA18906.hp1
 intron_variant MODIFIER c.1361+2726C>T
c.1361+2726C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 16/24 chrX 68116522
chrX:68116645 T
T
 G
G
 1 a0001c0001t0008g0112
a0001c0001t0008g0112
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.1361+2603A>C
c.1361+2603A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 16/24 chrX 68116645
chrX:68117077 T
T
 A
A
 2 a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0105
a0001c0001t0006g0106
 2 HG02647.hp1
HG02886.hp2
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.1361+2171A>T
c.1361+2171A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 16/24 chrX 68117077
chrX:68117243 C
C
 T
T
 1 a0001c0001t0001g0082
a0001c0001t0001g0082
 1 HG03710.hp1
HG03710.hp1
 intron_variant MODIFIER c.1361+2005G>A
c.1361+2005G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 16/24 chrX 68117243
chrX:68117805 T
T
 A
A
 1 a0001c0001t0001g0075
a0001c0001t0001g0075
 1 NA18977.hp1
NA18977.hp1
 intron_variant MODIFIER c.1361+1443A>T
c.1361+1443A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 16/24 chrX 68117805
chrX:68118053 T
T
 A
A
 13 a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
others(10): Show 
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0005g0152
 13 HG01255.hp1
HG02109.hp2
HG02145.hp1
others(10): Show 
HG01255.hp1
HG02109.hp2
HG02145.hp1
HG02630.hp2
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.1361+1195A>T
c.1361+1195A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 16/24 chrX 68118053
chrX:68118104 G
G
 A
A
 2 a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0128
a0001c0001t0009g0129
 2 HG01243.hp1
HG02451.hp1
HG01243.hp1
HG02451.hp1
 intron_variant MODIFIER c.1361+1144C>T
c.1361+1144C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 16/24 chrX 68118104
chrX:68118818 C
C
 T
T
 42 a0001c0001t0001g0015
a0001c0001t0001g0040
a0001c0001t0001g0059
others(39): Show 
a0001c0001t0001g0015
a0001c0001t0001g0040
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0144
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0008g0112
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0027g0072
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
 42 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(39): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00673.hp1
HG00738.hp1
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01192.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01891.hp2
HG01943.hp1
HG01952.hp1
HG02027.hp1
HG02074.hp1
HG02109.hp1
HG02132.hp1
HG02615.hp1
HG02683.hp1
HG02723.hp2
HG02818.hp2
HG02886.hp1
HG03209.hp1
HG03492.hp1
HG03516.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18948.hp1
NA18965.hp1
NA18983.hp1
NA18986.hp1
NA19004.hp1
NA19012.hp1
NA19030.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1361+430G>A
c.1361+430G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 16/24 chrX 68118818
chrX:68118888 C
C
 T
T
 6 a0001c0001t0003g0122
a0001c0001t0007g0023
a0001c0001t0007g0032
others(3): Show 
a0001c0001t0003g0122
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0009g0128
a0001c0001t0009g0129
 6 HG01243.hp1
HG02451.hp1
HG02559.hp1
others(3): Show 
HG01243.hp1
HG02451.hp1
HG02559.hp1
HG03130.hp1
NA19030.hp1
NA19043.hp1
 intron_variant MODIFIER c.1361+360G>A
c.1361+360G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 16/24 chrX 68118888
chrX:68119122 T
T
 C
C
 1 a0001c0001t0006g0013
a0001c0001t0006g0013
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.1361+126A>G
c.1361+126A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 16/24 chrX 68119122
chrX:68119394 T
T
 C
C
 1 a0001c0001t0006g0013
a0001c0001t0006g0013
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.1277-62A>G
c.1277-62A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68119394
chrX:68119788 G
G
 C
C
 6 a0001c0001t0003g0122
a0001c0001t0007g0023
a0001c0001t0007g0032
others(3): Show 
a0001c0001t0003g0122
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0009g0128
a0001c0001t0009g0129
 6 HG01243.hp1
HG02451.hp1
HG02559.hp1
others(3): Show 
HG01243.hp1
HG02451.hp1
HG02559.hp1
HG03130.hp1
NA19030.hp1
NA19043.hp1
 intron_variant MODIFIER c.1277-456C>G
c.1277-456C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68119788
chrX:68119976 T
T
 C
C
 1 a0001c0001t0001g0045
a0001c0001t0001g0045
 1 NA19085.hp1
NA19085.hp1
 intron_variant MODIFIER c.1277-644A>G
c.1277-644A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68119976
chrX:68120078 A
A
 G
G
 1 a0001c0001t0006g0013
a0001c0001t0006g0013
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.1277-746T>C
c.1277-746T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68120078
chrX:68120097 C
C
 T
T
 3 a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
 3 HG02280.hp2
HG02451.hp2
HG02922.hp2
HG02280.hp2
HG02451.hp2
HG02922.hp2
 intron_variant MODIFIER c.1277-765G>A
c.1277-765G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68120097
chrX:68120478 T
T
 C
C
 1 a0001c0001t0006g0013
a0001c0001t0006g0013
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.1277-1146A>G
c.1277-1146A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68120478
chrX:68120585 A
A
 T
T
 62 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
others(59): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0154
a0001c0001t0002g0133
a0001c0001t0003g0065
a0001c0001t0011g0061
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0003t0010g0085
a0001c0003t0010g0089
a0004c0005t0012g0024
 62 HG00140.hp1
HG00609.hp1
HG00621.hp1
others(59): Show 
HG00140.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01169.hp2
HG01256.hp1
HG01346.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG02015.hp1
HG02056.hp1
HG02071.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02300.hp1
HG02602.hp1
HG02615.hp2
HG02683.hp2
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG03017.hp1
HG03490.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18966.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.1277-1253T>A
c.1277-1253T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68120585
chrX:68121130 G
G
 A
A
 14 a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
others(11): Show 
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0005g0152
a0001c0001t0019g0003
 14 HG01255.hp1
HG02109.hp2
HG02145.hp1
others(11): Show 
HG01255.hp1
HG02109.hp2
HG02145.hp1
HG02630.hp2
HG02809.hp2
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.1277-1798C>T
c.1277-1798C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68121130
chrX:68121149 C
C
 T
T
 2 a0001c0001t0002g0124
a0001c0001t0002g0144
a0001c0001t0002g0124
a0001c0001t0002g0144
 2 HG02132.hp1
NA18612.hp1
HG02132.hp1
NA18612.hp1
 intron_variant MODIFIER c.1277-1817G>A
c.1277-1817G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68121149
chrX:68121378 C
C
 T
T
 151 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(148): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 151 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(148): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03017.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1277-2046G>A
c.1277-2046G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68121378
chrX:68121643 G
G
 A
A
 1 a0001c0001t0001g0043
a0001c0001t0001g0043
 1 NA18747.hp1
NA18747.hp1
 intron_variant MODIFIER c.1277-2311C>T
c.1277-2311C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68121643
chrX:68121972 C
C
 T
T
 14 a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
others(11): Show 
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0005g0152
a0001c0001t0019g0003
 14 HG01255.hp1
HG02109.hp2
HG02145.hp1
others(11): Show 
HG01255.hp1
HG02109.hp2
HG02145.hp1
HG02630.hp2
HG02809.hp2
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.1277-2640G>A
c.1277-2640G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68121972
chrX:68122083 C
C
 T
T
 1 a0001c0001t0006g0013
a0001c0001t0006g0013
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.1277-2751G>A
c.1277-2751G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68122083
chrX:68122361 T
T
 C
C
 151 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(148): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 151 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(148): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03017.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1277-3029A>G
c.1277-3029A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68122361
chrX:68122977 G
G
 A
A
 14 a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
others(11): Show 
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0005g0152
a0001c0001t0019g0003
 14 HG01255.hp1
HG02109.hp2
HG02145.hp1
others(11): Show 
HG01255.hp1
HG02109.hp2
HG02145.hp1
HG02630.hp2
HG02809.hp2
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.1277-3645C>T
c.1277-3645C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68122977
chrX:68123324 G
G
 T
T
 1 a0001c0001t0001g0040
a0001c0001t0001g0040
 1 NA18965.hp1
NA18965.hp1
 intron_variant MODIFIER c.1277-3992C>A
c.1277-3992C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68123324
chrX:68123531 T
T
 G
G
 1 a0001c0001t0006g0013
a0001c0001t0006g0013
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.1277-4199A>C
c.1277-4199A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68123531
chrX:68123869 G
G
 A
A
 3 a0001c0001t0001g0039
a0001c0001t0001g0071
a0001c0001t0001g0093
a0001c0001t0001g0039
a0001c0001t0001g0071
a0001c0001t0001g0093
 3 HG00642.hp1
HG00735.hp1
HG02698.hp1
HG00642.hp1
HG00735.hp1
HG02698.hp1
 intron_variant MODIFIER c.1277-4537C>T
c.1277-4537C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68123869
chrX:68123954 T
T
 TA
TA
 151 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(148): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 151 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(148): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03017.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1277-4623dupT
c.1277-4623dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68123954
chrX:68124269 G
G
 GT
GT
 1 a0001c0001t0001g0088
a0001c0001t0001g0088
 1 HG02056.hp1
HG02056.hp1
 intron_variant MODIFIER c.1277-4938dupA
c.1277-4938dupA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68124269
chrX:68124592 G
G
 T
T
 1 a0001c0001t0004g0026
a0001c0001t0004g0026
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.1277-5260C>A
c.1277-5260C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68124592
chrX:68124664 C
C
 CT
CT
 32 a0001c0001t0001g0008
a0001c0001t0002g0014
a0001c0001t0002g0019
others(29): Show 
a0001c0001t0001g0008
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0122
a0001c0001t0005g0152
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0013g0042
a0001c0001t0019g0003
a0002c0002t0001g0002
a0002c0002t0003g0001
 32 HG00099.hp2
HG01099.hp1
HG01106.hp1
others(29): Show 
HG00099.hp2
HG01099.hp1
HG01106.hp1
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG02109.hp2
HG02145.hp1
HG02451.hp1
HG02559.hp1
HG02615.hp1
HG02630.hp2
HG02809.hp2
HG02818.hp2
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03492.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG04199.hp1
NA18906.hp2
NA19030.hp1
NA19043.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1277-5333dupA
c.1277-5333dupA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68124664
chrX:68124885 C
C
 T
T
 1 a0001c0001t0004g0004
a0001c0001t0004g0004
 1 HG02109.hp1
HG02109.hp1
 intron_variant MODIFIER c.1277-5553G>A
c.1277-5553G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68124885
chrX:68125114 TTA
TTA
 T
T
 1 a0001c0001t0001g0052
a0001c0001t0001g0052
 1 HG02135.hp1
HG02135.hp1
 intron_variant MODIFIER c.1277-5784_1277-578
others(6): Show 
c.1277-5784_1277-5783delTA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68125114
chrX:68125363 T
T
 G
G
 4 a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
others(1): Show 
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
 4 HG00735.hp2
HG02280.hp2
HG02451.hp2
others(1): Show 
HG00735.hp2
HG02280.hp2
HG02451.hp2
HG02922.hp2
 intron_variant MODIFIER c.1277-6031A>C
c.1277-6031A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68125363
chrX:68125382 T
T
 C
C
 4 a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
others(1): Show 
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
 4 HG00735.hp2
HG02280.hp2
HG02451.hp2
others(1): Show 
HG00735.hp2
HG02280.hp2
HG02451.hp2
HG02922.hp2
 intron_variant MODIFIER c.1277-6050A>G
c.1277-6050A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68125382
chrX:68125872 C
C
 A
A
 1 a0001c0001t0027g0072
a0001c0001t0027g0072
 1 HG00099.hp1
HG00099.hp1
 intron_variant MODIFIER c.1277-6540G>T
c.1277-6540G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68125872
chrX:68125930 A
A
 AATAT
AATAT
 25 a0001c0001t0001g0015
a0001c0001t0001g0040
a0001c0001t0001g0059
others(22): Show 
a0001c0001t0001g0015
a0001c0001t0001g0040
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0144
a0001c0001t0003g0151
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0027g0072
 25 HG00099.hp1
HG00280.hp1
HG00673.hp1
others(22): Show 
HG00099.hp1
HG00280.hp1
HG00673.hp1
HG01167.hp1
HG01169.hp1
HG01258.hp1
HG01261.hp1
HG01891.hp2
HG01943.hp1
HG01952.hp1
HG02027.hp1
HG02132.hp1
HG02683.hp1
HG03209.hp1
HG03516.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18948.hp1
NA18965.hp1
NA18983.hp1
NA18986.hp1
NA19004.hp1
NA19012.hp1
NA19030.hp2
 intron_variant MODIFIER c.1277-6602_1277-659
others(8): Show 
c.1277-6602_1277-6599dupATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68125930
chrX:68125930 A
A
 AATATAT
AATATAT
 6 a0001c0001t0002g0006
a0001c0001t0004g0026
a0001c0001t0004g0030
others(3): Show 
a0001c0001t0002g0006
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0021g0150
a0001c0001t0022g0103
 6 HG01081.hp1
HG01081.hp2
HG02055.hp1
others(3): Show 
HG01081.hp1
HG01081.hp2
HG02055.hp1
HG02074.hp1
HG03471.hp1
NA18906.hp1
 intron_variant MODIFIER c.1277-6604_1277-659
others(10): Show 
c.1277-6604_1277-6599dupATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68125930
chrX:68125930 A
A
 AATATATA
others(1): Show 
AATATATAT
 1 a0001c0001t0020g0099
a0001c0001t0020g0099
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.1277-6606_1277-659
others(12): Show 
c.1277-6606_1277-6599dupATATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68125930
chrX:68125930 A
A
 AATATATA
others(3): Show 
AATATATATAT
 4 a0001c0001t0003g0076
a0001c0001t0007g0023
a0001c0001t0007g0033
others(1): Show 
a0001c0001t0003g0076
a0001c0001t0007g0023
a0001c0001t0007g0033
a0003c0004t0014g0102
 4 HG01192.hp1
HG02559.hp1
HG02886.hp1
others(1): Show 
HG01192.hp1
HG02559.hp1
HG02886.hp1
NA19030.hp1
 intron_variant MODIFIER c.1277-6608_1277-659
others(14): Show 
c.1277-6608_1277-6599dupATATATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68125930
chrX:68125930 A
A
 AATATATA
others(5): Show 
AATATATATATAT
 6 a0001c0001t0003g0035
a0001c0001t0003g0113
a0001c0001t0004g0004
others(3): Show 
a0001c0001t0003g0035
a0001c0001t0003g0113
a0001c0001t0004g0004
a0001c0001t0007g0032
a0002c0002t0001g0002
a0002c0002t0003g0001
 6 HG01099.hp1
HG01358.hp1
HG02109.hp1
others(3): Show 
HG01099.hp1
HG01358.hp1
HG02109.hp1
HG02723.hp2
HG03130.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1277-6610_1277-659
others(16): Show 
c.1277-6610_1277-6599dupATATATATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68125930
chrX:68125930 A
A
 AATATATA
others(7): Show 
AATATATATATATAT
 2 a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0081
a0001c0001t0003g0091
 2 HG00099.hp2
HG03492.hp1
HG00099.hp2
HG03492.hp1
 intron_variant MODIFIER c.1277-6612_1277-659
others(18): Show 
c.1277-6612_1277-6599dupATATATATATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68125930
chrX:68125930 A
A
 AATATATA
others(9): Show 
AATATATATATATATAT
 4 a0001c0001t0003g0100
a0001c0001t0009g0128
a0001c0001t0009g0129
others(1): Show 
a0001c0001t0003g0100
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0013g0042
 4 HG01106.hp1
HG01243.hp1
HG01346.hp2
others(1): Show 
HG01106.hp1
HG01243.hp1
HG01346.hp2
HG02451.hp1
 intron_variant MODIFIER c.1277-6614_1277-659
others(20): Show 
c.1277-6614_1277-6599dupATATATATATATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68125930
chrX:68125930 A
A
 AATATATA
others(11): Show 
AATATATATATATATATAT
 3 a0001c0001t0002g0115
a0001c0001t0002g0125
a0001c0001t0008g0112
a0001c0001t0002g0115
a0001c0001t0002g0125
a0001c0001t0008g0112
 3 HG01255.hp1
HG02145.hp1
HG02818.hp2
HG01255.hp1
HG02145.hp1
HG02818.hp2
 intron_variant MODIFIER c.1277-6616_1277-659
others(22): Show 
c.1277-6616_1277-6599dupATATATATATATATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68125930
chrX:68125930 A
A
 AATATATA
others(15): Show 
AATATATATATATATATATATAT
 4 a0001c0001t0002g0127
a0001c0001t0003g0109
a0001c0001t0003g0122
others(1): Show 
a0001c0001t0002g0127
a0001c0001t0003g0109
a0001c0001t0003g0122
a0001c0001t0005g0152
 4 HG02615.hp1
HG02630.hp2
HG03540.hp1
others(1): Show 
HG02615.hp1
HG02630.hp2
HG03540.hp1
NA19043.hp1
 intron_variant MODIFIER c.1277-6620_1277-659
others(26): Show 
c.1277-6620_1277-6599dupATATATATATATATATATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68125930
chrX:68125930 A
A
 AATATATA
others(17): Show 
AATATATATATATATATATATATAT
 5 a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0131
others(2): Show 
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0063
 5 HG02109.hp2
HG02965.hp1
HG03098.hp1
others(2): Show 
HG02109.hp2
HG02965.hp1
HG03098.hp1
HG04199.hp1
NA18906.hp2
 intron_variant MODIFIER c.1277-6622_1277-659
others(28): Show 
c.1277-6622_1277-6599dupATATATATATATATATATATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68125930
chrX:68125930 A
A
 AATATATA
others(19): Show 
AATATATATATATATATATATATATAT
 1 a0001c0001t0002g0126
a0001c0001t0002g0126
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.1277-6624_1277-659
others(30): Show 
c.1277-6624_1277-6599dupATATATATATATATATATATATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68125930
chrX:68125930 A
A
 AATATATA
others(21): Show 
AATATATATATATATATATATATATATAT
 4 a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
others(1): Show 
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0130
 4 HG02922.hp1
HG03139.hp1
HG03516.hp2
others(1): Show 
HG02922.hp1
HG03139.hp1
HG03516.hp2
HG03579.hp1
 intron_variant MODIFIER c.1277-6599_1277-659
others(32): Show 
c.1277-6599_1277-6598insATATATATATATATATATATATATAT
AT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68125930
chrX:68125930 AATATATA
others(7): Show 
AATATATATATATAT
 A
A
 1 a0001c0001t0006g0013
a0001c0001t0006g0013
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.1277-6612_1277-659
others(18): Show 
c.1277-6612_1277-6599delATATATATATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68125930
chrX:68125954 T
T
 C
C
 1 a0001c0001t0006g0013
a0001c0001t0006g0013
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.1277-6622A>G
c.1277-6622A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68125954
chrX:68125954 T
T
 TATATAC
TATATAC
 1 a0001c0001t0001g0147
a0001c0001t0001g0147
 1 HG01934.hp1
HG01934.hp1
 intron_variant MODIFIER c.1277-6623_1277-662
others(10): Show 
c.1277-6623_1277-6622insGTATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68125954
chrX:68125954 T
T
 TATATATA
others(5): Show 
TATATATATATAC
 2 a0001c0001t0001g0029
a0001c0001t0001g0045
a0001c0001t0001g0029
a0001c0001t0001g0045
 2 NA18988.hp1
NA19085.hp1
NA18988.hp1
NA19085.hp1
 intron_variant MODIFIER c.1277-6623_1277-662
others(16): Show 
c.1277-6623_1277-6622insGTATATATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68125954
chrX:68125954 T
T
 TATATATA
others(7): Show 
TATATATATATACAC
 2 a0001c0003t0010g0085
a0001c0003t0010g0089
a0001c0003t0010g0085
a0001c0003t0010g0089
 2 HG02735.hp1
HG03688.hp1
HG02735.hp1
HG03688.hp1
 intron_variant MODIFIER c.1277-6623_1277-662
others(18): Show 
c.1277-6623_1277-6622insGTGTATATATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68125954
chrX:68125954 T
T
 TATATATA
others(9): Show 
TATATATATATATATAC
 1 a0001c0001t0001g0028
a0001c0001t0001g0028
 1 HG02083.hp1
HG02083.hp1
 intron_variant MODIFIER c.1277-6623_1277-662
others(20): Show 
c.1277-6623_1277-6622insGTATATATATATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68125954
chrX:68125954 T
T
 TATATATA
others(11): Show 
TATATATATATATATATAC
 2 a0001c0001t0001g0051
a0001c0001t0001g0149
a0001c0001t0001g0051
a0001c0001t0001g0149
 2 HG00621.hp1
NA20805.hp1
HG00621.hp1
NA20805.hp1
 intron_variant MODIFIER c.1277-6623_1277-662
others(22): Show 
c.1277-6623_1277-6622insGTATATATATATATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68125954
chrX:68125954 T
T
 TATATATA
others(13): Show 
TATATATATATATATATATAC
 3 a0001c0001t0001g0049
a0001c0001t0001g0064
a0001c0001t0001g0069
a0001c0001t0001g0049
a0001c0001t0001g0064
a0001c0001t0001g0069
 3 HG00140.hp1
HG02300.hp1
NA18945.hp1
HG00140.hp1
HG02300.hp1
NA18945.hp1
 intron_variant MODIFIER c.1277-6623_1277-662
others(24): Show 
c.1277-6623_1277-6622insGTATATATATATATATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68125954
chrX:68125954 T
T
 TATATATA
others(15): Show 
TATATATATATATATATATATAC
 11 a0001c0001t0001g0027
a0001c0001t0001g0038
a0001c0001t0001g0071
others(8): Show 
a0001c0001t0001g0027
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0002g0133
a0001c0001t0003g0065
a0001c0001t0011g0061
a0004c0005t0012g0024
 11 HG00642.hp1
HG00735.hp1
HG01169.hp2
others(8): Show 
HG00642.hp1
HG00735.hp1
HG01169.hp2
HG01891.hp1
HG02602.hp1
HG02615.hp2
HG03017.hp1
NA18955.hp1
NA18970.hp1
NA18982.hp1
NA18994.hp1
 intron_variant MODIFIER c.1277-6623_1277-662
others(26): Show 
c.1277-6623_1277-6622insGTATATATATATATATATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68125954
chrX:68125954 T
T
 TATATATA
others(17): Show 
TATATATATATATATATATATATAC
 11 a0001c0001t0001g0016
a0001c0001t0001g0025
a0001c0001t0001g0039
others(8): Show 
a0001c0001t0001g0016
a0001c0001t0001g0025
a0001c0001t0001g0039
a0001c0001t0001g0052
a0001c0001t0001g0062
a0001c0001t0001g0068
a0001c0001t0001g0073
a0001c0001t0001g0075
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0145
 11 HG01069.hp1
HG01256.hp1
HG01515.hp1
others(8): Show 
HG01069.hp1
HG01256.hp1
HG01515.hp1
HG02135.hp1
HG02698.hp1
NA18944.hp1
NA18966.hp1
NA18977.hp1
NA19009.hp1
NA19066.hp1
NA19068.hp1
 intron_variant MODIFIER c.1277-6623_1277-662
others(28): Show 
c.1277-6623_1277-6622insGTATATATATATATATATATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68125954
chrX:68125954 T
T
 TATATATA
others(19): Show 
TATATATATATATATATATATATATAC
 14 a0001c0001t0001g0009
a0001c0001t0001g0043
a0001c0001t0001g0050
others(11): Show 
a0001c0001t0001g0009
a0001c0001t0001g0043
a0001c0001t0001g0050
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0066
a0001c0001t0001g0070
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0154
a0001c0001t0025g0087
a0001c0001t0028g0084
 14 HG00609.hp1
HG02056.hp1
HG02129.hp1
others(11): Show 
HG00609.hp1
HG02056.hp1
HG02129.hp1
HG02683.hp2
HG03490.hp1
NA18747.hp1
NA18943.hp1
NA18974.hp1
NA18990.hp1
NA18995.hp1
NA19005.hp1
NA19056.hp1
NA19060.hp1
NA19070.hp1
 intron_variant MODIFIER c.1277-6623_1277-662
others(30): Show 
c.1277-6623_1277-6622insGTATATATATATATATATATATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68125954
chrX:68125954 T
T
 TATATATA
others(21): Show 
TATATATATATATATATATATATATATAC
 6 a0001c0001t0001g0008
a0001c0001t0001g0017
a0001c0001t0001g0044
others(3): Show 
a0001c0001t0001g0008
a0001c0001t0001g0017
a0001c0001t0001g0044
a0001c0001t0001g0048
a0001c0001t0001g0067
a0001c0001t0023g0037
 6 HG01346.hp1
HG02738.hp1
HG03942.hp1
others(3): Show 
HG01346.hp1
HG02738.hp1
HG03942.hp1
HG04115.hp1
NA18952.hp1
NA18971.hp1
 intron_variant MODIFIER c.1277-6623_1277-662
others(32): Show 
c.1277-6623_1277-6622insGTATATATATATATATATATATATAT
AT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68125954
chrX:68125954 T
T
 TATATATA
others(23): Show 
TATATATATATATATATATATATATATATAC
 6 a0001c0001t0001g0060
a0001c0001t0001g0078
a0001c0001t0001g0079
others(3): Show 
a0001c0001t0001g0060
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0092
a0001c0001t0001g0141
a0001c0001t0029g0031
 6 HG01074.hp1
HG02015.hp1
NA18960.hp1
others(3): Show 
HG01074.hp1
HG02015.hp1
NA18960.hp1
NA18962.hp1
NA19088.hp1
NA20752.hp1
 intron_variant MODIFIER c.1277-6623_1277-662
others(34): Show 
c.1277-6623_1277-6622insGTATATATATATATATATATATATAT
ATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68125954
chrX:68125954 T
T
 TATATATA
others(25): Show 
TATATATATATATATATATATATATATATATAC
 3 a0001c0001t0001g0046
a0001c0001t0001g0082
a0001c0001t0001g0090
a0001c0001t0001g0046
a0001c0001t0001g0082
a0001c0001t0001g0090
 3 HG01433.hp1
HG01928.hp1
HG03710.hp1
HG01433.hp1
HG01928.hp1
HG03710.hp1
 intron_variant MODIFIER c.1277-6623_1277-662
others(36): Show 
c.1277-6623_1277-6622insGTATATATATATATATATATATATAT
ATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68125954
chrX:68125954 T
T
 TATATATA
others(27): Show 
TATATATATATATATATATATATATATATATATAC
 1 a0001c0001t0001g0077
a0001c0001t0001g0077
 1 HG02071.hp1
HG02071.hp1
 intron_variant MODIFIER c.1277-6623_1277-662
others(38): Show 
c.1277-6623_1277-6622insGTATATATATATATATATATATATAT
ATATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68125954
chrX:68125954 T
T
 TATATATA
others(29): Show 
TATATATATATATATATATATATATATATATATATAC
 1 a0001c0001t0001g0041
a0001c0001t0001g0041
 1 NA19007.hp1
NA19007.hp1
 intron_variant MODIFIER c.1277-6623_1277-662
others(40): Show 
c.1277-6623_1277-6622insGTATATATATATATATATATATATAT
ATATATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68125954
chrX:68125954 T
T
 TATATATA
others(31): Show 
TATATATATATATATATATATATATATATATATATATAC
 1 a0001c0001t0024g0007
a0001c0001t0024g0007
 1 NA19000.hp1
NA19000.hp1
 intron_variant MODIFIER c.1277-6623_1277-662
others(42): Show 
c.1277-6623_1277-6622insGTATATATATATATATATATATATAT
ATATATATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68125954
chrX:68125958 C
C
 T
T
 13 a0001c0001t0002g0021
a0001c0001t0002g0134
a0001c0001t0003g0018
others(10): Show 
a0001c0001t0002g0021
a0001c0001t0002g0134
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0139
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0008g0096
a0001c0001t0026g0056
a0001c0001t0030g0155
 13 HG02257.hp1
HG02257.hp2
HG02258.hp1
others(10): Show 
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02486.hp1
HG02559.hp2
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02895.hp1
HG02976.hp1
HG03540.hp2
NA20905.hp1
 intron_variant MODIFIER c.1277-6626G>A
c.1277-6626G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68125958
chrX:68125960 T
T
 TAC
TAC
 6 a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
others(3): Show 
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0006g0105
a0001c0001t0006g0106
 6 HG00735.hp2
HG02280.hp2
HG02451.hp2
others(3): Show 
HG00735.hp2
HG02280.hp2
HG02451.hp2
HG02647.hp1
HG02886.hp2
HG02922.hp2
 intron_variant MODIFIER c.1277-6630_1277-662
others(6): Show 
c.1277-6630_1277-6629dupGT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68125960
chrX:68125960 T
T
 TATACATA
others(1): Show 
TATACATAC
 4 a0001c0001t0002g0021
a0001c0001t0005g0110
a0001c0001t0005g0137
others(1): Show 
a0001c0001t0002g0021
a0001c0001t0005g0110
a0001c0001t0005g0137
a0001c0001t0008g0096
 4 HG02257.hp1
HG02257.hp2
HG02818.hp1
others(1): Show 
HG02257.hp1
HG02257.hp2
HG02818.hp1
HG03540.hp2
 intron_variant MODIFIER c.1277-6629_1277-662
others(12): Show 
c.1277-6629_1277-6628insGTATGTAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68125960
chrX:68125960 T
T
 TATATACA
others(3): Show 
TATATACATAC
 5 a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0139
others(2): Show 
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0139
a0001c0001t0005g0138
a0001c0001t0030g0155
 5 HG02258.hp1
HG02280.hp1
HG02809.hp1
others(2): Show 
HG02258.hp1
HG02280.hp1
HG02809.hp1
HG02895.hp1
HG02976.hp1
 intron_variant MODIFIER c.1277-6629_1277-662
others(14): Show 
c.1277-6629_1277-6628insGTATGTATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68125960
chrX:68125960 T
T
 TATATATA
others(5): Show 
TATATATACATAC
 2 a0001c0001t0005g0107
a0001c0001t0005g0136
a0001c0001t0005g0107
a0001c0001t0005g0136
 2 HG02486.hp1
HG02717.hp1
HG02486.hp1
HG02717.hp1
 intron_variant MODIFIER c.1277-6629_1277-662
others(16): Show 
c.1277-6629_1277-6628insGTATGTATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68125960
chrX:68125960 T
T
 TATATATA
others(7): Show 
TATATATATACATAC
 1 a0001c0001t0002g0134
a0001c0001t0002g0134
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.1277-6629_1277-662
others(18): Show 
c.1277-6629_1277-6628insGTATGTATATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68125960
chrX:68125960 T
T
 TATATATA
others(21): Show 
TATATATATATATATATATATATACATAC
 1 a0001c0001t0026g0056
a0001c0001t0026g0056
 1 NA20905.hp1
NA20905.hp1
 intron_variant MODIFIER c.1277-6629_1277-662
others(32): Show 
c.1277-6629_1277-6628insGTATGTATATATATATATATATATAT
AT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68125960
chrX:68126450 A
A
 AT
AT
 3 a0001c0001t0004g0026
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0004g0026
a0001c0001t0020g0099
a0001c0001t0021g0150
 3 HG00738.hp1
HG03471.hp1
NA18906.hp1
HG00738.hp1
HG03471.hp1
NA18906.hp1
 intron_variant MODIFIER c.1277-7119dupA
c.1277-7119dupA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68126450
chrX:68126450 A
A
 ATT
ATT
 2 a0001c0001t0004g0030
a0001c0001t0006g0013
a0001c0001t0004g0030
a0001c0001t0006g0013
 2 HG01081.hp2
HG02630.hp1
HG01081.hp2
HG02630.hp1
 intron_variant MODIFIER c.1277-7120_1277-711
others(6): Show 
c.1277-7120_1277-7119dupAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68126450
chrX:68126450 A
A
 ATTT
ATTT
 1 a0001c0001t0004g0034
a0001c0001t0004g0034
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.1277-7121_1277-711
others(7): Show 
c.1277-7121_1277-7119dupAAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68126450
chrX:68126450 AT
AT
 A
A
 1 a0001c0001t0001g0025
a0001c0001t0001g0025
 1 HG01515.hp1
HG01515.hp1
 intron_variant MODIFIER c.1277-7119delA
c.1277-7119delA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68126450
chrX:68126523 C
C
 A
A
 1 a0001c0001t0005g0152
a0001c0001t0005g0152
 1 HG02630.hp2
HG02630.hp2
 intron_variant MODIFIER c.1277-7191G>T
c.1277-7191G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68126523
chrX:68126592 G
G
 A
A
 1 a0001c0001t0004g0010
a0001c0001t0004g0010
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.1277-7260C>T
c.1277-7260C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68126592
chrX:68126701 T
T
 C
C
 1 a0001c0001t0001g0066
a0001c0001t0001g0066
 1 NA18990.hp1
NA18990.hp1
 intron_variant MODIFIER c.1277-7369A>G
c.1277-7369A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68126701
chrX:68126715 G
G
 A
A
 2 a0001c0001t0001g0068
a0001c0001t0001g0073
a0001c0001t0001g0068
a0001c0001t0001g0073
 2 NA19066.hp1
NA19068.hp1
NA19066.hp1
NA19068.hp1
 intron_variant MODIFIER c.1277-7383C>T
c.1277-7383C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68126715
chrX:68127273 G
G
 A
A
 1 a0001c0001t0023g0037
a0001c0001t0023g0037
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.1277-7941C>T
c.1277-7941C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68127273
chrX:68127369 G
G
 T
T
 1 a0003c0004t0014g0102
a0003c0004t0014g0102
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.1277-8037C>A
c.1277-8037C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68127369
chrX:68127549 G
G
 T
T
 61 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
others(58): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0154
a0001c0001t0002g0133
a0001c0001t0003g0065
a0001c0001t0011g0061
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0003t0010g0085
a0001c0003t0010g0089
a0004c0005t0012g0024
 61 HG00140.hp1
HG00609.hp1
HG00621.hp1
others(58): Show 
HG00140.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01169.hp2
HG01256.hp1
HG01346.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG02015.hp1
HG02056.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02300.hp1
HG02602.hp1
HG02615.hp2
HG02683.hp2
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG03017.hp1
HG03490.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18966.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.1277-8217C>A
c.1277-8217C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68127549
chrX:68127645 T
T
 A
A
 1 a0001c0001t0021g0150
a0001c0001t0021g0150
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.1277-8313A>T
c.1277-8313A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68127645
chrX:68127808 C
C
 G
G
 57 a0001c0001t0001g0015
a0001c0001t0001g0040
a0001c0001t0001g0043
others(54): Show 
a0001c0001t0001g0015
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0097
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0008g0096
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0003c0004t0014g0102
 57 HG00099.hp1
HG00280.hp1
HG00673.hp1
others(54): Show 
HG00099.hp1
HG00280.hp1
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01258.hp1
HG01261.hp1
HG01891.hp2
HG01943.hp1
HG01952.hp1
HG02027.hp1
HG02055.hp1
HG02071.hp1
HG02074.hp1
HG02109.hp1
HG02132.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp2
HG02976.hp1
HG03209.hp1
HG03471.hp1
HG03516.hp1
HG03540.hp2
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18948.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18983.hp1
NA18986.hp1
NA19004.hp1
NA19012.hp1
NA19070.hp1
 intron_variant MODIFIER c.1277-8476G>C
c.1277-8476G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68127808
chrX:68127906 C
C
 CA
CA
 1 a0001c0001t0001g0029
a0001c0001t0001g0029
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.1277-8575dupT
c.1277-8575dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68127906
chrX:68128080 C
C
 T
T
 13 a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
others(10): Show 
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0005g0152
 13 HG01255.hp1
HG02109.hp2
HG02145.hp1
others(10): Show 
HG01255.hp1
HG02109.hp2
HG02145.hp1
HG02630.hp2
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.1277-8748G>A
c.1277-8748G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68128080
chrX:68128371 TA
TA
 T
T
 1 a0001c0001t0001g0029
a0001c0001t0001g0029
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.1277-9040delT
c.1277-9040delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68128371
chrX:68128430 T
T
 A
A
 4 a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
others(1): Show 
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
 4 HG02559.hp1
HG03130.hp1
NA19030.hp1
others(1): Show 
HG02559.hp1
HG03130.hp1
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.1277-9098A>T
c.1277-9098A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68128430
chrX:68128511 AGAGAG
AGAGAG
 A
A
 61 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
others(58): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0154
a0001c0001t0002g0133
a0001c0001t0003g0065
a0001c0001t0011g0061
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0003t0010g0085
a0001c0003t0010g0089
a0004c0005t0012g0024
 61 HG00140.hp1
HG00609.hp1
HG00621.hp1
others(58): Show 
HG00140.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01169.hp2
HG01256.hp1
HG01346.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG02015.hp1
HG02056.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02300.hp1
HG02602.hp1
HG02615.hp2
HG02683.hp2
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG03017.hp1
HG03490.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18966.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.1277-9184_1277-918
others(9): Show 
c.1277-9184_1277-9180delCTCTC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68128511
chrX:68128535 T
T
 C
C
 36 a0001c0001t0001g0015
a0001c0001t0001g0040
a0001c0001t0001g0043
others(33): Show 
a0001c0001t0001g0015
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0097
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0144
a0001c0001t0003g0113
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0003c0004t0014g0102
 36 HG00099.hp1
HG00280.hp1
HG00673.hp1
others(33): Show 
HG00099.hp1
HG00280.hp1
HG00673.hp1
HG00738.hp1
HG01081.hp1
HG01167.hp1
HG01169.hp1
HG01258.hp1
HG01261.hp1
HG01891.hp2
HG01943.hp1
HG01952.hp1
HG02027.hp1
HG02071.hp1
HG02074.hp1
HG02109.hp1
HG02132.hp1
HG02683.hp1
HG02723.hp2
HG02886.hp1
HG03209.hp1
HG03516.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18948.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18983.hp1
NA18986.hp1
NA19004.hp1
NA19012.hp1
NA19030.hp2
NA19070.hp1
 intron_variant MODIFIER c.1277-9203A>G
c.1277-9203A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68128535
chrX:68128582 C
C
 T
T
 1 a0001c0001t0007g0022
a0001c0001t0007g0022
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.1277-9250G>A
c.1277-9250G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68128582
chrX:68128666 A
A
 G
G
 1 a0001c0001t0004g0004
a0001c0001t0004g0004
 1 HG02109.hp1
HG02109.hp1
 intron_variant MODIFIER c.1277-9334T>C
c.1277-9334T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68128666
chrX:68128785 A
A
 G
G
 1 a0001c0001t0006g0013
a0001c0001t0006g0013
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.1277-9453T>C
c.1277-9453T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68128785
chrX:68129038 A
A
 AAC
AAC
 1 a0001c0001t0001g0029
a0001c0001t0001g0029
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.1277-9708_1277-970
others(6): Show 
c.1277-9708_1277-9707dupGT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68129038
chrX:68129337 G
G
 C
C
 63 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
others(60): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0154
a0001c0001t0002g0133
a0001c0001t0003g0065
a0001c0001t0011g0061
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0003t0010g0085
a0001c0003t0010g0089
a0004c0005t0012g0024
 63 HG00140.hp1
HG00609.hp1
HG00621.hp1
others(60): Show 
HG00140.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01169.hp2
HG01256.hp1
HG01346.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG02015.hp1
HG02056.hp1
HG02071.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02300.hp1
HG02602.hp1
HG02615.hp2
HG02683.hp2
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG03017.hp1
HG03490.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.1277-10005C>G
c.1277-10005C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68129337
chrX:68129401 T
T
 C
C
 1 a0001c0001t0003g0122
a0001c0001t0003g0122
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.1277-10069A>G
c.1277-10069A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68129401
chrX:68129700 T
T
 C
C
 2 a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0105
a0001c0001t0006g0106
 2 HG02647.hp1
HG02886.hp2
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.1277-10368A>G
c.1277-10368A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68129700
chrX:68130214 C
C
 T
T
 151 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(148): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 151 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(148): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03017.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1277-10882G>A
c.1277-10882G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68130214
chrX:68130312 T
T
 G
G
 2 a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0054
a0001c0001t0002g0055
 2 NA18983.hp1
NA18986.hp1
NA18983.hp1
NA18986.hp1
 intron_variant MODIFIER c.1277-10980A>C
c.1277-10980A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68130312
chrX:68130630 C
C
 G
G
 2 a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0003g0111
a0001c0001t0003g0118
 2 HG02572.hp1
HG02976.hp2
HG02572.hp1
HG02976.hp2
 intron_variant MODIFIER c.1277-11298G>C
c.1277-11298G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68130630
chrX:68130924 G
G
 A
A
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.1277-11592C>T
c.1277-11592C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68130924
chrX:68131190 T
T
 TTTTA
TTTTA
 43 a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0038
others(40): Show 
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0038
a0001c0001t0001g0070
a0001c0001t0001g0079
a0001c0001t0002g0006
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0094
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0020g0099
a0001c0001t0023g0037
a0001c0001t0030g0155
 43 HG00735.hp2
HG00738.hp1
HG01099.hp1
others(40): Show 
HG00735.hp2
HG00738.hp1
HG01099.hp1
HG01255.hp1
HG02074.hp1
HG02109.hp2
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp2
HG02602.hp1
HG02630.hp2
HG02647.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG04115.hp1
NA18906.hp2
NA18983.hp1
NA18986.hp1
NA18995.hp1
NA19004.hp1
NA19030.hp1
NA19056.hp1
NA20752.hp1
 intron_variant MODIFIER c.1277-11862_1277-11
others(10): Show 
c.1277-11862_1277-11859dupTAAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68131190
chrX:68131190 T
T
 TTTTATTT
others(1): Show 
TTTTATTTA
 11 a0001c0001t0001g0090
a0001c0001t0002g0083
a0001c0001t0004g0004
others(8): Show 
a0001c0001t0001g0090
a0001c0001t0002g0083
a0001c0001t0004g0004
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0005g0107
a0001c0001t0006g0013
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0023
a0001c0001t0019g0003
 11 HG01081.hp2
HG01167.hp1
HG01169.hp1
others(8): Show 
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01433.hp1
HG02055.hp1
HG02109.hp1
HG02486.hp1
HG02559.hp1
HG02630.hp1
HG02809.hp2
NA18948.hp1
 intron_variant MODIFIER c.1277-11866_1277-11
others(14): Show 
c.1277-11866_1277-11859dupTAAATAAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68131190
chrX:68131190 TTTTA
TTTTA
 T
T
 14 a0001c0001t0001g0046
a0001c0001t0001g0053
a0001c0001t0001g0140
others(11): Show 
a0001c0001t0001g0046
a0001c0001t0001g0053
a0001c0001t0001g0140
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0122
a0001c0001t0013g0042
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 14 HG00099.hp2
HG01106.hp1
HG01169.hp2
others(11): Show 
HG00099.hp2
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01346.hp2
HG01358.hp1
HG01928.hp1
HG02615.hp1
HG03492.hp1
HG04199.hp1
NA18966.hp1
NA18974.hp1
NA19043.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1277-11862_1277-11
others(10): Show 
c.1277-11862_1277-11859delTAAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68131190
chrX:68131304 C
C
 T
T
 3 a0001c0001t0002g0108
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0108
a0001c0001t0002g0130
a0001c0001t0002g0131
 3 HG02965.hp1
HG03139.hp1
HG03516.hp2
HG02965.hp1
HG03139.hp1
HG03516.hp2
 intron_variant MODIFIER c.1277-11972G>A
c.1277-11972G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68131304
chrX:68131366 C
C
 A
A
 31 a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
others(28): Show 
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0122
a0001c0001t0005g0152
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0013g0042
a0001c0001t0019g0003
a0002c0002t0001g0002
a0002c0002t0003g0001
 31 HG00099.hp2
HG01099.hp1
HG01106.hp1
others(28): Show 
HG00099.hp2
HG01099.hp1
HG01106.hp1
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp2
HG01358.hp1
HG02109.hp2
HG02145.hp1
HG02451.hp1
HG02559.hp1
HG02615.hp1
HG02630.hp2
HG02809.hp2
HG02818.hp2
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03492.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG04199.hp1
NA18906.hp2
NA19030.hp1
NA19043.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1277-12034G>T
c.1277-12034G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68131366
chrX:68131660 T
T
 C
C
 1 a0001c0001t0008g0112
a0001c0001t0008g0112
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.1277-12328A>G
c.1277-12328A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68131660
chrX:68131703 G
G
 A
A
 151 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(148): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 151 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(148): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03017.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1277-12371C>T
c.1277-12371C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68131703
chrX:68131933 G
G
 A
A
 3 a0001c0001t0001g0025
a0001c0001t0001g0064
a0001c0001t0001g0069
a0001c0001t0001g0025
a0001c0001t0001g0064
a0001c0001t0001g0069
 3 HG00140.hp1
HG01515.hp1
HG02300.hp1
HG00140.hp1
HG01515.hp1
HG02300.hp1
 intron_variant MODIFIER c.1277-12601C>T
c.1277-12601C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68131933
chrX:68131935 A
A
 G
G
 17 a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
others(14): Show 
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0122
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0013g0042
a0002c0002t0001g0002
a0002c0002t0003g0001
 17 HG00099.hp2
HG01099.hp1
HG01106.hp1
others(14): Show 
HG00099.hp2
HG01099.hp1
HG01106.hp1
HG01192.hp1
HG01243.hp1
HG01346.hp2
HG01358.hp1
HG02451.hp1
HG02559.hp1
HG02615.hp1
HG02818.hp2
HG03130.hp1
HG03492.hp1
HG04199.hp1
NA19030.hp1
NA19043.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1277-12603T>C
c.1277-12603T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68131935
chrX:68132066 G
G
 A
A
 2 a0001c0001t0001g0052
a0001c0001t0001g0145
a0001c0001t0001g0052
a0001c0001t0001g0145
 2 HG02135.hp1
NA18944.hp1
HG02135.hp1
NA18944.hp1
 intron_variant MODIFIER c.1277-12734C>T
c.1277-12734C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68132066
chrX:68132097 A
A
 T
T
 1 a0001c0001t0019g0003
a0001c0001t0019g0003
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.1277-12765T>A
c.1277-12765T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68132097
chrX:68132098 GTCTGATA
others(1): Show 
GTCTGATAT
 G
G
 1 a0001c0001t0019g0003
a0001c0001t0019g0003
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.1277-12774_1277-12
others(14): Show 
c.1277-12774_1277-12767delATATCAGA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68132098
chrX:68132164 A
A
 C
C
 1 a0001c0001t0003g0091
a0001c0001t0003g0091
 1 HG00099.hp2
HG00099.hp2
 intron_variant MODIFIER c.1277-12832T>G
c.1277-12832T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68132164
chrX:68132259 T
T
 C
C
 1 a0001c0001t0004g0034
a0001c0001t0004g0034
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.1277-12927A>G
c.1277-12927A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68132259
chrX:68132277 T
T
 C
C
 151 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(148): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 151 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(148): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03017.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1277-12945A>G
c.1277-12945A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68132277
chrX:68132453 C
C
 A
A
 1 a0001c0001t0001g0147
a0001c0001t0001g0147
 1 HG01934.hp1
HG01934.hp1
 intron_variant MODIFIER c.1277-13121G>T
c.1277-13121G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68132453
chrX:68132561 A
A
 AG
AG
 1 a0001c0001t0023g0037
a0001c0001t0023g0037
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.1277-13230dupC
c.1277-13230dupC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68132561
chrX:68132707 A
A
 AAT
AAT
 2 a0001c0001t0001g0015
a0001c0001t0002g0057
a0001c0001t0001g0015
a0001c0001t0002g0057
 2 NA19004.hp1
NA19012.hp1
NA19004.hp1
NA19012.hp1
 intron_variant MODIFIER c.1277-13376_1277-13
others(8): Show 
c.1277-13376_1277-13375insAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68132707
chrX:68132707 A
A
 T
T
 6 a0001c0001t0003g0122
a0001c0001t0007g0023
a0001c0001t0007g0032
others(3): Show 
a0001c0001t0003g0122
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0009g0128
a0001c0001t0009g0129
 6 HG01243.hp1
HG02451.hp1
HG02559.hp1
others(3): Show 
HG01243.hp1
HG02451.hp1
HG02559.hp1
HG03130.hp1
NA19030.hp1
NA19043.hp1
 intron_variant MODIFIER c.1277-13375T>A
c.1277-13375T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68132707
chrX:68132739 C
C
 CA
CA
 132 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(129): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
 132 HG00099.hp1
HG00140.hp1
HG00280.hp1
others(129): Show 
HG00099.hp1
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03017.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1277-13408dupT
c.1277-13408dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68132739
chrX:68132739 C
C
 CAA
CAA
 11 a0001c0001t0001g0066
a0001c0001t0002g0133
a0001c0001t0003g0151
others(8): Show 
a0001c0001t0001g0066
a0001c0001t0002g0133
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0007g0022
a0001c0001t0021g0150
 11 HG01081.hp2
HG01891.hp1
HG01891.hp2
others(8): Show 
HG01081.hp2
HG01891.hp1
HG01891.hp2
HG02109.hp1
HG03209.hp1
HG03471.hp1
HG03516.hp1
NA18522.hp1
NA18906.hp1
NA18990.hp1
NA19030.hp2
 intron_variant MODIFIER c.1277-13409_1277-13
others(8): Show 
c.1277-13409_1277-13408dupTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68132739
chrX:68132739 C
C
 CAAA
CAAA
 1 a0001c0001t0004g0034
a0001c0001t0004g0034
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.1277-13410_1277-13
others(9): Show 
c.1277-13410_1277-13408dupTTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68132739
chrX:68132777 T
T
 C
C
 4 a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
others(1): Show 
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
 4 HG00735.hp2
HG02280.hp2
HG02451.hp2
others(1): Show 
HG00735.hp2
HG02280.hp2
HG02451.hp2
HG02922.hp2
 intron_variant MODIFIER c.1277-13445A>G
c.1277-13445A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68132777
chrX:68132856 G
G
 A
A
 2 a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0081
a0001c0001t0003g0091
 2 HG00099.hp2
HG03492.hp1
HG00099.hp2
HG03492.hp1
 intron_variant MODIFIER c.1277-13524C>T
c.1277-13524C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68132856
chrX:68132898 G
G
 T
T
 2 a0001c0001t0016g0119
a0001c0001t0022g0103
a0001c0001t0016g0119
a0001c0001t0022g0103
 2 HG01081.hp1
HG02683.hp1
HG01081.hp1
HG02683.hp1
 intron_variant MODIFIER c.1277-13566C>A
c.1277-13566C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68132898
chrX:68133109 G
G
 A
A
 3 a0001c0001t0003g0076
a0002c0002t0001g0002
a0002c0002t0003g0001
a0001c0001t0003g0076
a0002c0002t0001g0002
a0002c0002t0003g0001
 3 HG01192.hp1
HG01358.hp1
homoSapiens_chm13v2.hp1
HG01192.hp1
HG01358.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1277-13777C>T
c.1277-13777C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68133109
chrX:68133438 C
C
 G
G
 1 a0001c0001t0001g0050
a0001c0001t0001g0050
 1 HG00609.hp1
HG00609.hp1
 intron_variant MODIFIER c.1277-14106G>C
c.1277-14106G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68133438
chrX:68133628 C
C
 T
T
 150 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(147): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 150 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(147): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03017.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1277-14296G>A
c.1277-14296G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68133628
chrX:68133631 T
T
 A
A
 1 a0001c0001t0001g0071
a0001c0001t0001g0071
 1 HG00642.hp1
HG00642.hp1
 intron_variant MODIFIER c.1277-14299A>T
c.1277-14299A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68133631
chrX:68134544 G
G
 A
A
 1 a0001c0001t0019g0003
a0001c0001t0019g0003
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.1277-15212C>T
c.1277-15212C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68134544
chrX:68134645 C
C
 T
T
 14 a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
others(11): Show 
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0005g0152
a0001c0001t0019g0003
 14 HG01255.hp1
HG02109.hp2
HG02145.hp1
others(11): Show 
HG01255.hp1
HG02109.hp2
HG02145.hp1
HG02630.hp2
HG02809.hp2
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.1277-15313G>A
c.1277-15313G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68134645
chrX:68135096 C
C
 T
T
 61 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
others(58): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0154
a0001c0001t0002g0133
a0001c0001t0003g0065
a0001c0001t0011g0061
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0003t0010g0085
a0001c0003t0010g0089
a0004c0005t0012g0024
 61 HG00140.hp1
HG00609.hp1
HG00621.hp1
others(58): Show 
HG00140.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01169.hp2
HG01256.hp1
HG01346.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG02015.hp1
HG02056.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02300.hp1
HG02602.hp1
HG02615.hp2
HG02683.hp2
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG03017.hp1
HG03490.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18966.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.1277-15764G>A
c.1277-15764G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68135096
chrX:68135284 CAAAT
CAAAT
 C
C
 14 a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
others(11): Show 
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0005g0152
a0001c0001t0019g0003
 14 HG01255.hp1
HG02109.hp2
HG02145.hp1
others(11): Show 
HG01255.hp1
HG02109.hp2
HG02145.hp1
HG02630.hp2
HG02809.hp2
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.1277-15956_1277-15
others(10): Show 
c.1277-15956_1277-15953delATTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68135284
chrX:68135720 T
T
 C
C
 4 a0001c0001t0001g0027
a0001c0001t0001g0041
a0001c0001t0001g0092
others(1): Show 
a0001c0001t0001g0027
a0001c0001t0001g0041
a0001c0001t0001g0092
a0001c0001t0024g0007
 4 NA18960.hp1
NA18994.hp1
NA19000.hp1
others(1): Show 
NA18960.hp1
NA18994.hp1
NA19000.hp1
NA19007.hp1
 intron_variant MODIFIER c.1277-16388A>G
c.1277-16388A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68135720
chrX:68136171 TTAAA
TTAAA
 T
T
 1 a0001c0001t0023g0037
a0001c0001t0023g0037
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.1277-16843_1277-16
others(10): Show 
c.1277-16843_1277-16840delTTTA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68136171
chrX:68136179 ATG
ATG
 A
A
 1 a0001c0001t0003g0081
a0001c0001t0003g0081
 1 HG03492.hp1
HG03492.hp1
 intron_variant MODIFIER c.1277-16849_1277-16
others(8): Show 
c.1277-16849_1277-16848delCA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68136179
chrX:68136200 A
A
 C
C
 56 a0001c0001t0001g0015
a0001c0001t0001g0040
a0001c0001t0001g0043
others(53): Show 
a0001c0001t0001g0015
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0008g0096
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0003c0004t0014g0102
 56 HG00099.hp1
HG00280.hp1
HG00673.hp1
others(53): Show 
HG00099.hp1
HG00280.hp1
HG00673.hp1
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01258.hp1
HG01261.hp1
HG01891.hp2
HG01943.hp1
HG01952.hp1
HG02027.hp1
HG02055.hp1
HG02071.hp1
HG02074.hp1
HG02109.hp1
HG02132.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp2
HG02976.hp1
HG03209.hp1
HG03471.hp1
HG03516.hp1
HG03540.hp2
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18948.hp1
NA18962.hp1
NA18965.hp1
NA18983.hp1
NA18986.hp1
NA19004.hp1
NA19012.hp1
NA19030.hp2
NA19070.hp1
 intron_variant MODIFIER c.1277-16868T>G
c.1277-16868T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68136200
chrX:68136291 C
C
 CT
CT
 9 a0001c0001t0003g0122
a0001c0001t0004g0034
a0001c0001t0005g0138
others(6): Show 
a0001c0001t0003g0122
a0001c0001t0004g0034
a0001c0001t0005g0138
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0009g0128
a0001c0001t0015g0148
a0001c0001t0030g0155
 9 HG01943.hp1
HG02055.hp1
HG02451.hp1
others(6): Show 
HG01943.hp1
HG02055.hp1
HG02451.hp1
HG02559.hp1
HG02895.hp1
HG02976.hp1
HG03130.hp1
NA19030.hp1
NA19043.hp1
 intron_variant MODIFIER c.1277-16960dupA
c.1277-16960dupA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68136291
chrX:68136291 C
C
 CTT
CTT
 13 a0001c0001t0002g0019
a0001c0001t0002g0108
a0001c0001t0002g0114
others(10): Show 
a0001c0001t0002g0019
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0131
a0001c0001t0004g0005
a0001c0001t0005g0152
a0001c0001t0009g0129
a0001c0001t0019g0003
 13 HG00735.hp2
HG01243.hp1
HG01255.hp1
others(10): Show 
HG00735.hp2
HG01243.hp1
HG01255.hp1
HG02109.hp2
HG02145.hp1
HG02630.hp2
HG02809.hp2
HG02922.hp1
HG02965.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
 intron_variant MODIFIER c.1277-16961_1277-16
others(8): Show 
c.1277-16961_1277-16960dupAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68136291
chrX:68136291 C
C
 CTTT
CTTT
 3 a0001c0001t0002g0014
a0001c0001t0002g0130
a0001c0001t0002g0135
a0001c0001t0002g0014
a0001c0001t0002g0130
a0001c0001t0002g0135
 3 HG03098.hp1
HG03139.hp1
NA18906.hp2
HG03098.hp1
HG03139.hp1
NA18906.hp2
 intron_variant MODIFIER c.1277-16962_1277-16
others(9): Show 
c.1277-16962_1277-16960dupAAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68136291
chrX:68136291 CT
CT
 C
C
 2 a0001c0001t0016g0119
a0001c0001t0022g0103
a0001c0001t0016g0119
a0001c0001t0022g0103
 2 HG01081.hp1
HG02683.hp1
HG01081.hp1
HG02683.hp1
 intron_variant MODIFIER c.1277-16960delA
c.1277-16960delA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68136291
chrX:68136291 CTTTTTTT
CTTTTTTT
 C
C
 61 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
others(58): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0154
a0001c0001t0002g0133
a0001c0001t0003g0065
a0001c0001t0011g0061
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0003t0010g0085
a0001c0003t0010g0089
a0004c0005t0012g0024
 61 HG00140.hp1
HG00609.hp1
HG00621.hp1
others(58): Show 
HG00140.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01169.hp2
HG01256.hp1
HG01346.hp1
HG01433.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG02015.hp1
HG02056.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02300.hp1
HG02602.hp1
HG02615.hp2
HG02683.hp2
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG03017.hp1
HG03490.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.1277-16966_1277-16
others(13): Show 
c.1277-16966_1277-16960delAAAAAAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68136291
chrX:68136291 CTTTTTTT
others(1): Show 
CTTTTTTTT
 C
C
 1 a0001c0001t0001g0025
a0001c0001t0001g0025
 1 HG01515.hp1
HG01515.hp1
 intron_variant MODIFIER c.1277-16967_1277-16
others(14): Show 
c.1277-16967_1277-16960delAAAAAAAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68136291
chrX:68136310 T
T
 TTG
TTG
 11 a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
others(8): Show 
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0008g0112
a0001c0001t0013g0042
a0002c0002t0001g0002
a0002c0002t0003g0001
 11 HG00099.hp2
HG01099.hp1
HG01106.hp1
others(8): Show 
HG00099.hp2
HG01099.hp1
HG01106.hp1
HG01192.hp1
HG01346.hp2
HG01358.hp1
HG02615.hp1
HG02818.hp2
HG03492.hp1
HG04199.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1277-16979_1277-16
others(8): Show 
c.1277-16979_1277-16978insCA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68136310
chrX:68136365 G
G
 A
A
 1 a0001c0001t0001g0016
a0001c0001t0001g0016
 1 HG01256.hp1
HG01256.hp1
 intron_variant MODIFIER c.1277-17033C>T
c.1277-17033C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68136365
chrX:68136594 C
C
 T
T
 53 a0001c0001t0001g0015
a0001c0001t0001g0040
a0001c0001t0001g0059
others(50): Show 
a0001c0001t0001g0015
a0001c0001t0001g0040
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0008g0096
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0027g0072
a0001c0001t0030g0155
a0003c0004t0014g0102
 53 HG00099.hp1
HG00280.hp1
HG00673.hp1
others(50): Show 
HG00099.hp1
HG00280.hp1
HG00673.hp1
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01258.hp1
HG01261.hp1
HG01891.hp2
HG01943.hp1
HG01952.hp1
HG02027.hp1
HG02055.hp1
HG02071.hp1
HG02074.hp1
HG02109.hp1
HG02132.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp2
HG02976.hp1
HG03209.hp1
HG03471.hp1
HG03516.hp1
HG03540.hp2
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18948.hp1
NA18965.hp1
NA18983.hp1
NA18986.hp1
NA19004.hp1
NA19012.hp1
NA19030.hp2
 intron_variant MODIFIER c.1277-17262G>A
c.1277-17262G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68136594
chrX:68137678 A
A
 C
C
 7 a0001c0001t0002g0021
a0001c0001t0003g0139
a0001c0001t0005g0110
others(4): Show 
a0001c0001t0002g0021
a0001c0001t0003g0139
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0008g0096
 7 HG02257.hp1
HG02257.hp2
HG02258.hp1
others(4): Show 
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02717.hp1
HG02818.hp1
HG02976.hp1
HG03540.hp2
 intron_variant MODIFIER c.1277-18346T>G
c.1277-18346T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68137678
chrX:68137824 T
T
 C
C
 1 a0001c0001t0003g0113
a0001c0001t0003g0113
 1 HG02723.hp2
HG02723.hp2
 intron_variant MODIFIER c.1277-18492A>G
c.1277-18492A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68137824
chrX:68137923 C
C
 T
T
 17 a0001c0001t0002g0021
a0001c0001t0002g0134
a0001c0001t0003g0018
others(14): Show 
a0001c0001t0002g0021
a0001c0001t0002g0134
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0139
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0008g0096
a0001c0001t0030g0155
 17 HG02257.hp1
HG02257.hp2
HG02258.hp1
others(14): Show 
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02647.hp1
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp2
HG02976.hp1
HG03540.hp2
 intron_variant MODIFIER c.1277-18591G>A
c.1277-18591G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68137923
chrX:68138364 T
T
 C
C
 1 a0001c0001t0001g0043
a0001c0001t0001g0043
 1 NA18747.hp1
NA18747.hp1
 intron_variant MODIFIER c.1277-19032A>G
c.1277-19032A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68138364
chrX:68138366 T
T
 C
C
 66 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
others(63): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0154
a0001c0001t0002g0133
a0001c0001t0003g0065
a0001c0001t0011g0061
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0004c0005t0012g0024
 66 HG00140.hp1
HG00609.hp1
HG00621.hp1
others(63): Show 
HG00140.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01169.hp2
HG01256.hp1
HG01346.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG02015.hp1
HG02056.hp1
HG02071.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02300.hp1
HG02602.hp1
HG02615.hp2
HG02683.hp2
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG03017.hp1
HG03490.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.1277-19034A>G
c.1277-19034A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68138366
chrX:68138916 A
A
 C
C
 66 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
others(63): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0154
a0001c0001t0002g0133
a0001c0001t0003g0065
a0001c0001t0011g0061
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0004c0005t0012g0024
 66 HG00140.hp1
HG00609.hp1
HG00621.hp1
others(63): Show 
HG00140.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01169.hp2
HG01256.hp1
HG01346.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG02015.hp1
HG02056.hp1
HG02071.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02300.hp1
HG02602.hp1
HG02615.hp2
HG02683.hp2
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG03017.hp1
HG03490.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.1277-19584T>G
c.1277-19584T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68138916
chrX:68139483 A
A
 G
G
 15 a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
others(12): Show 
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0004g0005
a0001c0001t0005g0152
a0001c0001t0019g0003
 15 HG00735.hp2
HG01255.hp1
HG02109.hp2
others(12): Show 
HG00735.hp2
HG01255.hp1
HG02109.hp2
HG02145.hp1
HG02630.hp2
HG02809.hp2
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.1277-20151T>C
c.1277-20151T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68139483
chrX:68139871 A
A
 G
G
 1 a0001c0001t0006g0013
a0001c0001t0006g0013
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.1277-20539T>C
c.1277-20539T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68139871
chrX:68140064 A
A
 G
G
 2 a0001c0001t0016g0119
a0001c0001t0022g0103
a0001c0001t0016g0119
a0001c0001t0022g0103
 2 HG01081.hp1
HG02683.hp1
HG01081.hp1
HG02683.hp1
 intron_variant MODIFIER c.1277-20732T>C
c.1277-20732T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68140064
chrX:68140313 T
T
 C
C
 1 a0001c0001t0023g0037
a0001c0001t0023g0037
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.1277-20981A>G
c.1277-20981A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68140313
chrX:68140529 G
G
 T
T
 2 a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0054
a0001c0001t0002g0055
 2 NA18983.hp1
NA18986.hp1
NA18983.hp1
NA18986.hp1
 intron_variant MODIFIER c.1277-21197C>A
c.1277-21197C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68140529
chrX:68140586 C
C
 T
T
 6 a0001c0001t0003g0122
a0001c0001t0007g0023
a0001c0001t0007g0032
others(3): Show 
a0001c0001t0003g0122
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0009g0128
a0001c0001t0009g0129
 6 HG01243.hp1
HG02451.hp1
HG02559.hp1
others(3): Show 
HG01243.hp1
HG02451.hp1
HG02559.hp1
HG03130.hp1
NA19030.hp1
NA19043.hp1
 intron_variant MODIFIER c.1277-21254G>A
c.1277-21254G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68140586
chrX:68140765 A
A
 G
G
 1 a0001c0001t0005g0152
a0001c0001t0005g0152
 1 HG02630.hp2
HG02630.hp2
 intron_variant MODIFIER c.1277-21433T>C
c.1277-21433T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68140765
chrX:68141295 TAAGTAAA
others(5): Show 
TAAGTAAAAAGTA
 T
T
 150 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(147): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 150 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(147): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03017.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1277-21975_1277-21
others(18): Show 
c.1277-21975_1277-21964delTACTTTTTACTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68141295
chrX:68141308 A
A
 C
C
 150 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(147): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 150 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(147): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03017.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1277-21976T>G
c.1277-21976T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68141308
chrX:68141593 C
C
 G
G
 3 a0001c0001t0001g0017
a0001c0001t0001g0070
a0001c0001t0001g0086
a0001c0001t0001g0017
a0001c0001t0001g0070
a0001c0001t0001g0086
 3 NA18971.hp1
NA19056.hp1
NA19060.hp1
NA18971.hp1
NA19056.hp1
NA19060.hp1
 intron_variant MODIFIER c.1277-22261G>C
c.1277-22261G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68141593
chrX:68141603 T
T
 G
G
 5 a0001c0001t0003g0151
a0001c0001t0004g0094
a0001c0001t0004g0095
others(2): Show 
a0001c0001t0003g0151
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0007g0022
 5 HG01891.hp2
HG03209.hp1
HG03516.hp1
others(2): Show 
HG01891.hp2
HG03209.hp1
HG03516.hp1
NA18522.hp1
NA19030.hp2
 intron_variant MODIFIER c.1277-22271A>C
c.1277-22271A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68141603
chrX:68141903 TTAAA
TTAAA
 T
T
 1 a0001c0001t0004g0012
a0001c0001t0004g0012
 1 HG02922.hp2
HG02922.hp2
 intron_variant MODIFIER c.1277-22575_1277-22
others(10): Show 
c.1277-22575_1277-22572delTTTA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68141903
chrX:68141904 T
T
 G
G
 1 a0001c0001t0004g0011
a0001c0001t0004g0011
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.1277-22572A>C
c.1277-22572A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68141904
chrX:68141904 T
T
 TAAAG
TAAAG
 1 a0001c0001t0002g0057
a0001c0001t0002g0057
 1 NA19012.hp1
NA19012.hp1
 intron_variant MODIFIER c.1277-22576_1277-22
others(10): Show 
c.1277-22576_1277-22573dupCTTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68141904
chrX:68141904 TAAAG
TAAAG
 T
T
 11 a0001c0001t0002g0006
a0001c0001t0003g0076
a0001c0001t0004g0010
others(8): Show 
a0001c0001t0002g0006
a0001c0001t0003g0076
a0001c0001t0004g0010
a0001c0001t0004g0034
a0001c0001t0015g0148
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0027g0072
a0002c0002t0003g0001
a0003c0004t0014g0102
 11 HG00099.hp1
HG00738.hp1
HG01081.hp1
others(8): Show 
HG00099.hp1
HG00738.hp1
HG01081.hp1
HG01192.hp1
HG01943.hp1
HG02055.hp1
HG02074.hp1
HG02451.hp2
HG02809.hp2
HG02886.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1277-22576_1277-22
others(10): Show 
c.1277-22576_1277-22573delCTTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68141904
chrX:68141904 TAAAGAAA
others(1): Show 
TAAAGAAAG
 T
T
 33 a0001c0001t0001g0040
a0001c0001t0001g0068
a0001c0001t0001g0073
others(30): Show 
a0001c0001t0001g0040
a0001c0001t0001g0068
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0145
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0123
a0001c0001t0002g0126
a0001c0001t0002g0134
a0001c0001t0003g0035
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0111
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0006g0013
a0001c0001t0006g0106
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0016g0119
a0002c0002t0001g0002
 33 HG00099.hp2
HG01099.hp1
HG01106.hp1
others(30): Show 
HG00099.hp2
HG01099.hp1
HG01106.hp1
HG01258.hp1
HG01358.hp1
HG02027.hp1
HG02109.hp2
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02630.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02818.hp1
HG02976.hp1
HG02976.hp2
HG03225.hp1
HG03492.hp1
HG03540.hp2
NA18944.hp1
NA18948.hp1
NA18965.hp1
NA18983.hp1
NA18986.hp1
NA19030.hp1
NA19043.hp1
NA19066.hp1
NA19068.hp1
 intron_variant MODIFIER c.1277-22580_1277-22
others(14): Show 
c.1277-22580_1277-22573delCTTTCTTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68141904
chrX:68141904 TAAAGAAA
others(5): Show 
TAAAGAAAGAAAG
 T
T
 27 a0001c0001t0001g0044
a0001c0001t0001g0052
a0001c0001t0001g0059
others(24): Show 
a0001c0001t0001g0044
a0001c0001t0001g0052
a0001c0001t0001g0059
a0001c0001t0001g0066
a0001c0001t0001g0077
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0063
a0001c0001t0003g0113
a0001c0001t0003g0151
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0152
a0001c0001t0007g0032
a0001c0001t0013g0042
a0001c0001t0018g0104
a0001c0001t0021g0150
 27 HG00280.hp1
HG01255.hp1
HG01261.hp1
others(24): Show 
HG00280.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp2
HG01891.hp2
HG02071.hp1
HG02132.hp1
HG02135.hp1
HG02630.hp2
HG02723.hp2
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03471.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03942.hp1
HG04199.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp2
NA18990.hp1
 intron_variant MODIFIER c.1277-22584_1277-22
others(18): Show 
c.1277-22584_1277-22573delCTTTCTTTCTTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68141904
chrX:68141904 TAAAGAAA
others(9): Show 
TAAAGAAAGAAAGAAAG
 T
T
 24 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0041
others(21): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0078
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0149
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0028g0084
a0001c0001t0029g0031
 24 HG00621.hp1
HG00642.hp1
HG00735.hp1
others(21): Show 
HG00621.hp1
HG00642.hp1
HG00735.hp1
HG01243.hp1
HG01433.hp1
HG02056.hp1
HG02451.hp1
HG02698.hp1
HG03710.hp1
NA18747.hp1
NA18943.hp1
NA18960.hp1
NA18962.hp1
NA18974.hp1
NA18994.hp1
NA19000.hp1
NA19007.hp1
NA19056.hp1
NA19060.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.1277-22588_1277-22
others(22): Show 
c.1277-22588_1277-22573delCTTTCTTTCTTTCTTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68141904
chrX:68141904 TAAAGAAA
others(13): Show 
TAAAGAAAGAAAGAAAGAAAG
 T
T
 36 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
others(33): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0075
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0154
a0001c0001t0002g0133
a0001c0001t0003g0065
a0001c0001t0011g0061
a0001c0001t0023g0037
a0001c0003t0010g0085
a0001c0003t0010g0089
a0004c0005t0012g0024
 36 HG00140.hp1
HG00609.hp1
HG01069.hp1
others(33): Show 
HG00140.hp1
HG00609.hp1
HG01069.hp1
HG01074.hp1
HG01169.hp2
HG01256.hp1
HG01346.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG02015.hp1
HG02083.hp1
HG02129.hp1
HG02300.hp1
HG02602.hp1
HG02615.hp2
HG02683.hp2
HG02735.hp1
HG02738.hp1
HG03017.hp1
HG03490.hp1
HG03688.hp1
HG04115.hp1
NA18945.hp1
NA18952.hp1
NA18955.hp1
NA18966.hp1
NA18971.hp1
NA18977.hp1
NA18982.hp1
NA18988.hp1
NA18995.hp1
NA19005.hp1
NA19009.hp1
NA20752.hp1
 intron_variant MODIFIER c.1277-22592_1277-22
others(26): Show 
c.1277-22592_1277-22573delCTTTCTTTCTTTCTTTCTTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68141904
chrX:68141904 TAAAGAAA
others(17): Show 
TAAAGAAAGAAAGAAAGAAAGAAAG
 T
T
 3 a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
 3 HG01167.hp1
HG01169.hp1
NA19030.hp2
HG01167.hp1
HG01169.hp1
NA19030.hp2
 intron_variant MODIFIER c.1277-22596_1277-22
others(30): Show 
c.1277-22596_1277-22573delCTTTCTTTCTTTCTTTCTTTCTTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68141904
chrX:68141904 TAAAGAAA
others(21): Show 
TAAAGAAAGAAAGAAAGAAAGAAAGAAAG
 T
T
 1 a0001c0001t0003g0109
a0001c0001t0003g0109
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.1277-22600_1277-22
others(34): Show 
c.1277-22600_1277-22573delCTTTCTTTCTTTCTTTCTTTCTTT
CTTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68141904
chrX:68141960 G
G
 T
T
 2 a0001c0001t0004g0005
a0001c0001t0019g0003
a0001c0001t0004g0005
a0001c0001t0019g0003
 2 HG00735.hp2
HG02809.hp2
HG00735.hp2
HG02809.hp2
 intron_variant MODIFIER c.1277-22628C>A
c.1277-22628C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68141960
chrX:68141981 C
C
 T
T
 1 a0001c0001t0001g0088
a0001c0001t0001g0088
 1 HG02056.hp1
HG02056.hp1
 intron_variant MODIFIER c.1277-22649G>A
c.1277-22649G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68141981
chrX:68142258 G
G
 A
A
 53 a0001c0001t0001g0015
a0001c0001t0001g0040
a0001c0001t0001g0059
others(50): Show 
a0001c0001t0001g0015
a0001c0001t0001g0040
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0097
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0008g0096
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0027g0072
a0001c0001t0030g0155
a0003c0004t0014g0102
 53 HG00099.hp1
HG00280.hp1
HG00673.hp1
others(50): Show 
HG00099.hp1
HG00280.hp1
HG00673.hp1
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01258.hp1
HG01261.hp1
HG01891.hp2
HG01943.hp1
HG01952.hp1
HG02027.hp1
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02132.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp2
HG02976.hp1
HG03209.hp1
HG03471.hp1
HG03516.hp1
HG03540.hp2
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18948.hp1
NA18965.hp1
NA18970.hp1
NA18983.hp1
NA18986.hp1
NA19004.hp1
NA19012.hp1
NA19030.hp2
 intron_variant MODIFIER c.1277-22926C>T
c.1277-22926C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68142258
chrX:68142421 G
G
 A
A
 3 a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0021g0150
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0021g0150
 3 HG01081.hp2
HG02055.hp1
HG03471.hp1
HG01081.hp2
HG02055.hp1
HG03471.hp1
 intron_variant MODIFIER c.1277-23089C>T
c.1277-23089C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68142421
chrX:68142802 C
C
 T
T
 1 a0001c0001t0001g0145
a0001c0001t0001g0145
 1 NA18944.hp1
NA18944.hp1
 intron_variant MODIFIER c.1277-23470G>A
c.1277-23470G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68142802
chrX:68143438 C
C
 A
A
 1 a0001c0001t0004g0010
a0001c0001t0004g0010
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.1277-24106G>T
c.1277-24106G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68143438
chrX:68143569 G
G
 A
A
 20 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0045
others(17): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0045
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0070
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0145
a0001c0001t0001g0154
a0001c0001t0023g0037
a0001c0001t0025g0087
 20 HG00609.hp1
HG01256.hp1
HG02056.hp1
others(17): Show 
HG00609.hp1
HG01256.hp1
HG02056.hp1
HG02129.hp1
HG02135.hp1
HG02738.hp1
HG03017.hp1
HG04115.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18952.hp1
NA18971.hp1
NA18990.hp1
NA19005.hp1
NA19009.hp1
NA19056.hp1
NA19060.hp1
NA19085.hp1
NA19088.hp1
 intron_variant MODIFIER c.1277-24237C>T
c.1277-24237C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68143569
chrX:68143663 A
A
 G
G
 1 a0001c0001t0003g0065
a0001c0001t0003g0065
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.1277-24331T>C
c.1277-24331T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68143663
chrX:68143959 A
A
 G
G
 57 a0001c0001t0001g0015
a0001c0001t0001g0040
a0001c0001t0001g0043
others(54): Show 
a0001c0001t0001g0015
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0097
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0008g0096
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0003c0004t0014g0102
 57 HG00099.hp1
HG00280.hp1
HG00673.hp1
others(54): Show 
HG00099.hp1
HG00280.hp1
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01258.hp1
HG01261.hp1
HG01891.hp2
HG01943.hp1
HG01952.hp1
HG02027.hp1
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02132.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp2
HG02976.hp1
HG03209.hp1
HG03471.hp1
HG03516.hp1
HG03540.hp2
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18948.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18983.hp1
NA18986.hp1
NA19004.hp1
NA19012.hp1
NA19030.hp2
NA19070.hp1
 intron_variant MODIFIER c.1277-24627T>C
c.1277-24627T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68143959
chrX:68143988 G
G
 A
A
 1 a0001c0001t0020g0099
a0001c0001t0020g0099
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.1277-24656C>T
c.1277-24656C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68143988
chrX:68144124 C
C
 T
T
 1 a0001c0001t0008g0112
a0001c0001t0008g0112
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.1277-24792G>A
c.1277-24792G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68144124
chrX:68144220 G
G
 A
A
 17 a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
others(14): Show 
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0122
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0013g0042
a0002c0002t0001g0002
a0002c0002t0003g0001
 17 HG00099.hp2
HG01099.hp1
HG01106.hp1
others(14): Show 
HG00099.hp2
HG01099.hp1
HG01106.hp1
HG01192.hp1
HG01243.hp1
HG01346.hp2
HG01358.hp1
HG02451.hp1
HG02559.hp1
HG02615.hp1
HG02818.hp2
HG03130.hp1
HG03492.hp1
HG04199.hp1
NA19030.hp1
NA19043.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1277-24888C>T
c.1277-24888C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68144220
chrX:68144461 G
G
 A
A
 57 a0001c0001t0001g0015
a0001c0001t0001g0040
a0001c0001t0001g0043
others(54): Show 
a0001c0001t0001g0015
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0097
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0008g0096
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0003c0004t0014g0102
 57 HG00099.hp1
HG00280.hp1
HG00673.hp1
others(54): Show 
HG00099.hp1
HG00280.hp1
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01258.hp1
HG01261.hp1
HG01891.hp2
HG01943.hp1
HG01952.hp1
HG02027.hp1
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02132.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp2
HG02976.hp1
HG03209.hp1
HG03471.hp1
HG03516.hp1
HG03540.hp2
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18948.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18983.hp1
NA18986.hp1
NA19004.hp1
NA19012.hp1
NA19030.hp2
NA19070.hp1
 intron_variant MODIFIER c.1277-25129C>T
c.1277-25129C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68144461
chrX:68145273 T
T
 C
C
 58 a0001c0001t0001g0015
a0001c0001t0001g0040
a0001c0001t0001g0043
others(55): Show 
a0001c0001t0001g0015
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0097
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0008g0096
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0003c0004t0014g0102
 58 HG00099.hp1
HG00280.hp1
HG00673.hp1
others(55): Show 
HG00099.hp1
HG00280.hp1
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01258.hp1
HG01261.hp1
HG01891.hp2
HG01943.hp1
HG01952.hp1
HG02027.hp1
HG02055.hp1
HG02071.hp1
HG02074.hp1
HG02109.hp1
HG02132.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp2
HG02976.hp1
HG03209.hp1
HG03471.hp1
HG03516.hp1
HG03540.hp2
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18948.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18983.hp1
NA18986.hp1
NA19004.hp1
NA19012.hp1
NA19030.hp2
NA19070.hp1
 intron_variant MODIFIER c.1277-25941A>G
c.1277-25941A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68145273
chrX:68145330 T
T
 C
C
 6 a0001c0001t0003g0122
a0001c0001t0007g0023
a0001c0001t0007g0032
others(3): Show 
a0001c0001t0003g0122
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0009g0128
a0001c0001t0009g0129
 6 HG01243.hp1
HG02451.hp1
HG02559.hp1
others(3): Show 
HG01243.hp1
HG02451.hp1
HG02559.hp1
HG03130.hp1
NA19030.hp1
NA19043.hp1
 intron_variant MODIFIER c.1277-25998A>G
c.1277-25998A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68145330
chrX:68145422 G
G
 A
A
 1 a0001c0001t0023g0037
a0001c0001t0023g0037
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.1277-26090C>T
c.1277-26090C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68145422
chrX:68145726 AT
AT
 A
A
 1 a0001c0001t0001g0044
a0001c0001t0001g0044
 1 HG03942.hp1
HG03942.hp1
 intron_variant MODIFIER c.1277-26395delA
c.1277-26395delA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68145726
chrX:68145728 T
T
 G
G
 1 a0001c0001t0004g0004
a0001c0001t0004g0004
 1 HG02109.hp1
HG02109.hp1
 intron_variant MODIFIER c.1277-26396A>C
c.1277-26396A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68145728
chrX:68145896 AC
AC
 A
A
 2 a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0011
a0001c0001t0004g0012
 2 HG02280.hp2
HG02922.hp2
HG02280.hp2
HG02922.hp2
 intron_variant MODIFIER c.1277-26565delG
c.1277-26565delG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68145896
chrX:68145945 G
G
 T
T
 1 a0001c0001t0002g0057
a0001c0001t0002g0057
 1 NA19012.hp1
NA19012.hp1
 intron_variant MODIFIER c.1277-26613C>A
c.1277-26613C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68145945
chrX:68146092 G
G
 A
A
 1 a0001c0001t0001g0028
a0001c0001t0001g0028
 1 HG02083.hp1
HG02083.hp1
 intron_variant MODIFIER c.1277-26760C>T
c.1277-26760C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68146092
chrX:68146163 G
G
 A
A
 1 a0001c0001t0001g0141
a0001c0001t0001g0141
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.1277-26831C>T
c.1277-26831C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68146163
chrX:68146554 T
T
 A
A
 1 a0001c0001t0001g0052
a0001c0001t0001g0052
 1 HG02135.hp1
HG02135.hp1
 intron_variant MODIFIER c.1277-27222A>T
c.1277-27222A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68146554
chrX:68146676 G
G
 T
T
 6 a0001c0001t0003g0035
a0001c0001t0003g0076
a0001c0001t0003g0100
others(3): Show 
a0001c0001t0003g0035
a0001c0001t0003g0076
a0001c0001t0003g0100
a0001c0001t0013g0042
a0002c0002t0001g0002
a0002c0002t0003g0001
 6 HG01099.hp1
HG01106.hp1
HG01192.hp1
others(3): Show 
HG01099.hp1
HG01106.hp1
HG01192.hp1
HG01346.hp2
HG01358.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1277-27344C>A
c.1277-27344C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68146676
chrX:68146735 A
A
 G
G
 1 a0001c0001t0003g0109
a0001c0001t0003g0109
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.1277-27403T>C
c.1277-27403T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68146735
chrX:68146813 T
T
 C
C
 1 a0001c0001t0001g0077
a0001c0001t0001g0077
 1 HG02071.hp1
HG02071.hp1
 intron_variant MODIFIER c.1277-27481A>G
c.1277-27481A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68146813
chrX:68146817 TGTGTGTC
others(19): Show 
TGTGTGTCTGTGTGTGTACACAAAGGC
 T
T
 57 a0001c0001t0001g0015
a0001c0001t0001g0040
a0001c0001t0001g0043
others(54): Show 
a0001c0001t0001g0015
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0097
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0008g0096
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0003c0004t0014g0102
 57 HG00099.hp1
HG00280.hp1
HG00673.hp1
others(54): Show 
HG00099.hp1
HG00280.hp1
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01258.hp1
HG01261.hp1
HG01891.hp2
HG01943.hp1
HG01952.hp1
HG02027.hp1
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02132.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp2
HG02976.hp1
HG03209.hp1
HG03471.hp1
HG03516.hp1
HG03540.hp2
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18948.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18983.hp1
NA18986.hp1
NA19004.hp1
NA19012.hp1
NA19030.hp2
NA19070.hp1
 intron_variant MODIFIER c.1277-27511_1277-27
others(32): Show 
c.1277-27511_1277-27486delGCCTTTGTGTACACACACAGACAC
AC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68146817
chrX:68147545 G
G
 T
T
 1 a0001c0001t0020g0099
a0001c0001t0020g0099
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.1277-28213C>A
c.1277-28213C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68147545
chrX:68148029 T
T
 A
A
 17 a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
others(14): Show 
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0122
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0013g0042
a0002c0002t0001g0002
a0002c0002t0003g0001
 17 HG00099.hp2
HG01099.hp1
HG01106.hp1
others(14): Show 
HG00099.hp2
HG01099.hp1
HG01106.hp1
HG01192.hp1
HG01243.hp1
HG01346.hp2
HG01358.hp1
HG02451.hp1
HG02559.hp1
HG02615.hp1
HG02818.hp2
HG03130.hp1
HG03492.hp1
HG04199.hp1
NA19030.hp1
NA19043.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1277-28697A>T
c.1277-28697A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68148029
chrX:68148136 A
A
 T
T
 1 a0001c0001t0019g0003
a0001c0001t0019g0003
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.1277-28804T>A
c.1277-28804T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68148136
chrX:68148385 G
G
 A
A
 1 a0001c0001t0001g0066
a0001c0001t0001g0066
 1 NA18990.hp1
NA18990.hp1
 intron_variant MODIFIER c.1277-29053C>T
c.1277-29053C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68148385
chrX:68148419 C
C
 T
T
 18 a0001c0001t0001g0015
a0001c0001t0001g0040
a0001c0001t0001g0059
others(15): Show 
a0001c0001t0001g0015
a0001c0001t0001g0040
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0144
a0001c0001t0015g0148
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0027g0072
 18 HG00099.hp1
HG00280.hp1
HG00673.hp1
others(15): Show 
HG00099.hp1
HG00280.hp1
HG00673.hp1
HG01258.hp1
HG01261.hp1
HG01943.hp1
HG01952.hp1
HG02027.hp1
HG02074.hp1
HG02132.hp1
HG04228.hp1
NA18612.hp1
NA18948.hp1
NA18965.hp1
NA18983.hp1
NA18986.hp1
NA19004.hp1
NA19012.hp1
 intron_variant MODIFIER c.1277-29087G>A
c.1277-29087G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68148419
chrX:68148527 A
A
 T
T
 66 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
others(63): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0154
a0001c0001t0002g0133
a0001c0001t0003g0065
a0001c0001t0011g0061
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0004c0005t0012g0024
 66 HG00140.hp1
HG00609.hp1
HG00621.hp1
others(63): Show 
HG00140.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01169.hp2
HG01256.hp1
HG01346.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG02015.hp1
HG02056.hp1
HG02071.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02300.hp1
HG02602.hp1
HG02615.hp2
HG02683.hp2
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG03017.hp1
HG03490.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.1277-29195T>A
c.1277-29195T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68148527
chrX:68148834 A
A
 G
G
 1 a0001c0001t0001g0015
a0001c0001t0001g0015
 1 NA19004.hp1
NA19004.hp1
 intron_variant MODIFIER c.1277-29502T>C
c.1277-29502T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68148834
chrX:68148999 C
C
 A
A
 1 a0001c0001t0001g0141
a0001c0001t0001g0141
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.1277-29667G>T
c.1277-29667G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68148999
chrX:68149200 T
T
 A
A
 66 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
others(63): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0154
a0001c0001t0002g0133
a0001c0001t0003g0065
a0001c0001t0011g0061
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0004c0005t0012g0024
 66 HG00140.hp1
HG00609.hp1
HG00621.hp1
others(63): Show 
HG00140.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01169.hp2
HG01256.hp1
HG01346.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG02015.hp1
HG02056.hp1
HG02071.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02300.hp1
HG02602.hp1
HG02615.hp2
HG02683.hp2
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG03017.hp1
HG03490.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.1277-29868A>T
c.1277-29868A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68149200
chrX:68149277 A
A
 G
G
 1 a0001c0001t0003g0018
a0001c0001t0003g0018
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.1277-29945T>C
c.1277-29945T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68149277
chrX:68149802 C
C
 CA
CA
 10 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0029
others(7): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0029
a0001c0001t0001g0045
a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0001t0001g0070
a0001c0001t0001g0078
a0001c0001t0001g0086
a0001c0001t0001g0154
 10 HG01256.hp1
HG02129.hp1
NA18971.hp1
others(7): Show 
HG01256.hp1
HG02129.hp1
NA18971.hp1
NA18988.hp1
NA19005.hp1
NA19009.hp1
NA19056.hp1
NA19060.hp1
NA19085.hp1
NA19088.hp1
 intron_variant MODIFIER c.1277-30471dupT
c.1277-30471dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68149802
chrX:68149802 CA
CA
 C
C
 11 a0001c0001t0002g0021
a0001c0001t0003g0018
a0001c0001t0003g0020
others(8): Show 
a0001c0001t0002g0021
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0139
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0008g0096
a0001c0001t0030g0155
 11 HG02257.hp1
HG02257.hp2
HG02258.hp1
others(8): Show 
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02486.hp1
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02895.hp1
HG02976.hp1
HG03540.hp2
 intron_variant MODIFIER c.1277-30471delT
c.1277-30471delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68149802
chrX:68149994 C
C
 A
A
 2 a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0054
a0001c0001t0002g0055
 2 NA18983.hp1
NA18986.hp1
NA18983.hp1
NA18986.hp1
 intron_variant MODIFIER c.1277-30662G>T
c.1277-30662G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68149994
chrX:68150398 C
C
 T
T
 1 a0001c0001t0003g0139
a0001c0001t0003g0139
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.1277-31066G>A
c.1277-31066G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68150398
chrX:68150400 G
G
 A
A
 3 a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
 3 HG02280.hp2
HG02451.hp2
HG02922.hp2
HG02280.hp2
HG02451.hp2
HG02922.hp2
 intron_variant MODIFIER c.1277-31068C>T
c.1277-31068C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68150400
chrX:68150421 CATA
CATA
 C
C
 1 a0001c0001t0003g0113
a0001c0001t0003g0113
 1 HG02723.hp2
HG02723.hp2
 intron_variant MODIFIER c.1277-31092_1277-31
others(9): Show 
c.1277-31092_1277-31090delTAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68150421
chrX:68150429 T
T
 G
G
 1 a0001c0001t0004g0005
a0001c0001t0004g0005
 1 HG00735.hp2
HG00735.hp2
 intron_variant MODIFIER c.1277-31097A>C
c.1277-31097A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68150429
chrX:68150526 TACATCTG
others(1): Show 
TACATCTGA
 T
T
 1 a0001c0001t0026g0056
a0001c0001t0026g0056
 1 NA20905.hp1
NA20905.hp1
 intron_variant MODIFIER c.1277-31202_1277-31
others(14): Show 
c.1277-31202_1277-31195delTCAGATGT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68150526
chrX:68150608 C
C
 T
T
 2 a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0006g0120
a0001c0001t0006g0121
 2 HG01167.hp1
HG01169.hp1
HG01167.hp1
HG01169.hp1
 intron_variant MODIFIER c.1277-31276G>A
c.1277-31276G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68150608
chrX:68150676 A
A
 G
G
 5 a0001c0001t0004g0004
a0001c0001t0004g0026
a0001c0001t0004g0030
others(2): Show 
a0001c0001t0004g0004
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0021g0150
 5 HG01081.hp2
HG02055.hp1
HG02109.hp1
others(2): Show 
HG01081.hp2
HG02055.hp1
HG02109.hp1
HG03471.hp1
NA18906.hp1
 intron_variant MODIFIER c.1277-31344T>C
c.1277-31344T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68150676
chrX:68150799 G
G
 C
C
 14 a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
others(11): Show 
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0004g0005
a0001c0001t0005g0152
 14 HG00735.hp2
HG01255.hp1
HG02109.hp2
others(11): Show 
HG00735.hp2
HG01255.hp1
HG02109.hp2
HG02145.hp1
HG02630.hp2
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.1277-31467C>G
c.1277-31467C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68150799
chrX:68150925 T
T
 G
G
 1 a0001c0001t0001g0071
a0001c0001t0001g0071
 1 HG00642.hp1
HG00642.hp1
 intron_variant MODIFIER c.1277-31593A>C
c.1277-31593A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68150925
chrX:68151120 G
G
 C
C
 151 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(148): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 151 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(148): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03017.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1277-31788C>G
c.1277-31788C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68151120
chrX:68151635 C
C
 T
T
 17 a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
others(14): Show 
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0122
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0013g0042
a0002c0002t0001g0002
a0002c0002t0003g0001
 17 HG00099.hp2
HG01099.hp1
HG01106.hp1
others(14): Show 
HG00099.hp2
HG01099.hp1
HG01106.hp1
HG01192.hp1
HG01243.hp1
HG01346.hp2
HG01358.hp1
HG02451.hp1
HG02559.hp1
HG02615.hp1
HG02818.hp2
HG03130.hp1
HG03492.hp1
HG04199.hp1
NA19030.hp1
NA19043.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1277-32303G>A
c.1277-32303G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68151635
chrX:68151960 G
G
 A
A
 66 a0001c0001t0001g0015
a0001c0001t0001g0040
a0001c0001t0001g0059
others(63): Show 
a0001c0001t0001g0015
a0001c0001t0001g0040
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0008g0096
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0027g0072
a0001c0001t0030g0155
a0003c0004t0014g0102
 66 HG00099.hp1
HG00280.hp1
HG00673.hp1
others(63): Show 
HG00099.hp1
HG00280.hp1
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01255.hp1
HG01258.hp1
HG01261.hp1
HG01891.hp2
HG01943.hp1
HG01952.hp1
HG02027.hp1
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03098.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18948.hp1
NA18965.hp1
NA18983.hp1
NA18986.hp1
NA19004.hp1
NA19012.hp1
NA19030.hp2
 intron_variant MODIFIER c.1277-32628C>T
c.1277-32628C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68151960
chrX:68152013 C
C
 A
A
 2 a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0011
a0001c0001t0004g0012
 2 HG02280.hp2
HG02922.hp2
HG02280.hp2
HG02922.hp2
 intron_variant MODIFIER c.1277-32681G>T
c.1277-32681G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68152013
chrX:68152454 C
C
 CT
CT
 22 a0001c0001t0002g0021
a0001c0001t0002g0134
a0001c0001t0003g0018
others(19): Show 
a0001c0001t0002g0021
a0001c0001t0002g0134
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0139
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0008g0096
a0001c0001t0021g0150
a0001c0001t0030g0155
 22 HG00735.hp2
HG01081.hp2
HG02055.hp1
others(19): Show 
HG00735.hp2
HG01081.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02647.hp1
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp2
HG02976.hp1
HG03471.hp1
HG03540.hp2
NA18906.hp1
 intron_variant MODIFIER c.1277-33123dupA
c.1277-33123dupA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68152454
chrX:68152454 CT
CT
 C
C
 1 a0001c0001t0019g0003
a0001c0001t0019g0003
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.1277-33123delA
c.1277-33123delA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68152454
chrX:68152731 C
C
 T
T
 1 a0001c0001t0003g0122
a0001c0001t0003g0122
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.1277-33399G>A
c.1277-33399G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68152731
chrX:68152732 C
C
 A
A
 67 a0001c0001t0001g0015
a0001c0001t0001g0040
a0001c0001t0001g0059
others(64): Show 
a0001c0001t0001g0015
a0001c0001t0001g0040
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0008g0096
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0027g0072
a0001c0001t0030g0155
a0003c0004t0014g0102
 67 HG00099.hp1
HG00280.hp1
HG00673.hp1
others(64): Show 
HG00099.hp1
HG00280.hp1
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01255.hp1
HG01258.hp1
HG01261.hp1
HG01891.hp2
HG01943.hp1
HG01952.hp1
HG02027.hp1
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03098.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18948.hp1
NA18965.hp1
NA18983.hp1
NA18986.hp1
NA19004.hp1
NA19012.hp1
NA19030.hp2
 intron_variant MODIFIER c.1277-33400G>T
c.1277-33400G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68152732
chrX:68153210 C
C
 CA
CA
 3 a0001c0001t0001g0098
a0001c0001t0001g0147
a0001c0001t0003g0122
a0001c0001t0001g0098
a0001c0001t0001g0147
a0001c0001t0003g0122
 3 HG01934.hp1
NA18955.hp1
NA19043.hp1
HG01934.hp1
NA18955.hp1
NA19043.hp1
 intron_variant MODIFIER c.1277-33879dupT
c.1277-33879dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68153210
chrX:68153210 CA
CA
 C
C
 67 a0001c0001t0001g0015
a0001c0001t0001g0040
a0001c0001t0001g0059
others(64): Show 
a0001c0001t0001g0015
a0001c0001t0001g0040
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0008g0096
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0027g0072
a0001c0001t0030g0155
a0003c0004t0014g0102
 67 HG00099.hp1
HG00280.hp1
HG00673.hp1
others(64): Show 
HG00099.hp1
HG00280.hp1
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01255.hp1
HG01258.hp1
HG01261.hp1
HG01891.hp2
HG01943.hp1
HG01952.hp1
HG02027.hp1
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03098.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18948.hp1
NA18965.hp1
NA18983.hp1
NA18986.hp1
NA19004.hp1
NA19012.hp1
NA19030.hp2
 intron_variant MODIFIER c.1277-33879delT
c.1277-33879delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68153210
chrX:68153269 C
C
 T
T
 3 a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
 3 HG02559.hp1
HG03130.hp1
NA19030.hp1
HG02559.hp1
HG03130.hp1
NA19030.hp1
 intron_variant MODIFIER c.1277-33937G>A
c.1277-33937G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68153269
chrX:68153572 G
G
 A
A
 1 a0001c0001t0006g0013
a0001c0001t0006g0013
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.1277-34240C>T
c.1277-34240C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68153572
chrX:68153854 T
T
 C
C
 34 a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
others(31): Show 
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0122
a0001c0001t0004g0005
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0013g0042
a0002c0002t0001g0002
a0002c0002t0003g0001
 34 HG00099.hp2
HG00735.hp2
HG01099.hp1
others(31): Show 
HG00099.hp2
HG00735.hp2
HG01099.hp1
HG01106.hp1
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp2
HG01358.hp1
HG02109.hp2
HG02145.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02630.hp2
HG02647.hp1
HG02818.hp2
HG02886.hp2
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03492.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG04199.hp1
NA18906.hp2
NA19030.hp1
NA19043.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1277-34522A>G
c.1277-34522A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68153854
chrX:68153857 T
T
 TA
TA
 2 a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0054
a0001c0001t0002g0055
 2 NA18983.hp1
NA18986.hp1
NA18983.hp1
NA18986.hp1
 intron_variant MODIFIER c.1277-34526dupT
c.1277-34526dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68153857
chrX:68153919 T
T
 C
C
 1 a0001c0001t0001g0044
a0001c0001t0001g0044
 1 HG03942.hp1
HG03942.hp1
 intron_variant MODIFIER c.1277-34587A>G
c.1277-34587A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68153919
chrX:68153939 A
A
 G
G
 38 a0001c0001t0001g0015
a0001c0001t0001g0040
a0001c0001t0001g0043
others(35): Show 
a0001c0001t0001g0015
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0144
a0001c0001t0003g0113
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0003c0004t0014g0102
 38 HG00099.hp1
HG00280.hp1
HG00673.hp1
others(35): Show 
HG00099.hp1
HG00280.hp1
HG00673.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01258.hp1
HG01261.hp1
HG01891.hp2
HG01943.hp1
HG01952.hp1
HG02027.hp1
HG02055.hp1
HG02071.hp1
HG02074.hp1
HG02109.hp1
HG02132.hp1
HG02683.hp1
HG02723.hp2
HG02886.hp1
HG03209.hp1
HG03471.hp1
HG03516.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18948.hp1
NA18962.hp1
NA18965.hp1
NA18983.hp1
NA18986.hp1
NA19004.hp1
NA19012.hp1
NA19030.hp2
NA19070.hp1
 intron_variant MODIFIER c.1277-34607T>C
c.1277-34607T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68153939
chrX:68153974 C
C
 T
T
 1 a0001c0001t0019g0003
a0001c0001t0019g0003
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.1277-34642G>A
c.1277-34642G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68153974
chrX:68154501 T
T
 C
C
 1 a0001c0001t0001g0058
a0001c0001t0001g0058
 1 HG02129.hp1
HG02129.hp1
 intron_variant MODIFIER c.1277-35169A>G
c.1277-35169A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68154501
chrX:68154558 C
C
 G
G
 78 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
others(75): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0154
a0001c0001t0002g0133
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0122
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 78 HG00099.hp2
HG00140.hp1
HG00609.hp1
others(75): Show 
HG00099.hp2
HG00140.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG02015.hp1
HG02056.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02300.hp1
HG02451.hp1
HG02559.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02683.hp2
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG02818.hp2
HG03017.hp1
HG03130.hp1
HG03490.hp1
HG03492.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18966.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19030.hp1
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1277-35226G>C
c.1277-35226G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68154558
chrX:68154805 T
T
 C
C
 1 a0001c0001t0013g0042
a0001c0001t0013g0042
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.1277-35473A>G
c.1277-35473A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68154805
chrX:68154861 C
C
 CCA
CCA
 70 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0017
others(67): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0049
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0149
a0001c0001t0001g0154
a0001c0001t0002g0083
a0001c0001t0002g0133
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0122
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0018g0104
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0026g0056
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 70 HG00099.hp2
HG00140.hp1
HG00280.hp1
others(67): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02300.hp1
HG02451.hp1
HG02559.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02683.hp2
HG02698.hp1
HG02735.hp1
HG02818.hp2
HG03017.hp1
HG03130.hp1
HG03492.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18955.hp1
NA18960.hp1
NA18965.hp1
NA18966.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA19000.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19030.hp1
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1277-35531_1277-35
others(8): Show 
c.1277-35531_1277-35530dupTG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68154861
chrX:68154861 C
C
 CCACA
CCACA
 22 a0001c0001t0001g0027
a0001c0001t0001g0051
a0001c0001t0001g0143
others(19): Show 
a0001c0001t0001g0027
a0001c0001t0001g0051
a0001c0001t0001g0143
a0001c0001t0001g0147
a0001c0001t0003g0113
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
 22 HG00621.hp1
HG00735.hp2
HG00738.hp1
others(19): Show 
HG00621.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01891.hp2
HG01934.hp1
HG02055.hp1
HG02280.hp2
HG02451.hp2
HG02723.hp2
HG02922.hp2
HG03209.hp1
HG03471.hp1
HG03490.hp1
HG03516.hp1
NA18522.hp1
NA18906.hp1
NA18994.hp1
NA19030.hp2
 intron_variant MODIFIER c.1277-35533_1277-35
others(10): Show 
c.1277-35533_1277-35530dupTGTG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68154861
chrX:68154861 C
C
 CCACACA
CCACACA
 23 a0001c0001t0001g0015
a0001c0001t0001g0043
a0001c0001t0001g0059
others(20): Show 
a0001c0001t0001g0015
a0001c0001t0001g0043
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0088
a0001c0001t0001g0097
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0057
a0001c0001t0002g0123
a0001c0001t0002g0144
a0001c0001t0004g0004
a0001c0001t0005g0107
a0001c0001t0008g0096
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0003c0004t0014g0102
 23 HG00099.hp1
HG00673.hp1
HG01258.hp1
others(20): Show 
HG00099.hp1
HG00673.hp1
HG01258.hp1
HG01261.hp1
HG01943.hp1
HG01952.hp1
HG02027.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02109.hp1
HG02132.hp1
HG02257.hp1
HG02486.hp1
HG02683.hp1
HG02886.hp1
HG04228.hp1
NA18747.hp1
NA18962.hp1
NA18970.hp1
NA19004.hp1
NA19012.hp1
NA19070.hp1
 intron_variant MODIFIER c.1277-35535_1277-35
others(12): Show 
c.1277-35535_1277-35530dupTGTGTG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68154861
chrX:68154861 C
C
 CCACACAC
others(1): Show 
CCACACACA
 14 a0001c0001t0001g0060
a0001c0001t0002g0021
a0001c0001t0002g0054
others(11): Show 
a0001c0001t0001g0060
a0001c0001t0002g0021
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0139
a0001c0001t0005g0110
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0025g0087
a0001c0001t0030g0155
 14 HG02015.hp1
HG02257.hp2
HG02258.hp1
others(11): Show 
HG02015.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02559.hp2
HG02809.hp1
HG02818.hp1
HG02895.hp1
HG02976.hp1
HG03540.hp2
NA18612.hp1
NA18943.hp1
NA18983.hp1
NA18986.hp1
 intron_variant MODIFIER c.1277-35537_1277-35
others(14): Show 
c.1277-35537_1277-35530dupTGTGTGTG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68154861
chrX:68154861 C
C
 CCACACAC
others(3): Show 
CCACACACACA
 1 a0001c0001t0005g0136
a0001c0001t0005g0136
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.1277-35539_1277-35
others(16): Show 
c.1277-35539_1277-35530dupTGTGTGTGTG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68154861
chrX:68154861 C
C
 CCACACAC
others(5): Show 
CCACACACACACA
 1 a0001c0001t0006g0013
a0001c0001t0006g0013
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.1277-35541_1277-35
others(18): Show 
c.1277-35541_1277-35530dupTGTGTGTGTGTG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68154861
chrX:68154861 CCA
CCA
 C
C
 1 a0001c0001t0001g0016
a0001c0001t0001g0016
 1 HG01256.hp1
HG01256.hp1
 intron_variant MODIFIER c.1277-35531_1277-35
others(8): Show 
c.1277-35531_1277-35530delTG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68154861
chrX:68154861 CCACA
CCACA
 C
C
 11 a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
others(8): Show 
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0006g0105
a0001c0001t0006g0106
 11 HG01255.hp1
HG02109.hp2
HG02145.hp1
others(8): Show 
HG01255.hp1
HG02109.hp2
HG02145.hp1
HG02647.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
 intron_variant MODIFIER c.1277-35533_1277-35
others(10): Show 
c.1277-35533_1277-35530delTGTG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68154861
chrX:68154861 CCACACA
CCACACA
 C
C
 1 a0001c0001t0019g0003
a0001c0001t0019g0003
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.1277-35535_1277-35
others(12): Show 
c.1277-35535_1277-35530delTGTGTG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68154861
chrX:68154861 CCACACAC
others(5): Show 
CCACACACACACA
 C
C
 4 a0001c0001t0002g0116
a0001c0001t0002g0127
a0001c0001t0002g0135
others(1): Show 
a0001c0001t0002g0116
a0001c0001t0002g0127
a0001c0001t0002g0135
a0001c0001t0005g0152
 4 HG02630.hp2
HG03540.hp1
HG03579.hp1
others(1): Show 
HG02630.hp2
HG03540.hp1
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.1277-35541_1277-35
others(18): Show 
c.1277-35541_1277-35530delTGTGTGTGTGTG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68154861
chrX:68154986 A
A
 G
G
 57 a0001c0001t0001g0015
a0001c0001t0001g0040
a0001c0001t0001g0043
others(54): Show 
a0001c0001t0001g0015
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0097
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0008g0096
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0003c0004t0014g0102
 57 HG00099.hp1
HG00280.hp1
HG00673.hp1
others(54): Show 
HG00099.hp1
HG00280.hp1
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01258.hp1
HG01261.hp1
HG01891.hp2
HG01943.hp1
HG01952.hp1
HG02027.hp1
HG02055.hp1
HG02071.hp1
HG02074.hp1
HG02109.hp1
HG02132.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG02922.hp2
HG02976.hp1
HG03209.hp1
HG03471.hp1
HG03516.hp1
HG03540.hp2
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18948.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18983.hp1
NA18986.hp1
NA19004.hp1
NA19012.hp1
NA19030.hp2
NA19070.hp1
 intron_variant MODIFIER c.1277-35654T>C
c.1277-35654T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68154986
chrX:68155037 G
G
 A
A
 2 a0001c0001t0001g0079
a0001c0001t0001g0090
a0001c0001t0001g0079
a0001c0001t0001g0090
 2 HG01433.hp1
NA20752.hp1
HG01433.hp1
NA20752.hp1
 intron_variant MODIFIER c.1277-35705C>T
c.1277-35705C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68155037
chrX:68155123 G
G
 C
C
 1 a0001c0001t0026g0056
a0001c0001t0026g0056
 1 NA20905.hp1
NA20905.hp1
 intron_variant MODIFIER c.1277-35791C>G
c.1277-35791C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68155123
chrX:68155237 CA
CA
 C
C
 1 a0001c0001t0001g0038
a0001c0001t0001g0038
 1 HG02602.hp1
HG02602.hp1
 intron_variant MODIFIER c.1277-35906delT
c.1277-35906delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68155237
chrX:68155359 T
T
 A
A
 13 a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
others(10): Show 
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0005g0152
 13 HG01255.hp1
HG02109.hp2
HG02145.hp1
others(10): Show 
HG01255.hp1
HG02109.hp2
HG02145.hp1
HG02630.hp2
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.1277-36027A>T
c.1277-36027A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68155359
chrX:68155571 C
C
 T
T
 2 a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0054
a0001c0001t0002g0055
 2 NA18983.hp1
NA18986.hp1
NA18983.hp1
NA18986.hp1
 intron_variant MODIFIER c.1277-36239G>A
c.1277-36239G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68155571
chrX:68155616 T
T
 C
C
 57 a0001c0001t0001g0015
a0001c0001t0001g0040
a0001c0001t0001g0043
others(54): Show 
a0001c0001t0001g0015
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0097
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0006g0013
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0008g0096
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0003c0004t0014g0102
 57 HG00099.hp1
HG00280.hp1
HG00673.hp1
others(54): Show 
HG00099.hp1
HG00280.hp1
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01258.hp1
HG01261.hp1
HG01891.hp2
HG01943.hp1
HG01952.hp1
HG02027.hp1
HG02055.hp1
HG02071.hp1
HG02074.hp1
HG02109.hp1
HG02132.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02630.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG02922.hp2
HG02976.hp1
HG03209.hp1
HG03471.hp1
HG03516.hp1
HG03540.hp2
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18948.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18983.hp1
NA18986.hp1
NA19004.hp1
NA19012.hp1
NA19030.hp2
NA19070.hp1
 intron_variant MODIFIER c.1277-36284A>G
c.1277-36284A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68155616
chrX:68156001 T
T
 C
C
 16 a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
others(13): Show 
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
 16 HG01255.hp1
HG02109.hp2
HG02145.hp1
others(13): Show 
HG01255.hp1
HG02109.hp2
HG02145.hp1
HG02559.hp2
HG02630.hp2
HG02647.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.1277-36669A>G
c.1277-36669A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68156001
chrX:68156213 T
T
 C
C
 151 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(148): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 151 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(148): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03017.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1276+36706A>G
c.1276+36706A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68156213
chrX:68156282 T
T
 A
A
 1 a0001c0001t0003g0035
a0001c0001t0003g0035
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.1276+36637A>T
c.1276+36637A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68156282
chrX:68156304 T
T
 TA
TA
 34 a0001c0001t0002g0021
a0001c0001t0002g0134
a0001c0001t0003g0018
others(31): Show 
a0001c0001t0002g0021
a0001c0001t0002g0134
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0004g0005
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0013g0042
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0030g0155
a0002c0002t0001g0002
a0002c0002t0003g0001
 34 HG00735.hp2
HG00738.hp1
HG01099.hp1
others(31): Show 
HG00735.hp2
HG00738.hp1
HG01099.hp1
HG01106.hp1
HG01192.hp1
HG01243.hp1
HG01346.hp2
HG01358.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp2
HG02647.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02976.hp1
HG03130.hp1
HG03540.hp2
HG04199.hp1
NA19030.hp1
NA19043.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1276+36614dupT
c.1276+36614dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68156304
chrX:68156304 T
T
 TAA
TAA
 11 a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
others(8): Show 
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
 11 HG01255.hp1
HG02109.hp2
HG02922.hp1
others(8): Show 
HG01255.hp1
HG02109.hp2
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.1276+36613_1276+36
others(8): Show 
c.1276+36613_1276+36614dupTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68156304
chrX:68156304 T
T
 TAAA
TAAA
 1 a0001c0001t0002g0115
a0001c0001t0002g0115
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.1276+36612_1276+36
others(9): Show 
c.1276+36612_1276+36614dupTTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68156304
chrX:68156478 C
C
 T
T
 82 a0001c0001t0001g0015
a0001c0001t0001g0040
a0001c0001t0001g0059
others(79): Show 
a0001c0001t0001g0015
a0001c0001t0001g0040
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0027g0072
a0001c0001t0030g0155
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
 82 HG00099.hp1
HG00280.hp1
HG00673.hp1
others(79): Show 
HG00099.hp1
HG00280.hp1
HG00673.hp1
HG00735.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01891.hp2
HG01943.hp1
HG01952.hp1
HG02027.hp1
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18948.hp1
NA18965.hp1
NA18983.hp1
NA18986.hp1
NA19004.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1276+36441G>A
c.1276+36441G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68156478
chrX:68156572 A
A
 C
C
 3 a0001c0001t0001g0041
a0001c0001t0001g0092
a0001c0001t0024g0007
a0001c0001t0001g0041
a0001c0001t0001g0092
a0001c0001t0024g0007
 3 NA18960.hp1
NA19000.hp1
NA19007.hp1
NA18960.hp1
NA19000.hp1
NA19007.hp1
 intron_variant MODIFIER c.1276+36347T>G
c.1276+36347T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68156572
chrX:68157008 A
A
 G
G
 8 a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
others(5): Show 
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
 8 HG02109.hp2
HG02145.hp1
HG02922.hp1
others(5): Show 
HG02109.hp2
HG02145.hp1
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
 intron_variant MODIFIER c.1276+35911T>C
c.1276+35911T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68157008
chrX:68157085 T
T
 G
G
 12 a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
others(9): Show 
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
 12 HG01255.hp1
HG02109.hp2
HG02145.hp1
others(9): Show 
HG01255.hp1
HG02109.hp2
HG02145.hp1
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.1276+35834A>C
c.1276+35834A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68157085
chrX:68157145 C
C
 T
T
 1 a0001c0001t0003g0101
a0001c0001t0003g0101
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.1276+35774G>A
c.1276+35774G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68157145
chrX:68157719 CAAAAT
CAAAAT
 C
C
 79 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
others(76): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0154
a0001c0001t0002g0133
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0122
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0020g0099
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 79 HG00099.hp2
HG00140.hp1
HG00609.hp1
others(76): Show 
HG00099.hp2
HG00140.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00735.hp1
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG02015.hp1
HG02056.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02300.hp1
HG02451.hp1
HG02559.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02683.hp2
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG02818.hp2
HG03017.hp1
HG03130.hp1
HG03490.hp1
HG03492.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18966.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19030.hp1
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1276+35195_1276+35
others(11): Show 
c.1276+35195_1276+35199delATTTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68157719
chrX:68157759 C
C
 G
G
 2 a0001c0001t0001g0068
a0001c0001t0001g0073
a0001c0001t0001g0068
a0001c0001t0001g0073
 2 NA19066.hp1
NA19068.hp1
NA19066.hp1
NA19068.hp1
 intron_variant MODIFIER c.1276+35160G>C
c.1276+35160G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68157759
chrX:68157819 A
A
 C
C
 1 a0001c0001t0006g0013
a0001c0001t0006g0013
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.1276+35100T>G
c.1276+35100T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68157819
chrX:68158049 C
C
 T
T
 1 a0001c0001t0019g0003
a0001c0001t0019g0003
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.1276+34870G>A
c.1276+34870G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68158049
chrX:68158103 T
T
 C
C
 1 a0001c0001t0019g0003
a0001c0001t0019g0003
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.1276+34816A>G
c.1276+34816A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68158103
chrX:68158447 C
C
 T
T
 1 a0001c0001t0019g0003
a0001c0001t0019g0003
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.1276+34472G>A
c.1276+34472G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68158447
chrX:68158664 C
C
 G
G
 3 a0001c0001t0001g0045
a0001c0001t0001g0078
a0001c0001t0019g0003
a0001c0001t0001g0045
a0001c0001t0001g0078
a0001c0001t0019g0003
 3 HG02809.hp2
NA19085.hp1
NA19088.hp1
HG02809.hp2
NA19085.hp1
NA19088.hp1
 intron_variant MODIFIER c.1276+34255G>C
c.1276+34255G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68158664
chrX:68159550 T
T
 C
C
 1 a0001c0001t0019g0003
a0001c0001t0019g0003
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.1276+33369A>G
c.1276+33369A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68159550
chrX:68159606 C
C
 A
A
 33 a0001c0001t0001g0015
a0001c0001t0001g0040
a0001c0001t0001g0059
others(30): Show 
a0001c0001t0001g0015
a0001c0001t0001g0040
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0144
a0001c0001t0003g0113
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0027g0072
a0003c0004t0014g0102
 33 HG00099.hp1
HG00280.hp1
HG00673.hp1
others(30): Show 
HG00099.hp1
HG00280.hp1
HG00673.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01258.hp1
HG01261.hp1
HG01943.hp1
HG01952.hp1
HG02027.hp1
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02132.hp1
HG02683.hp1
HG02723.hp2
HG02886.hp1
HG03209.hp1
HG03471.hp1
HG03516.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18948.hp1
NA18965.hp1
NA18983.hp1
NA18986.hp1
NA19004.hp1
NA19012.hp1
NA19030.hp2
 intron_variant MODIFIER c.1276+33313G>T
c.1276+33313G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68159606
chrX:68159992 A
A
 C
C
 1 a0001c0001t0026g0056
a0001c0001t0026g0056
 1 NA20905.hp1
NA20905.hp1
 intron_variant MODIFIER c.1276+32927T>G
c.1276+32927T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68159992
chrX:68159997 T
T
 TA
TA
 40 a0001c0001t0001g0015
a0001c0001t0001g0040
a0001c0001t0001g0043
others(37): Show 
a0001c0001t0001g0015
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0097
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0144
a0001c0001t0003g0113
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0003c0004t0014g0102
 40 HG00099.hp1
HG00280.hp1
HG00673.hp1
others(37): Show 
HG00099.hp1
HG00280.hp1
HG00673.hp1
HG00735.hp2
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01258.hp1
HG01261.hp1
HG01891.hp2
HG01943.hp1
HG01952.hp1
HG02027.hp1
HG02055.hp1
HG02071.hp1
HG02074.hp1
HG02109.hp1
HG02132.hp1
HG02683.hp1
HG02723.hp2
HG02886.hp1
HG03209.hp1
HG03471.hp1
HG03516.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18948.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18983.hp1
NA18986.hp1
NA19004.hp1
NA19012.hp1
NA19030.hp2
NA19070.hp1
 intron_variant MODIFIER c.1276+32921dupT
c.1276+32921dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68159997
chrX:68159997 TA
TA
 T
T
 1 a0001c0001t0019g0003
a0001c0001t0019g0003
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.1276+32921delT
c.1276+32921delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68159997
chrX:68160384 G
G
 A
A
 2 a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0105
a0001c0001t0006g0106
 2 HG02647.hp1
HG02886.hp2
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.1276+32535C>T
c.1276+32535C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68160384
chrX:68160654 A
A
 G
G
 59 a0001c0001t0001g0015
a0001c0001t0001g0040
a0001c0001t0001g0043
others(56): Show 
a0001c0001t0001g0015
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0097
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0008g0096
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0003c0004t0014g0102
 59 HG00099.hp1
HG00280.hp1
HG00673.hp1
others(56): Show 
HG00099.hp1
HG00280.hp1
HG00673.hp1
HG00735.hp2
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01258.hp1
HG01261.hp1
HG01891.hp2
HG01943.hp1
HG01952.hp1
HG02027.hp1
HG02055.hp1
HG02071.hp1
HG02074.hp1
HG02109.hp1
HG02132.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02630.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp2
HG02976.hp1
HG03209.hp1
HG03471.hp1
HG03516.hp1
HG03540.hp2
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18948.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18983.hp1
NA18986.hp1
NA19004.hp1
NA19012.hp1
NA19030.hp2
NA19070.hp1
 intron_variant MODIFIER c.1276+32265T>C
c.1276+32265T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68160654
chrX:68160680 C
C
 T
T
 10 a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
others(7): Show 
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0008g0112
a0001c0001t0013g0042
a0002c0002t0001g0002
a0002c0002t0003g0001
 10 HG00099.hp2
HG01099.hp1
HG01106.hp1
others(7): Show 
HG00099.hp2
HG01099.hp1
HG01106.hp1
HG01192.hp1
HG01346.hp2
HG01358.hp1
HG02615.hp1
HG02818.hp2
HG04199.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1276+32239G>A
c.1276+32239G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68160680
chrX:68160682 T
T
 A
A
 1 a0001c0001t0019g0003
a0001c0001t0019g0003
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.1276+32237A>T
c.1276+32237A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68160682
chrX:68160944 A
A
 G
G
 1 a0001c0001t0017g0036
a0001c0001t0017g0036
 1 HG01952.hp1
HG01952.hp1
 intron_variant MODIFIER c.1276+31975T>C
c.1276+31975T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68160944
chrX:68161143 T
T
 C
C
 54 a0001c0001t0001g0015
a0001c0001t0001g0040
a0001c0001t0001g0059
others(51): Show 
a0001c0001t0001g0015
a0001c0001t0001g0040
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0008g0096
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0027g0072
a0001c0001t0030g0155
a0003c0004t0014g0102
 54 HG00099.hp1
HG00280.hp1
HG00673.hp1
others(51): Show 
HG00099.hp1
HG00280.hp1
HG00673.hp1
HG00735.hp2
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01258.hp1
HG01261.hp1
HG01891.hp2
HG01943.hp1
HG01952.hp1
HG02027.hp1
HG02055.hp1
HG02071.hp1
HG02074.hp1
HG02109.hp1
HG02132.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02630.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp2
HG02976.hp1
HG03209.hp1
HG03471.hp1
HG03516.hp1
HG03540.hp2
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18948.hp1
NA18965.hp1
NA18983.hp1
NA18986.hp1
NA19004.hp1
NA19012.hp1
NA19030.hp2
 intron_variant MODIFIER c.1276+31776A>G
c.1276+31776A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68161143
chrX:68161222 TAA
TAA
 T
T
 1 a0001c0001t0019g0003
a0001c0001t0019g0003
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.1276+31695_1276+31
others(8): Show 
c.1276+31695_1276+31696delTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68161222
chrX:68161299 T
T
 G
G
 1 a0001c0001t0020g0099
a0001c0001t0020g0099
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.1276+31620A>C
c.1276+31620A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68161299
chrX:68161338 C
C
 A
A
 1 a0001c0001t0020g0099
a0001c0001t0020g0099
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.1276+31581G>T
c.1276+31581G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68161338
chrX:68161357 G
G
 A
A
 12 a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
others(9): Show 
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
 12 HG01255.hp1
HG02109.hp2
HG02145.hp1
others(9): Show 
HG01255.hp1
HG02109.hp2
HG02145.hp1
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.1276+31562C>T
c.1276+31562C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68161357
chrX:68161386 C
C
 T
T
 2 a0001c0001t0001g0045
a0001c0001t0001g0078
a0001c0001t0001g0045
a0001c0001t0001g0078
 2 NA19085.hp1
NA19088.hp1
NA19085.hp1
NA19088.hp1
 intron_variant MODIFIER c.1276+31533G>A
c.1276+31533G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68161386
chrX:68161606 GA
GA
 G
G
 1 a0001c0001t0003g0109
a0001c0001t0003g0109
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.1276+31312delT
c.1276+31312delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68161606
chrX:68161747 T
T
 C
C
 14 a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
others(11): Show 
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0122
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0013g0042
a0002c0002t0001g0002
a0002c0002t0003g0001
 14 HG00099.hp2
HG01099.hp1
HG01106.hp1
others(11): Show 
HG00099.hp2
HG01099.hp1
HG01106.hp1
HG01192.hp1
HG01243.hp1
HG01346.hp2
HG01358.hp1
HG02451.hp1
HG02559.hp1
HG02818.hp2
HG04199.hp1
NA19030.hp1
NA19043.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1276+31172A>G
c.1276+31172A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68161747
chrX:68161940 G
G
 T
T
 2 a0001c0001t0001g0068
a0001c0001t0001g0073
a0001c0001t0001g0068
a0001c0001t0001g0073
 2 NA19066.hp1
NA19068.hp1
NA19066.hp1
NA19068.hp1
 intron_variant MODIFIER c.1276+30979C>A
c.1276+30979C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68161940
chrX:68162059 C
C
 A
A
 43 a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
others(40): Show 
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0021
a0001c0001t0002g0083
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0008g0096
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0027g0072
a0001c0001t0030g0155
 43 HG00099.hp1
HG00280.hp1
HG00735.hp2
others(40): Show 
HG00099.hp1
HG00280.hp1
HG00735.hp2
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01258.hp1
HG01261.hp1
HG01891.hp2
HG01952.hp1
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02132.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02615.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02895.hp1
HG02922.hp2
HG02976.hp1
HG03209.hp1
HG03471.hp1
HG03516.hp1
HG03540.hp2
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18948.hp1
NA19030.hp2
 intron_variant MODIFIER c.1276+30860G>T
c.1276+30860G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68162059
chrX:68162206 C
C
 G
G
 2 a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0006g0120
a0001c0001t0006g0121
 2 HG01167.hp1
HG01169.hp1
HG01167.hp1
HG01169.hp1
 intron_variant MODIFIER c.1276+30713G>C
c.1276+30713G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68162206
chrX:68162348 T
T
 C
C
 1 a0001c0001t0001g0075
a0001c0001t0001g0075
 1 NA18977.hp1
NA18977.hp1
 intron_variant MODIFIER c.1276+30571A>G
c.1276+30571A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68162348
chrX:68162448 C
C
 T
T
 1 a0001c0001t0019g0003
a0001c0001t0019g0003
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.1276+30471G>A
c.1276+30471G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68162448
chrX:68162470 A
A
 C
C
 50 a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
others(47): Show 
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0021
a0001c0001t0002g0083
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0008g0096
a0001c0001t0013g0042
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0027g0072
a0001c0001t0030g0155
a0002c0002t0001g0002
a0002c0002t0003g0001
 50 HG00099.hp1
HG00280.hp1
HG00735.hp2
others(47): Show 
HG00099.hp1
HG00280.hp1
HG00735.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01192.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01891.hp2
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02132.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02615.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp2
HG02976.hp1
HG03209.hp1
HG03471.hp1
HG03516.hp1
HG03540.hp2
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18948.hp1
NA19030.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1276+30449T>G
c.1276+30449T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68162470
chrX:68162493 T
T
 A
A
 50 a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
others(47): Show 
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0021
a0001c0001t0002g0083
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0008g0096
a0001c0001t0013g0042
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0027g0072
a0001c0001t0030g0155
a0002c0002t0001g0002
a0002c0002t0003g0001
 50 HG00099.hp1
HG00280.hp1
HG00735.hp2
others(47): Show 
HG00099.hp1
HG00280.hp1
HG00735.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01192.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01891.hp2
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02132.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02615.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp2
HG02976.hp1
HG03209.hp1
HG03471.hp1
HG03516.hp1
HG03540.hp2
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18948.hp1
NA19030.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1276+30426A>T
c.1276+30426A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68162493
chrX:68162575 G
G
 A
A
 1 a0001c0001t0001g0048
a0001c0001t0001g0048
 1 HG02738.hp1
HG02738.hp1
 intron_variant MODIFIER c.1276+30344C>T
c.1276+30344C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68162575
chrX:68162890 C
C
 A
A
 3 a0001c0001t0001g0090
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0001g0090
a0001c0001t0009g0128
a0001c0001t0009g0129
 3 HG01243.hp1
HG01433.hp1
HG02451.hp1
HG01243.hp1
HG01433.hp1
HG02451.hp1
 intron_variant MODIFIER c.1276+30029G>T
c.1276+30029G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68162890
chrX:68163049 C
C
 T
T
 50 a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
others(47): Show 
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0021
a0001c0001t0002g0083
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0008g0096
a0001c0001t0013g0042
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0027g0072
a0001c0001t0030g0155
a0002c0002t0001g0002
a0002c0002t0003g0001
 50 HG00099.hp1
HG00280.hp1
HG00735.hp2
others(47): Show 
HG00099.hp1
HG00280.hp1
HG00735.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01192.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01891.hp2
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02132.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02615.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp2
HG02976.hp1
HG03209.hp1
HG03471.hp1
HG03516.hp1
HG03540.hp2
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18948.hp1
NA19030.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1276+29870G>A
c.1276+29870G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68163049
chrX:68163282 A
A
 AT
AT
 11 a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
others(8): Show 
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0083
a0001c0001t0002g0124
a0001c0001t0002g0144
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0022g0103
a0001c0001t0027g0072
 11 HG00099.hp1
HG00280.hp1
HG01081.hp1
others(8): Show 
HG00099.hp1
HG00280.hp1
HG01081.hp1
HG01258.hp1
HG01261.hp1
HG02074.hp1
HG02132.hp1
HG02683.hp1
HG04228.hp1
NA18612.hp1
NA18948.hp1
 intron_variant MODIFIER c.1276+29636dupA
c.1276+29636dupA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68163282
chrX:68163320 T
T
 C
C
 50 a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
others(47): Show 
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0021
a0001c0001t0002g0083
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0008g0096
a0001c0001t0013g0042
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0027g0072
a0001c0001t0030g0155
a0002c0002t0001g0002
a0002c0002t0003g0001
 50 HG00099.hp1
HG00280.hp1
HG00735.hp2
others(47): Show 
HG00099.hp1
HG00280.hp1
HG00735.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01192.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01891.hp2
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02132.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02615.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp2
HG02976.hp1
HG03209.hp1
HG03471.hp1
HG03516.hp1
HG03540.hp2
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18948.hp1
NA19030.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1276+29599A>G
c.1276+29599A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68163320
chrX:68163428 C
C
 CTG
CTG
 2 a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0019g0003
a0001c0001t0020g0099
 2 HG00738.hp1
HG02809.hp2
HG00738.hp1
HG02809.hp2
 intron_variant MODIFIER c.1276+29489_1276+29
others(8): Show 
c.1276+29489_1276+29490dupCA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68163428
chrX:68163428 CTG
CTG
 C
C
 97 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(94): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0154
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0003g0065
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0122
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0015g0148
a0001c0001t0017g0036
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0003c0004t0014g0102
a0004c0005t0012g0024
 97 HG00099.hp2
HG00140.hp1
HG00609.hp1
others(94): Show 
HG00099.hp2
HG00140.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01169.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01346.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02071.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02135.hp1
HG02145.hp1
HG02300.hp1
HG02451.hp1
HG02559.hp1
HG02602.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp1
HG02965.hp1
HG03017.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.1276+29489_1276+29
others(8): Show 
c.1276+29489_1276+29490delCA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68163428
chrX:68163438 GT
GT
 G
G
 1 a0001c0001t0023g0037
a0001c0001t0023g0037
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.1276+29480delA
c.1276+29480delA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68163438
chrX:68163456 GTGTATA
GTGTATA
 G
G
 9 a0001c0001t0003g0020
a0001c0001t0003g0109
a0001c0001t0003g0139
others(6): Show 
a0001c0001t0003g0020
a0001c0001t0003g0109
a0001c0001t0003g0139
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0030g0155
 9 HG02258.hp1
HG02486.hp1
HG02615.hp1
others(6): Show 
HG02258.hp1
HG02486.hp1
HG02615.hp1
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02895.hp1
HG02976.hp1
HG03540.hp2
 intron_variant MODIFIER c.1276+29457_1276+29
others(12): Show 
c.1276+29457_1276+29462delTATACA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68163456
chrX:68163458 GTA
GTA
 G
G
 32 a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
others(29): Show 
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0083
a0001c0001t0002g0124
a0001c0001t0002g0144
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0100
a0001c0001t0003g0113
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0117
a0001c0001t0007g0022
a0001c0001t0008g0096
a0001c0001t0013g0042
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0027g0072
a0002c0002t0001g0002
a0002c0002t0003g0001
 32 HG00099.hp1
HG00280.hp1
HG00735.hp2
others(29): Show 
HG00099.hp1
HG00280.hp1
HG00735.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01192.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01891.hp2
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02132.hp1
HG02257.hp1
HG02280.hp2
HG02451.hp2
HG02683.hp1
HG02723.hp2
HG02922.hp2
HG03471.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18948.hp1
NA19030.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1276+29459_1276+29
others(8): Show 
c.1276+29459_1276+29460delTA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68163458
chrX:68163458 GTATA
GTATA
 G
G
 2 a0001c0001t0002g0021
a0001c0001t0003g0018
a0001c0001t0002g0021
a0001c0001t0003g0018
 2 HG02257.hp2
HG02280.hp1
HG02257.hp2
HG02280.hp1
 intron_variant MODIFIER c.1276+29457_1276+29
others(10): Show 
c.1276+29457_1276+29460delTATA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68163458
chrX:68163460 A
A
 G
G
 5 a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0006g0120
others(2): Show 
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0019g0003
 5 HG01167.hp1
HG01169.hp1
HG02809.hp2
others(2): Show 
HG01167.hp1
HG01169.hp1
HG02809.hp2
HG03209.hp1
HG03516.hp1
 intron_variant MODIFIER c.1276+29459T>C
c.1276+29459T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68163460
chrX:68163462 A
A
 G
G
 37 a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
others(34): Show 
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0083
a0001c0001t0002g0124
a0001c0001t0002g0144
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0100
a0001c0001t0003g0113
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0008g0096
a0001c0001t0013g0042
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0027g0072
a0002c0002t0001g0002
a0002c0002t0003g0001
 37 HG00099.hp1
HG00280.hp1
HG00735.hp2
others(34): Show 
HG00099.hp1
HG00280.hp1
HG00735.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01192.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01891.hp2
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02132.hp1
HG02257.hp1
HG02280.hp2
HG02451.hp2
HG02683.hp1
HG02723.hp2
HG02809.hp2
HG02922.hp2
HG03209.hp1
HG03471.hp1
HG03516.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18948.hp1
NA19030.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1276+29457T>C
c.1276+29457T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68163462
chrX:68163751 A
A
 C
C
 1 a0001c0001t0004g0026
a0001c0001t0004g0026
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.1276+29168T>G
c.1276+29168T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68163751
chrX:68163762 A
A
 G
G
 13 a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
others(10): Show 
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0003c0004t0014g0102
 13 HG01255.hp1
HG02109.hp2
HG02145.hp1
others(10): Show 
HG01255.hp1
HG02109.hp2
HG02145.hp1
HG02886.hp1
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.1276+29157T>C
c.1276+29157T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68163762
chrX:68163934 A
A
 G
G
 1 a0001c0001t0019g0003
a0001c0001t0019g0003
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.1276+28985T>C
c.1276+28985T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68163934
chrX:68164009 C
C
 T
T
 1 a0001c0001t0001g0046
a0001c0001t0001g0046
 1 HG01928.hp1
HG01928.hp1
 intron_variant MODIFIER c.1276+28910G>A
c.1276+28910G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68164009
chrX:68164058 C
C
 T
T
 78 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(75): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0154
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0123
a0001c0001t0002g0133
a0001c0001t0003g0065
a0001c0001t0003g0081
a0001c0001t0007g0032
a0001c0001t0011g0061
a0001c0001t0015g0148
a0001c0001t0017g0036
a0001c0001t0020g0099
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0004c0005t0012g0024
 78 HG00140.hp1
HG00609.hp1
HG00621.hp1
others(75): Show 
HG00140.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01169.hp2
HG01256.hp1
HG01346.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02071.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02300.hp1
HG02602.hp1
HG02615.hp2
HG02683.hp2
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG03017.hp1
HG03130.hp1
HG03490.hp1
HG03492.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.1276+28861G>A
c.1276+28861G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68164058
chrX:68164249 C
C
 G
G
 1 a0002c0002t0001g0002
a0002c0002t0001g0002
 1 HG01358.hp1
HG01358.hp1
 intron_variant MODIFIER c.1276+28670G>C
c.1276+28670G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68164249
chrX:68164373 A
A
 G
G
 51 a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
others(48): Show 
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0021
a0001c0001t0002g0083
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0008g0096
a0001c0001t0013g0042
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0027g0072
a0001c0001t0030g0155
a0002c0002t0001g0002
a0002c0002t0003g0001
 51 HG00099.hp1
HG00280.hp1
HG00735.hp2
others(48): Show 
HG00099.hp1
HG00280.hp1
HG00735.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01192.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01891.hp2
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02132.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02615.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp2
HG02976.hp1
HG03209.hp1
HG03471.hp1
HG03516.hp1
HG03540.hp2
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18948.hp1
NA19030.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1276+28546T>C
c.1276+28546T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68164373
chrX:68165015 C
C
 T
T
 14 a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
others(11): Show 
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0005g0152
a0003c0004t0014g0102
 14 HG01255.hp1
HG02109.hp2
HG02145.hp1
others(11): Show 
HG01255.hp1
HG02109.hp2
HG02145.hp1
HG02630.hp2
HG02886.hp1
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.1276+27904G>A
c.1276+27904G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68165015
chrX:68165029 A
A
 G
G
 1 a0001c0001t0004g0004
a0001c0001t0004g0004
 1 HG02109.hp1
HG02109.hp1
 intron_variant MODIFIER c.1276+27890T>C
c.1276+27890T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68165029
chrX:68165090 T
T
 C
C
 151 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(148): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 151 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(148): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03017.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1276+27829A>G
c.1276+27829A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68165090
chrX:68165130 T
T
 C
C
 77 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(74): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0154
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0123
a0001c0001t0002g0133
a0001c0001t0003g0065
a0001c0001t0003g0081
a0001c0001t0007g0032
a0001c0001t0011g0061
a0001c0001t0015g0148
a0001c0001t0017g0036
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0004c0005t0012g0024
 77 HG00140.hp1
HG00609.hp1
HG00621.hp1
others(74): Show 
HG00140.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01169.hp2
HG01256.hp1
HG01346.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02071.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02300.hp1
HG02602.hp1
HG02615.hp2
HG02683.hp2
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG03017.hp1
HG03130.hp1
HG03490.hp1
HG03492.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.1276+27789A>G
c.1276+27789A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68165130
chrX:68165258 C
C
 G
G
 1 a0001c0001t0006g0013
a0001c0001t0006g0013
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.1276+27661G>C
c.1276+27661G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68165258
chrX:68165280 A
A
 C
C
 2 a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0128
a0001c0001t0009g0129
 2 HG01243.hp1
HG02451.hp1
HG01243.hp1
HG02451.hp1
 intron_variant MODIFIER c.1276+27639T>G
c.1276+27639T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68165280
chrX:68165415 G
G
 GTA
GTA
 151 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(148): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 151 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(148): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03017.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1276+27503_1276+27
others(8): Show 
c.1276+27503_1276+27504insTA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68165415
chrX:68165495 G
G
 T
T
 47 a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
others(44): Show 
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0021
a0001c0001t0002g0083
a0001c0001t0002g0124
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0008g0096
a0001c0001t0013g0042
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0027g0072
a0001c0001t0030g0155
a0002c0002t0001g0002
a0002c0002t0003g0001
 47 HG00099.hp1
HG00280.hp1
HG00735.hp2
others(44): Show 
HG00099.hp1
HG00280.hp1
HG00735.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01192.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01891.hp2
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02132.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02615.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02895.hp1
HG02922.hp2
HG02976.hp1
HG03209.hp1
HG03471.hp1
HG03516.hp1
HG03540.hp2
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18948.hp1
NA19030.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1276+27424C>A
c.1276+27424C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68165495
chrX:68165717 C
C
 T
T
 14 a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
others(11): Show 
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0005g0152
a0003c0004t0014g0102
 14 HG01255.hp1
HG02109.hp2
HG02145.hp1
others(11): Show 
HG01255.hp1
HG02109.hp2
HG02145.hp1
HG02630.hp2
HG02886.hp1
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.1276+27202G>A
c.1276+27202G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68165717
chrX:68165755 C
C
 T
T
 1 a0001c0001t0001g0025
a0001c0001t0001g0025
 1 HG01515.hp1
HG01515.hp1
 intron_variant MODIFIER c.1276+27164G>A
c.1276+27164G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68165755
chrX:68166002 G
G
 C
C
 14 a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
others(11): Show 
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0005g0152
a0003c0004t0014g0102
 14 HG01255.hp1
HG02109.hp2
HG02145.hp1
others(11): Show 
HG01255.hp1
HG02109.hp2
HG02145.hp1
HG02630.hp2
HG02886.hp1
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.1276+26917C>G
c.1276+26917C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68166002
chrX:68166102 A
A
 C
C
 21 a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
others(18): Show 
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0083
a0001c0001t0002g0124
a0001c0001t0002g0144
a0001c0001t0003g0113
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0022g0103
a0001c0001t0027g0072
 21 HG00099.hp1
HG00280.hp1
HG00735.hp2
others(18): Show 
HG00099.hp1
HG00280.hp1
HG00735.hp2
HG01081.hp1
HG01167.hp1
HG01169.hp1
HG01258.hp1
HG01261.hp1
HG01891.hp2
HG02074.hp1
HG02132.hp1
HG02683.hp1
HG02723.hp2
HG02809.hp2
HG03209.hp1
HG03516.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18948.hp1
NA19030.hp2
 intron_variant MODIFIER c.1276+26817T>G
c.1276+26817T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68166102
chrX:68166158 A
A
 C
C
 21 a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
others(18): Show 
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0083
a0001c0001t0002g0124
a0001c0001t0002g0144
a0001c0001t0003g0113
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0022g0103
a0001c0001t0027g0072
 21 HG00099.hp1
HG00280.hp1
HG00735.hp2
others(18): Show 
HG00099.hp1
HG00280.hp1
HG00735.hp2
HG01081.hp1
HG01167.hp1
HG01169.hp1
HG01258.hp1
HG01261.hp1
HG01891.hp2
HG02074.hp1
HG02132.hp1
HG02683.hp1
HG02723.hp2
HG02809.hp2
HG03209.hp1
HG03516.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18948.hp1
NA19030.hp2
 intron_variant MODIFIER c.1276+26761T>G
c.1276+26761T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68166158
chrX:68166401 G
G
 C
C
 1 a0001c0001t0005g0107
a0001c0001t0005g0107
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.1276+26518C>G
c.1276+26518C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68166401
chrX:68166403 G
G
 A
A
 19 a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
others(16): Show 
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0083
a0001c0001t0002g0124
a0001c0001t0002g0144
a0001c0001t0003g0113
a0001c0001t0003g0151
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0022g0103
a0001c0001t0027g0072
 19 HG00099.hp1
HG00280.hp1
HG01081.hp1
others(16): Show 
HG00099.hp1
HG00280.hp1
HG01081.hp1
HG01167.hp1
HG01169.hp1
HG01258.hp1
HG01261.hp1
HG02074.hp1
HG02132.hp1
HG02683.hp1
HG02723.hp2
HG02809.hp2
HG03209.hp1
HG03516.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18948.hp1
NA19030.hp2
 intron_variant MODIFIER c.1276+26516C>T
c.1276+26516C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68166403
chrX:68166448 C
C
 T
T
 2 a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0006g0120
a0001c0001t0006g0121
 2 HG01167.hp1
HG01169.hp1
HG01167.hp1
HG01169.hp1
 intron_variant MODIFIER c.1276+26471G>A
c.1276+26471G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68166448
chrX:68166685 C
C
 T
T
 2 a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0109
a0001c0001t0003g0113
 2 HG02615.hp1
HG02723.hp2
HG02615.hp1
HG02723.hp2
 intron_variant MODIFIER c.1276+26234G>A
c.1276+26234G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68166685
chrX:68166697 T
T
 C
C
 150 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(147): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 150 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(147): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03017.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1276+26222A>G
c.1276+26222A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68166697
chrX:68167216 CA
CA
 C
C
 1 a0001c0001t0015g0148
a0001c0001t0015g0148
 1 HG01943.hp1
HG01943.hp1
 intron_variant MODIFIER c.1276+25702delT
c.1276+25702delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68167216
chrX:68167246 T
T
 C
C
 151 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(148): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 151 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(148): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03017.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1276+25673A>G
c.1276+25673A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68167246
chrX:68167327 T
T
 C
C
 1 a0001c0001t0020g0099
a0001c0001t0020g0099
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.1276+25592A>G
c.1276+25592A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68167327
chrX:68167460 A
A
 C
C
 1 a0001c0001t0001g0029
a0001c0001t0001g0029
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.1276+25459T>G
c.1276+25459T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68167460
chrX:68167517 G
G
 A
A
 150 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(147): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 150 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(147): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03017.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1276+25402C>T
c.1276+25402C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68167517
chrX:68167528 T
T
 G
G
 7 a0001c0001t0003g0091
a0001c0001t0003g0122
a0001c0001t0007g0023
others(4): Show 
a0001c0001t0003g0091
a0001c0001t0003g0122
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
 7 HG00099.hp2
HG01243.hp1
HG02451.hp1
others(4): Show 
HG00099.hp2
HG01243.hp1
HG02451.hp1
HG02559.hp1
HG02818.hp2
NA19030.hp1
NA19043.hp1
 intron_variant MODIFIER c.1276+25391A>C
c.1276+25391A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68167528
chrX:68167541 G
G
 A
A
 51 a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
others(48): Show 
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0021
a0001c0001t0002g0083
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0008g0096
a0001c0001t0013g0042
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0027g0072
a0001c0001t0030g0155
a0002c0002t0001g0002
a0002c0002t0003g0001
 51 HG00099.hp1
HG00280.hp1
HG00735.hp2
others(48): Show 
HG00099.hp1
HG00280.hp1
HG00735.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01192.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01891.hp2
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02132.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02615.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp2
HG02976.hp1
HG03209.hp1
HG03471.hp1
HG03516.hp1
HG03540.hp2
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18948.hp1
NA19030.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1276+25378C>T
c.1276+25378C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68167541
chrX:68167623 G
G
 T
T
 1 a0001c0001t0005g0137
a0001c0001t0005g0137
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.1276+25296C>A
c.1276+25296C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68167623
chrX:68167667 A
A
 G
G
 21 a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
others(18): Show 
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0083
a0001c0001t0002g0124
a0001c0001t0002g0144
a0001c0001t0003g0113
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0022g0103
a0001c0001t0027g0072
 21 HG00099.hp1
HG00280.hp1
HG00735.hp2
others(18): Show 
HG00099.hp1
HG00280.hp1
HG00735.hp2
HG01081.hp1
HG01167.hp1
HG01169.hp1
HG01258.hp1
HG01261.hp1
HG01891.hp2
HG02074.hp1
HG02132.hp1
HG02683.hp1
HG02723.hp2
HG02809.hp2
HG03209.hp1
HG03516.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18948.hp1
NA19030.hp2
 intron_variant MODIFIER c.1276+25252T>C
c.1276+25252T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68167667
chrX:68167721 G
G
 GTA
GTA
 1 a0001c0001t0006g0013
a0001c0001t0006g0013
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.1276+25196_1276+25
others(8): Show 
c.1276+25196_1276+25197dupTA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68167721
chrX:68167721 GTA
GTA
 G
G
 72 a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
others(69): Show 
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0013g0042
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0027g0072
a0001c0001t0030g0155
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
 72 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(69): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00735.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01891.hp2
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03098.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18948.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1276+25196_1276+25
others(8): Show 
c.1276+25196_1276+25197delTA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68167721
chrX:68167723 A
A
 G
G
 78 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(75): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0154
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0123
a0001c0001t0002g0133
a0001c0001t0003g0065
a0001c0001t0003g0081
a0001c0001t0007g0032
a0001c0001t0011g0061
a0001c0001t0015g0148
a0001c0001t0017g0036
a0001c0001t0020g0099
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0004c0005t0012g0024
 78 HG00140.hp1
HG00609.hp1
HG00621.hp1
others(75): Show 
HG00140.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01169.hp2
HG01256.hp1
HG01346.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02071.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02300.hp1
HG02602.hp1
HG02615.hp2
HG02683.hp2
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG03017.hp1
HG03130.hp1
HG03490.hp1
HG03492.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.1276+25196T>C
c.1276+25196T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68167723
chrX:68167725 A
A
 G
G
 1 a0001c0001t0002g0134
a0001c0001t0002g0134
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.1276+25194T>C
c.1276+25194T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68167725
chrX:68167795 G
G
 C
C
 1 a0001c0001t0006g0013
a0001c0001t0006g0013
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.1276+25124C>G
c.1276+25124C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68167795
chrX:68167894 T
T
 C
C
 51 a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
others(48): Show 
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0021
a0001c0001t0002g0083
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0008g0096
a0001c0001t0013g0042
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0027g0072
a0001c0001t0030g0155
a0002c0002t0001g0002
a0002c0002t0003g0001
 51 HG00099.hp1
HG00280.hp1
HG00735.hp2
others(48): Show 
HG00099.hp1
HG00280.hp1
HG00735.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01192.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01891.hp2
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02132.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02615.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp2
HG02976.hp1
HG03209.hp1
HG03471.hp1
HG03516.hp1
HG03540.hp2
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18948.hp1
NA19030.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1276+25025A>G
c.1276+25025A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68167894
chrX:68168011 G
G
 C
C
 51 a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
others(48): Show 
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0021
a0001c0001t0002g0083
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0008g0096
a0001c0001t0013g0042
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0027g0072
a0001c0001t0030g0155
a0002c0002t0001g0002
a0002c0002t0003g0001
 51 HG00099.hp1
HG00280.hp1
HG00735.hp2
others(48): Show 
HG00099.hp1
HG00280.hp1
HG00735.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01192.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01891.hp2
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02132.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02615.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp2
HG02976.hp1
HG03209.hp1
HG03471.hp1
HG03516.hp1
HG03540.hp2
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18948.hp1
NA19030.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1276+24908C>G
c.1276+24908C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68168011
chrX:68168033 T
T
 G
G
 1 a0001c0001t0004g0004
a0001c0001t0004g0004
 1 HG02109.hp1
HG02109.hp1
 intron_variant MODIFIER c.1276+24886A>C
c.1276+24886A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68168033
chrX:68168104 C
C
 A
A
 1 a0002c0002t0003g0001
a0002c0002t0003g0001
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1276+24815G>T
c.1276+24815G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68168104
chrX:68168107 T
T
 C
C
 1 a0002c0002t0003g0001
a0002c0002t0003g0001
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1276+24812A>G
c.1276+24812A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68168107
chrX:68168138 C
C
 A
A
 1 a0001c0001t0003g0122
a0001c0001t0003g0122
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.1276+24781G>T
c.1276+24781G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68168138
chrX:68168147 A
A
 G
G
 51 a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
others(48): Show 
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0021
a0001c0001t0002g0083
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0008g0096
a0001c0001t0013g0042
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0027g0072
a0001c0001t0030g0155
a0002c0002t0001g0002
a0002c0002t0003g0001
 51 HG00099.hp1
HG00280.hp1
HG00735.hp2
others(48): Show 
HG00099.hp1
HG00280.hp1
HG00735.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01192.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01891.hp2
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02132.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02615.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp2
HG02976.hp1
HG03209.hp1
HG03471.hp1
HG03516.hp1
HG03540.hp2
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18948.hp1
NA19030.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1276+24772T>C
c.1276+24772T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68168147
chrX:68168148 C
C
 T
T
 1 a0001c0001t0001g0052
a0001c0001t0001g0052
 1 HG02135.hp1
HG02135.hp1
 intron_variant MODIFIER c.1276+24771G>A
c.1276+24771G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68168148
chrX:68168223 C
C
 T
T
 29 a0001c0001t0002g0021
a0001c0001t0002g0134
a0001c0001t0003g0018
others(26): Show 
a0001c0001t0002g0021
a0001c0001t0002g0134
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0139
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0008g0096
a0001c0001t0013g0042
a0001c0001t0021g0150
a0001c0001t0030g0155
a0002c0002t0001g0002
a0002c0002t0003g0001
 29 HG01081.hp2
HG01099.hp1
HG01106.hp1
others(26): Show 
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01192.hp1
HG01346.hp2
HG01358.hp1
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02615.hp1
HG02647.hp1
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp2
HG02976.hp1
HG03471.hp1
HG03540.hp2
HG04199.hp1
NA18906.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1276+24696G>A
c.1276+24696G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68168223
chrX:68168266 C
C
 A
A
 51 a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
others(48): Show 
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0021
a0001c0001t0002g0083
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0008g0096
a0001c0001t0013g0042
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0027g0072
a0001c0001t0030g0155
a0002c0002t0001g0002
a0002c0002t0003g0001
 51 HG00099.hp1
HG00280.hp1
HG00735.hp2
others(48): Show 
HG00099.hp1
HG00280.hp1
HG00735.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01192.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01891.hp2
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02132.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02615.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp2
HG02976.hp1
HG03209.hp1
HG03471.hp1
HG03516.hp1
HG03540.hp2
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18948.hp1
NA19030.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1276+24653G>T
c.1276+24653G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68168266
chrX:68168342 A
A
 T
T
 1 a0001c0001t0005g0136
a0001c0001t0005g0136
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.1276+24577T>A
c.1276+24577T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68168342
chrX:68168426 G
G
 A
A
 1 a0001c0001t0020g0099
a0001c0001t0020g0099
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.1276+24493C>T
c.1276+24493C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68168426
chrX:68168515 T
T
 G
G
 51 a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
others(48): Show 
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0021
a0001c0001t0002g0083
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0008g0096
a0001c0001t0013g0042
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0027g0072
a0001c0001t0030g0155
a0002c0002t0001g0002
a0002c0002t0003g0001
 51 HG00099.hp1
HG00280.hp1
HG00735.hp2
others(48): Show 
HG00099.hp1
HG00280.hp1
HG00735.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01192.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01891.hp2
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02132.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02615.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp2
HG02976.hp1
HG03209.hp1
HG03471.hp1
HG03516.hp1
HG03540.hp2
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18948.hp1
NA19030.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1276+24404A>C
c.1276+24404A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68168515
chrX:68168654 A
A
 C
C
 20 a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
others(17): Show 
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0083
a0001c0001t0002g0124
a0001c0001t0002g0144
a0001c0001t0003g0113
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0022g0103
a0001c0001t0027g0072
 20 HG00099.hp1
HG00280.hp1
HG00735.hp2
others(17): Show 
HG00099.hp1
HG00280.hp1
HG00735.hp2
HG01081.hp1
HG01167.hp1
HG01169.hp1
HG01258.hp1
HG01261.hp1
HG01891.hp2
HG02074.hp1
HG02132.hp1
HG02683.hp1
HG02723.hp2
HG03209.hp1
HG03516.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18948.hp1
NA19030.hp2
 intron_variant MODIFIER c.1276+24265T>G
c.1276+24265T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68168654
chrX:68168701 T
T
 C
C
 51 a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
others(48): Show 
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0021
a0001c0001t0002g0083
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0008g0096
a0001c0001t0013g0042
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0027g0072
a0001c0001t0030g0155
a0002c0002t0001g0002
a0002c0002t0003g0001
 51 HG00099.hp1
HG00280.hp1
HG00735.hp2
others(48): Show 
HG00099.hp1
HG00280.hp1
HG00735.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01192.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01891.hp2
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02132.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02615.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp2
HG02976.hp1
HG03209.hp1
HG03471.hp1
HG03516.hp1
HG03540.hp2
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18948.hp1
NA19030.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1276+24218A>G
c.1276+24218A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68168701
chrX:68168933 AC
AC
 A
A
 1 a0001c0001t0015g0148
a0001c0001t0015g0148
 1 HG01943.hp1
HG01943.hp1
 intron_variant MODIFIER c.1276+23985delG
c.1276+23985delG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68168933
chrX:68168971 G
G
 T
T
 7 a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
others(4): Show 
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0100
a0001c0001t0013g0042
a0002c0002t0001g0002
a0002c0002t0003g0001
 7 HG01099.hp1
HG01106.hp1
HG01192.hp1
others(4): Show 
HG01099.hp1
HG01106.hp1
HG01192.hp1
HG01346.hp2
HG01358.hp1
HG04199.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1276+23948C>A
c.1276+23948C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68168971
chrX:68169016 T
T
 C
C
 51 a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
others(48): Show 
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0021
a0001c0001t0002g0083
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0008g0096
a0001c0001t0013g0042
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0027g0072
a0001c0001t0030g0155
a0002c0002t0001g0002
a0002c0002t0003g0001
 51 HG00099.hp1
HG00280.hp1
HG00735.hp2
others(48): Show 
HG00099.hp1
HG00280.hp1
HG00735.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01192.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01891.hp2
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02132.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02615.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp2
HG02976.hp1
HG03209.hp1
HG03471.hp1
HG03516.hp1
HG03540.hp2
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18948.hp1
NA19030.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1276+23903A>G
c.1276+23903A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68169016
chrX:68169056 G
G
 A
A
 1 a0001c0001t0001g0143
a0001c0001t0001g0143
 1 HG03490.hp1
HG03490.hp1
 intron_variant MODIFIER c.1276+23863C>T
c.1276+23863C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68169056
chrX:68169057 C
C
 G
G
 1 a0001c0001t0001g0143
a0001c0001t0001g0143
 1 HG03490.hp1
HG03490.hp1
 intron_variant MODIFIER c.1276+23862G>C
c.1276+23862G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68169057
chrX:68169168 T
T
 G
G
 13 a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
others(10): Show 
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0003c0004t0014g0102
 13 HG01255.hp1
HG02109.hp2
HG02145.hp1
others(10): Show 
HG01255.hp1
HG02109.hp2
HG02145.hp1
HG02886.hp1
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.1276+23751A>C
c.1276+23751A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68169168
chrX:68169227 C
C
 T
T
 30 a0001c0001t0002g0021
a0001c0001t0002g0134
a0001c0001t0003g0018
others(27): Show 
a0001c0001t0002g0021
a0001c0001t0002g0134
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0139
a0001c0001t0004g0004
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0008g0096
a0001c0001t0013g0042
a0001c0001t0021g0150
a0001c0001t0030g0155
a0002c0002t0001g0002
a0002c0002t0003g0001
 30 HG01081.hp2
HG01099.hp1
HG01106.hp1
others(27): Show 
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01192.hp1
HG01346.hp2
HG01358.hp1
HG02055.hp1
HG02109.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02615.hp1
HG02647.hp1
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp2
HG02976.hp1
HG03471.hp1
HG03540.hp2
HG04199.hp1
NA18906.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1276+23692G>A
c.1276+23692G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68169227
chrX:68169311 C
C
 G
G
 14 a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
others(11): Show 
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0005g0152
a0003c0004t0014g0102
 14 HG01255.hp1
HG02109.hp2
HG02145.hp1
others(11): Show 
HG01255.hp1
HG02109.hp2
HG02145.hp1
HG02630.hp2
HG02886.hp1
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.1276+23608G>C
c.1276+23608G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68169311
chrX:68169321 G
G
 A
A
 18 a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
others(15): Show 
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0083
a0001c0001t0002g0124
a0001c0001t0002g0144
a0001c0001t0003g0113
a0001c0001t0003g0151
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0022g0103
a0001c0001t0027g0072
 18 HG00099.hp1
HG00280.hp1
HG01081.hp1
others(15): Show 
HG00099.hp1
HG00280.hp1
HG01081.hp1
HG01167.hp1
HG01169.hp1
HG01258.hp1
HG01261.hp1
HG02074.hp1
HG02132.hp1
HG02683.hp1
HG02723.hp2
HG03209.hp1
HG03516.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18948.hp1
NA19030.hp2
 intron_variant MODIFIER c.1276+23598C>T
c.1276+23598C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68169321
chrX:68169412 C
C
 T
T
 100 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(97): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0154
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0003g0065
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0122
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0015g0148
a0001c0001t0017g0036
a0001c0001t0020g0099
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0003c0004t0014g0102
a0004c0005t0012g0024
 100 HG00099.hp2
HG00140.hp1
HG00609.hp1
others(97): Show 
HG00099.hp2
HG00140.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01169.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01346.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02071.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02135.hp1
HG02145.hp1
HG02300.hp1
HG02451.hp1
HG02559.hp1
HG02602.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp1
HG02965.hp1
HG03017.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
NA18747.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.1276+23507G>A
c.1276+23507G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68169412
chrX:68169420 G
G
 GA
GA
 1 a0001c0001t0002g0133
a0001c0001t0002g0133
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.1276+23498dupT
c.1276+23498dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68169420
chrX:68169463 G
G
 A
A
 13 a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
others(10): Show 
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0003c0004t0014g0102
 13 HG01255.hp1
HG02109.hp2
HG02145.hp1
others(10): Show 
HG01255.hp1
HG02109.hp2
HG02145.hp1
HG02886.hp1
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.1276+23456C>T
c.1276+23456C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68169463
chrX:68169517 A
A
 G
G
 44 a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
others(41): Show 
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0021
a0001c0001t0002g0083
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0008g0096
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0027g0072
a0001c0001t0030g0155
 44 HG00099.hp1
HG00280.hp1
HG00735.hp2
others(41): Show 
HG00099.hp1
HG00280.hp1
HG00735.hp2
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01258.hp1
HG01261.hp1
HG01891.hp2
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02132.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02615.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp2
HG02976.hp1
HG03209.hp1
HG03471.hp1
HG03516.hp1
HG03540.hp2
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18948.hp1
NA19030.hp2
 intron_variant MODIFIER c.1276+23402T>C
c.1276+23402T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68169517
chrX:68169572 C
C
 T
T
 1 a0002c0002t0003g0001
a0002c0002t0003g0001
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1276+23347G>A
c.1276+23347G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68169572
chrX:68169622 C
C
 T
T
 1 a0001c0001t0017g0036
a0001c0001t0017g0036
 1 HG01952.hp1
HG01952.hp1
 intron_variant MODIFIER c.1276+23297G>A
c.1276+23297G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68169622
chrX:68169626 A
A
 G
G
 150 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(147): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 150 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(147): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03017.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1276+23293T>C
c.1276+23293T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68169626
chrX:68169678 G
G
 A
A
 32 a0001c0001t0002g0021
a0001c0001t0002g0134
a0001c0001t0003g0018
others(29): Show 
a0001c0001t0002g0021
a0001c0001t0002g0134
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0139
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0008g0096
a0001c0001t0013g0042
a0001c0001t0021g0150
a0001c0001t0030g0155
a0002c0002t0001g0002
a0002c0002t0003g0001
 32 HG00735.hp2
HG01081.hp2
HG01099.hp1
others(29): Show 
HG00735.hp2
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01192.hp1
HG01346.hp2
HG01358.hp1
HG01891.hp2
HG02055.hp1
HG02109.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02615.hp1
HG02647.hp1
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp2
HG02976.hp1
HG03471.hp1
HG03540.hp2
HG04199.hp1
NA18906.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1276+23241C>T
c.1276+23241C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68169678
chrX:68169801 C
C
 A
A
 51 a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
others(48): Show 
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0021
a0001c0001t0002g0083
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0008g0096
a0001c0001t0013g0042
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0027g0072
a0001c0001t0030g0155
a0002c0002t0001g0002
a0002c0002t0003g0001
 51 HG00099.hp1
HG00280.hp1
HG00735.hp2
others(48): Show 
HG00099.hp1
HG00280.hp1
HG00735.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01192.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01891.hp2
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02132.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02615.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp2
HG02976.hp1
HG03209.hp1
HG03471.hp1
HG03516.hp1
HG03540.hp2
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18948.hp1
NA19030.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1276+23118G>T
c.1276+23118G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68169801
chrX:68169803 T
T
 C
C
 51 a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
others(48): Show 
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0021
a0001c0001t0002g0083
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0008g0096
a0001c0001t0013g0042
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0027g0072
a0001c0001t0030g0155
a0002c0002t0001g0002
a0002c0002t0003g0001
 51 HG00099.hp1
HG00280.hp1
HG00735.hp2
others(48): Show 
HG00099.hp1
HG00280.hp1
HG00735.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01192.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01891.hp2
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02132.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02615.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp2
HG02976.hp1
HG03209.hp1
HG03471.hp1
HG03516.hp1
HG03540.hp2
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18948.hp1
NA19030.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1276+23116A>G
c.1276+23116A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68169803
chrX:68169907 C
C
 T
T
 2 a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0105
a0001c0001t0006g0106
 2 HG02647.hp1
HG02886.hp2
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.1276+23012G>A
c.1276+23012G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68169907
chrX:68169916 A
A
 C
C
 21 a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
others(18): Show 
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0091
a0001c0001t0003g0122
a0001c0001t0005g0152
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0003c0004t0014g0102
 21 HG00099.hp2
HG01243.hp1
HG01255.hp1
others(18): Show 
HG00099.hp2
HG01243.hp1
HG01255.hp1
HG02109.hp2
HG02145.hp1
HG02451.hp1
HG02559.hp1
HG02630.hp2
HG02818.hp2
HG02886.hp1
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
NA18906.hp2
NA19030.hp1
NA19043.hp1
 intron_variant MODIFIER c.1276+23003T>G
c.1276+23003T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68169916
chrX:68169986 G
G
 A
A
 14 a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
others(11): Show 
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0005g0152
a0003c0004t0014g0102
 14 HG01255.hp1
HG02109.hp2
HG02145.hp1
others(11): Show 
HG01255.hp1
HG02109.hp2
HG02145.hp1
HG02630.hp2
HG02886.hp1
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.1276+22933C>T
c.1276+22933C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68169986
chrX:68170168 A
A
 G
G
 1 a0001c0001t0022g0103
a0001c0001t0022g0103
 1 HG01081.hp1
HG01081.hp1
 intron_variant MODIFIER c.1276+22751T>C
c.1276+22751T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68170168
chrX:68170212 C
C
 A
A
 14 a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
others(11): Show 
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0005g0152
a0003c0004t0014g0102
 14 HG01255.hp1
HG02109.hp2
HG02145.hp1
others(11): Show 
HG01255.hp1
HG02109.hp2
HG02145.hp1
HG02630.hp2
HG02886.hp1
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.1276+22707G>T
c.1276+22707G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68170212
chrX:68170259 A
A
 G
G
 32 a0001c0001t0002g0021
a0001c0001t0002g0134
a0001c0001t0003g0018
others(29): Show 
a0001c0001t0002g0021
a0001c0001t0002g0134
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0139
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0008g0096
a0001c0001t0013g0042
a0001c0001t0021g0150
a0001c0001t0030g0155
a0002c0002t0001g0002
a0002c0002t0003g0001
 32 HG00735.hp2
HG01081.hp2
HG01099.hp1
others(29): Show 
HG00735.hp2
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01192.hp1
HG01346.hp2
HG01358.hp1
HG01891.hp2
HG02055.hp1
HG02109.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02615.hp1
HG02647.hp1
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp2
HG02976.hp1
HG03471.hp1
HG03540.hp2
HG04199.hp1
NA18906.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1276+22660T>C
c.1276+22660T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68170259
chrX:68170338 T
T
 A
A
 1 a0001c0001t0020g0099
a0001c0001t0020g0099
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.1276+22581A>T
c.1276+22581A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68170338
chrX:68170374 C
C
 T
T
 7 a0001c0001t0003g0091
a0001c0001t0003g0122
a0001c0001t0007g0023
others(4): Show 
a0001c0001t0003g0091
a0001c0001t0003g0122
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
 7 HG00099.hp2
HG01243.hp1
HG02451.hp1
others(4): Show 
HG00099.hp2
HG01243.hp1
HG02451.hp1
HG02559.hp1
HG02818.hp2
NA19030.hp1
NA19043.hp1
 intron_variant MODIFIER c.1276+22545G>A
c.1276+22545G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68170374
chrX:68170456 T
T
 C
C
 14 a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
others(11): Show 
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0005g0152
a0003c0004t0014g0102
 14 HG01255.hp1
HG02109.hp2
HG02145.hp1
others(11): Show 
HG01255.hp1
HG02109.hp2
HG02145.hp1
HG02630.hp2
HG02886.hp1
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.1276+22463A>G
c.1276+22463A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68170456
chrX:68170483 G
G
 A
A
 14 a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
others(11): Show 
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0005g0152
a0003c0004t0014g0102
 14 HG01255.hp1
HG02109.hp2
HG02145.hp1
others(11): Show 
HG01255.hp1
HG02109.hp2
HG02145.hp1
HG02630.hp2
HG02886.hp1
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.1276+22436C>T
c.1276+22436C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68170483
chrX:68170628 G
G
 A
A
 2 a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0128
a0001c0001t0009g0129
 2 HG01243.hp1
HG02451.hp1
HG01243.hp1
HG02451.hp1
 intron_variant MODIFIER c.1276+22291C>T
c.1276+22291C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68170628
chrX:68170682 C
C
 CA
CA
 1 a0001c0001t0015g0148
a0001c0001t0015g0148
 1 HG01943.hp1
HG01943.hp1
 intron_variant MODIFIER c.1276+22236dupT
c.1276+22236dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68170682
chrX:68170699 G
G
 A
A
 1 a0001c0001t0001g0075
a0001c0001t0001g0075
 1 NA18977.hp1
NA18977.hp1
 intron_variant MODIFIER c.1276+22220C>T
c.1276+22220C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68170699
chrX:68170738 C
C
 T
T
 1 a0001c0001t0007g0032
a0001c0001t0007g0032
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.1276+22181G>A
c.1276+22181G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68170738
chrX:68170794 A
A
 AG
AG
 5 a0001c0001t0002g0115
a0001c0001t0002g0123
a0001c0001t0020g0099
others(2): Show 
a0001c0001t0002g0115
a0001c0001t0002g0123
a0001c0001t0020g0099
a0001c0001t0023g0037
a0001c0003t0010g0089
 5 HG00738.hp1
HG02027.hp1
HG02145.hp1
others(2): Show 
HG00738.hp1
HG02027.hp1
HG02145.hp1
HG03688.hp1
HG04115.hp1
 intron_variant MODIFIER c.1276+22124dupC
c.1276+22124dupC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68170794
chrX:68170822 A
A
 G
G
 19 a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
others(16): Show 
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0083
a0001c0001t0002g0124
a0001c0001t0002g0144
a0001c0001t0003g0113
a0001c0001t0003g0151
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0022g0103
a0001c0001t0027g0072
 19 HG00099.hp1
HG00280.hp1
HG01081.hp1
others(16): Show 
HG00099.hp1
HG00280.hp1
HG01081.hp1
HG01167.hp1
HG01169.hp1
HG01258.hp1
HG01261.hp1
HG02074.hp1
HG02132.hp1
HG02683.hp1
HG02723.hp2
HG02809.hp2
HG03209.hp1
HG03516.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18948.hp1
NA19030.hp2
 intron_variant MODIFIER c.1276+22097T>C
c.1276+22097T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68170822
chrX:68170861 A
A
 G
G
 1 a0001c0001t0001g0029
a0001c0001t0001g0029
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.1276+22058T>C
c.1276+22058T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68170861
chrX:68170880 T
T
 C
C
 7 a0001c0001t0003g0091
a0001c0001t0003g0122
a0001c0001t0007g0023
others(4): Show 
a0001c0001t0003g0091
a0001c0001t0003g0122
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
 7 HG00099.hp2
HG01243.hp1
HG02451.hp1
others(4): Show 
HG00099.hp2
HG01243.hp1
HG02451.hp1
HG02559.hp1
HG02818.hp2
NA19030.hp1
NA19043.hp1
 intron_variant MODIFIER c.1276+22039A>G
c.1276+22039A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68170880
chrX:68171290 TA
TA
 T
T
 1 a0001c0001t0019g0003
a0001c0001t0019g0003
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.1276+21628delT
c.1276+21628delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68171290
chrX:68171379 G
G
 GA
GA
 1 a0001c0001t0015g0148
a0001c0001t0015g0148
 1 HG01943.hp1
HG01943.hp1
 intron_variant MODIFIER c.1276+21539dupT
c.1276+21539dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68171379
chrX:68171440 C
C
 T
T
 150 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(147): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 150 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(147): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03017.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1276+21479G>A
c.1276+21479G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68171440
chrX:68171441 AG
AG
 A
A
 49 a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
others(46): Show 
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0021
a0001c0001t0002g0083
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0008g0096
a0001c0001t0013g0042
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0027g0072
a0001c0001t0030g0155
a0002c0002t0001g0002
a0002c0002t0003g0001
 49 HG00099.hp1
HG00280.hp1
HG00735.hp2
others(46): Show 
HG00099.hp1
HG00280.hp1
HG00735.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01192.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01891.hp2
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02132.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02615.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02922.hp2
HG02976.hp1
HG03209.hp1
HG03471.hp1
HG03516.hp1
HG03540.hp2
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18948.hp1
NA19030.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1276+21477delC
c.1276+21477delC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68171441
chrX:68171508 G
G
 C
C
 19 a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
others(16): Show 
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0083
a0001c0001t0002g0124
a0001c0001t0002g0144
a0001c0001t0003g0113
a0001c0001t0003g0151
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0022g0103
a0001c0001t0027g0072
 19 HG00099.hp1
HG00280.hp1
HG01081.hp1
others(16): Show 
HG00099.hp1
HG00280.hp1
HG01081.hp1
HG01167.hp1
HG01169.hp1
HG01258.hp1
HG01261.hp1
HG02074.hp1
HG02132.hp1
HG02683.hp1
HG02723.hp2
HG02809.hp2
HG03209.hp1
HG03516.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18948.hp1
NA19030.hp2
 intron_variant MODIFIER c.1276+21411C>G
c.1276+21411C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68171508
chrX:68171742 T
T
 TA
TA
 31 a0001c0001t0002g0021
a0001c0001t0002g0134
a0001c0001t0003g0018
others(28): Show 
a0001c0001t0002g0021
a0001c0001t0002g0134
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0139
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0006g0013
a0001c0001t0008g0096
a0001c0001t0013g0042
a0001c0001t0021g0150
a0001c0001t0030g0155
a0002c0002t0001g0002
a0002c0002t0003g0001
 31 HG00735.hp2
HG01081.hp2
HG01099.hp1
others(28): Show 
HG00735.hp2
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01192.hp1
HG01346.hp2
HG01358.hp1
HG01891.hp2
HG02055.hp1
HG02109.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02615.hp1
HG02630.hp1
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02895.hp1
HG02922.hp2
HG02976.hp1
HG03471.hp1
HG03540.hp2
HG04199.hp1
NA18906.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1276+21176dupT
c.1276+21176dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68171742
chrX:68171742 TA
TA
 T
T
 1 a0001c0001t0015g0148
a0001c0001t0015g0148
 1 HG01943.hp1
HG01943.hp1
 intron_variant MODIFIER c.1276+21176delT
c.1276+21176delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68171742
chrX:68171803 T
T
 C
C
 1 a0001c0001t0002g0014
a0001c0001t0002g0014
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.1276+21116A>G
c.1276+21116A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68171803
chrX:68171939 T
T
 C
C
 2 a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0011
a0001c0001t0004g0012
 2 HG02280.hp2
HG02922.hp2
HG02280.hp2
HG02922.hp2
 intron_variant MODIFIER c.1276+20980A>G
c.1276+20980A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68171939
chrX:68172020 A
A
 G
G
 150 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(147): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 150 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(147): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03017.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1276+20899T>C
c.1276+20899T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68172020
chrX:68172037 C
C
 A
A
 1 a0001c0001t0002g0057
a0001c0001t0002g0057
 1 NA19012.hp1
NA19012.hp1
 intron_variant MODIFIER c.1276+20882G>T
c.1276+20882G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68172037
chrX:68172101 G
G
 A
A
 5 a0001c0001t0001g0009
a0001c0001t0001g0098
a0001c0001t0001g0132
others(2): Show 
a0001c0001t0001g0009
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0011g0061
 5 HG01069.hp1
NA18955.hp1
NA18966.hp1
others(2): Show 
HG01069.hp1
NA18955.hp1
NA18966.hp1
NA18982.hp1
NA18995.hp1
 intron_variant MODIFIER c.1276+20818C>T
c.1276+20818C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68172101
chrX:68172611 T
T
 TA
TA
 1 a0001c0001t0015g0148
a0001c0001t0015g0148
 1 HG01943.hp1
HG01943.hp1
 intron_variant MODIFIER c.1276+20307dupT
c.1276+20307dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68172611
chrX:68172823 G
G
 A
A
 48 a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
others(45): Show 
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0021
a0001c0001t0002g0083
a0001c0001t0002g0124
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0008g0096
a0001c0001t0013g0042
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0027g0072
a0001c0001t0030g0155
a0002c0002t0001g0002
a0002c0002t0003g0001
 48 HG00099.hp1
HG00280.hp1
HG00735.hp2
others(45): Show 
HG00099.hp1
HG00280.hp1
HG00735.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01192.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01891.hp2
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02132.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02615.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02922.hp2
HG02976.hp1
HG03209.hp1
HG03471.hp1
HG03516.hp1
HG03540.hp2
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18948.hp1
NA19030.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1276+20096C>T
c.1276+20096C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68172823
chrX:68172827 T
T
 G
G
 1 a0001c0001t0003g0109
a0001c0001t0003g0109
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.1276+20092A>C
c.1276+20092A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68172827
chrX:68173244 C
C
 T
T
 28 a0001c0001t0002g0021
a0001c0001t0002g0134
a0001c0001t0003g0018
others(25): Show 
a0001c0001t0002g0021
a0001c0001t0002g0134
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0139
a0001c0001t0004g0004
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0008g0096
a0001c0001t0013g0042
a0001c0001t0021g0150
a0001c0001t0030g0155
a0002c0002t0001g0002
a0002c0002t0003g0001
 28 HG01081.hp2
HG01099.hp1
HG01106.hp1
others(25): Show 
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01192.hp1
HG01346.hp2
HG01358.hp1
HG02055.hp1
HG02109.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02615.hp1
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02895.hp1
HG02922.hp2
HG02976.hp1
HG03471.hp1
HG03540.hp2
HG04199.hp1
NA18906.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1276+19675G>A
c.1276+19675G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68173244
chrX:68173299 C
C
 T
T
 49 a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
others(46): Show 
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0021
a0001c0001t0002g0083
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0008g0096
a0001c0001t0013g0042
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0027g0072
a0001c0001t0030g0155
a0002c0002t0001g0002
a0002c0002t0003g0001
 49 HG00099.hp1
HG00280.hp1
HG00735.hp2
others(46): Show 
HG00099.hp1
HG00280.hp1
HG00735.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01192.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01891.hp2
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02132.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02615.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02922.hp2
HG02976.hp1
HG03209.hp1
HG03471.hp1
HG03516.hp1
HG03540.hp2
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18948.hp1
NA19030.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1276+19620G>A
c.1276+19620G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68173299
chrX:68173421 T
T
 C
C
 1 a0001c0001t0003g0100
a0001c0001t0003g0100
 1 HG01106.hp1
HG01106.hp1
 intron_variant MODIFIER c.1276+19498A>G
c.1276+19498A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68173421
chrX:68173437 C
C
 CG
CG
 1 a0001c0001t0015g0148
a0001c0001t0015g0148
 1 HG01943.hp1
HG01943.hp1
 intron_variant MODIFIER c.1276+19481dupC
c.1276+19481dupC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68173437
chrX:68173527 G
G
 T
T
 1 a0001c0001t0001g0090
a0001c0001t0001g0090
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.1276+19392C>A
c.1276+19392C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68173527
chrX:68173545 A
A
 G
G
 2 a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0007g0023
a0001c0001t0007g0033
 2 HG02559.hp1
NA19030.hp1
HG02559.hp1
NA19030.hp1
 intron_variant MODIFIER c.1276+19374T>C
c.1276+19374T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68173545
chrX:68173747 T
T
 C
C
 1 a0001c0001t0001g0046
a0001c0001t0001g0046
 1 HG01928.hp1
HG01928.hp1
 intron_variant MODIFIER c.1276+19172A>G
c.1276+19172A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68173747
chrX:68173769 A
A
 C
C
 51 a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
others(48): Show 
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0021
a0001c0001t0002g0083
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0008g0096
a0001c0001t0013g0042
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0027g0072
a0001c0001t0030g0155
a0002c0002t0001g0002
a0002c0002t0003g0001
 51 HG00099.hp1
HG00280.hp1
HG00735.hp2
others(48): Show 
HG00099.hp1
HG00280.hp1
HG00735.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01192.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01891.hp2
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02132.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02615.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp2
HG02976.hp1
HG03209.hp1
HG03471.hp1
HG03516.hp1
HG03540.hp2
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18948.hp1
NA19030.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1276+19150T>G
c.1276+19150T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68173769
chrX:68173976 T
T
 TG
TG
 8 a0001c0001t0001g0090
a0001c0001t0002g0019
a0001c0001t0002g0047
others(5): Show 
a0001c0001t0001g0090
a0001c0001t0002g0019
a0001c0001t0002g0047
a0001c0001t0002g0057
a0001c0001t0002g0123
a0001c0001t0002g0125
a0001c0001t0007g0033
a0001c0003t0010g0089
 8 HG00673.hp1
HG01255.hp1
HG01433.hp1
others(5): Show 
HG00673.hp1
HG01255.hp1
HG01433.hp1
HG02027.hp1
HG02109.hp2
HG03688.hp1
NA19012.hp1
NA19030.hp1
 intron_variant MODIFIER c.1276+18942dupC
c.1276+18942dupC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68173976
chrX:68174371 T
T
 C
C
 30 a0001c0001t0002g0021
a0001c0001t0002g0134
a0001c0001t0003g0018
others(27): Show 
a0001c0001t0002g0021
a0001c0001t0002g0134
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0139
a0001c0001t0004g0004
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0008g0096
a0001c0001t0013g0042
a0001c0001t0021g0150
a0001c0001t0030g0155
a0002c0002t0001g0002
a0002c0002t0003g0001
 30 HG01081.hp2
HG01099.hp1
HG01106.hp1
others(27): Show 
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01192.hp1
HG01346.hp2
HG01358.hp1
HG02055.hp1
HG02109.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02615.hp1
HG02647.hp1
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp2
HG02976.hp1
HG03471.hp1
HG03540.hp2
HG04199.hp1
NA18906.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1276+18548A>G
c.1276+18548A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68174371
chrX:68174466 A
A
 C
C
 1 a0001c0001t0001g0008
a0001c0001t0001g0008
 1 HG01346.hp1
HG01346.hp1
 intron_variant MODIFIER c.1276+18453T>G
c.1276+18453T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68174466
chrX:68174467 TTC
TTC
 T
T
 1 a0001c0001t0001g0008
a0001c0001t0001g0008
 1 HG01346.hp1
HG01346.hp1
 intron_variant MODIFIER c.1276+18450_1276+18
others(8): Show 
c.1276+18450_1276+18451delGA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68174467
chrX:68174469 C
C
 CT
CT
 134 a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
others(131): Show 
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 134 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(131): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp1
NA19060.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1276+18449dupA
c.1276+18449dupA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68174469
chrX:68174469 C
C
 CTT
CTT
 5 a0001c0001t0001g0038
a0001c0001t0001g0090
a0001c0001t0001g0145
others(2): Show 
a0001c0001t0001g0038
a0001c0001t0001g0090
a0001c0001t0001g0145
a0001c0001t0002g0144
a0001c0001t0003g0122
 5 HG01433.hp1
HG02132.hp1
HG02602.hp1
others(2): Show 
HG01433.hp1
HG02132.hp1
HG02602.hp1
NA18944.hp1
NA19043.hp1
 intron_variant MODIFIER c.1276+18448_1276+18
others(8): Show 
c.1276+18448_1276+18449dupAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68174469
chrX:68174469 CTT
CTT
 C
C
 1 a0001c0001t0006g0013
a0001c0001t0006g0013
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.1276+18448_1276+18
others(8): Show 
c.1276+18448_1276+18449delAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68174469
chrX:68174549 G
G
 A
A
 1 a0001c0001t0005g0107
a0001c0001t0005g0107
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.1276+18370C>T
c.1276+18370C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68174549
chrX:68175021 T
T
 C
C
 1 a0001c0001t0003g0101
a0001c0001t0003g0101
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.1276+17898A>G
c.1276+17898A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68175021
chrX:68175082 C
C
 CA
CA
 1 a0001c0001t0015g0148
a0001c0001t0015g0148
 1 HG01943.hp1
HG01943.hp1
 intron_variant MODIFIER c.1276+17836dupT
c.1276+17836dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68175082
chrX:68175093 G
G
 GA
GA
 1 a0001c0001t0002g0123
a0001c0001t0002g0123
 1 HG02027.hp1
HG02027.hp1
 intron_variant MODIFIER c.1276+17825dupT
c.1276+17825dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68175093
chrX:68175101 A
A
 G
G
 21 a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
others(18): Show 
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0083
a0001c0001t0002g0124
a0001c0001t0002g0144
a0001c0001t0003g0113
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0022g0103
a0001c0001t0027g0072
 21 HG00099.hp1
HG00280.hp1
HG00735.hp2
others(18): Show 
HG00099.hp1
HG00280.hp1
HG00735.hp2
HG01081.hp1
HG01167.hp1
HG01169.hp1
HG01258.hp1
HG01261.hp1
HG01891.hp2
HG02074.hp1
HG02132.hp1
HG02683.hp1
HG02723.hp2
HG02809.hp2
HG03209.hp1
HG03516.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18948.hp1
NA19030.hp2
 intron_variant MODIFIER c.1276+17818T>C
c.1276+17818T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68175101
chrX:68175312 GA
GA
 G
G
 1 a0001c0001t0015g0148
a0001c0001t0015g0148
 1 HG01943.hp1
HG01943.hp1
 intron_variant MODIFIER c.1276+17606delT
c.1276+17606delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68175312
chrX:68175457 G
G
 GA
GA
 1 a0001c0001t0004g0004
a0001c0001t0004g0004
 1 HG02109.hp1
HG02109.hp1
 intron_variant MODIFIER c.1276+17461dupT
c.1276+17461dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68175457
chrX:68175697 C
C
 G
G
 19 a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
others(16): Show 
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0083
a0001c0001t0002g0124
a0001c0001t0002g0144
a0001c0001t0003g0113
a0001c0001t0003g0151
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0022g0103
a0001c0001t0027g0072
 19 HG00099.hp1
HG00280.hp1
HG01081.hp1
others(16): Show 
HG00099.hp1
HG00280.hp1
HG01081.hp1
HG01167.hp1
HG01169.hp1
HG01258.hp1
HG01261.hp1
HG02074.hp1
HG02132.hp1
HG02683.hp1
HG02723.hp2
HG02809.hp2
HG03209.hp1
HG03516.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18948.hp1
NA19030.hp2
 intron_variant MODIFIER c.1276+17222G>C
c.1276+17222G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68175697
chrX:68175837 G
G
 A
A
 3 a0001c0001t0001g0009
a0001c0001t0001g0140
a0001c0001t0011g0061
a0001c0001t0001g0009
a0001c0001t0001g0140
a0001c0001t0011g0061
 3 NA18966.hp1
NA18982.hp1
NA18995.hp1
NA18966.hp1
NA18982.hp1
NA18995.hp1
 intron_variant MODIFIER c.1276+17082C>T
c.1276+17082C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68175837
chrX:68176161 T
T
 A
A
 21 a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
others(18): Show 
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0083
a0001c0001t0002g0124
a0001c0001t0002g0144
a0001c0001t0003g0113
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0022g0103
a0001c0001t0027g0072
 21 HG00099.hp1
HG00280.hp1
HG00735.hp2
others(18): Show 
HG00099.hp1
HG00280.hp1
HG00735.hp2
HG01081.hp1
HG01167.hp1
HG01169.hp1
HG01258.hp1
HG01261.hp1
HG01891.hp2
HG02074.hp1
HG02132.hp1
HG02683.hp1
HG02723.hp2
HG02809.hp2
HG03209.hp1
HG03516.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18948.hp1
NA19030.hp2
 intron_variant MODIFIER c.1276+16758A>T
c.1276+16758A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68176161
chrX:68176221 G
G
 A
A
 7 a0001c0001t0003g0091
a0001c0001t0003g0122
a0001c0001t0007g0023
others(4): Show 
a0001c0001t0003g0091
a0001c0001t0003g0122
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
 7 HG00099.hp2
HG01243.hp1
HG02451.hp1
others(4): Show 
HG00099.hp2
HG01243.hp1
HG02451.hp1
HG02559.hp1
HG02818.hp2
NA19030.hp1
NA19043.hp1
 intron_variant MODIFIER c.1276+16698C>T
c.1276+16698C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68176221
chrX:68176349 C
C
 A
A
 1 a0001c0001t0001g0015
a0001c0001t0001g0015
 1 NA19004.hp1
NA19004.hp1
 intron_variant MODIFIER c.1276+16570G>T
c.1276+16570G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68176349
chrX:68176398 G
G
 T
T
 1 a0001c0001t0006g0013
a0001c0001t0006g0013
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.1276+16521C>A
c.1276+16521C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68176398
chrX:68176580 T
T
 C
C
 49 a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
others(46): Show 
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0021
a0001c0001t0002g0083
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0008g0096
a0001c0001t0013g0042
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0027g0072
a0001c0001t0030g0155
a0002c0002t0001g0002
a0002c0002t0003g0001
 49 HG00099.hp1
HG00280.hp1
HG00735.hp2
others(46): Show 
HG00099.hp1
HG00280.hp1
HG00735.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01192.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01891.hp2
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02132.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02615.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02922.hp2
HG02976.hp1
HG03209.hp1
HG03471.hp1
HG03516.hp1
HG03540.hp2
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18948.hp1
NA19030.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1276+16339A>G
c.1276+16339A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68176580
chrX:68176598 G
G
 A
A
 1 a0001c0001t0001g0146
a0001c0001t0001g0146
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.1276+16321C>T
c.1276+16321C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68176598
chrX:68176683 G
G
 A
A
 29 a0001c0001t0002g0021
a0001c0001t0003g0018
a0001c0001t0003g0020
others(26): Show 
a0001c0001t0002g0021
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0139
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0008g0096
a0001c0001t0013g0042
a0001c0001t0021g0150
a0001c0001t0030g0155
a0002c0002t0001g0002
a0002c0002t0003g0001
 29 HG00735.hp2
HG01081.hp2
HG01099.hp1
others(26): Show 
HG00735.hp2
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01192.hp1
HG01346.hp2
HG01358.hp1
HG01891.hp2
HG02055.hp1
HG02109.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02615.hp1
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02895.hp1
HG02922.hp2
HG02976.hp1
HG03471.hp1
HG03540.hp2
HG04199.hp1
NA18906.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1276+16236C>T
c.1276+16236C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68176683
chrX:68176964 T
T
 C
C
 1 a0001c0001t0005g0152
a0001c0001t0005g0152
 1 HG02630.hp2
HG02630.hp2
 intron_variant MODIFIER c.1276+15955A>G
c.1276+15955A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68176964
chrX:68176973 C
C
 CAT
CAT
 9 a0001c0001t0001g0077
a0001c0001t0003g0091
a0001c0001t0003g0111
others(6): Show 
a0001c0001t0001g0077
a0001c0001t0003g0091
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
 9 HG00099.hp2
HG01243.hp1
HG02071.hp1
others(6): Show 
HG00099.hp2
HG01243.hp1
HG02071.hp1
HG02451.hp1
HG02559.hp1
HG02572.hp1
HG02818.hp2
HG02976.hp2
NA19030.hp1
 intron_variant MODIFIER c.1276+15944_1276+15
others(8): Show 
c.1276+15944_1276+15945dupAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68176973
chrX:68176973 C
C
 CATAT
CATAT
 13 a0001c0001t0002g0021
a0001c0001t0002g0134
a0001c0001t0003g0018
others(10): Show 
a0001c0001t0002g0021
a0001c0001t0002g0134
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0109
a0001c0001t0003g0139
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0006g0013
a0001c0001t0030g0155
 13 HG02257.hp2
HG02258.hp1
HG02280.hp1
others(10): Show 
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02486.hp1
HG02559.hp2
HG02615.hp1
HG02630.hp1
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02895.hp1
HG02976.hp1
HG03540.hp2
 intron_variant MODIFIER c.1276+15942_1276+15
others(10): Show 
c.1276+15942_1276+15945dupATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68176973
chrX:68176973 C
C
 CATATAT
CATATAT
 9 a0001c0001t0003g0122
a0001c0001t0004g0005
a0001c0001t0004g0010
others(6): Show 
a0001c0001t0003g0122
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0117
a0001c0001t0021g0150
 9 HG00735.hp2
HG01081.hp2
HG01891.hp2
others(6): Show 
HG00735.hp2
HG01081.hp2
HG01891.hp2
HG02055.hp1
HG02280.hp2
HG02451.hp2
HG02922.hp2
HG03471.hp1
NA19043.hp1
 intron_variant MODIFIER c.1276+15940_1276+15
others(12): Show 
c.1276+15940_1276+15945dupATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68176973
chrX:68176973 C
C
 CATATATA
others(1): Show 
CATATATAT
 7 a0001c0001t0003g0063
a0001c0001t0003g0100
a0001c0001t0004g0004
others(4): Show 
a0001c0001t0003g0063
a0001c0001t0003g0100
a0001c0001t0004g0004
a0001c0001t0004g0026
a0001c0001t0008g0096
a0002c0002t0001g0002
a0002c0002t0003g0001
 7 HG01106.hp1
HG01358.hp1
HG02109.hp1
others(4): Show 
HG01106.hp1
HG01358.hp1
HG02109.hp1
HG02257.hp1
HG04199.hp1
NA18906.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1276+15938_1276+15
others(14): Show 
c.1276+15938_1276+15945dupATATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68176973
chrX:68176973 C
C
 CATATATA
others(3): Show 
CATATATATAT
 3 a0001c0001t0003g0035
a0001c0001t0003g0076
a0001c0001t0013g0042
a0001c0001t0003g0035
a0001c0001t0003g0076
a0001c0001t0013g0042
 3 HG01099.hp1
HG01192.hp1
HG01346.hp2
HG01099.hp1
HG01192.hp1
HG01346.hp2
 intron_variant MODIFIER c.1276+15936_1276+15
others(16): Show 
c.1276+15936_1276+15945dupATATATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68176973
chrX:68176973 CAT
CAT
 C
C
 24 a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
others(21): Show 
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0083
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0144
a0001c0001t0003g0113
a0001c0001t0003g0151
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0152
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0032
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0027g0072
a0001c0001t0028g0084
 24 HG00099.hp1
HG00280.hp1
HG00738.hp1
others(21): Show 
HG00099.hp1
HG00280.hp1
HG00738.hp1
HG01081.hp1
HG01167.hp1
HG01169.hp1
HG01258.hp1
HG01261.hp1
HG02027.hp1
HG02074.hp1
HG02132.hp1
HG02630.hp2
HG02683.hp1
HG02723.hp2
HG02809.hp2
HG03130.hp1
HG03209.hp1
HG03516.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18948.hp1
NA19030.hp2
NA19070.hp1
 intron_variant MODIFIER c.1276+15944_1276+15
others(8): Show 
c.1276+15944_1276+15945delAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68176973
chrX:68177192 A
A
 G
G
 7 a0001c0001t0003g0091
a0001c0001t0003g0122
a0001c0001t0007g0023
others(4): Show 
a0001c0001t0003g0091
a0001c0001t0003g0122
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
 7 HG00099.hp2
HG01243.hp1
HG02451.hp1
others(4): Show 
HG00099.hp2
HG01243.hp1
HG02451.hp1
HG02559.hp1
HG02818.hp2
NA19030.hp1
NA19043.hp1
 intron_variant MODIFIER c.1276+15727T>C
c.1276+15727T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68177192
chrX:68177383 TA
TA
 T
T
 30 a0001c0001t0002g0021
a0001c0001t0002g0134
a0001c0001t0003g0018
others(27): Show 
a0001c0001t0002g0021
a0001c0001t0002g0134
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0139
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0008g0096
a0001c0001t0013g0042
a0001c0001t0021g0150
a0001c0001t0030g0155
a0002c0002t0001g0002
a0002c0002t0003g0001
 30 HG00735.hp2
HG01081.hp2
HG01099.hp1
others(27): Show 
HG00735.hp2
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01192.hp1
HG01346.hp2
HG01358.hp1
HG01891.hp2
HG02055.hp1
HG02109.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02615.hp1
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02895.hp1
HG02922.hp2
HG02976.hp1
HG03471.hp1
HG03540.hp2
HG04199.hp1
NA18906.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1276+15535delT
c.1276+15535delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68177383
chrX:68177443 T
T
 G
G
 3 a0001c0001t0003g0091
a0001c0001t0003g0122
a0001c0001t0008g0112
a0001c0001t0003g0091
a0001c0001t0003g0122
a0001c0001t0008g0112
 3 HG00099.hp2
HG02818.hp2
NA19043.hp1
HG00099.hp2
HG02818.hp2
NA19043.hp1
 intron_variant MODIFIER c.1276+15476A>C
c.1276+15476A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68177443
chrX:68177500 TTA
TTA
 T
T
 1 a0001c0001t0001g0062
a0001c0001t0001g0062
 1 NA19009.hp1
NA19009.hp1
 intron_variant MODIFIER c.1276+15417_1276+15
others(8): Show 
c.1276+15417_1276+15418delTA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68177500
chrX:68177537 T
T
 TA
TA
 1 a0001c0001t0002g0133
a0001c0001t0002g0133
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.1276+15381dupT
c.1276+15381dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68177537
chrX:68177537 TA
TA
 T
T
 56 a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
others(53): Show 
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0021
a0001c0001t0002g0083
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0013g0042
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0027g0072
a0001c0001t0030g0155
a0002c0002t0001g0002
a0002c0002t0003g0001
 56 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(53): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00735.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01192.hp1
HG01243.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01891.hp2
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02132.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp2
HG02976.hp1
HG03209.hp1
HG03471.hp1
HG03516.hp1
HG03540.hp2
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18948.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1276+15381delT
c.1276+15381delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68177537
chrX:68177570 T
T
 C
C
 51 a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
others(48): Show 
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0021
a0001c0001t0002g0083
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0008g0096
a0001c0001t0013g0042
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0027g0072
a0001c0001t0030g0155
a0002c0002t0001g0002
a0002c0002t0003g0001
 51 HG00099.hp1
HG00280.hp1
HG00735.hp2
others(48): Show 
HG00099.hp1
HG00280.hp1
HG00735.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01192.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01891.hp2
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02132.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02615.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp2
HG02976.hp1
HG03209.hp1
HG03471.hp1
HG03516.hp1
HG03540.hp2
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18948.hp1
NA19030.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1276+15349A>G
c.1276+15349A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68177570
chrX:68177607 C
C
 T
T
 1 a0001c0001t0003g0101
a0001c0001t0003g0101
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.1276+15312G>A
c.1276+15312G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68177607
chrX:68177691 AAG
AAG
 A
A
 1 a0001c0001t0005g0138
a0001c0001t0005g0138
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.1276+15226_1276+15
others(8): Show 
c.1276+15226_1276+15227delCT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68177691
chrX:68177797 G
G
 A
A
 19 a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
others(16): Show 
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0083
a0001c0001t0002g0124
a0001c0001t0002g0144
a0001c0001t0003g0113
a0001c0001t0003g0151
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0022g0103
a0001c0001t0027g0072
 19 HG00099.hp1
HG00280.hp1
HG01081.hp1
others(16): Show 
HG00099.hp1
HG00280.hp1
HG01081.hp1
HG01167.hp1
HG01169.hp1
HG01258.hp1
HG01261.hp1
HG02074.hp1
HG02132.hp1
HG02683.hp1
HG02723.hp2
HG02809.hp2
HG03209.hp1
HG03516.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18948.hp1
NA19030.hp2
 intron_variant MODIFIER c.1276+15122C>T
c.1276+15122C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68177797
chrX:68177837 C
C
 T
T
 19 a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
others(16): Show 
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0083
a0001c0001t0002g0124
a0001c0001t0002g0144
a0001c0001t0003g0113
a0001c0001t0003g0151
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0022g0103
a0001c0001t0027g0072
 19 HG00099.hp1
HG00280.hp1
HG01081.hp1
others(16): Show 
HG00099.hp1
HG00280.hp1
HG01081.hp1
HG01167.hp1
HG01169.hp1
HG01258.hp1
HG01261.hp1
HG02074.hp1
HG02132.hp1
HG02683.hp1
HG02723.hp2
HG02809.hp2
HG03209.hp1
HG03516.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18948.hp1
NA19030.hp2
 intron_variant MODIFIER c.1276+15082G>A
c.1276+15082G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68177837
chrX:68177861 G
G
 A
A
 1 a0001c0001t0003g0109
a0001c0001t0003g0109
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.1276+15058C>T
c.1276+15058C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68177861
chrX:68178060 C
C
 T
T
 14 a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
others(11): Show 
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0005g0152
a0003c0004t0014g0102
 14 HG01255.hp1
HG02109.hp2
HG02145.hp1
others(11): Show 
HG01255.hp1
HG02109.hp2
HG02145.hp1
HG02630.hp2
HG02886.hp1
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.1276+14859G>A
c.1276+14859G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68178060
chrX:68178119 T
T
 C
C
 1 a0001c0001t0007g0032
a0001c0001t0007g0032
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.1276+14800A>G
c.1276+14800A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68178119
chrX:68178462 G
G
 A
A
 1 a0001c0003t0010g0089
a0001c0003t0010g0089
 1 HG03688.hp1
HG03688.hp1
 intron_variant MODIFIER c.1276+14457C>T
c.1276+14457C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68178462
chrX:68178515 T
T
 G
G
 24 a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
others(21): Show 
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0003g0091
a0001c0001t0003g0122
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0003c0004t0014g0102
 24 HG00099.hp2
HG01243.hp1
HG01255.hp1
others(21): Show 
HG00099.hp2
HG01243.hp1
HG01255.hp1
HG02109.hp2
HG02145.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02630.hp2
HG02647.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
NA18906.hp2
NA19030.hp1
NA19043.hp1
 intron_variant MODIFIER c.1276+14404A>C
c.1276+14404A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68178515
chrX:68179167 T
T
 C
C
 1 a0001c0001t0020g0099
a0001c0001t0020g0099
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.1276+13752A>G
c.1276+13752A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68179167
chrX:68179207 C
C
 T
T
 1 a0001c0001t0005g0152
a0001c0001t0005g0152
 1 HG02630.hp2
HG02630.hp2
 intron_variant MODIFIER c.1276+13712G>A
c.1276+13712G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68179207
chrX:68179209 CCTT
CCTT
 C
C
 76 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(73): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0154
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0123
a0001c0001t0002g0133
a0001c0001t0003g0065
a0001c0001t0003g0081
a0001c0001t0007g0032
a0001c0001t0011g0061
a0001c0001t0015g0148
a0001c0001t0017g0036
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0004c0005t0012g0024
 76 HG00140.hp1
HG00609.hp1
HG00621.hp1
others(73): Show 
HG00140.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01169.hp2
HG01256.hp1
HG01346.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02071.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02300.hp1
HG02602.hp1
HG02615.hp2
HG02683.hp2
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG03017.hp1
HG03130.hp1
HG03490.hp1
HG03492.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.1276+13707_1276+13
others(9): Show 
c.1276+13707_1276+13709delAAG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68179209
chrX:68179695 T
T
 G
G
 31 a0001c0001t0002g0021
a0001c0001t0002g0134
a0001c0001t0003g0018
others(28): Show 
a0001c0001t0002g0021
a0001c0001t0002g0134
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0139
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0008g0096
a0001c0001t0013g0042
a0001c0001t0021g0150
a0001c0001t0030g0155
a0002c0002t0001g0002
a0002c0002t0003g0001
 31 HG00735.hp2
HG01081.hp2
HG01099.hp1
others(28): Show 
HG00735.hp2
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01192.hp1
HG01346.hp2
HG01358.hp1
HG01891.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02615.hp1
HG02647.hp1
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp2
HG02976.hp1
HG03471.hp1
HG03540.hp2
HG04199.hp1
NA18906.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1276+13224A>C
c.1276+13224A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68179695
chrX:68179800 C
C
 T
T
 2 a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0128
a0001c0001t0009g0129
 2 HG01243.hp1
HG02451.hp1
HG01243.hp1
HG02451.hp1
 intron_variant MODIFIER c.1276+13119G>A
c.1276+13119G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68179800
chrX:68180278 T
T
 C
C
 52 a0001c0001t0001g0049
a0001c0001t0001g0059
a0001c0001t0001g0074
others(49): Show 
a0001c0001t0001g0049
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0021
a0001c0001t0002g0083
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0008g0096
a0001c0001t0013g0042
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0027g0072
a0001c0001t0030g0155
a0002c0002t0001g0002
a0002c0002t0003g0001
 52 HG00099.hp1
HG00280.hp1
HG00735.hp2
others(49): Show 
HG00099.hp1
HG00280.hp1
HG00735.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01192.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01891.hp2
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02132.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02615.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp2
HG02976.hp1
HG03209.hp1
HG03471.hp1
HG03516.hp1
HG03540.hp2
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18945.hp1
NA18948.hp1
NA19030.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1276+12641A>G
c.1276+12641A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68180278
chrX:68180316 C
C
 T
T
 7 a0001c0001t0003g0091
a0001c0001t0003g0122
a0001c0001t0007g0023
others(4): Show 
a0001c0001t0003g0091
a0001c0001t0003g0122
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
 7 HG00099.hp2
HG01243.hp1
HG02451.hp1
others(4): Show 
HG00099.hp2
HG01243.hp1
HG02451.hp1
HG02559.hp1
HG02818.hp2
NA19030.hp1
NA19043.hp1
 intron_variant MODIFIER c.1276+12603G>A
c.1276+12603G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68180316
chrX:68180345 AT
AT
 A
A
 1 a0001c0001t0004g0004
a0001c0001t0004g0004
 1 HG02109.hp1
HG02109.hp1
 intron_variant MODIFIER c.1276+12573delA
c.1276+12573delA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68180345
chrX:68180383 G
G
 A
A
 19 a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
others(16): Show 
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0083
a0001c0001t0002g0124
a0001c0001t0002g0144
a0001c0001t0003g0113
a0001c0001t0003g0151
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0022g0103
a0001c0001t0027g0072
 19 HG00099.hp1
HG00280.hp1
HG01081.hp1
others(16): Show 
HG00099.hp1
HG00280.hp1
HG01081.hp1
HG01167.hp1
HG01169.hp1
HG01258.hp1
HG01261.hp1
HG02074.hp1
HG02132.hp1
HG02683.hp1
HG02723.hp2
HG02809.hp2
HG03209.hp1
HG03516.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18948.hp1
NA19030.hp2
 intron_variant MODIFIER c.1276+12536C>T
c.1276+12536C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68180383
chrX:68180407 G
G
 A
A
 3 a0001c0001t0001g0041
a0001c0001t0001g0092
a0001c0001t0024g0007
a0001c0001t0001g0041
a0001c0001t0001g0092
a0001c0001t0024g0007
 3 NA18960.hp1
NA19000.hp1
NA19007.hp1
NA18960.hp1
NA19000.hp1
NA19007.hp1
 intron_variant MODIFIER c.1276+12512C>T
c.1276+12512C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68180407
chrX:68180407 G
G
 T
T
 1 a0001c0001t0019g0003
a0001c0001t0019g0003
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.1276+12512C>A
c.1276+12512C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68180407
chrX:68180958 AT
AT
 A
A
 19 a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
others(16): Show 
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0083
a0001c0001t0002g0124
a0001c0001t0002g0144
a0001c0001t0003g0113
a0001c0001t0003g0151
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0022g0103
a0001c0001t0027g0072
 19 HG00099.hp1
HG00280.hp1
HG01081.hp1
others(16): Show 
HG00099.hp1
HG00280.hp1
HG01081.hp1
HG01167.hp1
HG01169.hp1
HG01258.hp1
HG01261.hp1
HG02074.hp1
HG02132.hp1
HG02683.hp1
HG02723.hp2
HG02809.hp2
HG03209.hp1
HG03516.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18948.hp1
NA19030.hp2
 intron_variant MODIFIER c.1276+11960delA
c.1276+11960delA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68180958
chrX:68181815 A
A
 G
G
 49 a0001c0001t0001g0049
a0001c0001t0001g0059
a0001c0001t0001g0074
others(46): Show 
a0001c0001t0001g0049
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0021
a0001c0001t0002g0083
a0001c0001t0002g0124
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0008g0096
a0001c0001t0013g0042
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0027g0072
a0001c0001t0030g0155
a0002c0002t0001g0002
a0002c0002t0003g0001
 49 HG00099.hp1
HG00280.hp1
HG00735.hp2
others(46): Show 
HG00099.hp1
HG00280.hp1
HG00735.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01192.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01891.hp2
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02132.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02615.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02922.hp2
HG02976.hp1
HG03209.hp1
HG03471.hp1
HG03516.hp1
HG03540.hp2
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18945.hp1
NA18948.hp1
NA19030.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1276+11104T>C
c.1276+11104T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68181815
chrX:68182102 C
C
 A
A
 1 a0001c0001t0002g0047
a0001c0001t0002g0047
 1 HG00673.hp1
HG00673.hp1
 intron_variant MODIFIER c.1276+10817G>T
c.1276+10817G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68182102
chrX:68182188 G
G
 GT
GT
 70 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
others(67): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0154
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0133
a0001c0001t0003g0065
a0001c0001t0003g0081
a0001c0001t0003g0118
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0011g0061
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0028g0084
a0001c0001t0029g0031
a0004c0005t0012g0024
 70 HG00140.hp1
HG00280.hp1
HG00609.hp1
others(67): Show 
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01169.hp2
HG01256.hp1
HG01346.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG01952.hp1
HG02015.hp1
HG02056.hp1
HG02071.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02300.hp1
HG02572.hp1
HG02602.hp1
HG02615.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02738.hp1
HG02809.hp2
HG03017.hp1
HG03130.hp1
HG03490.hp1
HG03492.hp1
HG03710.hp1
HG03942.hp1
NA18747.hp1
NA18943.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19056.hp1
NA19060.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.1276+10730dupA
c.1276+10730dupA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68182188
chrX:68182188 G
G
 GTT
GTT
 40 a0001c0001t0001g0015
a0001c0001t0001g0029
a0001c0001t0001g0049
others(37): Show 
a0001c0001t0001g0015
a0001c0001t0001g0029
a0001c0001t0001g0049
a0001c0001t0001g0059
a0001c0001t0001g0068
a0001c0001t0001g0075
a0001c0001t0001g0145
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0021
a0001c0001t0002g0083
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0027g0072
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
 40 HG00099.hp1
HG00735.hp2
HG01081.hp1
others(37): Show 
HG00099.hp1
HG00735.hp2
HG01081.hp1
HG01167.hp1
HG01169.hp1
HG01261.hp1
HG01346.hp2
HG01943.hp1
HG02027.hp1
HG02074.hp1
HG02132.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp2
HG02615.hp1
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02818.hp1
HG02895.hp1
HG02976.hp1
HG03209.hp1
HG03516.hp1
HG03540.hp2
HG03688.hp1
HG04115.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18977.hp1
NA18988.hp1
NA19000.hp1
NA19004.hp1
NA19030.hp2
NA19066.hp1
 intron_variant MODIFIER c.1276+10729_1276+10
others(8): Show 
c.1276+10729_1276+10730dupAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68182188
chrX:68182188 G
G
 GTTT
GTTT
 13 a0001c0001t0001g0074
a0001c0001t0003g0035
a0001c0001t0003g0063
others(10): Show 
a0001c0001t0001g0074
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0100
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0008g0096
a0002c0002t0001g0002
a0002c0002t0003g0001
 13 HG01081.hp2
HG01099.hp1
HG01106.hp1
others(10): Show 
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01258.hp1
HG01358.hp1
HG01891.hp2
HG02257.hp1
HG02280.hp2
HG02486.hp1
HG02922.hp2
HG04199.hp1
NA18906.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1276+10728_1276+10
others(9): Show 
c.1276+10728_1276+10730dupAAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68182188
chrX:68182188 G
G
 GTTTT
GTTTT
 7 a0001c0001t0002g0134
a0001c0001t0003g0076
a0001c0001t0004g0004
others(4): Show 
a0001c0001t0002g0134
a0001c0001t0003g0076
a0001c0001t0004g0004
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0020g0099
a0001c0001t0021g0150
 7 HG00738.hp1
HG01192.hp1
HG02109.hp1
others(4): Show 
HG00738.hp1
HG01192.hp1
HG02109.hp1
HG02559.hp2
HG02647.hp1
HG02886.hp2
HG03471.hp1
 intron_variant MODIFIER c.1276+10727_1276+10
others(10): Show 
c.1276+10727_1276+10730dupAAAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68182188
chrX:68182188 GT
GT
 G
G
 12 a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
others(9): Show 
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0005g0152
a0003c0004t0014g0102
 12 HG01255.hp1
HG02109.hp2
HG02630.hp2
others(9): Show 
HG01255.hp1
HG02109.hp2
HG02630.hp2
HG02886.hp1
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
 intron_variant MODIFIER c.1276+10730delA
c.1276+10730delA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68182188
chrX:68182188 GTTTTTTT
GTTTTTTT
 G
G
 1 a0001c0001t0004g0034
a0001c0001t0004g0034
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.1276+10724_1276+10
others(13): Show 
c.1276+10724_1276+10730delAAAAAAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68182188
chrX:68182220 G
G
 A
A
 1 a0001c0001t0003g0109
a0001c0001t0003g0109
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.1276+10699C>T
c.1276+10699C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68182220
chrX:68182518 A
A
 C
C
 17 a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
others(14): Show 
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0003c0004t0014g0102
 17 HG01255.hp1
HG02109.hp2
HG02145.hp1
others(14): Show 
HG01255.hp1
HG02109.hp2
HG02145.hp1
HG02559.hp2
HG02630.hp2
HG02647.hp1
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.1276+10401T>G
c.1276+10401T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68182518
chrX:68182772 C
C
 A
A
 4 a0001c0001t0003g0076
a0001c0001t0013g0042
a0002c0002t0001g0002
others(1): Show 
a0001c0001t0003g0076
a0001c0001t0013g0042
a0002c0002t0001g0002
a0002c0002t0003g0001
 4 HG01192.hp1
HG01346.hp2
HG01358.hp1
others(1): Show 
HG01192.hp1
HG01346.hp2
HG01358.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1276+10147G>T
c.1276+10147G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68182772
chrX:68183274 G
G
 A
A
 9 a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
others(6): Show 
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0003c0004t0014g0102
 9 HG02109.hp2
HG02145.hp1
HG02886.hp1
others(6): Show 
HG02109.hp2
HG02145.hp1
HG02886.hp1
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
 intron_variant MODIFIER c.1276+9645C>T
c.1276+9645C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68183274
chrX:68183320 T
T
 C
C
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.1276+9599A>G
c.1276+9599A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68183320
chrX:68183644 C
C
 T
T
 3 a0001c0001t0003g0091
a0001c0001t0003g0122
a0001c0001t0008g0112
a0001c0001t0003g0091
a0001c0001t0003g0122
a0001c0001t0008g0112
 3 HG00099.hp2
HG02818.hp2
NA19043.hp1
HG00099.hp2
HG02818.hp2
NA19043.hp1
 intron_variant MODIFIER c.1276+9275G>A
c.1276+9275G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68183644
chrX:68183678 T
T
 TA
TA
 34 a0001c0001t0002g0021
a0001c0001t0002g0134
a0001c0001t0003g0018
others(31): Show 
a0001c0001t0002g0021
a0001c0001t0002g0134
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0139
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0008g0096
a0001c0001t0013g0042
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0030g0155
a0002c0002t0001g0002
a0002c0002t0003g0001
 34 HG00735.hp2
HG00738.hp1
HG01081.hp2
others(31): Show 
HG00735.hp2
HG00738.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01192.hp1
HG01346.hp2
HG01358.hp1
HG01891.hp2
HG02055.hp1
HG02109.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02615.hp1
HG02647.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp2
HG02976.hp1
HG03471.hp1
HG03540.hp2
HG04199.hp1
NA18906.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1276+9240dupT
c.1276+9240dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68183678
chrX:68183809 C
C
 T
T
 1 a0001c0001t0019g0003
a0001c0001t0019g0003
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.1276+9110G>A
c.1276+9110G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68183809
chrX:68183823 T
T
 C
C
 1 a0001c0001t0001g0028
a0001c0001t0001g0028
 1 HG02083.hp1
HG02083.hp1
 intron_variant MODIFIER c.1276+9096A>G
c.1276+9096A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68183823
chrX:68183827 G
G
 A
A
 1 a0001c0001t0001g0145
a0001c0001t0001g0145
 1 NA18944.hp1
NA18944.hp1
 intron_variant MODIFIER c.1276+9092C>T
c.1276+9092C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68183827
chrX:68183881 T
T
 G
G
 26 a0001c0001t0001g0049
a0001c0001t0001g0059
a0001c0001t0001g0074
others(23): Show 
a0001c0001t0001g0049
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0083
a0001c0001t0002g0124
a0001c0001t0002g0144
a0001c0001t0003g0091
a0001c0001t0003g0113
a0001c0001t0003g0122
a0001c0001t0003g0151
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0022g0103
a0001c0001t0027g0072
 26 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(23): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG01081.hp1
HG01167.hp1
HG01169.hp1
HG01243.hp1
HG01258.hp1
HG01261.hp1
HG02074.hp1
HG02132.hp1
HG02451.hp1
HG02559.hp1
HG02683.hp1
HG02723.hp2
HG02818.hp2
HG03209.hp1
HG03516.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18945.hp1
NA18948.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.1276+9038A>C
c.1276+9038A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68183881
chrX:68184109 T
T
 C
C
 1 a0001c0001t0015g0148
a0001c0001t0015g0148
 1 HG01943.hp1
HG01943.hp1
 intron_variant MODIFIER c.1276+8810A>G
c.1276+8810A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68184109
chrX:68184197 G
G
 A
A
 31 a0001c0001t0002g0021
a0001c0001t0003g0018
a0001c0001t0003g0020
others(28): Show 
a0001c0001t0002g0021
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0139
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0008g0096
a0001c0001t0013g0042
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0030g0155
a0002c0002t0001g0002
a0002c0002t0003g0001
 31 HG00735.hp2
HG00738.hp1
HG01081.hp2
others(28): Show 
HG00735.hp2
HG00738.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01192.hp1
HG01346.hp2
HG01358.hp1
HG01891.hp2
HG02055.hp1
HG02109.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02615.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02922.hp2
HG02976.hp1
HG03471.hp1
HG03540.hp2
HG04199.hp1
NA18906.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1276+8722C>T
c.1276+8722C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68184197
chrX:68184287 C
C
 T
T
 11 a0001c0001t0002g0021
a0001c0001t0003g0018
a0001c0001t0003g0020
others(8): Show 
a0001c0001t0002g0021
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0109
a0001c0001t0003g0139
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0030g0155
 11 HG02257.hp2
HG02258.hp1
HG02280.hp1
others(8): Show 
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02486.hp1
HG02615.hp1
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02895.hp1
HG02976.hp1
HG03540.hp2
 intron_variant MODIFIER c.1276+8632G>A
c.1276+8632G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68184287
chrX:68184357 A
A
 G
G
 1 a0001c0001t0019g0003
a0001c0001t0019g0003
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.1276+8562T>C
c.1276+8562T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68184357
chrX:68184375 A
A
 G
G
 1 a0001c0001t0001g0141
a0001c0001t0001g0141
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.1276+8544T>C
c.1276+8544T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68184375
chrX:68184436 C
C
 T
T
 26 a0001c0001t0002g0021
a0001c0001t0003g0018
a0001c0001t0003g0020
others(23): Show 
a0001c0001t0002g0021
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0139
a0001c0001t0004g0004
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0013g0042
a0001c0001t0021g0150
a0001c0001t0030g0155
a0002c0002t0001g0002
a0002c0002t0003g0001
 26 HG01081.hp2
HG01099.hp1
HG01106.hp1
others(23): Show 
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01192.hp1
HG01346.hp2
HG01358.hp1
HG02055.hp1
HG02109.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02615.hp1
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02895.hp1
HG02922.hp2
HG02976.hp1
HG03471.hp1
HG03540.hp2
HG04199.hp1
NA18906.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1276+8483G>A
c.1276+8483G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68184436
chrX:68184479 G
G
 A
A
 1 a0001c0001t0020g0099
a0001c0001t0020g0099
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.1276+8440C>T
c.1276+8440C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68184479
chrX:68184526 G
G
 GA
GA
 1 a0001c0001t0003g0113
a0001c0001t0003g0113
 1 HG02723.hp2
HG02723.hp2
 intron_variant MODIFIER c.1276+8392dupT
c.1276+8392dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68184526
chrX:68184526 GA
GA
 G
G
 2 a0001c0001t0008g0096
a0001c0001t0020g0099
a0001c0001t0008g0096
a0001c0001t0020g0099
 2 HG00738.hp1
HG02257.hp1
HG00738.hp1
HG02257.hp1
 intron_variant MODIFIER c.1276+8392delT
c.1276+8392delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68184526
chrX:68184642 G
G
 C
C
 5 a0001c0001t0004g0004
a0001c0001t0004g0026
a0001c0001t0004g0030
others(2): Show 
a0001c0001t0004g0004
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0021g0150
 5 HG01081.hp2
HG02055.hp1
HG02109.hp1
others(2): Show 
HG01081.hp2
HG02055.hp1
HG02109.hp1
HG03471.hp1
NA18906.hp1
 intron_variant MODIFIER c.1276+8277C>G
c.1276+8277C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68184642
chrX:68184848 G
G
 A
A
 1 a0001c0001t0019g0003
a0001c0001t0019g0003
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.1276+8071C>T
c.1276+8071C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68184848
chrX:68185016 C
C
 A
A
 1 a0001c0001t0001g0044
a0001c0001t0001g0044
 1 HG03942.hp1
HG03942.hp1
 intron_variant MODIFIER c.1276+7903G>T
c.1276+7903G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68185016
chrX:68185425 A
A
 C
C
 6 a0001c0001t0004g0004
a0001c0001t0004g0026
a0001c0001t0004g0030
others(3): Show 
a0001c0001t0004g0004
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0009g0128
a0001c0001t0021g0150
 6 HG01081.hp2
HG02055.hp1
HG02109.hp1
others(3): Show 
HG01081.hp2
HG02055.hp1
HG02109.hp1
HG02451.hp1
HG03471.hp1
NA18906.hp1
 intron_variant MODIFIER c.1276+7494T>G
c.1276+7494T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68185425
chrX:68185590 A
A
 G
G
 1 a0001c0001t0006g0013
a0001c0001t0006g0013
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.1276+7329T>C
c.1276+7329T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68185590
chrX:68185607 C
C
 T
T
 1 a0001c0001t0006g0013
a0001c0001t0006g0013
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.1276+7312G>A
c.1276+7312G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68185607
chrX:68185608 G
G
 A
A
 26 a0001c0001t0002g0021
a0001c0001t0002g0133
a0001c0001t0002g0134
others(23): Show 
a0001c0001t0002g0021
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0076
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0139
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0013g0042
a0001c0001t0030g0155
a0002c0002t0003g0001
 26 HG00099.hp2
HG01099.hp1
HG01106.hp1
others(23): Show 
HG00099.hp2
HG01099.hp1
HG01106.hp1
HG01192.hp1
HG01346.hp2
HG01891.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02647.hp1
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp2
HG02976.hp1
HG03540.hp2
NA19030.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1276+7311C>T
c.1276+7311C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68185608
chrX:68185844 T
T
 C
C
 1 a0001c0001t0003g0035
a0001c0001t0003g0035
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.1276+7075A>G
c.1276+7075A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68185844
chrX:68185978 T
T
 G
G
 9 a0001c0001t0004g0004
a0001c0001t0004g0026
a0001c0001t0004g0030
others(6): Show 
a0001c0001t0004g0004
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0005g0152
a0001c0001t0008g0096
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0021g0150
 9 HG01081.hp2
HG01243.hp1
HG02055.hp1
others(6): Show 
HG01081.hp2
HG01243.hp1
HG02055.hp1
HG02109.hp1
HG02257.hp1
HG02451.hp1
HG02630.hp2
HG03471.hp1
NA18906.hp1
 intron_variant MODIFIER c.1276+6941A>C
c.1276+6941A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68185978
chrX:68186084 A
A
 G
G
 153 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(150): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 153 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(150): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1276+6835T>C
c.1276+6835T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68186084
chrX:68186255 A
A
 T
T
 4 a0001c0001t0002g0134
a0001c0001t0006g0013
a0001c0001t0006g0105
others(1): Show 
a0001c0001t0002g0134
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
 4 HG02559.hp2
HG02630.hp1
HG02647.hp1
others(1): Show 
HG02559.hp2
HG02630.hp1
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.1276+6664T>A
c.1276+6664T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68186255
chrX:68186475 T
T
 TA
TA
 2 a0001c0001t0003g0076
a0001c0001t0008g0096
a0001c0001t0003g0076
a0001c0001t0008g0096
 2 HG01192.hp1
HG02257.hp1
HG01192.hp1
HG02257.hp1
 intron_variant MODIFIER c.1276+6443dupT
c.1276+6443dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68186475
chrX:68186475 TA
TA
 T
T
 1 a0001c0001t0001g0149
a0001c0001t0001g0149
 1 NA20805.hp1
NA20805.hp1
 intron_variant MODIFIER c.1276+6443delT
c.1276+6443delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68186475
chrX:68186980 C
C
 T
T
 2 a0001c0001t0001g0045
a0001c0001t0001g0078
a0001c0001t0001g0045
a0001c0001t0001g0078
 2 NA19085.hp1
NA19088.hp1
NA19085.hp1
NA19088.hp1
 intron_variant MODIFIER c.1276+5939G>A
c.1276+5939G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68186980
chrX:68187507 C
C
 CA
CA
 4 a0001c0001t0001g0041
a0001c0001t0001g0092
a0001c0001t0003g0065
others(1): Show 
a0001c0001t0001g0041
a0001c0001t0001g0092
a0001c0001t0003g0065
a0001c0001t0024g0007
 4 HG02615.hp2
NA18960.hp1
NA19000.hp1
others(1): Show 
HG02615.hp2
NA18960.hp1
NA19000.hp1
NA19007.hp1
 intron_variant MODIFIER c.1276+5411dupT
c.1276+5411dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68187507
chrX:68187507 CA
CA
 C
C
 1 a0001c0001t0006g0120
a0001c0001t0006g0120
 1 HG01169.hp1
HG01169.hp1
 intron_variant MODIFIER c.1276+5411delT
c.1276+5411delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68187507
chrX:68187600 A
A
 C
C
 33 a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
others(30): Show 
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0002g0021
a0001c0001t0002g0115
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0007g0022
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0022g0103
a0001c0001t0030g0155
 33 HG00099.hp2
HG00280.hp1
HG00642.hp1
others(30): Show 
HG00099.hp2
HG00280.hp1
HG00642.hp1
HG00735.hp2
HG01081.hp1
HG02071.hp1
HG02132.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp2
HG02615.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02895.hp1
HG02922.hp2
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
NA18522.hp1
NA18612.hp1
NA18966.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.1276+5319T>G
c.1276+5319T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68187600
chrX:68187654 G
G
 C
C
 1 a0001c0001t0001g0052
a0001c0001t0001g0052
 1 HG02135.hp1
HG02135.hp1
 intron_variant MODIFIER c.1276+5265C>G
c.1276+5265C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68187654
chrX:68187726 T
T
 C
C
 152 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(149): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 152 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(149): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1276+5193A>G
c.1276+5193A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68187726
chrX:68187772 T
T
 C
C
 33 a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
others(30): Show 
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0002g0021
a0001c0001t0002g0115
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0007g0022
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0022g0103
a0001c0001t0030g0155
 33 HG00099.hp2
HG00280.hp1
HG00642.hp1
others(30): Show 
HG00099.hp2
HG00280.hp1
HG00642.hp1
HG00735.hp2
HG01081.hp1
HG02071.hp1
HG02132.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp2
HG02615.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02895.hp1
HG02922.hp2
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
NA18522.hp1
NA18612.hp1
NA18966.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.1276+5147A>G
c.1276+5147A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68187772
chrX:68187776 C
C
 T
T
 29 a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
others(26): Show 
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0002g0021
a0001c0001t0002g0115
a0001c0001t0002g0124
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0007g0022
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0022g0103
a0001c0001t0030g0155
 29 HG00099.hp2
HG00280.hp1
HG00642.hp1
others(26): Show 
HG00099.hp2
HG00280.hp1
HG00642.hp1
HG00735.hp2
HG01081.hp1
HG02071.hp1
HG02132.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02615.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02895.hp1
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
NA18522.hp1
NA18612.hp1
NA18966.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.1276+5143G>A
c.1276+5143G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68187776
chrX:68187829 A
A
 G
G
 1 a0001c0001t0001g0145
a0001c0001t0001g0145
 1 NA18944.hp1
NA18944.hp1
 intron_variant MODIFIER c.1276+5090T>C
c.1276+5090T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68187829
chrX:68187834 A
A
 G
G
 1 a0001c0001t0001g0146
a0001c0001t0001g0146
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.1276+5085T>C
c.1276+5085T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68187834
chrX:68187844 G
G
 A
A
 2 a0001c0001t0002g0116
a0001c0001t0008g0112
a0001c0001t0002g0116
a0001c0001t0008g0112
 2 HG02818.hp2
HG03579.hp1
HG02818.hp2
HG03579.hp1
 intron_variant MODIFIER c.1276+5075C>T
c.1276+5075C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68187844
chrX:68187849 G
G
 C
C
 4 a0001c0001t0001g0027
a0001c0001t0001g0041
a0001c0001t0001g0092
others(1): Show 
a0001c0001t0001g0027
a0001c0001t0001g0041
a0001c0001t0001g0092
a0001c0001t0024g0007
 4 NA18960.hp1
NA18994.hp1
NA19000.hp1
others(1): Show 
NA18960.hp1
NA18994.hp1
NA19000.hp1
NA19007.hp1
 intron_variant MODIFIER c.1276+5070C>G
c.1276+5070C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68187849
chrX:68187877 T
T
 G
G
 1 a0001c0001t0003g0091
a0001c0001t0003g0091
 1 HG00099.hp2
HG00099.hp2
 intron_variant MODIFIER c.1276+5042A>C
c.1276+5042A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68187877
chrX:68188042 C
C
 G
G
 2 a0001c0001t0005g0152
a0001c0001t0019g0003
a0001c0001t0005g0152
a0001c0001t0019g0003
 2 HG02630.hp2
HG02809.hp2
HG02630.hp2
HG02809.hp2
 intron_variant MODIFIER c.1276+4877G>C
c.1276+4877G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68188042
chrX:68188664 C
C
 T
T
 83 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(80): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0141
a0001c0001t0001g0145
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0123
a0001c0001t0002g0133
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0100
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0017g0036
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 83 HG00099.hp1
HG00140.hp1
HG00609.hp1
others(80): Show 
HG00099.hp1
HG00140.hp1
HG00609.hp1
HG00621.hp1
HG00673.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02074.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02300.hp1
HG02615.hp2
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG03017.hp1
HG03492.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1276+4255G>A
c.1276+4255G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68188664
chrX:68188763 A
A
 C
C
 1 a0001c0001t0016g0119
a0001c0001t0016g0119
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.1276+4156T>G
c.1276+4156T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68188763
chrX:68188871 T
T
 C
C
 1 a0001c0001t0006g0013
a0001c0001t0006g0013
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.1276+4048A>G
c.1276+4048A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68188871
chrX:68189004 A
A
 G
G
 1 a0001c0001t0005g0152
a0001c0001t0005g0152
 1 HG02630.hp2
HG02630.hp2
 intron_variant MODIFIER c.1276+3915T>C
c.1276+3915T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68189004
chrX:68189105 A
A
 C
C
 3 a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0030g0155
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0030g0155
 3 HG02280.hp1
HG02809.hp1
HG02895.hp1
HG02280.hp1
HG02809.hp1
HG02895.hp1
 intron_variant MODIFIER c.1276+3814T>G
c.1276+3814T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68189105
chrX:68189255 T
T
 A
A
 1 a0001c0001t0002g0125
a0001c0001t0002g0125
 1 HG01255.hp1
HG01255.hp1
 intron_variant MODIFIER c.1276+3664A>T
c.1276+3664A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68189255
chrX:68189260 A
A
 G
G
 11 a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
others(8): Show 
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0003g0118
a0001c0001t0004g0117
a0001c0001t0005g0107
a0003c0004t0014g0102
 11 HG01891.hp2
HG02109.hp2
HG02486.hp1
others(8): Show 
HG01891.hp2
HG02109.hp2
HG02486.hp1
HG02572.hp1
HG02886.hp1
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
 intron_variant MODIFIER c.1276+3659T>C
c.1276+3659T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68189260
chrX:68189267 C
C
 T
T
 44 a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
others(41): Show 
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0002g0021
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0019g0003
a0001c0001t0022g0103
a0001c0001t0030g0155
 44 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(41): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG01081.hp1
HG01243.hp1
HG02071.hp1
HG02132.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp2
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03579.hp1
NA18522.hp1
NA18612.hp1
NA18966.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.1276+3652G>A
c.1276+3652G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68189267
chrX:68189279 G
G
 A
A
 45 a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
others(42): Show 
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0002g0021
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0022g0103
a0001c0001t0030g0155
 45 HG00099.hp2
HG00280.hp1
HG00642.hp1
others(42): Show 
HG00099.hp2
HG00280.hp1
HG00642.hp1
HG00735.hp2
HG01081.hp1
HG01243.hp1
HG02071.hp1
HG02132.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp2
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03579.hp1
NA18522.hp1
NA18612.hp1
NA18966.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.1276+3640C>T
c.1276+3640C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68189279
chrX:68189340 T
T
 C
C
 1 a0001c0001t0003g0113
a0001c0001t0003g0113
 1 HG02723.hp2
HG02723.hp2
 intron_variant MODIFIER c.1276+3579A>G
c.1276+3579A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68189340
chrX:68189351 CT
CT
 C
C
 1 a0001c0001t0009g0128
a0001c0001t0009g0128
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.1276+3567delA
c.1276+3567delA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68189351
chrX:68189438 C
C
 G
G
 1 a0001c0001t0001g0078
a0001c0001t0001g0078
 1 NA19088.hp1
NA19088.hp1
 intron_variant MODIFIER c.1276+3481G>C
c.1276+3481G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68189438
chrX:68189636 C
C
 T
T
 1 a0001c0001t0003g0113
a0001c0001t0003g0113
 1 HG02723.hp2
HG02723.hp2
 intron_variant MODIFIER c.1276+3283G>A
c.1276+3283G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68189636
chrX:68189857 G
G
 A
A
 1 a0001c0001t0003g0091
a0001c0001t0003g0091
 1 HG00099.hp2
HG00099.hp2
 intron_variant MODIFIER c.1276+3062C>T
c.1276+3062C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68189857
chrX:68189923 T
T
 C
C
 1 a0001c0001t0006g0013
a0001c0001t0006g0013
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.1276+2996A>G
c.1276+2996A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68189923
chrX:68189927 T
T
 TA
TA
 1 a0001c0001t0005g0152
a0001c0001t0005g0152
 1 HG02630.hp2
HG02630.hp2
 intron_variant MODIFIER c.1276+2991dupT
c.1276+2991dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68189927
chrX:68189981 G
G
 GA
GA
 2 a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0004g0117
a0001c0001t0005g0107
 2 HG01891.hp2
HG02486.hp1
HG01891.hp2
HG02486.hp1
 intron_variant MODIFIER c.1276+2937dupT
c.1276+2937dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68189981
chrX:68189983 A
A
 G
G
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.1276+2936T>C
c.1276+2936T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68189983
chrX:68190155 C
C
 T
T
 23 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(20): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0020g0099
a0001c0001t0021g0150
a0003c0004t0014g0102
 23 HG00738.hp1
HG01081.hp2
HG01167.hp1
others(20): Show 
HG00738.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01255.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02486.hp1
HG02572.hp1
HG02886.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03471.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
NA18906.hp1
NA18906.hp2
 intron_variant MODIFIER c.1276+2764G>A
c.1276+2764G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68190155
chrX:68190320 T
T
 C
C
 1 a0001c0001t0020g0099
a0001c0001t0020g0099
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.1276+2599A>G
c.1276+2599A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68190320
chrX:68190418 G
G
 T
T
 14 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(11): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0003c0004t0014g0102
 14 HG01891.hp1
HG01891.hp2
HG02486.hp1
others(11): Show 
HG01891.hp1
HG01891.hp2
HG02486.hp1
HG02572.hp1
HG02886.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
NA18906.hp2
 intron_variant MODIFIER c.1276+2501C>A
c.1276+2501C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68190418
chrX:68190499 T
T
 C
C
 1 a0001c0001t0001g0140
a0001c0001t0001g0140
 1 NA18966.hp1
NA18966.hp1
 intron_variant MODIFIER c.1276+2420A>G
c.1276+2420A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68190499
chrX:68190515 C
C
 T
T
 3 a0001c0001t0008g0096
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0008g0096
a0001c0001t0009g0128
a0001c0001t0009g0129
 3 HG01243.hp1
HG02257.hp1
HG02451.hp1
HG01243.hp1
HG02257.hp1
HG02451.hp1
 intron_variant MODIFIER c.1276+2404G>A
c.1276+2404G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68190515
chrX:68190974 T
T
 C
C
 1 a0001c0001t0003g0122
a0001c0001t0003g0122
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.1276+1945A>G
c.1276+1945A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68190974
chrX:68191505 G
G
 T
T
 2 a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0105
a0001c0001t0006g0106
 2 HG02647.hp1
HG02886.hp2
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.1276+1414C>A
c.1276+1414C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68191505
chrX:68191534 G
G
 A
A
 1 a0001c0001t0003g0113
a0001c0001t0003g0113
 1 HG02723.hp2
HG02723.hp2
 intron_variant MODIFIER c.1276+1385C>T
c.1276+1385C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68191534
chrX:68192061 TA
TA
 T
T
 26 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(23): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0152
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0030g0155
a0003c0004t0014g0102
 26 HG00738.hp1
HG01081.hp2
HG01167.hp1
others(23): Show 
HG00738.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01255.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02486.hp1
HG02572.hp1
HG02630.hp2
HG02809.hp2
HG02886.hp1
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03471.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
NA18906.hp1
NA18906.hp2
 intron_variant MODIFIER c.1276+857delT
c.1276+857delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68192061
chrX:68192093 A
A
 T
T
 1 a0001c0001t0005g0137
a0001c0001t0005g0137
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.1276+826T>A
c.1276+826T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68192093
chrX:68192165 A
A
 G
G
 2 a0001c0001t0001g0075
a0001c0001t0002g0057
a0001c0001t0001g0075
a0001c0001t0002g0057
 2 NA18977.hp1
NA19012.hp1
NA18977.hp1
NA19012.hp1
 intron_variant MODIFIER c.1276+754T>C
c.1276+754T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68192165
chrX:68192241 G
G
 A
A
 1 a0001c0001t0003g0122
a0001c0001t0003g0122
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.1276+678C>T
c.1276+678C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68192241
chrX:68192316 T
T
 C
C
 26 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(23): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0152
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0030g0155
a0003c0004t0014g0102
 26 HG00738.hp1
HG01081.hp2
HG01167.hp1
others(23): Show 
HG00738.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01255.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02486.hp1
HG02572.hp1
HG02630.hp2
HG02809.hp2
HG02886.hp1
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03471.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
NA18906.hp1
NA18906.hp2
 intron_variant MODIFIER c.1276+603A>G
c.1276+603A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68192316
chrX:68192333 T
T
 C
C
 16 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(13): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0020g0099
a0001c0001t0030g0155
a0003c0004t0014g0102
 16 HG00738.hp1
HG01891.hp1
HG01891.hp2
others(13): Show 
HG00738.hp1
HG01891.hp1
HG01891.hp2
HG02486.hp1
HG02572.hp1
HG02886.hp1
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
NA18906.hp2
 intron_variant MODIFIER c.1276+586A>G
c.1276+586A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68192333
chrX:68192472 C
C
 CA
CA
 107 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(104): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0007g0022
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 107 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(104): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02300.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02976.hp1
HG03017.hp1
HG03209.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1276+446dupT
c.1276+446dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68192472
chrX:68192472 C
C
 CAA
CAA
 16 a0001c0001t0001g0038
a0001c0001t0002g0115
a0001c0001t0002g0116
others(13): Show 
a0001c0001t0001g0038
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0003g0113
a0001c0001t0004g0004
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0003t0010g0085
a0001c0003t0010g0089
 16 HG01243.hp1
HG02109.hp1
HG02145.hp1
others(13): Show 
HG01243.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02602.hp1
HG02723.hp2
HG02735.hp1
HG02818.hp2
HG02922.hp2
HG03579.hp1
HG03688.hp1
NA19030.hp1
 intron_variant MODIFIER c.1276+445_1276+446d
others(4): Show 
c.1276+445_1276+446dupTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68192472
chrX:68192472 CA
CA
 C
C
 26 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(23): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0030g0155
a0003c0004t0014g0102
 26 HG00738.hp1
HG01081.hp2
HG01167.hp1
others(23): Show 
HG00738.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01255.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02486.hp1
HG02572.hp1
HG02647.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03471.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
NA18906.hp1
NA18906.hp2
 intron_variant MODIFIER c.1276+446delT
c.1276+446delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68192472
chrX:68192475 A
A
 G
G
 1 a0001c0001t0005g0107
a0001c0001t0005g0107
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.1276+444T>C
c.1276+444T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68192475
chrX:68192503 C
C
 G
G
 1 a0001c0001t0009g0129
a0001c0001t0009g0129
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.1276+416G>C
c.1276+416G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68192503
chrX:68192557 CA
CA
 C
C
 1 a0001c0001t0001g0016
a0001c0001t0001g0016
 1 HG01256.hp1
HG01256.hp1
 intron_variant MODIFIER c.1276+361delT
c.1276+361delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68192557
chrX:68192571 T
T
 C
C
 26 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(23): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0152
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0030g0155
a0003c0004t0014g0102
 26 HG00738.hp1
HG01081.hp2
HG01167.hp1
others(23): Show 
HG00738.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01255.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02486.hp1
HG02572.hp1
HG02630.hp2
HG02809.hp2
HG02886.hp1
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03471.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
NA18906.hp1
NA18906.hp2
 intron_variant MODIFIER c.1276+348A>G
c.1276+348A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68192571
chrX:68192595 A
A
 G
G
 9 a0001c0001t0001g0038
a0001c0001t0002g0115
a0001c0001t0002g0116
others(6): Show 
a0001c0001t0001g0038
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0008g0112
 9 HG02145.hp1
HG02280.hp2
HG02451.hp2
others(6): Show 
HG02145.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02602.hp1
HG02818.hp2
HG02922.hp2
HG03579.hp1
NA19030.hp1
 intron_variant MODIFIER c.1276+324T>C
c.1276+324T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68192595
chrX:68192770 G
G
 A
A
 26 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(23): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0152
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0030g0155
a0003c0004t0014g0102
 26 HG00738.hp1
HG01081.hp2
HG01167.hp1
others(23): Show 
HG00738.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01255.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02486.hp1
HG02572.hp1
HG02630.hp2
HG02809.hp2
HG02886.hp1
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03471.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
NA18906.hp1
NA18906.hp2
 intron_variant MODIFIER c.1276+149C>T
c.1276+149C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 15/24 chrX 68192770
chrX:68193064 G
G
 A
A
 153 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(150): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 153 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(150): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1202-71C>T
c.1202-71C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 14/24 chrX 68193064
chrX:68193087 C
C
 T
T
 2 a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0105
a0001c0001t0006g0106
 2 HG02647.hp1
HG02886.hp2
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.1202-94G>A
c.1202-94G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 14/24 chrX 68193087
chrX:68193347 A
A
 C
C
 2 a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0105
a0001c0001t0006g0106
 2 HG02647.hp1
HG02886.hp2
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.1202-354T>G
c.1202-354T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 14/24 chrX 68193347
chrX:68193354 T
T
 C
C
 2 a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0125
a0001c0001t0002g0127
 2 HG01255.hp1
HG03540.hp1
HG01255.hp1
HG03540.hp1
 intron_variant MODIFIER c.1202-361A>G
c.1202-361A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 14/24 chrX 68193354
chrX:68194265 C
C
 T
T
 2 a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0105
a0001c0001t0006g0106
 2 HG02647.hp1
HG02886.hp2
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.1138+200G>A
c.1138+200G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 13/24 chrX 68194265
chrX:68194285 T
T
 C
C
 15 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(12): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0030g0155
a0003c0004t0014g0102
 15 HG01891.hp1
HG01891.hp2
HG02486.hp1
others(12): Show 
HG01891.hp1
HG01891.hp2
HG02486.hp1
HG02572.hp1
HG02886.hp1
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
NA18906.hp2
 intron_variant MODIFIER c.1138+180A>G
c.1138+180A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 13/24 chrX 68194285
chrX:68194385 A
A
 G
G
 28 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(25): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0030g0155
a0003c0004t0014g0102
 28 HG00738.hp1
HG01081.hp2
HG01167.hp1
others(25): Show 
HG00738.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01255.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02486.hp1
HG02572.hp1
HG02630.hp2
HG02647.hp1
HG02809.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03471.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
NA18906.hp1
NA18906.hp2
 intron_variant MODIFIER c.1138+80T>C
c.1138+80T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 13/24 chrX 68194385
chrX:68194444 C
C
 T
T
 2 a0001c0001t0005g0152
a0001c0001t0019g0003
a0001c0001t0005g0152
a0001c0001t0019g0003
 2 HG02630.hp2
HG02809.hp2
HG02630.hp2
HG02809.hp2
 intron_variant MODIFIER c.1138+21G>A
c.1138+21G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 13/24 chrX 68194444
chrX:68194563 A
A
 G
G
 8 a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
others(5): Show 
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0005g0152
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0019g0003
a0001c0001t0021g0150
 8 HG01081.hp2
HG01167.hp1
HG01169.hp1
others(5): Show 
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG02055.hp1
HG02630.hp2
HG02809.hp2
HG03471.hp1
NA18906.hp1
 intron_variant MODIFIER c.1105-65T>C
c.1105-65T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 12/24 chrX 68194563
chrX:68194805 C
C
 T
T
 3 a0001c0001t0003g0151
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0003g0151
a0001c0001t0004g0094
a0001c0001t0004g0095
 3 HG03209.hp1
HG03516.hp1
NA18522.hp1
HG03209.hp1
HG03516.hp1
NA18522.hp1
 intron_variant MODIFIER c.1105-307G>A
c.1105-307G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 12/24 chrX 68194805
chrX:68194924 C
C
 T
T
 2 a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0105
a0001c0001t0006g0106
 2 HG02647.hp1
HG02886.hp2
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.1105-426G>A
c.1105-426G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 12/24 chrX 68194924
chrX:68194984 G
G
 GAAAGA
GAAAGA
 2 a0001c0001t0002g0125
a0001c0001t0005g0152
a0001c0001t0002g0125
a0001c0001t0005g0152
 2 HG01255.hp1
HG02630.hp2
HG01255.hp1
HG02630.hp2
 intron_variant MODIFIER c.1105-491_1105-487d
others(7): Show 
c.1105-491_1105-487dupTCTTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 12/24 chrX 68194984
chrX:68194989 AG
AG
 A
A
 6 a0001c0001t0002g0127
a0001c0001t0004g0026
a0001c0001t0004g0030
others(3): Show 
a0001c0001t0002g0127
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0019g0003
 6 HG01081.hp2
HG01167.hp1
HG01169.hp1
others(3): Show 
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG02809.hp2
HG03540.hp1
NA18906.hp1
 intron_variant MODIFIER c.1105-492delC
c.1105-492delC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 12/24 chrX 68194989
chrX:68194989 AGAGAG
AGAGAG
 A
A
 5 a0001c0001t0004g0034
a0001c0001t0005g0110
a0001c0001t0020g0099
others(2): Show 
a0001c0001t0004g0034
a0001c0001t0005g0110
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0030g0155
 5 HG00738.hp1
HG02055.hp1
HG02895.hp1
others(2): Show 
HG00738.hp1
HG02055.hp1
HG02895.hp1
HG03471.hp1
HG03540.hp2
 intron_variant MODIFIER c.1105-496_1105-492d
others(7): Show 
c.1105-496_1105-492delCTCTC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 12/24 chrX 68194989
chrX:68194990 G
G
 A
A
 2 a0001c0001t0002g0125
a0001c0001t0005g0152
a0001c0001t0002g0125
a0001c0001t0005g0152
 2 HG01255.hp1
HG02630.hp2
HG01255.hp1
HG02630.hp2
 intron_variant MODIFIER c.1105-492C>T
c.1105-492C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 12/24 chrX 68194990
chrX:68194992 G
G
 A
A
 6 a0001c0001t0002g0127
a0001c0001t0004g0026
a0001c0001t0004g0030
others(3): Show 
a0001c0001t0002g0127
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0019g0003
 6 HG01081.hp2
HG01167.hp1
HG01169.hp1
others(3): Show 
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG02809.hp2
HG03540.hp1
NA18906.hp1
 intron_variant MODIFIER c.1105-494C>T
c.1105-494C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 12/24 chrX 68194992
chrX:68194994 G
G
 A
A
 2 a0001c0001t0002g0125
a0001c0001t0005g0152
a0001c0001t0002g0125
a0001c0001t0005g0152
 2 HG01255.hp1
HG02630.hp2
HG01255.hp1
HG02630.hp2
 intron_variant MODIFIER c.1105-496C>T
c.1105-496C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 12/24 chrX 68194994
chrX:68194996 G
G
 A
A
 11 a0001c0001t0002g0127
a0001c0001t0004g0026
a0001c0001t0004g0030
others(8): Show 
a0001c0001t0002g0127
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0005g0110
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0030g0155
 11 HG00738.hp1
HG01081.hp2
HG01167.hp1
others(8): Show 
HG00738.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG02055.hp1
HG02809.hp2
HG02895.hp1
HG03471.hp1
HG03540.hp1
HG03540.hp2
NA18906.hp1
 intron_variant MODIFIER c.1105-498C>T
c.1105-498C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 12/24 chrX 68194996
chrX:68195000 A
A
 G
G
 2 a0001c0001t0002g0125
a0001c0001t0005g0152
a0001c0001t0002g0125
a0001c0001t0005g0152
 2 HG01255.hp1
HG02630.hp2
HG01255.hp1
HG02630.hp2
 intron_variant MODIFIER c.1105-502T>C
c.1105-502T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 12/24 chrX 68195000
chrX:68195003 A
A
 AAAGG
AAAGG
 36 a0001c0001t0001g0016
a0001c0001t0001g0025
a0001c0001t0001g0029
others(33): Show 
a0001c0001t0001g0016
a0001c0001t0001g0025
a0001c0001t0001g0029
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0046
a0001c0001t0001g0049
a0001c0001t0001g0051
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0068
a0001c0001t0001g0073
a0001c0001t0001g0075
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0154
a0001c0001t0002g0054
a0001c0001t0002g0057
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0004g0010
a0001c0001t0007g0032
a0001c0001t0009g0128
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0017g0036
a0001c0001t0023g0037
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0028g0084
a0001c0003t0010g0085
a0001c0003t0010g0089
a0003c0004t0014g0102
a0004c0005t0012g0024
 36 HG00621.hp1
HG01069.hp1
HG01169.hp2
others(33): Show 
HG00621.hp1
HG01069.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01346.hp2
HG01515.hp1
HG01928.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02129.hp1
HG02451.hp1
HG02451.hp2
HG02615.hp2
HG02735.hp1
HG02886.hp1
HG03130.hp1
HG03688.hp1
HG03942.hp1
HG04115.hp1
NA18747.hp1
NA18943.hp1
NA18945.hp1
NA18955.hp1
NA18965.hp1
NA18970.hp1
NA18977.hp1
NA18986.hp1
NA18988.hp1
NA19005.hp1
NA19012.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA20905.hp1
 intron_variant MODIFIER c.1105-509_1105-506d
others(6): Show 
c.1105-509_1105-506dupCCTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 12/24 chrX 68195003
chrX:68195003 A
A
 AAAGGAAG
others(1): Show 
AAAGGAAGG
 22 a0001c0001t0001g0015
a0001c0001t0001g0028
a0001c0001t0001g0041
others(19): Show 
a0001c0001t0001g0015
a0001c0001t0001g0028
a0001c0001t0001g0041
a0001c0001t0001g0050
a0001c0001t0001g0053
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0082
a0001c0001t0001g0092
a0001c0001t0001g0141
a0001c0001t0001g0147
a0001c0001t0002g0083
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0003g0100
a0001c0001t0004g0117
a0001c0001t0018g0104
a0001c0001t0024g0007
a0002c0002t0003g0001
 22 HG00140.hp1
HG00280.hp1
HG00609.hp1
others(19): Show 
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG01074.hp1
HG01106.hp1
HG01891.hp2
HG01934.hp1
HG02083.hp1
HG02965.hp1
HG03139.hp1
HG03225.hp1
HG03710.hp1
NA18948.hp1
NA18952.hp1
NA18960.hp1
NA18974.hp1
NA18990.hp1
NA19000.hp1
NA19004.hp1
NA19007.hp1
NA19009.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1105-513_1105-506d
others(10): Show 
c.1105-513_1105-506dupCCTTCCTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 12/24 chrX 68195003
chrX:68195003 A
A
 AAAGGAAG
others(5): Show 
AAAGGAAGGAAGG
 5 a0001c0001t0001g0039
a0001c0001t0001g0048
a0001c0001t0002g0135
others(2): Show 
a0001c0001t0001g0039
a0001c0001t0001g0048
a0001c0001t0002g0135
a0001c0001t0003g0111
a0001c0001t0003g0118
 5 HG02572.hp1
HG02698.hp1
HG02738.hp1
others(2): Show 
HG02572.hp1
HG02698.hp1
HG02738.hp1
HG02976.hp2
NA18906.hp2
 intron_variant MODIFIER c.1105-517_1105-506d
others(14): Show 
c.1105-517_1105-506dupCCTTCCTTCCTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 12/24 chrX 68195003
chrX:68195003 A
A
 AAAGGAAG
others(9): Show 
AAAGGAAGGAAGGAAGG
 3 a0001c0001t0002g0108
a0001c0001t0002g0133
a0001c0001t0027g0072
a0001c0001t0002g0108
a0001c0001t0002g0133
a0001c0001t0027g0072
 3 HG00099.hp1
HG01891.hp1
HG03516.hp2
HG00099.hp1
HG01891.hp1
HG03516.hp2
 intron_variant MODIFIER c.1105-521_1105-506d
others(18): Show 
c.1105-521_1105-506dupCCTTCCTTCCTTCCTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 12/24 chrX 68195003
chrX:68195003 A
A
 AAAGGAAG
others(13): Show 
AAAGGAAGGAAGGAAGGAAGG
 2 a0001c0001t0002g0014
a0001c0001t0002g0114
a0001c0001t0002g0014
a0001c0001t0002g0114
 2 HG02922.hp1
HG03098.hp1
HG02922.hp1
HG03098.hp1
 intron_variant MODIFIER c.1105-525_1105-506d
others(22): Show 
c.1105-525_1105-506dupCCTTCCTTCCTTCCTTCCTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 12/24 chrX 68195003
chrX:68195003 AAAGG
AAAGG
 A
A
 11 a0001c0001t0001g0009
a0001c0001t0001g0045
a0001c0001t0001g0078
others(8): Show 
a0001c0001t0001g0009
a0001c0001t0001g0045
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0002g0123
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0006g0013
 11 HG02027.hp1
HG02280.hp2
HG02630.hp1
others(8): Show 
HG02027.hp1
HG02280.hp2
HG02630.hp1
HG02922.hp2
HG04228.hp1
NA18944.hp1
NA18995.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
 intron_variant MODIFIER c.1105-509_1105-506d
others(6): Show 
c.1105-509_1105-506delCCTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 12/24 chrX 68195003
chrX:68195003 AAAGGAAG
others(1): Show 
AAAGGAAGG
 A
A
 3 a0001c0001t0001g0140
a0001c0001t0004g0005
a0001c0001t0005g0137
a0001c0001t0001g0140
a0001c0001t0004g0005
a0001c0001t0005g0137
 3 HG00735.hp2
HG02818.hp1
NA18966.hp1
HG00735.hp2
HG02818.hp1
NA18966.hp1
 intron_variant MODIFIER c.1105-513_1105-506d
others(10): Show 
c.1105-513_1105-506delCCTTCCTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 12/24 chrX 68195003
chrX:68195003 AAAGGAAG
others(5): Show 
AAAGGAAGGAAGG
 A
A
 20 a0001c0001t0001g0008
a0001c0001t0001g0143
a0001c0001t0001g0146
others(17): Show 
a0001c0001t0001g0008
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0134
a0001c0001t0003g0063
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0005g0136
a0001c0001t0005g0138
a0001c0001t0016g0119
a0001c0001t0022g0103
 20 HG00099.hp2
HG01081.hp1
HG01346.hp1
others(17): Show 
HG00099.hp2
HG01081.hp1
HG01346.hp1
HG02109.hp1
HG02109.hp2
HG02257.hp2
HG02258.hp1
HG02559.hp2
HG02615.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02976.hp1
HG03490.hp1
HG03492.hp1
HG04199.hp1
NA18522.hp1
NA19043.hp1
 intron_variant MODIFIER c.1105-517_1105-506d
others(14): Show 
c.1105-517_1105-506delCCTTCCTTCCTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 12/24 chrX 68195003
chrX:68195003 AAAGGAAG
others(9): Show 
AAAGGAAGGAAGGAAGG
 A
A
 7 a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0003g0018
others(4): Show 
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0007g0022
 7 HG00642.hp1
HG02071.hp1
HG02280.hp1
others(4): Show 
HG00642.hp1
HG02071.hp1
HG02280.hp1
HG02809.hp1
HG03209.hp1
HG03516.hp1
NA19030.hp2
 intron_variant MODIFIER c.1105-521_1105-506d
others(18): Show 
c.1105-521_1105-506delCCTTCCTTCCTTCCTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 12/24 chrX 68195003
chrX:68195003 AAAGGAAG
others(13): Show 
AAAGGAAGGAAGGAAGGAAGG
 A
A
 2 a0001c0001t0002g0124
a0001c0001t0002g0144
a0001c0001t0002g0124
a0001c0001t0002g0144
 2 HG02132.hp1
NA18612.hp1
HG02132.hp1
NA18612.hp1
 intron_variant MODIFIER c.1105-525_1105-506d
others(22): Show 
c.1105-525_1105-506delCCTTCCTTCCTTCCTTCCTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 12/24 chrX 68195003
chrX:68195004 A
A
 G
G
 8 a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0004g0026
others(5): Show 
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0005g0152
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0019g0003
 8 HG01081.hp2
HG01167.hp1
HG01169.hp1
others(5): Show 
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01255.hp1
HG02630.hp2
HG02809.hp2
HG03540.hp1
NA18906.hp1
 intron_variant MODIFIER c.1105-506T>C
c.1105-506T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 12/24 chrX 68195004
chrX:68195006 G
G
 GA
GA
 2 a0001c0001t0002g0127
a0001c0001t0019g0003
a0001c0001t0002g0127
a0001c0001t0019g0003
 2 HG02809.hp2
HG03540.hp1
HG02809.hp2
HG03540.hp1
 intron_variant MODIFIER c.1105-509_1105-508i
others(3): Show 
c.1105-509_1105-508insT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 12/24 chrX 68195006
chrX:68195006 GGA
GGA
 G
G
 9 a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
others(6): Show 
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0005g0110
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0030g0155
 9 HG00738.hp1
HG01081.hp2
HG01167.hp1
others(6): Show 
HG00738.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG02055.hp1
HG02895.hp1
HG03471.hp1
HG03540.hp2
NA18906.hp1
 intron_variant MODIFIER c.1105-510_1105-509d
others(4): Show 
c.1105-510_1105-509delTC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 12/24 chrX 68195006
chrX:68195007 G
G
 A
A
 2 a0001c0001t0002g0125
a0001c0001t0005g0152
a0001c0001t0002g0125
a0001c0001t0005g0152
 2 HG01255.hp1
HG02630.hp2
HG01255.hp1
HG02630.hp2
 intron_variant MODIFIER c.1105-509C>T
c.1105-509C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 12/24 chrX 68195007
chrX:68195008 A
A
 AG
AG
 2 a0001c0001t0002g0127
a0001c0001t0019g0003
a0001c0001t0002g0127
a0001c0001t0019g0003
 2 HG02809.hp2
HG03540.hp1
HG02809.hp2
HG03540.hp1
 intron_variant MODIFIER c.1105-511_1105-510i
others(3): Show 
c.1105-511_1105-510insC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 12/24 chrX 68195008
chrX:68195011 G
G
 A
A
 11 a0001c0001t0002g0127
a0001c0001t0004g0026
a0001c0001t0004g0030
others(8): Show 
a0001c0001t0002g0127
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0005g0110
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0030g0155
 11 HG00738.hp1
HG01081.hp2
HG01167.hp1
others(8): Show 
HG00738.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG02055.hp1
HG02809.hp2
HG02895.hp1
HG03471.hp1
HG03540.hp1
HG03540.hp2
NA18906.hp1
 intron_variant MODIFIER c.1105-513C>T
c.1105-513C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 12/24 chrX 68195011
chrX:68195012 A
A
 G
G
 9 a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
others(6): Show 
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0005g0110
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0030g0155
 9 HG00738.hp1
HG01081.hp2
HG01167.hp1
others(6): Show 
HG00738.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG02055.hp1
HG02895.hp1
HG03471.hp1
HG03540.hp2
NA18906.hp1
 intron_variant MODIFIER c.1105-514T>C
c.1105-514T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 12/24 chrX 68195012
chrX:68195015 G
G
 A
A
 9 a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
others(6): Show 
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0005g0110
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0030g0155
 9 HG00738.hp1
HG01081.hp2
HG01167.hp1
others(6): Show 
HG00738.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG02055.hp1
HG02895.hp1
HG03471.hp1
HG03540.hp2
NA18906.hp1
 intron_variant MODIFIER c.1105-517C>T
c.1105-517C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 12/24 chrX 68195015
chrX:68195016 A
A
 G
G
 5 a0001c0001t0004g0034
a0001c0001t0005g0110
a0001c0001t0020g0099
others(2): Show 
a0001c0001t0004g0034
a0001c0001t0005g0110
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0030g0155
 5 HG00738.hp1
HG02055.hp1
HG02895.hp1
others(2): Show 
HG00738.hp1
HG02055.hp1
HG02895.hp1
HG03471.hp1
HG03540.hp2
 intron_variant MODIFIER c.1105-518T>C
c.1105-518T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 12/24 chrX 68195016
chrX:68195019 G
G
 A
A
 5 a0001c0001t0004g0034
a0001c0001t0005g0110
a0001c0001t0020g0099
others(2): Show 
a0001c0001t0004g0034
a0001c0001t0005g0110
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0030g0155
 5 HG00738.hp1
HG02055.hp1
HG02895.hp1
others(2): Show 
HG00738.hp1
HG02055.hp1
HG02895.hp1
HG03471.hp1
HG03540.hp2
 intron_variant MODIFIER c.1105-521C>T
c.1105-521C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 12/24 chrX 68195019
chrX:68195051 GAAGGAAG
others(9): Show 
GAAGGAAGGAAGGAAGA
 G
G
 1 a0001c0001t0006g0106
a0001c0001t0006g0106
 1 HG02647.hp1
HG02647.hp1
 intron_variant MODIFIER c.1105-569_1105-554d
others(18): Show 
c.1105-569_1105-554delTCTTCCTTCCTTCCTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 12/24 chrX 68195051
chrX:68195055 GAAGGAAG
others(5): Show 
GAAGGAAGGAAGA
 G
G
 1 a0001c0001t0006g0105
a0001c0001t0006g0105
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.1105-569_1105-558d
others(14): Show 
c.1105-569_1105-558delTCTTCCTTCCTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 12/24 chrX 68195055
chrX:68195063 G
G
 A
A
 4 a0001c0001t0002g0115
a0001c0001t0007g0023
a0001c0001t0007g0033
others(1): Show 
a0001c0001t0002g0115
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0008g0112
 4 HG02145.hp1
HG02559.hp1
HG02818.hp2
others(1): Show 
HG02145.hp1
HG02559.hp1
HG02818.hp2
NA19030.hp1
 intron_variant MODIFIER c.1105-565C>T
c.1105-565C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 12/24 chrX 68195063
chrX:68195063 G
G
 GAAGA
GAAGA
 1 a0001c0001t0002g0116
a0001c0001t0002g0116
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.1105-569_1105-566d
others(6): Show 
c.1105-569_1105-566dupTCTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 12/24 chrX 68195063
chrX:68195063 G
G
 GAAGGAAG
others(1): Show 
GAAGGAAGA
 1 a0001c0001t0001g0038
a0001c0001t0001g0038
 1 HG02602.hp1
HG02602.hp1
 intron_variant MODIFIER c.1105-566_1105-565i
others(10): Show 
c.1105-566_1105-565insTCTTCCTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 12/24 chrX 68195063
chrX:68195063 GAAGAAAG
others(1): Show 
GAAGAAAGA
 G
G
 3 a0001c0001t0004g0030
a0001c0001t0005g0110
a0001c0001t0030g0155
a0001c0001t0004g0030
a0001c0001t0005g0110
a0001c0001t0030g0155
 3 HG01081.hp2
HG02895.hp1
HG03540.hp2
HG01081.hp2
HG02895.hp1
HG03540.hp2
 intron_variant MODIFIER c.1105-573_1105-566d
others(10): Show 
c.1105-573_1105-566delTCTTTCTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 12/24 chrX 68195063
chrX:68195067 A
A
 G
G
 10 a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0004g0026
others(7): Show 
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0004g0026
a0001c0001t0004g0034
a0001c0001t0005g0152
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
 10 HG00738.hp1
HG01167.hp1
HG01169.hp1
others(7): Show 
HG00738.hp1
HG01167.hp1
HG01169.hp1
HG01255.hp1
HG02055.hp1
HG02630.hp2
HG02809.hp2
HG03471.hp1
HG03540.hp1
NA18906.hp1
 intron_variant MODIFIER c.1105-569T>C
c.1105-569T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 12/24 chrX 68195067
chrX:68195071 A
A
 G
G
 10 a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0004g0026
others(7): Show 
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0004g0026
a0001c0001t0004g0034
a0001c0001t0005g0152
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
 10 HG00738.hp1
HG01167.hp1
HG01169.hp1
others(7): Show 
HG00738.hp1
HG01167.hp1
HG01169.hp1
HG01255.hp1
HG02055.hp1
HG02630.hp2
HG02809.hp2
HG03471.hp1
HG03540.hp1
NA18906.hp1
 intron_variant MODIFIER c.1105-573T>C
c.1105-573T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 12/24 chrX 68195071
chrX:68195337 T
T
 C
C
 26 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(23): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0152
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0030g0155
a0003c0004t0014g0102
 26 HG00738.hp1
HG01081.hp2
HG01167.hp1
others(23): Show 
HG00738.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01255.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02486.hp1
HG02572.hp1
HG02630.hp2
HG02809.hp2
HG02886.hp1
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03471.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
NA18906.hp1
NA18906.hp2
 intron_variant MODIFIER c.1105-839A>G
c.1105-839A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 12/24 chrX 68195337
chrX:68195368 T
T
 C
C
 26 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(23): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0152
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0030g0155
a0003c0004t0014g0102
 26 HG00738.hp1
HG01081.hp2
HG01167.hp1
others(23): Show 
HG00738.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01255.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02486.hp1
HG02572.hp1
HG02630.hp2
HG02809.hp2
HG02886.hp1
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03471.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
NA18906.hp1
NA18906.hp2
 intron_variant MODIFIER c.1105-870A>G
c.1105-870A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 12/24 chrX 68195368
chrX:68195391 C
C
 G
G
 3 a0001c0001t0008g0096
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0008g0096
a0001c0001t0009g0128
a0001c0001t0009g0129
 3 HG01243.hp1
HG02257.hp1
HG02451.hp1
HG01243.hp1
HG02257.hp1
HG02451.hp1
 intron_variant MODIFIER c.1105-893G>C
c.1105-893G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 12/24 chrX 68195391
chrX:68195558 C
C
 G
G
 4 a0001c0001t0001g0016
a0001c0001t0001g0059
a0001c0001t0001g0074
others(1): Show 
a0001c0001t0001g0016
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0132
 4 HG01069.hp1
HG01256.hp1
HG01258.hp1
others(1): Show 
HG01069.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
 intron_variant MODIFIER c.1105-1060G>C
c.1105-1060G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 12/24 chrX 68195558
chrX:68195654 T
T
 G
G
 2 a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0007g0023
a0001c0001t0007g0033
 2 HG02559.hp1
NA19030.hp1
HG02559.hp1
NA19030.hp1
 intron_variant MODIFIER c.1105-1156A>C
c.1105-1156A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 12/24 chrX 68195654
chrX:68195806 T
T
 C
C
 15 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(12): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0030g0155
a0003c0004t0014g0102
 15 HG01891.hp1
HG01891.hp2
HG02486.hp1
others(12): Show 
HG01891.hp1
HG01891.hp2
HG02486.hp1
HG02572.hp1
HG02886.hp1
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
NA18906.hp2
 intron_variant MODIFIER c.1105-1308A>G
c.1105-1308A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 12/24 chrX 68195806
chrX:68195851 G
G
 C
C
 1 a0001c0001t0007g0032
a0001c0001t0007g0032
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.1104+1335C>G
c.1104+1335C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 12/24 chrX 68195851
chrX:68195935 G
G
 A
A
 1 a0001c0001t0003g0091
a0001c0001t0003g0091
 1 HG00099.hp2
HG00099.hp2
 intron_variant MODIFIER c.1104+1251C>T
c.1104+1251C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 12/24 chrX 68195935
chrX:68196018 GAA
GAA
 G
G
 1 a0001c0001t0002g0006
a0001c0001t0002g0006
 1 HG02074.hp1
HG02074.hp1
 intron_variant MODIFIER c.1104+1166_1104+116
others(6): Show 
c.1104+1166_1104+1167delTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 12/24 chrX 68196018
chrX:68196542 C
C
 T
T
 26 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(23): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0152
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0030g0155
a0003c0004t0014g0102
 26 HG00738.hp1
HG01081.hp2
HG01167.hp1
others(23): Show 
HG00738.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01255.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02486.hp1
HG02572.hp1
HG02630.hp2
HG02809.hp2
HG02886.hp1
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03471.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
NA18906.hp1
NA18906.hp2
 intron_variant MODIFIER c.1104+644G>A
c.1104+644G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 12/24 chrX 68196542
chrX:68196635 C
C
 T
T
 1 a0001c0001t0002g0083
a0001c0001t0002g0083
 1 NA18948.hp1
NA18948.hp1
 intron_variant MODIFIER c.1104+551G>A
c.1104+551G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 12/24 chrX 68196635
chrX:68196710 T
T
 C
C
 26 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(23): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0152
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0030g0155
a0003c0004t0014g0102
 26 HG00738.hp1
HG01081.hp2
HG01167.hp1
others(23): Show 
HG00738.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01255.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02486.hp1
HG02572.hp1
HG02630.hp2
HG02809.hp2
HG02886.hp1
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03471.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
NA18906.hp1
NA18906.hp2
 intron_variant MODIFIER c.1104+476A>G
c.1104+476A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 12/24 chrX 68196710
chrX:68197042 G
G
 T
T
 1 a0001c0001t0002g0124
a0001c0001t0002g0124
 1 NA18612.hp1
NA18612.hp1
 intron_variant MODIFIER c.1104+144C>A
c.1104+144C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 12/24 chrX 68197042
chrX:68197316 TG
TG
 T
T
 2 a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0105
a0001c0001t0006g0106
 2 HG02647.hp1
HG02886.hp2
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.1026-53delC
c.1026-53delC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 11/24 chrX 68197316
chrX:68197390 T
T
 C
C
 2 a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0125
a0001c0001t0002g0127
 2 HG01255.hp1
HG03540.hp1
HG01255.hp1
HG03540.hp1
 intron_variant MODIFIER c.1026-126A>G
c.1026-126A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 11/24 chrX 68197390
chrX:68197436 C
C
 G
G
 15 a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0004g0026
others(12): Show 
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0005g0110
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0030g0155
 15 HG00738.hp1
HG01081.hp2
HG01167.hp1
others(12): Show 
HG00738.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01255.hp1
HG02055.hp1
HG02630.hp2
HG02647.hp1
HG02809.hp2
HG02886.hp2
HG02895.hp1
HG03471.hp1
HG03540.hp1
HG03540.hp2
NA18906.hp1
 intron_variant MODIFIER c.1026-172G>C
c.1026-172G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 11/24 chrX 68197436
chrX:68197465 C
C
 T
T
 1 a0001c0001t0002g0115
a0001c0001t0002g0115
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.1026-201G>A
c.1026-201G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 11/24 chrX 68197465
chrX:68197740 A
A
 T
T
 29 a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
others(26): Show 
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0007g0022
a0001c0001t0016g0119
a0001c0001t0022g0103
 29 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(26): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG01081.hp1
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02559.hp2
HG02615.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
NA18522.hp1
NA18612.hp1
NA18966.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.1026-476T>A
c.1026-476T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 11/24 chrX 68197740
chrX:68197988 G
G
 A
A
 2 a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0105
a0001c0001t0006g0106
 2 HG02647.hp1
HG02886.hp2
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.1026-724C>T
c.1026-724C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 11/24 chrX 68197988
chrX:68198118 GAATATTC
others(4): Show 
GAATATTCCCCA
 G
G
 1 a0001c0001t0006g0013
a0001c0001t0006g0013
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.1026-865_1026-855d
others(13): Show 
c.1026-865_1026-855delTGGGGAATATT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 11/24 chrX 68198118
chrX:68198128 C
C
 T
T
 3 a0001c0001t0008g0096
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0008g0096
a0001c0001t0009g0128
a0001c0001t0009g0129
 3 HG01243.hp1
HG02257.hp1
HG02451.hp1
HG01243.hp1
HG02257.hp1
HG02451.hp1
 intron_variant MODIFIER c.1026-864G>A
c.1026-864G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 11/24 chrX 68198128
chrX:68198252 G
G
 GA
GA
 2 a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0125
a0001c0001t0002g0127
 2 HG01255.hp1
HG03540.hp1
HG01255.hp1
HG03540.hp1
 intron_variant MODIFIER c.1026-989dupT
c.1026-989dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 11/24 chrX 68198252
chrX:68198546 G
G
 C
C
 2 a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0125
a0001c0001t0002g0127
 2 HG01255.hp1
HG03540.hp1
HG01255.hp1
HG03540.hp1
 intron_variant MODIFIER c.1026-1282C>G
c.1026-1282C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 11/24 chrX 68198546
chrX:68198664 G
G
 A
A
 1 a0001c0001t0005g0110
a0001c0001t0005g0110
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.1026-1400C>T
c.1026-1400C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 11/24 chrX 68198664
chrX:68198755 A
A
 G
G
 26 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(23): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0152
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0030g0155
a0003c0004t0014g0102
 26 HG00738.hp1
HG01081.hp2
HG01167.hp1
others(23): Show 
HG00738.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01255.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02486.hp1
HG02572.hp1
HG02630.hp2
HG02809.hp2
HG02886.hp1
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03471.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
NA18906.hp1
NA18906.hp2
 intron_variant MODIFIER c.1026-1491T>C
c.1026-1491T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 11/24 chrX 68198755
chrX:68198788 G
G
 C
C
 26 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(23): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0152
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0030g0155
a0003c0004t0014g0102
 26 HG00738.hp1
HG01081.hp2
HG01167.hp1
others(23): Show 
HG00738.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01255.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02486.hp1
HG02572.hp1
HG02630.hp2
HG02809.hp2
HG02886.hp1
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03471.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
NA18906.hp1
NA18906.hp2
 intron_variant MODIFIER c.1026-1524C>G
c.1026-1524C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 11/24 chrX 68198788
chrX:68198938 C
C
 T
T
 2 a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0125
a0001c0001t0002g0127
 2 HG01255.hp1
HG03540.hp1
HG01255.hp1
HG03540.hp1
 intron_variant MODIFIER c.1026-1674G>A
c.1026-1674G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 11/24 chrX 68198938
chrX:68198975 T
T
 C
C
 1 a0001c0001t0020g0099
a0001c0001t0020g0099
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.1026-1711A>G
c.1026-1711A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 11/24 chrX 68198975
chrX:68199013 C
C
 T
T
 1 a0001c0001t0029g0031
a0001c0001t0029g0031
 1 NA18962.hp1
NA18962.hp1
 intron_variant MODIFIER c.1026-1749G>A
c.1026-1749G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 11/24 chrX 68199013
chrX:68199020 A
A
 G
G
 1 a0001c0001t0007g0032
a0001c0001t0007g0032
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.1026-1756T>C
c.1026-1756T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 11/24 chrX 68199020
chrX:68199065 T
T
 C
C
 1 a0001c0001t0001g0049
a0001c0001t0001g0049
 1 NA18945.hp1
NA18945.hp1
 intron_variant MODIFIER c.1026-1801A>G
c.1026-1801A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 11/24 chrX 68199065
chrX:68199713 C
C
 T
T
 2 a0001c0001t0001g0093
a0001c0001t0003g0081
a0001c0001t0001g0093
a0001c0001t0003g0081
 2 HG00735.hp1
HG03492.hp1
HG00735.hp1
HG03492.hp1
 intron_variant MODIFIER c.1025+1906G>A
c.1025+1906G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 11/24 chrX 68199713
chrX:68199933 C
C
 T
T
 3 a0001c0001t0008g0096
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0008g0096
a0001c0001t0009g0128
a0001c0001t0009g0129
 3 HG01243.hp1
HG02257.hp1
HG02451.hp1
HG01243.hp1
HG02257.hp1
HG02451.hp1
 intron_variant MODIFIER c.1025+1686G>A
c.1025+1686G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 11/24 chrX 68199933
chrX:68199947 G
G
 A
A
 1 a0001c0001t0001g0066
a0001c0001t0001g0066
 1 NA18990.hp1
NA18990.hp1
 intron_variant MODIFIER c.1025+1672C>T
c.1025+1672C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 11/24 chrX 68199947
chrX:68200129 C
C
 T
T
 26 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(23): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0152
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0030g0155
a0003c0004t0014g0102
 26 HG00738.hp1
HG01081.hp2
HG01167.hp1
others(23): Show 
HG00738.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01255.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02486.hp1
HG02572.hp1
HG02630.hp2
HG02809.hp2
HG02886.hp1
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03471.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
NA18906.hp1
NA18906.hp2
 intron_variant MODIFIER c.1025+1490G>A
c.1025+1490G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 11/24 chrX 68200129
chrX:68200194 G
G
 A
A
 1 a0001c0001t0008g0112
a0001c0001t0008g0112
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.1025+1425C>T
c.1025+1425C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 11/24 chrX 68200194
chrX:68200605 A
A
 G
G
 1 a0001c0001t0001g0028
a0001c0001t0001g0028
 1 HG02083.hp1
HG02083.hp1
 intron_variant MODIFIER c.1025+1014T>C
c.1025+1014T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 11/24 chrX 68200605
chrX:68200672 T
T
 G
G
 152 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(149): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 152 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(149): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1025+947A>C
c.1025+947A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 11/24 chrX 68200672
chrX:68200707 T
T
 A
A
 2 a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0054
a0001c0001t0002g0055
 2 NA18983.hp1
NA18986.hp1
NA18983.hp1
NA18986.hp1
 intron_variant MODIFIER c.1025+912A>T
c.1025+912A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 11/24 chrX 68200707
chrX:68200953 C
C
 A
A
 1 a0001c0001t0004g0117
a0001c0001t0004g0117
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.1025+666G>T
c.1025+666G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 11/24 chrX 68200953
chrX:68201268 G
G
 T
T
 1 a0001c0001t0009g0129
a0001c0001t0009g0129
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.1025+351C>A
c.1025+351C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 11/24 chrX 68201268
chrX:68201962 G
G
 C
C
 3 a0001c0001t0008g0096
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0008g0096
a0001c0001t0009g0128
a0001c0001t0009g0129
 3 HG01243.hp1
HG02257.hp1
HG02451.hp1
HG01243.hp1
HG02257.hp1
HG02451.hp1
 intron_variant MODIFIER c.934-252C>G
c.934-252C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 10/24 chrX 68201962
chrX:68202206 G
G
 C
C
 111 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(108): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0007g0022
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 111 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(108): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02300.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02976.hp1
HG03017.hp1
HG03209.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.934-496C>G
c.934-496C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 10/24 chrX 68202206
chrX:68202240 C
C
 T
T
 1 a0001c0001t0001g0008
a0001c0001t0001g0008
 1 HG01346.hp1
HG01346.hp1
 intron_variant MODIFIER c.934-530G>A
c.934-530G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 10/24 chrX 68202240
chrX:68202349 T
T
 A
A
 6 a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
others(3): Show 
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0021g0150
 6 HG01081.hp2
HG01167.hp1
HG01169.hp1
others(3): Show 
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG02055.hp1
HG03471.hp1
NA18906.hp1
 intron_variant MODIFIER c.934-639A>T
c.934-639A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 10/24 chrX 68202349
chrX:68202430 T
T
 A
A
 26 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(23): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0152
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0030g0155
a0003c0004t0014g0102
 26 HG00738.hp1
HG01081.hp2
HG01167.hp1
others(23): Show 
HG00738.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01255.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02486.hp1
HG02572.hp1
HG02630.hp2
HG02809.hp2
HG02886.hp1
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03471.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
NA18906.hp1
NA18906.hp2
 intron_variant MODIFIER c.934-720A>T
c.934-720A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 10/24 chrX 68202430
chrX:68202504 A
A
 AT
AT
 1 a0001c0001t0007g0032
a0001c0001t0007g0032
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.934-795dupA
c.934-795dupA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 10/24 chrX 68202504
chrX:68202504 AT
AT
 A
A
 27 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(24): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0003g0035
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0021g0150
a0001c0001t0030g0155
a0003c0004t0014g0102
 27 HG01081.hp2
HG01099.hp1
HG01167.hp1
others(24): Show 
HG01081.hp2
HG01099.hp1
HG01167.hp1
HG01169.hp1
HG01255.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02486.hp1
HG02572.hp1
HG02630.hp2
HG02647.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03471.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
NA18906.hp1
NA18906.hp2
 intron_variant MODIFIER c.934-795delA
c.934-795delA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 10/24 chrX 68202504
chrX:68202504 ATT
ATT
 A
A
 1 a0001c0001t0019g0003
a0001c0001t0019g0003
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.934-796_934-795del
others(2): Show 
c.934-796_934-795delAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 10/24 chrX 68202504
chrX:68202528 C
C
 T
T
 3 a0001c0001t0008g0096
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0008g0096
a0001c0001t0009g0128
a0001c0001t0009g0129
 3 HG01243.hp1
HG02257.hp1
HG02451.hp1
HG01243.hp1
HG02257.hp1
HG02451.hp1
 intron_variant MODIFIER c.934-818G>A
c.934-818G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 10/24 chrX 68202528
chrX:68202735 T
T
 C
C
 8 a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0007g0023
others(5): Show 
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
 8 HG01243.hp1
HG02145.hp1
HG02257.hp1
others(5): Show 
HG01243.hp1
HG02145.hp1
HG02257.hp1
HG02451.hp1
HG02559.hp1
HG02818.hp2
HG03579.hp1
NA19030.hp1
 intron_variant MODIFIER c.934-1025A>G
c.934-1025A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 10/24 chrX 68202735
chrX:68202890 T
T
 C
C
 1 a0001c0001t0020g0099
a0001c0001t0020g0099
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.934-1180A>G
c.934-1180A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 10/24 chrX 68202890
chrX:68203161 A
A
 T
T
 3 a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
 3 HG02280.hp2
HG02451.hp2
HG02922.hp2
HG02280.hp2
HG02451.hp2
HG02922.hp2
 intron_variant MODIFIER c.934-1451T>A
c.934-1451T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 10/24 chrX 68203161
chrX:68203437 T
T
 C
C
 27 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(24): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0019g0003
a0001c0001t0021g0150
a0001c0001t0030g0155
a0003c0004t0014g0102
 27 HG01081.hp2
HG01167.hp1
HG01169.hp1
others(24): Show 
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01255.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02486.hp1
HG02572.hp1
HG02630.hp2
HG02647.hp1
HG02809.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03471.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
NA18906.hp1
NA18906.hp2
 intron_variant MODIFIER c.934-1727A>G
c.934-1727A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 10/24 chrX 68203437
chrX:68203479 A
A
 G
G
 122 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(119): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 122 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(119): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02300.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02976.hp1
HG03017.hp1
HG03209.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.934-1769T>C
c.934-1769T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 10/24 chrX 68203479
chrX:68203480 T
T
 C
C
 1 a0001c0001t0003g0035
a0001c0001t0003g0035
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.934-1770A>G
c.934-1770A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 10/24 chrX 68203480
chrX:68203673 A
A
 C
C
 1 a0001c0001t0002g0019
a0001c0001t0002g0019
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.934-1963T>G
c.934-1963T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 10/24 chrX 68203673
chrX:68203734 T
T
 C
C
 27 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(24): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0019g0003
a0001c0001t0021g0150
a0001c0001t0030g0155
a0003c0004t0014g0102
 27 HG01081.hp2
HG01167.hp1
HG01169.hp1
others(24): Show 
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01255.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02486.hp1
HG02572.hp1
HG02630.hp2
HG02647.hp1
HG02809.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03471.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
NA18906.hp1
NA18906.hp2
 intron_variant MODIFIER c.934-2024A>G
c.934-2024A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 10/24 chrX 68203734
chrX:68203797 C
C
 A
A
 1 a0001c0001t0001g0093
a0001c0001t0001g0093
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.934-2087G>T
c.934-2087G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 10/24 chrX 68203797
chrX:68203809 G
G
 T
T
 27 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(24): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0019g0003
a0001c0001t0021g0150
a0001c0001t0030g0155
a0003c0004t0014g0102
 27 HG01081.hp2
HG01167.hp1
HG01169.hp1
others(24): Show 
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01255.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02486.hp1
HG02572.hp1
HG02630.hp2
HG02647.hp1
HG02809.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03471.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
NA18906.hp1
NA18906.hp2
 intron_variant MODIFIER c.934-2099C>A
c.934-2099C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 10/24 chrX 68203809
chrX:68203815 T
T
 C
C
 151 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(148): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 151 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(148): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.934-2105A>G
c.934-2105A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 10/24 chrX 68203815
chrX:68203839 G
G
 A
A
 151 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(148): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 151 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(148): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.934-2129C>T
c.934-2129C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 10/24 chrX 68203839
chrX:68203858 C
C
 T
T
 27 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(24): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0019g0003
a0001c0001t0021g0150
a0001c0001t0030g0155
a0003c0004t0014g0102
 27 HG01081.hp2
HG01167.hp1
HG01169.hp1
others(24): Show 
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01255.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02486.hp1
HG02572.hp1
HG02630.hp2
HG02647.hp1
HG02809.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03471.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
NA18906.hp1
NA18906.hp2
 intron_variant MODIFIER c.934-2148G>A
c.934-2148G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 10/24 chrX 68203858
chrX:68203953 C
C
 T
T
 2 a0001c0001t0005g0152
a0001c0001t0019g0003
a0001c0001t0005g0152
a0001c0001t0019g0003
 2 HG02630.hp2
HG02809.hp2
HG02630.hp2
HG02809.hp2
 intron_variant MODIFIER c.934-2243G>A
c.934-2243G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 10/24 chrX 68203953
chrX:68204154 T
T
 G
G
 2 a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0125
a0001c0001t0002g0127
 2 HG01255.hp1
HG03540.hp1
HG01255.hp1
HG03540.hp1
 intron_variant MODIFIER c.933+2419A>C
c.933+2419A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 10/24 chrX 68204154
chrX:68204708 A
A
 G
G
 2 a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0125
a0001c0001t0002g0127
 2 HG01255.hp1
HG03540.hp1
HG01255.hp1
HG03540.hp1
 intron_variant MODIFIER c.933+1865T>C
c.933+1865T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 10/24 chrX 68204708
chrX:68204733 T
T
 C
C
 15 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(12): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0030g0155
a0003c0004t0014g0102
 15 HG01891.hp1
HG01891.hp2
HG02486.hp1
others(12): Show 
HG01891.hp1
HG01891.hp2
HG02486.hp1
HG02572.hp1
HG02886.hp1
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
NA18906.hp2
 intron_variant MODIFIER c.933+1840A>G
c.933+1840A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 10/24 chrX 68204733
chrX:68205398 A
A
 T
T
 1 a0001c0001t0007g0032
a0001c0001t0007g0032
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.933+1175T>A
c.933+1175T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 10/24 chrX 68205398
chrX:68205449 A
A
 AAAT
AAAT
 23 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(20): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0152
a0001c0001t0019g0003
a0001c0001t0021g0150
a0001c0001t0030g0155
a0003c0004t0014g0102
 23 HG01081.hp2
HG01255.hp1
HG01891.hp1
others(20): Show 
HG01081.hp2
HG01255.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02486.hp1
HG02572.hp1
HG02630.hp2
HG02809.hp2
HG02886.hp1
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03471.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
NA18906.hp1
NA18906.hp2
 intron_variant MODIFIER c.933+1121_933+1123d
others(5): Show 
c.933+1121_933+1123dupATT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 10/24 chrX 68205449
chrX:68205449 A
A
 AAATAAT
AAATAAT
 2 a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0006g0120
a0001c0001t0006g0121
 2 HG01167.hp1
HG01169.hp1
HG01167.hp1
HG01169.hp1
 intron_variant MODIFIER c.933+1118_933+1123d
others(8): Show 
c.933+1118_933+1123dupATTATT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 10/24 chrX 68205449
chrX:68205491 G
G
 A
A
 1 a0002c0002t0001g0002
a0002c0002t0001g0002
 1 HG01358.hp1
HG01358.hp1
 intron_variant MODIFIER c.933+1082C>T
c.933+1082C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 10/24 chrX 68205491
chrX:68205504 A
A
 G
G
 1 a0001c0001t0001g0080
a0001c0001t0001g0080
 1 HG03017.hp1
HG03017.hp1
 intron_variant MODIFIER c.933+1069T>C
c.933+1069T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 10/24 chrX 68205504
chrX:68205617 G
G
 A
A
 15 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(12): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0030g0155
a0003c0004t0014g0102
 15 HG01891.hp1
HG01891.hp2
HG02486.hp1
others(12): Show 
HG01891.hp1
HG01891.hp2
HG02486.hp1
HG02572.hp1
HG02886.hp1
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
NA18906.hp2
 intron_variant MODIFIER c.933+956C>T
c.933+956C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 10/24 chrX 68205617
chrX:68205681 A
A
 G
G
 2 a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0105
a0001c0001t0006g0106
 2 HG02647.hp1
HG02886.hp2
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.933+892T>C
c.933+892T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 10/24 chrX 68205681
chrX:68205969 A
A
 AGT
AGT
 3 a0001c0001t0004g0030
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0004g0030
a0001c0001t0006g0120
a0001c0001t0006g0121
 3 HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
 intron_variant MODIFIER c.933+602_933+603dup
others(2): Show 
c.933+602_933+603dupAC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 10/24 chrX 68205969
chrX:68205969 A
A
 AGTGT
AGTGT
 3 a0001c0001t0004g0026
a0001c0001t0004g0034
a0001c0001t0021g0150
a0001c0001t0004g0026
a0001c0001t0004g0034
a0001c0001t0021g0150
 3 HG02055.hp1
HG03471.hp1
NA18906.hp1
HG02055.hp1
HG03471.hp1
NA18906.hp1
 intron_variant MODIFIER c.933+600_933+603dup
others(4): Show 
c.933+600_933+603dupACAC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 10/24 chrX 68205969
chrX:68205969 A
A
 T
T
 1 a0001c0001t0020g0099
a0001c0001t0020g0099
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.933+604T>A
c.933+604T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 10/24 chrX 68205969
chrX:68205971 TGTGTGTG
others(1): Show 
TGTGTGTGA
 T
T
 11 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(8): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0111
a0001c0001t0003g0118
a0002c0002t0003g0001
a0003c0004t0014g0102
 11 HG02572.hp1
HG02886.hp1
HG02922.hp1
others(8): Show 
HG02572.hp1
HG02886.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
NA18906.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.933+594_933+601del
others(8): Show 
c.933+594_933+601delTCACACAC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 10/24 chrX 68205971
chrX:68205973 T
T
 TGA
TGA
 1 a0001c0001t0020g0099
a0001c0001t0020g0099
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.933+599_933+600ins
others(2): Show 
c.933+599_933+600insTC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 10/24 chrX 68205973
chrX:68205973 TGTGTGA
TGTGTGA
 T
T
 5 a0001c0001t0002g0133
a0001c0001t0004g0117
a0001c0001t0005g0107
others(2): Show 
a0001c0001t0002g0133
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0030g0155
 5 HG01891.hp1
HG01891.hp2
HG02486.hp1
others(2): Show 
HG01891.hp1
HG01891.hp2
HG02486.hp1
HG02895.hp1
HG03540.hp2
 intron_variant MODIFIER c.933+594_933+599del
others(6): Show 
c.933+594_933+599delTCACAC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 10/24 chrX 68205973
chrX:68205975 TGTGA
TGTGA
 T
T
 1 a0001c0001t0002g0127
a0001c0001t0002g0127
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.933+594_933+597del
others(4): Show 
c.933+594_933+597delTCAC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 10/24 chrX 68205975
chrX:68205977 TGA
TGA
 T
T
 4 a0001c0001t0002g0125
a0001c0001t0005g0152
a0001c0001t0006g0105
others(1): Show 
a0001c0001t0002g0125
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
 4 HG01255.hp1
HG02630.hp2
HG02647.hp1
others(1): Show 
HG01255.hp1
HG02630.hp2
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.933+594_933+595del
others(2): Show 
c.933+594_933+595delTC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 10/24 chrX 68205977
chrX:68205979 A
A
 AGT
AGT
 7 a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0002g0116
others(4): Show 
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0002g0116
a0001c0001t0004g0004
a0001c0001t0006g0013
a0001c0001t0008g0112
a0002c0002t0001g0002
 7 HG01258.hp1
HG01358.hp1
HG02071.hp1
others(4): Show 
HG01258.hp1
HG01358.hp1
HG02071.hp1
HG02109.hp1
HG02630.hp1
HG02818.hp2
HG03579.hp1
 intron_variant MODIFIER c.933+592_933+593dup
others(2): Show 
c.933+592_933+593dupAC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 10/24 chrX 68205979
chrX:68205979 A
A
 AGTGT
AGTGT
 31 a0001c0001t0001g0016
a0001c0001t0001g0025
a0001c0001t0001g0038
others(28): Show 
a0001c0001t0001g0016
a0001c0001t0001g0025
a0001c0001t0001g0038
a0001c0001t0001g0041
a0001c0001t0001g0059
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0002g0006
a0001c0001t0002g0021
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0091
a0001c0001t0003g0113
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0007g0022
a0001c0001t0016g0119
a0001c0001t0022g0103
a0001c0001t0024g0007
 31 HG00099.hp2
HG00735.hp2
HG01069.hp1
others(28): Show 
HG00099.hp2
HG00735.hp2
HG01069.hp1
HG01081.hp1
HG01256.hp1
HG01261.hp1
HG01515.hp1
HG02074.hp1
HG02132.hp1
HG02257.hp2
HG02258.hp1
HG02559.hp2
HG02602.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02818.hp1
HG02976.hp1
HG03017.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
NA18522.hp1
NA18612.hp1
NA18960.hp1
NA18966.hp1
NA19000.hp1
NA19007.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.933+590_933+593dup
others(4): Show 
c.933+590_933+593dupACAC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 10/24 chrX 68205979
chrX:68205979 A
A
 AGTGTGT
AGTGTGT
 10 a0001c0001t0001g0009
a0001c0001t0001g0068
a0001c0001t0001g0071
others(7): Show 
a0001c0001t0001g0009
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0145
a0001c0001t0002g0019
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0076
a0001c0001t0003g0101
 10 HG00642.hp1
HG01192.hp1
HG02109.hp2
others(7): Show 
HG00642.hp1
HG01192.hp1
HG02109.hp2
HG02280.hp1
HG02723.hp1
HG02809.hp1
NA18944.hp1
NA18995.hp1
NA19066.hp1
NA19068.hp1
 intron_variant MODIFIER c.933+588_933+593dup
others(6): Show 
c.933+588_933+593dupACACAC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 10/24 chrX 68205979
chrX:68205979 A
A
 AGTGTGTG
others(1): Show 
AGTGTGTGT
 54 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0028
others(51): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0049
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0066
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0141
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0123
a0001c0001t0003g0035
a0001c0001t0003g0065
a0001c0001t0003g0081
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0008g0096
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0015g0148
a0001c0001t0017g0036
a0001c0001t0023g0037
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0004c0005t0012g0024
 54 HG00099.hp1
HG00140.hp1
HG00621.hp1
others(51): Show 
HG00099.hp1
HG00140.hp1
HG00621.hp1
HG00735.hp1
HG01074.hp1
HG01099.hp1
HG01169.hp2
HG01243.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02027.hp1
HG02056.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02257.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02615.hp2
HG02698.hp1
HG02735.hp1
HG02922.hp2
HG03492.hp1
HG03688.hp1
HG03942.hp1
HG04115.hp1
HG04228.hp1
NA18747.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18955.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA19004.hp1
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19085.hp1
NA19088.hp1
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.933+586_933+593dup
others(8): Show 
c.933+586_933+593dupACACACAC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 10/24 chrX 68205979
chrX:68205979 A
A
 AGTGTGTG
others(3): Show 
AGTGTGTGTGT
 11 a0001c0001t0001g0027
a0001c0001t0001g0048
a0001c0001t0001g0050
others(8): Show 
a0001c0001t0001g0027
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0082
a0001c0001t0001g0154
a0001c0001t0003g0100
a0001c0001t0013g0042
a0001c0001t0028g0084
 11 HG00609.hp1
HG01106.hp1
HG01346.hp2
others(8): Show 
HG00609.hp1
HG01106.hp1
HG01346.hp2
HG02300.hp1
HG02738.hp1
HG03710.hp1
NA18952.hp1
NA18994.hp1
NA19005.hp1
NA19009.hp1
NA19070.hp1
 intron_variant MODIFIER c.933+584_933+593dup
others(10): Show 
c.933+584_933+593dupACACACACAC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 10/24 chrX 68205979
chrX:68205979 A
A
 AGTGTGTG
others(5): Show 
AGTGTGTGTGTGT
 5 a0001c0001t0001g0060
a0001c0001t0001g0079
a0001c0001t0001g0090
others(2): Show 
a0001c0001t0001g0060
a0001c0001t0001g0079
a0001c0001t0001g0090
a0001c0001t0002g0047
a0001c0001t0018g0104
 5 HG00280.hp1
HG00673.hp1
HG01433.hp1
others(2): Show 
HG00280.hp1
HG00673.hp1
HG01433.hp1
HG02015.hp1
NA20752.hp1
 intron_variant MODIFIER c.933+582_933+593dup
others(12): Show 
c.933+582_933+593dupACACACACACAC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 10/24 chrX 68205979
chrX:68205979 A
A
 AGTGTGTG
others(7): Show 
AGTGTGTGTGTGTGT
 1 a0001c0001t0001g0008
a0001c0001t0001g0008
 1 HG01346.hp1
HG01346.hp1
 intron_variant MODIFIER c.933+580_933+593dup
others(14): Show 
c.933+580_933+593dupACACACACACACAC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 10/24 chrX 68205979
chrX:68205979 A
A
 T
T
 8 a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
others(5): Show 
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
 8 HG00738.hp1
HG01081.hp2
HG01167.hp1
others(5): Show 
HG00738.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG02055.hp1
HG02809.hp2
HG03471.hp1
NA18906.hp1
 intron_variant MODIFIER c.933+594T>A
c.933+594T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 10/24 chrX 68205979
chrX:68205979 AGT
AGT
 A
A
 3 a0001c0001t0002g0115
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0002g0115
a0001c0001t0007g0023
a0001c0001t0007g0033
 3 HG02145.hp1
HG02559.hp1
NA19030.hp1
HG02145.hp1
HG02559.hp1
NA19030.hp1
 intron_variant MODIFIER c.933+592_933+593del
others(2): Show 
c.933+592_933+593delAC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 10/24 chrX 68205979
chrX:68206011 T
T
 TGTGTGTG
TGTGTGTG
 1 a0001c0001t0003g0109
a0001c0001t0003g0109
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.933+561_933+562ins
others(7): Show 
c.933+561_933+562insCACACAC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 10/24 chrX 68206011
chrX:68206012 T
T
 G
G
 1 a0001c0001t0003g0063
a0001c0001t0003g0063
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.933+561A>C
c.933+561A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 10/24 chrX 68206012
chrX:68206550 A
A
 T
T
 4 a0001c0001t0001g0027
a0001c0001t0001g0041
a0001c0001t0001g0092
others(1): Show 
a0001c0001t0001g0027
a0001c0001t0001g0041
a0001c0001t0001g0092
a0001c0001t0024g0007
 4 NA18960.hp1
NA18994.hp1
NA19000.hp1
others(1): Show 
NA18960.hp1
NA18994.hp1
NA19000.hp1
NA19007.hp1
 intron_variant MODIFIER c.933+23T>A
c.933+23T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 10/24 chrX 68206550
chrX:68206808 G
G
 A
A
 3 a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
 3 HG02280.hp2
HG02451.hp2
HG02922.hp2
HG02280.hp2
HG02451.hp2
HG02922.hp2
 intron_variant MODIFIER c.833-135C>T
c.833-135C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 9/24 chrX 68206808
chrX:68206923 A
A
 G
G
 3 a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0016g0119
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0016g0119
 3 HG02683.hp1
HG02683.hp2
HG03490.hp1
HG02683.hp1
HG02683.hp2
HG03490.hp1
 intron_variant MODIFIER c.833-250T>C
c.833-250T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 9/24 chrX 68206923
chrX:68207132 AT
AT
 A
A
 13 a0001c0001t0001g0009
a0001c0001t0002g0014
a0001c0001t0002g0108
others(10): Show 
a0001c0001t0001g0009
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0003g0063
a0001c0001t0004g0026
a0001c0001t0004g0095
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
 13 HG01167.hp1
HG01169.hp1
HG01255.hp1
others(10): Show 
HG01167.hp1
HG01169.hp1
HG01255.hp1
HG02647.hp1
HG02886.hp2
HG02922.hp1
HG03098.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG04199.hp1
NA18906.hp1
NA18995.hp1
 intron_variant MODIFIER c.833-460delA
c.833-460delA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 9/24 chrX 68207132
chrX:68207194 T
T
 C
C
 2 a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0125
a0001c0001t0002g0127
 2 HG01255.hp1
HG03540.hp1
HG01255.hp1
HG03540.hp1
 intron_variant MODIFIER c.833-521A>G
c.833-521A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 9/24 chrX 68207194
chrX:68207286 G
G
 A
A
 2 a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0105
a0001c0001t0006g0106
 2 HG02647.hp1
HG02886.hp2
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.833-613C>T
c.833-613C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 9/24 chrX 68207286
chrX:68207289 C
C
 T
T
 32 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(29): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0032
a0001c0001t0019g0003
a0001c0001t0021g0150
a0001c0001t0030g0155
a0003c0004t0014g0102
 32 HG01081.hp2
HG01167.hp1
HG01169.hp1
others(29): Show 
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01255.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02572.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02809.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03471.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
NA18906.hp1
NA18906.hp2
 intron_variant MODIFIER c.833-616G>A
c.833-616G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 9/24 chrX 68207289
chrX:68207298 T
T
 C
C
 8 a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
others(5): Show 
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0005g0152
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0019g0003
a0001c0001t0021g0150
 8 HG01081.hp2
HG01167.hp1
HG01169.hp1
others(5): Show 
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG02055.hp1
HG02630.hp2
HG02809.hp2
HG03471.hp1
NA18906.hp1
 intron_variant MODIFIER c.833-625A>G
c.833-625A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 9/24 chrX 68207298
chrX:68207711 C
C
 G
G
 5 a0001c0001t0003g0101
a0001c0001t0003g0151
a0001c0001t0004g0094
others(2): Show 
a0001c0001t0003g0101
a0001c0001t0003g0151
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0007g0022
 5 HG02723.hp1
HG03209.hp1
HG03516.hp1
others(2): Show 
HG02723.hp1
HG03209.hp1
HG03516.hp1
NA18522.hp1
NA19030.hp2
 intron_variant MODIFIER c.833-1038G>C
c.833-1038G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 9/24 chrX 68207711
chrX:68207945 T
T
 G
G
 31 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(28): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0004
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0032
a0001c0001t0019g0003
a0001c0001t0021g0150
a0001c0001t0030g0155
a0003c0004t0014g0102
 31 HG01081.hp2
HG01167.hp1
HG01169.hp1
others(28): Show 
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01255.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02109.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02572.hp1
HG02630.hp1
HG02630.hp2
HG02809.hp2
HG02886.hp1
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03471.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
NA18906.hp1
NA18906.hp2
 intron_variant MODIFIER c.833-1272A>C
c.833-1272A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 9/24 chrX 68207945
chrX:68208079 ATTCT
ATTCT
 A
A
 1 a0001c0001t0017g0036
a0001c0001t0017g0036
 1 HG01952.hp1
HG01952.hp1
 intron_variant MODIFIER c.833-1410_833-1407d
others(6): Show 
c.833-1410_833-1407delAGAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 9/24 chrX 68208079
chrX:68208124 T
T
 C
C
 2 a0001c0001t0005g0152
a0001c0001t0019g0003
a0001c0001t0005g0152
a0001c0001t0019g0003
 2 HG02630.hp2
HG02809.hp2
HG02630.hp2
HG02809.hp2
 intron_variant MODIFIER c.833-1451A>G
c.833-1451A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 9/24 chrX 68208124
chrX:68208327 G
G
 A
A
 1 a0001c0001t0001g0008
a0001c0001t0001g0008
 1 HG01346.hp1
HG01346.hp1
 intron_variant MODIFIER c.833-1654C>T
c.833-1654C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 9/24 chrX 68208327
chrX:68208725 A
A
 T
T
 1 a0001c0001t0003g0101
a0001c0001t0003g0101
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.832+1428T>A
c.832+1428T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 9/24 chrX 68208725
chrX:68208831 G
G
 A
A
 1 a0001c0001t0006g0013
a0001c0001t0006g0013
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.832+1322C>T
c.832+1322C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 9/24 chrX 68208831
chrX:68209476 G
G
 A
A
 1 a0001c0001t0009g0128
a0001c0001t0009g0128
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.832+677C>T
c.832+677C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 9/24 chrX 68209476
chrX:68209615 T
T
 C
C
 111 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(108): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0007g0022
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 111 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(108): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02300.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02976.hp1
HG03017.hp1
HG03209.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.832+538A>G
c.832+538A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 9/24 chrX 68209615
chrX:68209742 T
T
 G
G
 1 a0001c0001t0002g0144
a0001c0001t0002g0144
 1 HG02132.hp1
HG02132.hp1
 intron_variant MODIFIER c.832+411A>C
c.832+411A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 9/24 chrX 68209742
chrX:68209992 C
C
 CT
CT
 1 a0001c0001t0002g0115
a0001c0001t0002g0115
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.832+160dupA
c.832+160dupA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 9/24 chrX 68209992
chrX:68209992 CT
CT
 C
C
 142 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0016
others(139): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0032
a0001c0001t0008g0112
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 142 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(139): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.832+160delA
c.832+160delA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 9/24 chrX 68209992
chrX:68210027 C
C
 T
T
 1 a0001c0001t0008g0096
a0001c0001t0008g0096
 1 HG02257.hp1
HG02257.hp1
 intron_variant MODIFIER c.832+126G>A
c.832+126G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 9/24 chrX 68210027
chrX:68210528 T
T
 C
C
 1 a0001c0001t0020g0099
a0001c0001t0020g0099
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.703-246A>G
c.703-246A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 8/24 chrX 68210528
chrX:68210568 A
A
 G
G
 2 a0001c0001t0001g0146
a0001c0001t0016g0119
a0001c0001t0001g0146
a0001c0001t0016g0119
 2 HG02683.hp1
HG02683.hp2
HG02683.hp1
HG02683.hp2
 intron_variant MODIFIER c.703-286T>C
c.703-286T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 8/24 chrX 68210568
chrX:68210903 G
G
 C
C
 2 a0001c0001t0005g0152
a0001c0001t0019g0003
a0001c0001t0005g0152
a0001c0001t0019g0003
 2 HG02630.hp2
HG02809.hp2
HG02630.hp2
HG02809.hp2
 intron_variant MODIFIER c.703-621C>G
c.703-621C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 8/24 chrX 68210903
chrX:68211181 A
A
 T
T
 2 a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0125
a0001c0001t0002g0127
 2 HG01255.hp1
HG03540.hp1
HG01255.hp1
HG03540.hp1
 intron_variant MODIFIER c.703-899T>A
c.703-899T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 8/24 chrX 68211181
chrX:68211216 AT
AT
 A
A
 140 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(137): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0008g0112
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 140 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(137): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02300.hp1
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.702+891delA
c.702+891delA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 8/24 chrX 68211216
chrX:68211329 C
C
 A
A
 1 a0001c0001t0003g0076
a0001c0001t0003g0076
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.702+779G>T
c.702+779G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 8/24 chrX 68211329
chrX:68211706 G
G
 T
T
 2 a0001c0001t0005g0152
a0001c0001t0019g0003
a0001c0001t0005g0152
a0001c0001t0019g0003
 2 HG02630.hp2
HG02809.hp2
HG02630.hp2
HG02809.hp2
 intron_variant MODIFIER c.702+402C>A
c.702+402C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 8/24 chrX 68211706
chrX:68211972 A
A
 G
G
 82 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(79): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0141
a0001c0001t0001g0145
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0123
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0100
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 82 HG00099.hp1
HG00140.hp1
HG00280.hp1
others(79): Show 
HG00099.hp1
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00673.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02074.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02300.hp1
HG02615.hp2
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG03017.hp1
HG03492.hp1
HG03688.hp1
HG03710.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.702+136T>C
c.702+136T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 8/24 chrX 68211972
chrX:68212079 C
C
 T
T
 19 a0001c0001t0001g0038
a0001c0001t0001g0044
a0001c0001t0001g0071
others(16): Show 
a0001c0001t0001g0038
a0001c0001t0001g0044
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0002g0124
a0001c0001t0002g0144
a0001c0001t0003g0101
a0001c0001t0003g0113
a0001c0001t0003g0122
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0007g0022
a0001c0001t0016g0119
a0001c0001t0022g0103
 19 HG00642.hp1
HG00735.hp2
HG01081.hp1
others(16): Show 
HG00642.hp1
HG00735.hp2
HG01081.hp1
HG02071.hp1
HG02132.hp1
HG02602.hp1
HG02683.hp1
HG02683.hp2
HG02723.hp1
HG02723.hp2
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03942.hp1
NA18522.hp1
NA18612.hp1
NA18966.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.702+29G>A
c.702+29G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 8/24 chrX 68212079
chrX:68212278 T
T
 C
C
 1 a0001c0001t0001g0082
a0001c0001t0001g0082
 1 HG03710.hp1
HG03710.hp1
 intron_variant MODIFIER c.598-66A>G
c.598-66A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 7/24 chrX 68212278
chrX:68212376 G
G
 A
A
 1 a0001c0001t0004g0004
a0001c0001t0004g0004
 1 HG02109.hp1
HG02109.hp1
 intron_variant MODIFIER c.598-164C>T
c.598-164C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 7/24 chrX 68212376
chrX:68212457 C
C
 T
T
 82 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(79): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0141
a0001c0001t0001g0145
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0123
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0100
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 82 HG00099.hp1
HG00140.hp1
HG00280.hp1
others(79): Show 
HG00099.hp1
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00673.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02074.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02300.hp1
HG02615.hp2
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG03017.hp1
HG03492.hp1
HG03688.hp1
HG03710.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.598-245G>A
c.598-245G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 7/24 chrX 68212457
chrX:68212770 T
T
 C
C
 148 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(145): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0032
a0001c0001t0008g0112
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 148 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(145): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.598-558A>G
c.598-558A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 7/24 chrX 68212770
chrX:68213189 T
T
 C
C
 1 a0001c0001t0007g0032
a0001c0001t0007g0032
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.597+673A>G
c.597+673A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 7/24 chrX 68213189
chrX:68213384 A
A
 G
G
 31 a0001c0001t0001g0038
a0001c0001t0001g0044
a0001c0001t0001g0071
others(28): Show 
a0001c0001t0001g0038
a0001c0001t0001g0044
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0022
a0001c0001t0020g0099
a0001c0001t0022g0103
 31 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(28): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG02071.hp1
HG02109.hp2
HG02132.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03942.hp1
NA18522.hp1
NA18612.hp1
NA18966.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.597+478T>C
c.597+478T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 7/24 chrX 68213384
chrX:68213410 T
T
 A
A
 15 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(12): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0008g0112
a0001c0001t0030g0155
 15 HG01891.hp2
HG02486.hp1
HG02572.hp1
others(12): Show 
HG01891.hp2
HG02486.hp1
HG02572.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.597+452A>T
c.597+452A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 7/24 chrX 68213410
chrX:68213548 G
G
 A
A
 2 a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0125
a0001c0001t0002g0127
 2 HG01255.hp1
HG03540.hp1
HG01255.hp1
HG03540.hp1
 intron_variant MODIFIER c.597+314C>T
c.597+314C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 7/24 chrX 68213548
chrX:68213723 G
G
 A
A
 1 a0001c0001t0003g0063
a0001c0001t0003g0063
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.597+139C>T
c.597+139C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 7/24 chrX 68213723
chrX:68213729 T
T
 C
C
 1 a0001c0001t0001g0140
a0001c0001t0001g0140
 1 NA18966.hp1
NA18966.hp1
 intron_variant MODIFIER c.597+133A>G
c.597+133A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 7/24 chrX 68213729
chrX:68214044 C
C
 G
G
 2 a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0054
a0001c0001t0002g0055
 2 NA18983.hp1
NA18986.hp1
NA18983.hp1
NA18986.hp1
 intron_variant MODIFIER c.487-72G>C
c.487-72G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68214044
chrX:68214907 G
G
 C
C
 1 a0001c0001t0001g0009
a0001c0001t0001g0009
 1 NA18995.hp1
NA18995.hp1
 intron_variant MODIFIER c.487-935C>G
c.487-935C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68214907
chrX:68215079 C
C
 T
T
 3 a0001c0001t0001g0008
a0001c0001t0001g0079
a0001c0001t0001g0090
a0001c0001t0001g0008
a0001c0001t0001g0079
a0001c0001t0001g0090
 3 HG01346.hp1
HG01433.hp1
NA20752.hp1
HG01346.hp1
HG01433.hp1
NA20752.hp1
 intron_variant MODIFIER c.487-1107G>A
c.487-1107G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68215079
chrX:68215905 G
G
 A
A
 9 a0001c0001t0001g0016
a0001c0001t0001g0046
a0001c0001t0001g0059
others(6): Show 
a0001c0001t0001g0016
a0001c0001t0001g0046
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0069
a0001c0001t0001g0074
a0001c0001t0001g0132
a0001c0001t0027g0072
a0004c0005t0012g0024
 9 HG00099.hp1
HG00140.hp1
HG01069.hp1
others(6): Show 
HG00099.hp1
HG00140.hp1
HG01069.hp1
HG01169.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01928.hp1
HG02300.hp1
 intron_variant MODIFIER c.487-1933C>T
c.487-1933C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68215905
chrX:68215975 T
T
 G
G
 31 a0001c0001t0001g0038
a0001c0001t0001g0044
a0001c0001t0001g0071
others(28): Show 
a0001c0001t0001g0038
a0001c0001t0001g0044
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0007g0022
a0001c0001t0016g0119
a0001c0001t0020g0099
a0001c0001t0022g0103
 31 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(28): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG02071.hp1
HG02109.hp2
HG02132.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03942.hp1
NA18522.hp1
NA18612.hp1
NA18966.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.487-2003A>C
c.487-2003A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68215975
chrX:68216493 T
T
 C
C
 1 a0001c0001t0007g0032
a0001c0001t0007g0032
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.487-2521A>G
c.487-2521A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68216493
chrX:68216937 A
A
 G
G
 15 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(12): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0008g0112
a0001c0001t0030g0155
 15 HG01891.hp2
HG02486.hp1
HG02572.hp1
others(12): Show 
HG01891.hp2
HG02486.hp1
HG02572.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.487-2965T>C
c.487-2965T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68216937
chrX:68217018 G
G
 A
A
 1 a0001c0001t0002g0127
a0001c0001t0002g0127
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.487-3046C>T
c.487-3046C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68217018
chrX:68217054 G
G
 C
C
 141 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(138): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0008g0112
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 141 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(138): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02300.hp1
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.487-3082C>G
c.487-3082C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68217054
chrX:68217061 G
G
 C
C
 2 a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0125
a0001c0001t0002g0127
 2 HG01255.hp1
HG03540.hp1
HG01255.hp1
HG03540.hp1
 intron_variant MODIFIER c.487-3089C>G
c.487-3089C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68217061
chrX:68217070 C
C
 T
T
 2 a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0125
a0001c0001t0002g0127
 2 HG01255.hp1
HG03540.hp1
HG01255.hp1
HG03540.hp1
 intron_variant MODIFIER c.487-3098G>A
c.487-3098G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68217070
chrX:68217086 C
C
 T
T
 1 a0002c0002t0001g0002
a0002c0002t0001g0002
 1 HG01358.hp1
HG01358.hp1
 intron_variant MODIFIER c.487-3114G>A
c.487-3114G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68217086
chrX:68217096 C
C
 A
A
 1 a0001c0001t0004g0117
a0001c0001t0004g0117
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.487-3124G>T
c.487-3124G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68217096
chrX:68217124 A
A
 AG
AG
 1 a0001c0001t0001g0147
a0001c0001t0001g0147
 1 HG01934.hp1
HG01934.hp1
 intron_variant MODIFIER c.487-3153dupC
c.487-3153dupC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68217124
chrX:68217140 C
C
 T
T
 1 a0002c0002t0003g0001
a0002c0002t0003g0001
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.487-3168G>A
c.487-3168G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68217140
chrX:68217172 G
G
 A
A
 3 a0001c0001t0008g0096
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0008g0096
a0001c0001t0009g0128
a0001c0001t0009g0129
 3 HG01243.hp1
HG02257.hp1
HG02451.hp1
HG01243.hp1
HG02257.hp1
HG02451.hp1
 intron_variant MODIFIER c.487-3200C>T
c.487-3200C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68217172
chrX:68217206 C
C
 T
T
 1 a0001c0001t0001g0149
a0001c0001t0001g0149
 1 NA20805.hp1
NA20805.hp1
 intron_variant MODIFIER c.487-3234G>A
c.487-3234G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68217206
chrX:68217234 G
G
 C
C
 6 a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
others(3): Show 
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0021g0150
 6 HG01081.hp2
HG01167.hp1
HG01169.hp1
others(3): Show 
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG02055.hp1
HG03471.hp1
NA18906.hp1
 intron_variant MODIFIER c.487-3262C>G
c.487-3262C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68217234
chrX:68217380 A
A
 G
G
 130 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(127): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0145
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0022
a0001c0001t0008g0112
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 130 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(127): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02300.hp1
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.487-3408T>C
c.487-3408T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68217380
chrX:68217380 A
A
 T
T
 3 a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0016g0119
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0016g0119
 3 HG02683.hp1
HG02683.hp2
HG03490.hp1
HG02683.hp1
HG02683.hp2
HG03490.hp1
 intron_variant MODIFIER c.487-3408T>A
c.487-3408T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68217380
chrX:68217422 C
C
 T
T
 2 a0001c0001t0002g0135
a0001c0001t0003g0111
a0001c0001t0002g0135
a0001c0001t0003g0111
 2 HG02976.hp2
NA18906.hp2
HG02976.hp2
NA18906.hp2
 intron_variant MODIFIER c.487-3450G>A
c.487-3450G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68217422
chrX:68217447 T
T
 A
A
 1 a0001c0001t0030g0155
a0001c0001t0030g0155
 1 HG02895.hp1
HG02895.hp1
 intron_variant MODIFIER c.487-3475A>T
c.487-3475A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68217447
chrX:68217567 T
T
 C
C
 132 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(129): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0022
a0001c0001t0007g0032
a0001c0001t0008g0112
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 132 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(129): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02300.hp1
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.487-3595A>G
c.487-3595A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68217567
chrX:68217587 C
C
 T
T
 33 a0001c0001t0001g0038
a0001c0001t0001g0044
a0001c0001t0001g0071
others(30): Show 
a0001c0001t0001g0038
a0001c0001t0001g0044
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0007g0022
a0001c0001t0016g0119
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0022g0103
 33 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(30): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG02071.hp1
HG02109.hp2
HG02132.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03942.hp1
NA18522.hp1
NA18612.hp1
NA18966.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.487-3615G>A
c.487-3615G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68217587
chrX:68217823 T
T
 TG
TG
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.487-3852dupC
c.487-3852dupC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68217823
chrX:68217843 AAAACCGG
AAAACCGG
 A
A
 82 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(79): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0141
a0001c0001t0001g0145
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0123
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0100
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 82 HG00099.hp1
HG00140.hp1
HG00280.hp1
others(79): Show 
HG00099.hp1
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00673.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02074.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02300.hp1
HG02615.hp2
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG03017.hp1
HG03492.hp1
HG03688.hp1
HG03710.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.487-3878_487-3872d
others(9): Show 
c.487-3878_487-3872delCCGGTTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68217843
chrX:68217849 G
G
 A
A
 1 a0001c0001t0004g0010
a0001c0001t0004g0010
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.487-3877C>T
c.487-3877C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68217849
chrX:68217870 G
G
 A
A
 82 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(79): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0141
a0001c0001t0001g0145
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0123
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0100
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 82 HG00099.hp1
HG00140.hp1
HG00280.hp1
others(79): Show 
HG00099.hp1
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00673.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02074.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02300.hp1
HG02615.hp2
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG03017.hp1
HG03492.hp1
HG03688.hp1
HG03710.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.487-3898C>T
c.487-3898C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68217870
chrX:68217988 A
A
 G
G
 132 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(129): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0022
a0001c0001t0008g0112
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 132 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(129): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02300.hp1
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.487-4016T>C
c.487-4016T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68217988
chrX:68218106 C
C
 T
T
 4 a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
others(1): Show 
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0003c0004t0014g0102
 4 HG02280.hp2
HG02451.hp2
HG02886.hp1
others(1): Show 
HG02280.hp2
HG02451.hp2
HG02886.hp1
HG02922.hp2
 intron_variant MODIFIER c.487-4134G>A
c.487-4134G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68218106
chrX:68218155 G
G
 A
A
 30 a0001c0001t0001g0038
a0001c0001t0001g0044
a0001c0001t0001g0071
others(27): Show 
a0001c0001t0001g0038
a0001c0001t0001g0044
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0007g0022
a0001c0001t0016g0119
a0001c0001t0022g0103
 30 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(27): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG01081.hp1
HG02071.hp1
HG02109.hp2
HG02132.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03942.hp1
NA18522.hp1
NA18612.hp1
NA18966.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.487-4183C>T
c.487-4183C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68218155
chrX:68218162 T
T
 A
A
 15 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(12): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0008g0112
a0001c0001t0030g0155
 15 HG01891.hp2
HG02486.hp1
HG02572.hp1
others(12): Show 
HG01891.hp2
HG02486.hp1
HG02572.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.487-4190A>T
c.487-4190A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68218162
chrX:68218209 T
T
 C
C
 2 a0001c0001t0001g0093
a0001c0001t0003g0081
a0001c0001t0001g0093
a0001c0001t0003g0081
 2 HG00735.hp1
HG03492.hp1
HG00735.hp1
HG03492.hp1
 intron_variant MODIFIER c.487-4237A>G
c.487-4237A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68218209
chrX:68218307 T
T
 C
C
 117 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(114): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0022
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 117 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(114): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02300.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02976.hp1
HG03017.hp1
HG03209.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.487-4335A>G
c.487-4335A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68218307
chrX:68218312 C
C
 A
A
 6 a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
others(3): Show 
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0021g0150
 6 HG01081.hp2
HG01167.hp1
HG01169.hp1
others(3): Show 
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG02055.hp1
HG03471.hp1
NA18906.hp1
 intron_variant MODIFIER c.487-4340G>T
c.487-4340G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68218312
chrX:68218370 A
A
 G
G
 132 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(129): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0022
a0001c0001t0008g0112
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 132 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(129): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02300.hp1
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.487-4398T>C
c.487-4398T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68218370
chrX:68218376 A
A
 C
C
 132 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(129): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0022
a0001c0001t0008g0112
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 132 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(129): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02300.hp1
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.487-4404T>G
c.487-4404T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68218376
chrX:68218377 T
T
 A
A
 132 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(129): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0022
a0001c0001t0008g0112
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 132 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(129): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02300.hp1
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.487-4405A>T
c.487-4405A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68218377
chrX:68218457 G
G
 A
A
 1 a0001c0001t0002g0133
a0001c0001t0002g0133
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.487-4485C>T
c.487-4485C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68218457
chrX:68218503 G
G
 GA
GA
 1 a0001c0001t0001g0029
a0001c0001t0001g0029
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.487-4532dupT
c.487-4532dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68218503
chrX:68218536 C
C
 G
G
 82 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(79): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0141
a0001c0001t0001g0145
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0123
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0100
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 82 HG00099.hp1
HG00140.hp1
HG00280.hp1
others(79): Show 
HG00099.hp1
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00673.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02074.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02300.hp1
HG02615.hp2
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG03017.hp1
HG03492.hp1
HG03688.hp1
HG03710.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.487-4564G>C
c.487-4564G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68218536
chrX:68218557 C
C
 T
T
 1 a0001c0001t0006g0105
a0001c0001t0006g0105
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.487-4585G>A
c.487-4585G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68218557
chrX:68218560 A
A
 C
C
 1 a0001c0001t0006g0105
a0001c0001t0006g0105
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.487-4588T>G
c.487-4588T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68218560
chrX:68218637 A
A
 G
G
 15 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(12): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0008g0112
a0001c0001t0030g0155
 15 HG01891.hp2
HG02486.hp1
HG02572.hp1
others(12): Show 
HG01891.hp2
HG02486.hp1
HG02572.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.487-4665T>C
c.487-4665T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68218637
chrX:68218749 A
A
 G
G
 1 a0001c0001t0007g0022
a0001c0001t0007g0022
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.487-4777T>C
c.487-4777T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68218749
chrX:68218788 A
A
 G
G
 2 a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0105
a0001c0001t0006g0106
 2 HG02647.hp1
HG02886.hp2
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.487-4816T>C
c.487-4816T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68218788
chrX:68218803 C
C
 T
T
 132 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(129): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0022
a0001c0001t0008g0112
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 132 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(129): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02300.hp1
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.487-4831G>A
c.487-4831G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68218803
chrX:68218818 C
C
 A
A
 19 a0001c0001t0001g0038
a0001c0001t0001g0044
a0001c0001t0001g0071
others(16): Show 
a0001c0001t0001g0038
a0001c0001t0001g0044
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0002g0124
a0001c0001t0002g0144
a0001c0001t0003g0101
a0001c0001t0003g0113
a0001c0001t0003g0122
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0007g0022
a0001c0001t0016g0119
a0001c0001t0022g0103
 19 HG00642.hp1
HG00735.hp2
HG01081.hp1
others(16): Show 
HG00642.hp1
HG00735.hp2
HG01081.hp1
HG02071.hp1
HG02132.hp1
HG02602.hp1
HG02683.hp1
HG02683.hp2
HG02723.hp1
HG02723.hp2
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03942.hp1
NA18522.hp1
NA18612.hp1
NA18966.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.487-4846G>T
c.487-4846G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68218818
chrX:68218994 A
A
 T
T
 82 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(79): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0141
a0001c0001t0001g0145
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0123
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0100
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 82 HG00099.hp1
HG00140.hp1
HG00280.hp1
others(79): Show 
HG00099.hp1
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00673.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02074.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02300.hp1
HG02615.hp2
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG03017.hp1
HG03492.hp1
HG03688.hp1
HG03710.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.487-5022T>A
c.487-5022T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68218994
chrX:68219181 G
G
 C
C
 1 a0001c0001t0002g0115
a0001c0001t0002g0115
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.487-5209C>G
c.487-5209C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68219181
chrX:68219266 C
C
 A
A
 35 a0001c0001t0001g0038
a0001c0001t0001g0044
a0001c0001t0001g0071
others(32): Show 
a0001c0001t0001g0038
a0001c0001t0001g0044
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0022
a0001c0001t0016g0119
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0022g0103
 35 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(32): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG02071.hp1
HG02109.hp2
HG02132.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03942.hp1
NA18522.hp1
NA18612.hp1
NA18966.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.487-5294G>T
c.487-5294G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68219266
chrX:68219267 A
A
 C
C
 36 a0001c0001t0001g0038
a0001c0001t0001g0044
a0001c0001t0001g0071
others(33): Show 
a0001c0001t0001g0038
a0001c0001t0001g0044
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0022
a0001c0001t0016g0119
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
 36 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(33): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG02071.hp1
HG02109.hp2
HG02132.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02976.hp1
HG03209.hp1
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03942.hp1
NA18522.hp1
NA18612.hp1
NA18966.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.487-5295T>G
c.487-5295T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68219267
chrX:68219384 C
C
 T
T
 1 a0001c0001t0015g0148
a0001c0001t0015g0148
 1 HG01943.hp1
HG01943.hp1
 intron_variant MODIFIER c.487-5412G>A
c.487-5412G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68219384
chrX:68219396 T
T
 C
C
 132 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(129): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0022
a0001c0001t0008g0112
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 132 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(129): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02300.hp1
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.487-5424A>G
c.487-5424A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68219396
chrX:68219426 G
G
 A
A
 2 a0001c0001t0001g0146
a0001c0001t0016g0119
a0001c0001t0001g0146
a0001c0001t0016g0119
 2 HG02683.hp1
HG02683.hp2
HG02683.hp1
HG02683.hp2
 intron_variant MODIFIER c.487-5454C>T
c.487-5454C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68219426
chrX:68219431 T
T
 G
G
 132 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(129): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0022
a0001c0001t0008g0112
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 132 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(129): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02300.hp1
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.487-5459A>C
c.487-5459A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68219431
chrX:68219482 T
T
 A
A
 2 a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0105
a0001c0001t0006g0106
 2 HG02647.hp1
HG02886.hp2
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.487-5510A>T
c.487-5510A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68219482
chrX:68219510 A
A
 G
G
 4 a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
others(1): Show 
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0003c0004t0014g0102
 4 HG02280.hp2
HG02451.hp2
HG02886.hp1
others(1): Show 
HG02280.hp2
HG02451.hp2
HG02886.hp1
HG02922.hp2
 intron_variant MODIFIER c.487-5538T>C
c.487-5538T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68219510
chrX:68219620 C
C
 T
T
 1 a0001c0001t0020g0099
a0001c0001t0020g0099
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.487-5648G>A
c.487-5648G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68219620
chrX:68219630 T
T
 C
C
 2 a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0105
a0001c0001t0006g0106
 2 HG02647.hp1
HG02886.hp2
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.487-5658A>G
c.487-5658A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68219630
chrX:68219871 A
A
 C
C
 141 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(138): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0008g0112
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 141 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(138): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02300.hp1
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.487-5899T>G
c.487-5899T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68219871
chrX:68219941 T
T
 G
G
 2 a0001c0001t0001g0015
a0001c0001t0003g0122
a0001c0001t0001g0015
a0001c0001t0003g0122
 2 NA19004.hp1
NA19043.hp1
NA19004.hp1
NA19043.hp1
 intron_variant MODIFIER c.487-5969A>C
c.487-5969A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68219941
chrX:68219993 C
C
 G
G
 15 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(12): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0008g0112
a0001c0001t0030g0155
 15 HG01891.hp2
HG02486.hp1
HG02572.hp1
others(12): Show 
HG01891.hp2
HG02486.hp1
HG02572.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.487-6021G>C
c.487-6021G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68219993
chrX:68220075 G
G
 A
A
 1 a0001c0001t0008g0096
a0001c0001t0008g0096
 1 HG02257.hp1
HG02257.hp1
 intron_variant MODIFIER c.487-6103C>T
c.487-6103C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68220075
chrX:68220212 T
T
 C
C
 31 a0001c0001t0001g0038
a0001c0001t0001g0044
a0001c0001t0001g0071
others(28): Show 
a0001c0001t0001g0038
a0001c0001t0001g0044
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0007g0022
a0001c0001t0016g0119
a0001c0001t0020g0099
a0001c0001t0022g0103
 31 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(28): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG02071.hp1
HG02109.hp2
HG02132.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03942.hp1
NA18522.hp1
NA18612.hp1
NA18966.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.487-6240A>G
c.487-6240A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68220212
chrX:68220247 T
T
 C
C
 1 a0001c0001t0001g0049
a0001c0001t0001g0049
 1 NA18945.hp1
NA18945.hp1
 intron_variant MODIFIER c.487-6275A>G
c.487-6275A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68220247
chrX:68220251 T
T
 G
G
 132 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(129): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0022
a0001c0001t0008g0112
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 132 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(129): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02300.hp1
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.487-6279A>C
c.487-6279A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68220251
chrX:68220468 G
G
 A
A
 15 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(12): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0008g0112
a0001c0001t0030g0155
 15 HG01891.hp2
HG02486.hp1
HG02572.hp1
others(12): Show 
HG01891.hp2
HG02486.hp1
HG02572.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.487-6496C>T
c.487-6496C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68220468
chrX:68220524 A
A
 T
T
 15 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(12): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0008g0112
a0001c0001t0030g0155
 15 HG01891.hp2
HG02486.hp1
HG02572.hp1
others(12): Show 
HG01891.hp2
HG02486.hp1
HG02572.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.487-6552T>A
c.487-6552T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68220524
chrX:68220543 G
G
 A
A
 1 a0001c0001t0002g0115
a0001c0001t0002g0115
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.487-6571C>T
c.487-6571C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68220543
chrX:68220548 A
A
 C
C
 4 a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
others(1): Show 
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0003c0004t0014g0102
 4 HG02280.hp2
HG02451.hp2
HG02886.hp1
others(1): Show 
HG02280.hp2
HG02451.hp2
HG02886.hp1
HG02922.hp2
 intron_variant MODIFIER c.487-6576T>G
c.487-6576T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68220548
chrX:68220626 T
T
 C
C
 15 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(12): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0008g0112
a0001c0001t0030g0155
 15 HG01891.hp2
HG02486.hp1
HG02572.hp1
others(12): Show 
HG01891.hp2
HG02486.hp1
HG02572.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.487-6654A>G
c.487-6654A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68220626
chrX:68220731 AC
AC
 A
A
 1 a0001c0001t0006g0013
a0001c0001t0006g0013
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.487-6760delG
c.487-6760delG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68220731
chrX:68220780 T
T
 G
G
 2 a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0105
a0001c0001t0006g0106
 2 HG02647.hp1
HG02886.hp2
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.487-6808A>C
c.487-6808A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68220780
chrX:68220863 A
A
 G
G
 1 a0001c0001t0001g0080
a0001c0001t0001g0080
 1 HG03017.hp1
HG03017.hp1
 intron_variant MODIFIER c.487-6891T>C
c.487-6891T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68220863
chrX:68220879 G
G
 A
A
 1 a0001c0001t0003g0035
a0001c0001t0003g0035
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.487-6907C>T
c.487-6907C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68220879
chrX:68220899 T
T
 C
C
 84 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(81): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0141
a0001c0001t0001g0145
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0123
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0100
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 84 HG00099.hp1
HG00140.hp1
HG00280.hp1
others(81): Show 
HG00099.hp1
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00673.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02074.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02300.hp1
HG02615.hp2
HG02647.hp1
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp2
HG03017.hp1
HG03492.hp1
HG03688.hp1
HG03710.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.487-6927A>G
c.487-6927A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68220899
chrX:68220968 A
A
 G
G
 1 a0001c0001t0013g0042
a0001c0001t0013g0042
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.487-6996T>C
c.487-6996T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68220968
chrX:68221007 C
C
 T
T
 1 a0001c0001t0003g0122
a0001c0001t0003g0122
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.487-7035G>A
c.487-7035G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68221007
chrX:68221025 A
A
 G
G
 2 a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0125
a0001c0001t0002g0127
 2 HG01255.hp1
HG03540.hp1
HG01255.hp1
HG03540.hp1
 intron_variant MODIFIER c.487-7053T>C
c.487-7053T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68221025
chrX:68221055 C
C
 A
A
 15 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(12): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0008g0112
a0001c0001t0030g0155
 15 HG01891.hp2
HG02486.hp1
HG02572.hp1
others(12): Show 
HG01891.hp2
HG02486.hp1
HG02572.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.487-7083G>T
c.487-7083G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68221055
chrX:68221214 C
C
 T
T
 1 a0001c0001t0003g0151
a0001c0001t0003g0151
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.487-7242G>A
c.487-7242G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68221214
chrX:68221240 C
C
 T
T
 2 a0001c0001t0002g0124
a0001c0001t0002g0144
a0001c0001t0002g0124
a0001c0001t0002g0144
 2 HG02132.hp1
NA18612.hp1
HG02132.hp1
NA18612.hp1
 intron_variant MODIFIER c.487-7268G>A
c.487-7268G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68221240
chrX:68221390 T
T
 G
G
 148 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(145): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0032
a0001c0001t0008g0112
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 148 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(145): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.487-7418A>C
c.487-7418A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68221390
chrX:68221393 C
C
 A
A
 148 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(145): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0032
a0001c0001t0008g0112
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 148 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(145): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.487-7421G>T
c.487-7421G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68221393
chrX:68221482 G
G
 A
A
 31 a0001c0001t0001g0038
a0001c0001t0001g0044
a0001c0001t0001g0071
others(28): Show 
a0001c0001t0001g0038
a0001c0001t0001g0044
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0007g0022
a0001c0001t0016g0119
a0001c0001t0020g0099
a0001c0001t0022g0103
 31 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(28): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG02071.hp1
HG02109.hp2
HG02132.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03942.hp1
NA18522.hp1
NA18612.hp1
NA18966.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.487-7510C>T
c.487-7510C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68221482
chrX:68221494 A
A
 T
T
 7 a0001c0001t0004g0004
a0001c0001t0004g0026
a0001c0001t0004g0030
others(4): Show 
a0001c0001t0004g0004
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0021g0150
 7 HG01081.hp2
HG01167.hp1
HG01169.hp1
others(4): Show 
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG02055.hp1
HG02109.hp1
HG03471.hp1
NA18906.hp1
 intron_variant MODIFIER c.487-7522T>A
c.487-7522T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68221494
chrX:68221509 C
C
 T
T
 1 a0001c0001t0001g0009
a0001c0001t0001g0009
 1 NA18995.hp1
NA18995.hp1
 intron_variant MODIFIER c.487-7537G>A
c.487-7537G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68221509
chrX:68221531 C
C
 A
A
 1 a0001c0001t0001g0051
a0001c0001t0001g0051
 1 HG00621.hp1
HG00621.hp1
 intron_variant MODIFIER c.487-7559G>T
c.487-7559G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68221531
chrX:68221582 G
G
 T
T
 122 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(119): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0141
a0001c0001t0001g0145
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0100
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0004
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 122 HG00099.hp1
HG00140.hp1
HG00280.hp1
others(119): Show 
HG00099.hp1
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00673.hp1
HG00735.hp1
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02572.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03471.hp1
HG03492.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.487-7610C>A
c.487-7610C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68221582
chrX:68221604 G
G
 C
C
 1 a0001c0001t0001g0147
a0001c0001t0001g0147
 1 HG01934.hp1
HG01934.hp1
 intron_variant MODIFIER c.487-7632C>G
c.487-7632C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68221604
chrX:68221620 T
T
 C
C
 1 a0001c0001t0001g0043
a0001c0001t0001g0043
 1 NA18747.hp1
NA18747.hp1
 intron_variant MODIFIER c.487-7648A>G
c.487-7648A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68221620
chrX:68221677 G
G
 GA
GA
 141 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(138): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0008g0112
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 141 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(138): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02300.hp1
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.487-7706dupT
c.487-7706dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68221677
chrX:68221705 TG
TG
 T
T
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.487-7734delC
c.487-7734delC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68221705
chrX:68221764 T
T
 TA
TA
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.487-7793dupT
c.487-7793dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68221764
chrX:68221826 T
T
 C
C
 2 a0001c0001t0003g0076
a0001c0001t0003g0100
a0001c0001t0003g0076
a0001c0001t0003g0100
 2 HG01106.hp1
HG01192.hp1
HG01106.hp1
HG01192.hp1
 intron_variant MODIFIER c.487-7854A>G
c.487-7854A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68221826
chrX:68221842 T
T
 C
C
 132 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(129): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0022
a0001c0001t0008g0112
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 132 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(129): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02300.hp1
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.487-7870A>G
c.487-7870A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68221842
chrX:68221853 A
A
 AG
AG
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.487-7882dupC
c.487-7882dupC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68221853
chrX:68221907 C
C
 CA
CA
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.487-7936dupT
c.487-7936dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68221907
chrX:68222015 T
T
 C
C
 15 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(12): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0008g0112
a0001c0001t0030g0155
 15 HG01891.hp2
HG02486.hp1
HG02572.hp1
others(12): Show 
HG01891.hp2
HG02486.hp1
HG02572.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.487-8043A>G
c.487-8043A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68222015
chrX:68222037 A
A
 AG
AG
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.487-8066dupC
c.487-8066dupC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68222037
chrX:68222169 C
C
 A
A
 1 a0001c0001t0003g0113
a0001c0001t0003g0113
 1 HG02723.hp2
HG02723.hp2
 intron_variant MODIFIER c.487-8197G>T
c.487-8197G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68222169
chrX:68222172 G
G
 GA
GA
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.487-8201dupT
c.487-8201dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68222172
chrX:68222184 G
G
 A
A
 15 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(12): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0008g0112
a0001c0001t0030g0155
 15 HG01891.hp2
HG02486.hp1
HG02572.hp1
others(12): Show 
HG01891.hp2
HG02486.hp1
HG02572.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.487-8212C>T
c.487-8212C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68222184
chrX:68222332 G
G
 GGA
GGA
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.487-8361_487-8360i
others(4): Show 
c.487-8361_487-8360insTC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68222332
chrX:68222333 A
A
 C
C
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.487-8361T>G
c.487-8361T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68222333
chrX:68222341 CT
CT
 C
C
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.487-8370delA
c.487-8370delA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68222341
chrX:68222373 A
A
 G
G
 31 a0001c0001t0001g0038
a0001c0001t0001g0044
a0001c0001t0001g0071
others(28): Show 
a0001c0001t0001g0038
a0001c0001t0001g0044
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0007g0022
a0001c0001t0016g0119
a0001c0001t0020g0099
a0001c0001t0022g0103
 31 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(28): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG02071.hp1
HG02109.hp2
HG02132.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03942.hp1
NA18522.hp1
NA18612.hp1
NA18966.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.487-8401T>C
c.487-8401T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68222373
chrX:68222375 T
T
 TC
TC
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.487-8404dupG
c.487-8404dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68222375
chrX:68222441 A
A
 AG
AG
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.487-8470dupC
c.487-8470dupC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68222441
chrX:68222492 C
C
 T
T
 3 a0001c0001t0001g0045
a0001c0001t0001g0068
a0001c0001t0001g0073
a0001c0001t0001g0045
a0001c0001t0001g0068
a0001c0001t0001g0073
 3 NA19066.hp1
NA19068.hp1
NA19085.hp1
NA19066.hp1
NA19068.hp1
NA19085.hp1
 intron_variant MODIFIER c.487-8520G>A
c.487-8520G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68222492
chrX:68222576 A
A
 T
T
 3 a0001c0001t0003g0151
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0003g0151
a0001c0001t0004g0094
a0001c0001t0004g0095
 3 HG03209.hp1
HG03516.hp1
NA18522.hp1
HG03209.hp1
HG03516.hp1
NA18522.hp1
 intron_variant MODIFIER c.487-8604T>A
c.487-8604T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68222576
chrX:68222589 G
G
 C
C
 130 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(127): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0022
a0001c0001t0008g0112
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 130 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(127): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02300.hp1
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.487-8617C>G
c.487-8617C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68222589
chrX:68222600 T
T
 C
C
 1 a0001c0001t0001g0038
a0001c0001t0001g0038
 1 HG02602.hp1
HG02602.hp1
 intron_variant MODIFIER c.487-8628A>G
c.487-8628A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68222600
chrX:68222625 G
G
 GT
GT
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.487-8654dupA
c.487-8654dupA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68222625
chrX:68222627 A
A
 G
G
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.487-8655T>C
c.487-8655T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68222627
chrX:68222650 T
T
 C
C
 2 a0001c0001t0005g0152
a0001c0001t0019g0003
a0001c0001t0005g0152
a0001c0001t0019g0003
 2 HG02630.hp2
HG02809.hp2
HG02630.hp2
HG02809.hp2
 intron_variant MODIFIER c.487-8678A>G
c.487-8678A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68222650
chrX:68222687 C
C
 T
T
 30 a0001c0001t0001g0038
a0001c0001t0001g0044
a0001c0001t0001g0071
others(27): Show 
a0001c0001t0001g0038
a0001c0001t0001g0044
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0007g0022
a0001c0001t0016g0119
a0001c0001t0022g0103
 30 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(27): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG01081.hp1
HG02071.hp1
HG02109.hp2
HG02132.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03942.hp1
NA18522.hp1
NA18612.hp1
NA18966.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.487-8715G>A
c.487-8715G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68222687
chrX:68222750 G
G
 A
A
 30 a0001c0001t0001g0038
a0001c0001t0001g0044
a0001c0001t0001g0071
others(27): Show 
a0001c0001t0001g0038
a0001c0001t0001g0044
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0007g0022
a0001c0001t0016g0119
a0001c0001t0022g0103
 30 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(27): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG01081.hp1
HG02071.hp1
HG02109.hp2
HG02132.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03942.hp1
NA18522.hp1
NA18612.hp1
NA18966.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.487-8778C>T
c.487-8778C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68222750
chrX:68222783 T
T
 TG
TG
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.487-8812dupC
c.487-8812dupC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68222783
chrX:68222790 A
A
 AG
AG
 2 a0001c0001t0001g0062
a0001c0001t0002g0123
a0001c0001t0001g0062
a0001c0001t0002g0123
 2 HG02027.hp1
NA19009.hp1
HG02027.hp1
NA19009.hp1
 intron_variant MODIFIER c.487-8819dupC
c.487-8819dupC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68222790
chrX:68222798 G
G
 C
C
 2 a0001c0001t0001g0045
a0001c0001t0001g0078
a0001c0001t0001g0045
a0001c0001t0001g0078
 2 NA19085.hp1
NA19088.hp1
NA19085.hp1
NA19088.hp1
 intron_variant MODIFIER c.487-8826C>G
c.487-8826C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68222798
chrX:68222852 G
G
 GCA
GCA
 154 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(151): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 154 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(151): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.487-8881_487-8880i
others(4): Show 
c.487-8881_487-8880insTG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68222852
chrX:68222856 GC
GC
 G
G
 154 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(151): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 154 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(151): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.487-8885delG
c.487-8885delG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68222856
chrX:68222887 C
C
 G
G
 82 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(79): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0141
a0001c0001t0001g0145
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0123
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0100
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 82 HG00099.hp1
HG00140.hp1
HG00280.hp1
others(79): Show 
HG00099.hp1
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00673.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02074.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02300.hp1
HG02615.hp2
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG03017.hp1
HG03492.hp1
HG03688.hp1
HG03710.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.487-8915G>C
c.487-8915G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68222887
chrX:68222978 T
T
 TA
TA
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.487-9007dupT
c.487-9007dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68222978
chrX:68223048 T
T
 TG
TG
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.487-9077dupC
c.487-9077dupC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68223048
chrX:68223058 G
G
 C
C
 2 a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0125
a0001c0001t0002g0127
 2 HG01255.hp1
HG03540.hp1
HG01255.hp1
HG03540.hp1
 intron_variant MODIFIER c.487-9086C>G
c.487-9086C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68223058
chrX:68223083 TG
TG
 T
T
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.487-9112delC
c.487-9112delC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68223083
chrX:68223161 A
A
 C
C
 1 a0001c0001t0001g0093
a0001c0001t0001g0093
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.487-9189T>G
c.487-9189T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68223161
chrX:68223186 G
G
 T
T
 11 a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0134
others(8): Show 
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0134
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0109
a0001c0001t0003g0139
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
 11 HG00099.hp2
HG02109.hp2
HG02257.hp2
others(8): Show 
HG00099.hp2
HG02109.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02559.hp2
HG02615.hp1
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02976.hp1
 intron_variant MODIFIER c.487-9214C>A
c.487-9214C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68223186
chrX:68223284 A
A
 G
G
 1 a0001c0001t0003g0091
a0001c0001t0003g0091
 1 HG00099.hp2
HG00099.hp2
 intron_variant MODIFIER c.487-9312T>C
c.487-9312T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68223284
chrX:68223541 C
C
 T
T
 2 a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0125
a0001c0001t0002g0127
 2 HG01255.hp1
HG03540.hp1
HG01255.hp1
HG03540.hp1
 intron_variant MODIFIER c.487-9569G>A
c.487-9569G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68223541
chrX:68223606 C
C
 T
T
 1 a0001c0001t0001g0039
a0001c0001t0001g0039
 1 HG02698.hp1
HG02698.hp1
 intron_variant MODIFIER c.487-9634G>A
c.487-9634G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68223606
chrX:68223826 A
A
 AC
AC
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.487-9855dupG
c.487-9855dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68223826
chrX:68223911 A
A
 AT
AT
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.487-9940dupA
c.487-9940dupA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68223911
chrX:68224091 T
T
 C
C
 15 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(12): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0008g0112
a0001c0001t0030g0155
 15 HG01891.hp2
HG02486.hp1
HG02572.hp1
others(12): Show 
HG01891.hp2
HG02486.hp1
HG02572.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.487-10119A>G
c.487-10119A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68224091
chrX:68224110 T
T
 TG
TG
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.487-10139dupC
c.487-10139dupC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68224110
chrX:68224178 C
C
 T
T
 1 a0001c0001t0001g0082
a0001c0001t0001g0082
 1 HG03710.hp1
HG03710.hp1
 intron_variant MODIFIER c.487-10206G>A
c.487-10206G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68224178
chrX:68224249 A
A
 AG
AG
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+10237_486+1023
others(5): Show 
c.486+10237_486+10238insC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68224249
chrX:68224263 C
C
 A
A
 15 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(12): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0008g0112
a0001c0001t0030g0155
 15 HG01891.hp2
HG02486.hp1
HG02572.hp1
others(12): Show 
HG01891.hp2
HG02486.hp1
HG02572.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.486+10224G>T
c.486+10224G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68224263
chrX:68224419 A
A
 AG
AG
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+10067dupC
c.486+10067dupC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68224419
chrX:68224463 G
G
 GC
GC
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+10023dupG
c.486+10023dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68224463
chrX:68224509 A
A
 C
C
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+9978T>G
c.486+9978T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68224509
chrX:68224576 C
C
 CA
CA
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+9910dupT
c.486+9910dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68224576
chrX:68224597 A
A
 T
T
 1 a0001c0001t0013g0042
a0001c0001t0013g0042
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.486+9890T>A
c.486+9890T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68224597
chrX:68224788 G
G
 GT
GT
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+9698dupA
c.486+9698dupA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68224788
chrX:68224821 T
T
 TG
TG
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+9665dupC
c.486+9665dupC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68224821
chrX:68224868 C
C
 CG
CG
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+9618dupC
c.486+9618dupC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68224868
chrX:68225012 C
C
 G
G
 1 a0001c0001t0001g0049
a0001c0001t0001g0049
 1 NA18945.hp1
NA18945.hp1
 intron_variant MODIFIER c.486+9475G>C
c.486+9475G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68225012
chrX:68225014 C
C
 CT
CT
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+9472dupA
c.486+9472dupA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68225014
chrX:68225037 T
T
 TC
TC
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+9449dupG
c.486+9449dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68225037
chrX:68225043 G
G
 A
A
 2 a0001c0001t0002g0133
a0001c0001t0003g0151
a0001c0001t0002g0133
a0001c0001t0003g0151
 2 HG01891.hp1
NA18522.hp1
HG01891.hp1
NA18522.hp1
 intron_variant MODIFIER c.486+9444C>T
c.486+9444C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68225043
chrX:68225075 T
T
 C
C
 2 a0002c0002t0001g0002
a0002c0002t0003g0001
a0002c0002t0001g0002
a0002c0002t0003g0001
 2 HG01358.hp1
homoSapiens_chm13v2.hp1
HG01358.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.486+9412A>G
c.486+9412A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68225075
chrX:68225110 A
A
 AG
AG
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+9376dupC
c.486+9376dupC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68225110
chrX:68225145 G
G
 A
A
 2 a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0105
a0001c0001t0006g0106
 2 HG02647.hp1
HG02886.hp2
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.486+9342C>T
c.486+9342C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68225145
chrX:68225230 G
G
 GA
GA
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+9256dupT
c.486+9256dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68225230
chrX:68225238 T
T
 TG
TG
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+9248dupC
c.486+9248dupC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68225238
chrX:68225302 A
A
 AT
AT
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+9184dupA
c.486+9184dupA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68225302
chrX:68225362 T
T
 C
C
 3 a0001c0001t0004g0026
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0004g0026
a0001c0001t0006g0120
a0001c0001t0006g0121
 3 HG01167.hp1
HG01169.hp1
NA18906.hp1
HG01167.hp1
HG01169.hp1
NA18906.hp1
 intron_variant MODIFIER c.486+9125A>G
c.486+9125A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68225362
chrX:68225374 T
T
 TG
TG
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+9112dupC
c.486+9112dupC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68225374
chrX:68225433 T
T
 TC
TC
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+9053dupG
c.486+9053dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68225433
chrX:68225439 A
A
 AC
AC
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+9047dupG
c.486+9047dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68225439
chrX:68225506 G
G
 GC
GC
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+8980dupG
c.486+8980dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68225506
chrX:68225534 C
C
 CG
CG
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+8952dupC
c.486+8952dupC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68225534
chrX:68225574 G
G
 GT
GT
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+8912dupA
c.486+8912dupA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68225574
chrX:68225597 A
A
 AC
AC
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+8889dupG
c.486+8889dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68225597
chrX:68225675 G
G
 GA
GA
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+8811dupT
c.486+8811dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68225675
chrX:68225697 C
C
 CA
CA
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+8789dupT
c.486+8789dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68225697
chrX:68225706 C
C
 CA
CA
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+8780dupT
c.486+8780dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68225706
chrX:68225722 C
C
 T
T
 1 a0001c0001t0003g0113
a0001c0001t0003g0113
 1 HG02723.hp2
HG02723.hp2
 intron_variant MODIFIER c.486+8765G>A
c.486+8765G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68225722
chrX:68225762 A
A
 AG
AG
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+8724dupC
c.486+8724dupC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68225762
chrX:68225997 A
A
 AT
AT
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+8489dupA
c.486+8489dupA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68225997
chrX:68226067 G
G
 GA
GA
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+8419dupT
c.486+8419dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68226067
chrX:68226106 G
G
 A
A
 4 a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
others(1): Show 
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0003c0004t0014g0102
 4 HG02280.hp2
HG02451.hp2
HG02886.hp1
others(1): Show 
HG02280.hp2
HG02451.hp2
HG02886.hp1
HG02922.hp2
 intron_variant MODIFIER c.486+8381C>T
c.486+8381C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68226106
chrX:68226231 G
G
 GA
GA
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+8255dupT
c.486+8255dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68226231
chrX:68226329 T
T
 C
C
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+8158A>G
c.486+8158A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68226329
chrX:68226330 C
C
 T
T
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+8157G>A
c.486+8157G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68226330
chrX:68226341 C
C
 CA
CA
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+8145dupT
c.486+8145dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68226341
chrX:68226370 A
A
 AC
AC
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+8116_486+8117i
others(3): Show 
c.486+8116_486+8117insG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68226370
chrX:68226435 C
C
 T
T
 1 a0001c0001t0013g0042
a0001c0001t0013g0042
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.486+8052G>A
c.486+8052G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68226435
chrX:68226506 A
A
 AG
AG
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+7980dupC
c.486+7980dupC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68226506
chrX:68226579 C
C
 CT
CT
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+7907dupA
c.486+7907dupA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68226579
chrX:68226625 A
A
 C
C
 30 a0001c0001t0001g0038
a0001c0001t0001g0044
a0001c0001t0001g0071
others(27): Show 
a0001c0001t0001g0038
a0001c0001t0001g0044
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0007g0022
a0001c0001t0016g0119
a0001c0001t0022g0103
 30 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(27): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG01081.hp1
HG02071.hp1
HG02109.hp2
HG02132.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03942.hp1
NA18522.hp1
NA18612.hp1
NA18966.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.486+7862T>G
c.486+7862T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68226625
chrX:68226645 AG
AG
 A
A
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+7841delC
c.486+7841delC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68226645
chrX:68226649 G
G
 A
A
 31 a0001c0001t0001g0038
a0001c0001t0001g0044
a0001c0001t0001g0071
others(28): Show 
a0001c0001t0001g0038
a0001c0001t0001g0044
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0007g0022
a0001c0001t0016g0119
a0001c0001t0020g0099
a0001c0001t0022g0103
 31 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(28): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG02071.hp1
HG02109.hp2
HG02132.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03942.hp1
NA18522.hp1
NA18612.hp1
NA18966.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.486+7838C>T
c.486+7838C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68226649
chrX:68226701 G
G
 A
A
 1 a0001c0001t0003g0063
a0001c0001t0003g0063
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.486+7786C>T
c.486+7786C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68226701
chrX:68226747 G
G
 GA
GA
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+7739dupT
c.486+7739dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68226747
chrX:68226773 G
G
 A
A
 140 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(137): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0008g0112
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 140 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(137): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02300.hp1
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.486+7714C>T
c.486+7714C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68226773
chrX:68226819 C
C
 T
T
 1 a0001c0001t0002g0133
a0001c0001t0002g0133
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.486+7668G>A
c.486+7668G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68226819
chrX:68226877 A
A
 AC
AC
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+7609dupG
c.486+7609dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68226877
chrX:68226922 A
A
 AG
AG
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+7564dupC
c.486+7564dupC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68226922
chrX:68226981 G
G
 GA
GA
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+7505dupT
c.486+7505dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68226981
chrX:68227035 AG
AG
 A
A
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+7451delC
c.486+7451delC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68227035
chrX:68227079 A
A
 T
T
 6 a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
others(3): Show 
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0021g0150
 6 HG01081.hp2
HG01167.hp1
HG01169.hp1
others(3): Show 
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG02055.hp1
HG03471.hp1
NA18906.hp1
 intron_variant MODIFIER c.486+7408T>A
c.486+7408T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68227079
chrX:68227126 A
A
 AT
AT
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+7360dupA
c.486+7360dupA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68227126
chrX:68227135 C
C
 CA
CA
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+7351dupT
c.486+7351dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68227135
chrX:68227235 A
A
 C
C
 2 a0002c0002t0001g0002
a0002c0002t0003g0001
a0002c0002t0001g0002
a0002c0002t0003g0001
 2 HG01358.hp1
homoSapiens_chm13v2.hp1
HG01358.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.486+7252T>G
c.486+7252T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68227235
chrX:68227295 C
C
 CA
CA
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+7191dupT
c.486+7191dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68227295
chrX:68227329 T
T
 TC
TC
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+7157dupG
c.486+7157dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68227329
chrX:68227432 A
A
 AC
AC
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+7054dupG
c.486+7054dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68227432
chrX:68227441 C
C
 T
T
 1 a0001c0001t0006g0013
a0001c0001t0006g0013
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.486+7046G>A
c.486+7046G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68227441
chrX:68227462 C
C
 T
T
 1 a0001c0001t0002g0133
a0001c0001t0002g0133
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.486+7025G>A
c.486+7025G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68227462
chrX:68227482 T
T
 TA
TA
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+7004dupT
c.486+7004dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68227482
chrX:68227517 C
C
 T
T
 31 a0001c0001t0001g0038
a0001c0001t0001g0044
a0001c0001t0001g0071
others(28): Show 
a0001c0001t0001g0038
a0001c0001t0001g0044
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0007g0022
a0001c0001t0016g0119
a0001c0001t0020g0099
a0001c0001t0022g0103
 31 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(28): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG02071.hp1
HG02109.hp2
HG02132.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03942.hp1
NA18522.hp1
NA18612.hp1
NA18966.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.486+6970G>A
c.486+6970G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68227517
chrX:68227545 T
T
 TA
TA
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+6941dupT
c.486+6941dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68227545
chrX:68227611 A
A
 AAC
AAC
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+6875_486+6876i
others(4): Show 
c.486+6875_486+6876insGT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68227611
chrX:68227680 C
C
 CA
CA
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+6806dupT
c.486+6806dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68227680
chrX:68227709 G
G
 A
A
 1 a0001c0001t0007g0032
a0001c0001t0007g0032
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.486+6778C>T
c.486+6778C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68227709
chrX:68227767 G
G
 A
A
 22 a0001c0001t0002g0115
a0001c0001t0002g0125
a0001c0001t0002g0127
others(19): Show 
a0001c0001t0002g0115
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0133
a0001c0001t0004g0004
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0019g0003
a0001c0001t0021g0150
a0003c0004t0014g0102
 22 HG01081.hp2
HG01167.hp1
HG01169.hp1
others(19): Show 
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01243.hp1
HG01255.hp1
HG01891.hp1
HG02055.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02630.hp1
HG02630.hp2
HG02809.hp2
HG02886.hp1
HG02922.hp2
HG03130.hp1
HG03471.hp1
HG03540.hp1
NA18906.hp1
 intron_variant MODIFIER c.486+6720C>T
c.486+6720C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68227767
chrX:68227838 T
T
 TA
TA
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+6648dupT
c.486+6648dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68227838
chrX:68227888 G
G
 C
C
 1 a0001c0001t0006g0013
a0001c0001t0006g0013
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.486+6599C>G
c.486+6599C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68227888
chrX:68227934 C
C
 CA
CA
 2 a0001c0001t0001g0029
a0001c0001t0003g0113
a0001c0001t0001g0029
a0001c0001t0003g0113
 2 HG02723.hp2
NA18988.hp1
HG02723.hp2
NA18988.hp1
 intron_variant MODIFIER c.486+6552dupT
c.486+6552dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68227934
chrX:68227967 G
G
 T
T
 7 a0001c0001t0004g0004
a0001c0001t0004g0026
a0001c0001t0004g0030
others(4): Show 
a0001c0001t0004g0004
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0021g0150
 7 HG01081.hp2
HG01167.hp1
HG01169.hp1
others(4): Show 
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG02055.hp1
HG02109.hp1
HG03471.hp1
NA18906.hp1
 intron_variant MODIFIER c.486+6520C>A
c.486+6520C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68227967
chrX:68228044 C
C
 T
T
 22 a0001c0001t0002g0115
a0001c0001t0002g0125
a0001c0001t0002g0127
others(19): Show 
a0001c0001t0002g0115
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0133
a0001c0001t0004g0004
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0019g0003
a0001c0001t0021g0150
a0003c0004t0014g0102
 22 HG01081.hp2
HG01167.hp1
HG01169.hp1
others(19): Show 
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01243.hp1
HG01255.hp1
HG01891.hp1
HG02055.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02630.hp1
HG02630.hp2
HG02809.hp2
HG02886.hp1
HG02922.hp2
HG03130.hp1
HG03471.hp1
HG03540.hp1
NA18906.hp1
 intron_variant MODIFIER c.486+6443G>A
c.486+6443G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68228044
chrX:68228223 C
C
 A
A
 22 a0001c0001t0002g0115
a0001c0001t0002g0125
a0001c0001t0002g0127
others(19): Show 
a0001c0001t0002g0115
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0133
a0001c0001t0004g0004
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0019g0003
a0001c0001t0021g0150
a0003c0004t0014g0102
 22 HG01081.hp2
HG01167.hp1
HG01169.hp1
others(19): Show 
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01243.hp1
HG01255.hp1
HG01891.hp1
HG02055.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02630.hp1
HG02630.hp2
HG02809.hp2
HG02886.hp1
HG02922.hp2
HG03130.hp1
HG03471.hp1
HG03540.hp1
NA18906.hp1
 intron_variant MODIFIER c.486+6264G>T
c.486+6264G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68228223
chrX:68228264 T
T
 C
C
 3 a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0002g0123
a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0002g0123
 3 HG02027.hp1
HG02135.hp1
NA20805.hp1
HG02027.hp1
HG02135.hp1
NA20805.hp1
 intron_variant MODIFIER c.486+6223A>G
c.486+6223A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68228264
chrX:68228374 T
T
 C
C
 2 a0001c0001t0006g0013
a0001c0001t0007g0032
a0001c0001t0006g0013
a0001c0001t0007g0032
 2 HG02630.hp1
HG03130.hp1
HG02630.hp1
HG03130.hp1
 intron_variant MODIFIER c.486+6113A>G
c.486+6113A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68228374
chrX:68228409 G
G
 GA
GA
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+6077dupT
c.486+6077dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68228409
chrX:68228452 CA
CA
 C
C
 22 a0001c0001t0002g0115
a0001c0001t0002g0125
a0001c0001t0002g0127
others(19): Show 
a0001c0001t0002g0115
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0133
a0001c0001t0004g0004
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0019g0003
a0001c0001t0021g0150
a0003c0004t0014g0102
 22 HG01081.hp2
HG01167.hp1
HG01169.hp1
others(19): Show 
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01243.hp1
HG01255.hp1
HG01891.hp1
HG02055.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02630.hp1
HG02630.hp2
HG02809.hp2
HG02886.hp1
HG02922.hp2
HG03130.hp1
HG03471.hp1
HG03540.hp1
NA18906.hp1
 intron_variant MODIFIER c.486+6034delT
c.486+6034delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68228452
chrX:68228575 G
G
 C
C
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+5912C>G
c.486+5912C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68228575
chrX:68228599 C
C
 G
G
 2 a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0125
a0001c0001t0002g0127
 2 HG01255.hp1
HG03540.hp1
HG01255.hp1
HG03540.hp1
 intron_variant MODIFIER c.486+5888G>C
c.486+5888G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68228599
chrX:68228645 A
A
 G
G
 9 a0001c0001t0004g0004
a0001c0001t0004g0026
a0001c0001t0004g0030
others(6): Show 
a0001c0001t0004g0004
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0005g0152
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0019g0003
a0001c0001t0021g0150
 9 HG01081.hp2
HG01167.hp1
HG01169.hp1
others(6): Show 
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG02055.hp1
HG02109.hp1
HG02630.hp2
HG02809.hp2
HG03471.hp1
NA18906.hp1
 intron_variant MODIFIER c.486+5842T>C
c.486+5842T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68228645
chrX:68228698 A
A
 AC
AC
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+5788dupG
c.486+5788dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68228698
chrX:68228776 C
C
 T
T
 4 a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
others(1): Show 
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0003c0004t0014g0102
 4 HG02280.hp2
HG02451.hp2
HG02886.hp1
others(1): Show 
HG02280.hp2
HG02451.hp2
HG02886.hp1
HG02922.hp2
 intron_variant MODIFIER c.486+5711G>A
c.486+5711G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68228776
chrX:68228786 C
C
 CA
CA
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+5700dupT
c.486+5700dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68228786
chrX:68228797 C
C
 T
T
 2 a0001c0001t0002g0135
a0001c0001t0003g0111
a0001c0001t0002g0135
a0001c0001t0003g0111
 2 HG02976.hp2
NA18906.hp2
HG02976.hp2
NA18906.hp2
 intron_variant MODIFIER c.486+5690G>A
c.486+5690G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68228797
chrX:68228870 C
C
 T
T
 1 a0001c0001t0002g0021
a0001c0001t0002g0021
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.486+5617G>A
c.486+5617G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68228870
chrX:68229083 T
T
 C
C
 82 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(79): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0141
a0001c0001t0001g0145
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0123
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0100
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 82 HG00099.hp1
HG00140.hp1
HG00280.hp1
others(79): Show 
HG00099.hp1
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00673.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02074.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02300.hp1
HG02615.hp2
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG03017.hp1
HG03492.hp1
HG03688.hp1
HG03710.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.486+5404A>G
c.486+5404A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68229083
chrX:68229146 T
T
 TG
TG
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+5340dupC
c.486+5340dupC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68229146
chrX:68229151 T
T
 TC
TC
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+5335dupG
c.486+5335dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68229151
chrX:68229226 A
A
 AG
AG
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+5260dupC
c.486+5260dupC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68229226
chrX:68229402 G
G
 GA
GA
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+5084dupT
c.486+5084dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68229402
chrX:68229475 G
G
 A
A
 2 a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0125
a0001c0001t0002g0127
 2 HG01255.hp1
HG03540.hp1
HG01255.hp1
HG03540.hp1
 intron_variant MODIFIER c.486+5012C>T
c.486+5012C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68229475
chrX:68229529 T
T
 TA
TA
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+4957dupT
c.486+4957dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68229529
chrX:68229555 C
C
 CA
CA
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+4931dupT
c.486+4931dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68229555
chrX:68229564 T
T
 G
G
 148 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(145): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0032
a0001c0001t0008g0112
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 148 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(145): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.486+4923A>C
c.486+4923A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68229564
chrX:68229566 T
T
 G
G
 148 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(145): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0032
a0001c0001t0008g0112
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 148 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(145): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.486+4921A>C
c.486+4921A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68229566
chrX:68229816 G
G
 GA
GA
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+4670dupT
c.486+4670dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68229816
chrX:68229847 G
G
 GC
GC
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+4639dupG
c.486+4639dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68229847
chrX:68229869 T
T
 C
C
 1 a0001c0001t0001g0051
a0001c0001t0001g0051
 1 HG00621.hp1
HG00621.hp1
 intron_variant MODIFIER c.486+4618A>G
c.486+4618A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68229869
chrX:68229888 G
G
 A
A
 1 a0001c0001t0002g0133
a0001c0001t0002g0133
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.486+4599C>T
c.486+4599C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68229888
chrX:68229898 C
C
 A
A
 31 a0001c0001t0001g0038
a0001c0001t0001g0044
a0001c0001t0001g0071
others(28): Show 
a0001c0001t0001g0038
a0001c0001t0001g0044
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0007g0022
a0001c0001t0016g0119
a0001c0001t0020g0099
a0001c0001t0022g0103
 31 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(28): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG02071.hp1
HG02109.hp2
HG02132.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03942.hp1
NA18522.hp1
NA18612.hp1
NA18966.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.486+4589G>T
c.486+4589G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68229898
chrX:68229929 A
A
 C
C
 3 a0001c0001t0001g0015
a0001c0001t0001g0154
a0001c0001t0003g0101
a0001c0001t0001g0015
a0001c0001t0001g0154
a0001c0001t0003g0101
 3 HG02723.hp1
NA19004.hp1
NA19005.hp1
HG02723.hp1
NA19004.hp1
NA19005.hp1
 intron_variant MODIFIER c.486+4558T>G
c.486+4558T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68229929
chrX:68230016 T
T
 TG
TG
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+4470dupC
c.486+4470dupC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68230016
chrX:68230022 A
A
 AG
AG
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+4464dupC
c.486+4464dupC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68230022
chrX:68230081 A
A
 AC
AC
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+4405dupG
c.486+4405dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68230081
chrX:68230088 C
C
 CA
CA
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+4398dupT
c.486+4398dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68230088
chrX:68230123 C
C
 CA
CA
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+4363dupT
c.486+4363dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68230123
chrX:68230193 G
G
 GC
GC
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+4293dupG
c.486+4293dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68230193
chrX:68230362 C
C
 T
T
 8 a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
others(5): Show 
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0005g0152
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0019g0003
a0001c0001t0021g0150
 8 HG01081.hp2
HG01167.hp1
HG01169.hp1
others(5): Show 
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG02055.hp1
HG02630.hp2
HG02809.hp2
HG03471.hp1
NA18906.hp1
 intron_variant MODIFIER c.486+4125G>A
c.486+4125G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68230362
chrX:68230404 C
C
 A
A
 2 a0001c0001t0001g0068
a0001c0001t0001g0073
a0001c0001t0001g0068
a0001c0001t0001g0073
 2 NA19066.hp1
NA19068.hp1
NA19066.hp1
NA19068.hp1
 intron_variant MODIFIER c.486+4083G>T
c.486+4083G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68230404
chrX:68230501 T
T
 C
C
 130 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(127): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0022
a0001c0001t0008g0112
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 130 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(127): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02300.hp1
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.486+3986A>G
c.486+3986A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68230501
chrX:68230544 GA
GA
 G
G
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+3942delT
c.486+3942delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68230544
chrX:68230613 A
A
 AG
AG
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+3873dupC
c.486+3873dupC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68230613
chrX:68230620 T
T
 TG
TG
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+3866dupC
c.486+3866dupC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68230620
chrX:68230635 A
A
 AAC
AAC
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+3851_486+3852i
others(4): Show 
c.486+3851_486+3852insGT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68230635
chrX:68230658 G
G
 A
A
 31 a0001c0001t0001g0038
a0001c0001t0001g0044
a0001c0001t0001g0071
others(28): Show 
a0001c0001t0001g0038
a0001c0001t0001g0044
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0007g0022
a0001c0001t0016g0119
a0001c0001t0020g0099
a0001c0001t0022g0103
 31 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(28): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG02071.hp1
HG02109.hp2
HG02132.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03942.hp1
NA18522.hp1
NA18612.hp1
NA18966.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.486+3829C>T
c.486+3829C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68230658
chrX:68230732 G
G
 C
C
 1 a0001c0001t0001g0077
a0001c0001t0001g0077
 1 HG02071.hp1
HG02071.hp1
 intron_variant MODIFIER c.486+3755C>G
c.486+3755C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68230732
chrX:68230769 T
T
 TG
TG
 1 a0001c0001t0003g0065
a0001c0001t0003g0065
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.486+3717dupC
c.486+3717dupC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68230769
chrX:68230776 A
A
 AG
AG
 2 a0001c0001t0001g0044
a0001c0001t0001g0053
a0001c0001t0001g0044
a0001c0001t0001g0053
 2 HG03942.hp1
NA18974.hp1
HG03942.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+3710dupC
c.486+3710dupC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68230776
chrX:68231021 A
A
 G
G
 82 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(79): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0141
a0001c0001t0001g0145
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0123
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0100
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 82 HG00099.hp1
HG00140.hp1
HG00280.hp1
others(79): Show 
HG00099.hp1
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00673.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02074.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02300.hp1
HG02615.hp2
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG03017.hp1
HG03492.hp1
HG03688.hp1
HG03710.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.486+3466T>C
c.486+3466T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68231021
chrX:68231031 T
T
 TA
TA
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+3455dupT
c.486+3455dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68231031
chrX:68231197 G
G
 GAA
GAA
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+3288_486+3289d
others(4): Show 
c.486+3288_486+3289dupTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68231197
chrX:68231271 T
T
 C
C
 1 a0001c0001t0026g0056
a0001c0001t0026g0056
 1 NA20905.hp1
NA20905.hp1
 intron_variant MODIFIER c.486+3216A>G
c.486+3216A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68231271
chrX:68231283 C
C
 CT
CT
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+3203dupA
c.486+3203dupA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68231283
chrX:68231308 T
T
 TG
TG
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+3178dupC
c.486+3178dupC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68231308
chrX:68231418 C
C
 G
G
 1 a0001c0001t0004g0026
a0001c0001t0004g0026
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.486+3069G>C
c.486+3069G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68231418
chrX:68231507 C
C
 T
T
 6 a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
others(3): Show 
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0021g0150
 6 HG01081.hp2
HG01167.hp1
HG01169.hp1
others(3): Show 
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG02055.hp1
HG03471.hp1
NA18906.hp1
 intron_variant MODIFIER c.486+2980G>A
c.486+2980G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68231507
chrX:68231542 C
C
 G
G
 130 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(127): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0022
a0001c0001t0008g0112
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 130 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(127): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02300.hp1
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.486+2945G>C
c.486+2945G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68231542
chrX:68231578 C
C
 T
T
 6 a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0004g0010
others(3): Show 
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0003c0004t0014g0102
 6 HG02280.hp2
HG02451.hp2
HG02886.hp1
others(3): Show 
HG02280.hp2
HG02451.hp2
HG02886.hp1
HG02922.hp2
HG02965.hp1
HG03139.hp1
 intron_variant MODIFIER c.486+2909G>A
c.486+2909G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68231578
chrX:68231671 T
T
 TG
TG
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+2815dupC
c.486+2815dupC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68231671
chrX:68231710 A
A
 AT
AT
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+2776dupA
c.486+2776dupA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68231710
chrX:68231914 G
G
 GC
GC
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+2572dupG
c.486+2572dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68231914
chrX:68231931 A
A
 AT
AT
 2 a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0105
a0001c0001t0006g0106
 2 HG02647.hp1
HG02886.hp2
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.486+2555_486+2556i
others(3): Show 
c.486+2555_486+2556insA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68231931
chrX:68232221 A
A
 AG
AG
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+2265dupC
c.486+2265dupC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68232221
chrX:68232330 A
A
 C
C
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+2157T>G
c.486+2157T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68232330
chrX:68232386 A
A
 C
C
 152 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(149): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 152 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(149): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.486+2101T>G
c.486+2101T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68232386
chrX:68232482 AG
AG
 A
A
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+2004delC
c.486+2004delC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68232482
chrX:68232531 G
G
 GT
GT
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+1955dupA
c.486+1955dupA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68232531
chrX:68232594 C
C
 CG
CG
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+1892dupC
c.486+1892dupC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68232594
chrX:68232790 C
C
 T
T
 33 a0001c0001t0001g0038
a0001c0001t0001g0044
a0001c0001t0001g0071
others(30): Show 
a0001c0001t0001g0038
a0001c0001t0001g0044
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0022
a0001c0001t0016g0119
a0001c0001t0020g0099
a0001c0001t0022g0103
 33 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(30): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG02071.hp1
HG02109.hp2
HG02132.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03942.hp1
NA18522.hp1
NA18612.hp1
NA18966.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.486+1697G>A
c.486+1697G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68232790
chrX:68232792 C
C
 T
T
 2 a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0105
a0001c0001t0006g0106
 2 HG02647.hp1
HG02886.hp2
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.486+1695G>A
c.486+1695G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68232792
chrX:68232814 G
G
 GA
GA
 1 a0001c0001t0020g0099
a0001c0001t0020g0099
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.486+1672dupT
c.486+1672dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68232814
chrX:68232928 G
G
 T
T
 1 a0001c0001t0008g0096
a0001c0001t0008g0096
 1 HG02257.hp1
HG02257.hp1
 intron_variant MODIFIER c.486+1559C>A
c.486+1559C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68232928
chrX:68232929 C
C
 CT
CT
 32 a0001c0001t0001g0038
a0001c0001t0001g0040
a0001c0001t0001g0044
others(29): Show 
a0001c0001t0001g0038
a0001c0001t0001g0040
a0001c0001t0001g0044
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0091
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0016g0119
a0001c0001t0022g0103
a0001c0001t0030g0155
 32 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(29): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG01081.hp1
HG02027.hp1
HG02071.hp1
HG02109.hp2
HG02132.hp1
HG02257.hp2
HG02258.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp1
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03942.hp1
NA18522.hp1
NA18612.hp1
NA18965.hp1
NA18966.hp1
NA19043.hp1
 intron_variant MODIFIER c.486+1557dupA
c.486+1557dupA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68232929
chrX:68232929 C
C
 CTT
CTT
 3 a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0007g0022
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0007g0022
 3 HG02280.hp1
HG02809.hp1
NA19030.hp2
HG02280.hp1
HG02809.hp1
NA19030.hp2
 intron_variant MODIFIER c.486+1556_486+1557d
others(4): Show 
c.486+1556_486+1557dupAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68232929
chrX:68232929 CT
CT
 C
C
 1 a0001c0001t0006g0120
a0001c0001t0006g0120
 1 HG01169.hp1
HG01169.hp1
 intron_variant MODIFIER c.486+1557delA
c.486+1557delA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68232929
chrX:68232950 C
C
 T
T
 4 a0001c0001t0001g0027
a0001c0001t0001g0041
a0001c0001t0001g0092
others(1): Show 
a0001c0001t0001g0027
a0001c0001t0001g0041
a0001c0001t0001g0092
a0001c0001t0024g0007
 4 NA18960.hp1
NA18994.hp1
NA19000.hp1
others(1): Show 
NA18960.hp1
NA18994.hp1
NA19000.hp1
NA19007.hp1
 intron_variant MODIFIER c.486+1537G>A
c.486+1537G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68232950
chrX:68233027 C
C
 CA
CA
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+1459dupT
c.486+1459dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68233027
chrX:68233048 T
T
 TC
TC
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+1438dupG
c.486+1438dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68233048
chrX:68233124 T
T
 C
C
 130 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(127): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0022
a0001c0001t0008g0112
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 130 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(127): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02300.hp1
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.486+1363A>G
c.486+1363A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68233124
chrX:68233236 G
G
 GC
GC
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+1250dupG
c.486+1250dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68233236
chrX:68233421 T
T
 TA
TA
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+1065dupT
c.486+1065dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68233421
chrX:68233715 T
T
 TG
TG
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+771dupC
c.486+771dupC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68233715
chrX:68233786 T
T
 TC
TC
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+700dupG
c.486+700dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68233786
chrX:68233862 T
T
 TA
TA
 1 a0001c0001t0001g0048
a0001c0001t0001g0048
 1 HG02738.hp1
HG02738.hp1
 intron_variant MODIFIER c.486+624dupT
c.486+624dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68233862
chrX:68234062 C
C
 CA
CA
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+424dupT
c.486+424dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68234062
chrX:68234091 C
C
 CA
CA
 90 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(87): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0141
a0001c0001t0001g0145
a0001c0001t0001g0147
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0014
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0035
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0003g0151
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0138
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0008g0112
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0020g0099
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0003g0001
 90 HG00099.hp1
HG00140.hp1
HG00609.hp1
others(87): Show 
HG00099.hp1
HG00140.hp1
HG00609.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00738.hp1
HG01074.hp1
HG01099.hp1
HG01106.hp1
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01515.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG02015.hp1
HG02056.hp1
HG02083.hp1
HG02129.hp1
HG02300.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp2
HG02647.hp1
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG04115.hp1
HG04228.hp1
NA18522.hp1
NA18747.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18977.hp1
NA18983.hp1
NA18986.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.486+395dupT
c.486+395dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68234091
chrX:68234091 C
C
 CAA
CAA
 33 a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0044
others(30): Show 
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0044
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0149
a0001c0001t0002g0006
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0063
a0001c0001t0003g0091
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0004g0005
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0007g0022
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0022g0103
a0002c0002t0001g0002
 33 HG00099.hp2
HG00280.hp1
HG00621.hp1
others(30): Show 
HG00099.hp2
HG00280.hp1
HG00621.hp1
HG00735.hp2
HG01081.hp1
HG01358.hp1
HG02027.hp1
HG02071.hp1
HG02074.hp1
HG02109.hp2
HG02132.hp1
HG02135.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG03490.hp1
HG03942.hp1
HG04199.hp1
NA18612.hp1
NA18966.hp1
NA18988.hp1
NA19030.hp2
NA19043.hp1
NA20805.hp1
 intron_variant MODIFIER c.486+394_486+395dup
others(2): Show 
c.486+394_486+395dupTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68234091
chrX:68234091 C
C
 CAAA
CAAA
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+393_486+395dup
others(3): Show 
c.486+393_486+395dupTTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68234091
chrX:68234091 CA
CA
 C
C
 5 a0001c0001t0002g0133
a0001c0001t0004g0010
a0001c0001t0004g0011
others(2): Show 
a0001c0001t0002g0133
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0003c0004t0014g0102
 5 HG01891.hp1
HG02280.hp2
HG02451.hp2
others(2): Show 
HG01891.hp1
HG02280.hp2
HG02451.hp2
HG02886.hp1
HG02922.hp2
 intron_variant MODIFIER c.486+395delT
c.486+395delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68234091
chrX:68234091 CAA
CAA
 C
C
 4 a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0006g0013
others(1): Show 
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0006g0013
a0001c0001t0007g0032
 4 HG01255.hp1
HG02630.hp1
HG03130.hp1
others(1): Show 
HG01255.hp1
HG02630.hp1
HG03130.hp1
HG03540.hp1
 intron_variant MODIFIER c.486+394_486+395del
others(2): Show 
c.486+394_486+395delTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68234091
chrX:68234132 GA
GA
 G
G
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+354delT
c.486+354delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68234132
chrX:68234195 G
G
 A
A
 1 a0001c0001t0020g0099
a0001c0001t0020g0099
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.486+292C>T
c.486+292C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68234195
chrX:68234221 A
A
 AG
AG
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+265dupC
c.486+265dupC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68234221
chrX:68234395 C
C
 CG
CG
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+91dupC
c.486+91dupC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68234395
chrX:68234421 C
C
 CA
CA
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+65dupT
c.486+65dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68234421
chrX:68234472 G
G
 GC
GC
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.486+14dupG
c.486+14dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 6/24 chrX 68234472
chrX:68234823 G
G
 GA
GA
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.385-236dupT
c.385-236dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68234823
chrX:68235028 A
A
 G
G
 82 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(79): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0141
a0001c0001t0001g0145
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0123
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0100
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 82 HG00099.hp1
HG00140.hp1
HG00280.hp1
others(79): Show 
HG00099.hp1
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00673.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02074.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02300.hp1
HG02615.hp2
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG03017.hp1
HG03492.hp1
HG03688.hp1
HG03710.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.385-440T>C
c.385-440T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68235028
chrX:68235053 T
T
 TG
TG
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.385-466dupC
c.385-466dupC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68235053
chrX:68235118 T
T
 C
C
 2 a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0125
a0001c0001t0002g0127
 2 HG01255.hp1
HG03540.hp1
HG01255.hp1
HG03540.hp1
 intron_variant MODIFIER c.385-530A>G
c.385-530A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68235118
chrX:68235129 GA
GA
 G
G
 1 a0001c0001t0001g0029
a0001c0001t0001g0029
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.385-542delT
c.385-542delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68235129
chrX:68235571 C
C
 CT
CT
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.385-984dupA
c.385-984dupA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68235571
chrX:68235662 A
A
 AC
AC
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.385-1075dupG
c.385-1075dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68235662
chrX:68235675 T
T
 C
C
 4 a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
others(1): Show 
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0003c0004t0014g0102
 4 HG02280.hp2
HG02451.hp2
HG02886.hp1
others(1): Show 
HG02280.hp2
HG02451.hp2
HG02886.hp1
HG02922.hp2
 intron_variant MODIFIER c.385-1087A>G
c.385-1087A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68235675
chrX:68235683 C
C
 CA
CA
 7 a0001c0001t0001g0015
a0001c0001t0001g0029
a0001c0001t0001g0075
others(4): Show 
a0001c0001t0001g0015
a0001c0001t0001g0029
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0002g0057
a0001c0001t0019g0003
a0001c0001t0029g0031
 7 HG02809.hp2
NA18962.hp1
NA18977.hp1
others(4): Show 
HG02809.hp2
NA18962.hp1
NA18977.hp1
NA18988.hp1
NA19004.hp1
NA19012.hp1
NA19088.hp1
 intron_variant MODIFIER c.385-1096dupT
c.385-1096dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68235683
chrX:68235683 CA
CA
 C
C
 4 a0001c0001t0001g0069
a0001c0001t0001g0141
a0001c0001t0002g0125
others(1): Show 
a0001c0001t0001g0069
a0001c0001t0001g0141
a0001c0001t0002g0125
a0001c0001t0002g0127
 4 HG00140.hp1
HG01074.hp1
HG01255.hp1
others(1): Show 
HG00140.hp1
HG01074.hp1
HG01255.hp1
HG03540.hp1
 intron_variant MODIFIER c.385-1096delT
c.385-1096delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68235683
chrX:68235716 G
G
 GCT
GCT
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.385-1129_385-1128i
others(4): Show 
c.385-1129_385-1128insAG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68235716
chrX:68235718 CT
CT
 C
C
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.385-1131delA
c.385-1131delA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68235718
chrX:68235729 A
A
 AG
AG
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.385-1142_385-1141i
others(3): Show 
c.385-1142_385-1141insC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68235729
chrX:68235754 A
A
 AG
AG
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.385-1167dupC
c.385-1167dupC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68235754
chrX:68235848 A
A
 AC
AC
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.385-1261dupG
c.385-1261dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68235848
chrX:68235861 C
C
 T
T
 6 a0001c0001t0001g0098
a0001c0001t0004g0030
a0001c0001t0004g0034
others(3): Show 
a0001c0001t0001g0098
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0011g0061
a0001c0001t0021g0150
a0001c0001t0028g0084
 6 HG01081.hp2
HG02055.hp1
HG03471.hp1
others(3): Show 
HG01081.hp2
HG02055.hp1
HG03471.hp1
NA18955.hp1
NA18982.hp1
NA19070.hp1
 intron_variant MODIFIER c.385-1273G>A
c.385-1273G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68235861
chrX:68235891 T
T
 C
C
 1 a0001c0001t0001g0088
a0001c0001t0001g0088
 1 HG02056.hp1
HG02056.hp1
 intron_variant MODIFIER c.385-1303A>G
c.385-1303A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68235891
chrX:68235902 A
A
 AT
AT
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.385-1315dupA
c.385-1315dupA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68235902
chrX:68235933 AG
AG
 A
A
 1 a0001c0001t0001g0029
a0001c0001t0001g0029
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.385-1346delC
c.385-1346delC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68235933
chrX:68235967 A
A
 AG
AG
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.385-1380dupC
c.385-1380dupC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68235967
chrX:68236223 A
A
 T
T
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.385-1635T>A
c.385-1635T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68236223
chrX:68236350 T
T
 C
C
 15 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(12): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0008g0112
a0001c0001t0030g0155
 15 HG01891.hp2
HG02486.hp1
HG02572.hp1
others(12): Show 
HG01891.hp2
HG02486.hp1
HG02572.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.385-1762A>G
c.385-1762A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68236350
chrX:68236545 T
T
 TC
TC
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.385-1958dupG
c.385-1958dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68236545
chrX:68236803 T
T
 TG
TG
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.385-2216_385-2215i
others(3): Show 
c.385-2216_385-2215insC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68236803
chrX:68236903 T
T
 TG
TG
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.385-2316dupC
c.385-2316dupC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68236903
chrX:68236957 T
T
 TC
TC
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.385-2370dupG
c.385-2370dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68236957
chrX:68237037 G
G
 GT
GT
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.385-2450dupA
c.385-2450dupA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68237037
chrX:68237048 C
C
 T
T
 8 a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
others(5): Show 
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0005g0152
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0019g0003
a0001c0001t0021g0150
 8 HG01081.hp2
HG01167.hp1
HG01169.hp1
others(5): Show 
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG02055.hp1
HG02630.hp2
HG02809.hp2
HG03471.hp1
NA18906.hp1
 intron_variant MODIFIER c.385-2460G>A
c.385-2460G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68237048
chrX:68237103 A
A
 AC
AC
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.385-2516dupG
c.385-2516dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68237103
chrX:68237640 CATT
CATT
 C
C
 1 a0001c0001t0004g0004
a0001c0001t0004g0004
 1 HG02109.hp1
HG02109.hp1
 intron_variant MODIFIER c.385-3055_385-3053d
others(5): Show 
c.385-3055_385-3053delAAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68237640
chrX:68238264 T
T
 C
C
 2 a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0105
a0001c0001t0006g0106
 2 HG02647.hp1
HG02886.hp2
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.385-3676A>G
c.385-3676A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68238264
chrX:68238408 C
C
 CT
CT
 1 a0001c0001t0002g0127
a0001c0001t0002g0127
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.385-3821dupA
c.385-3821dupA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68238408
chrX:68238409 T
T
 C
C
 15 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(12): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0008g0112
a0001c0001t0030g0155
 15 HG01891.hp2
HG02486.hp1
HG02572.hp1
others(12): Show 
HG01891.hp2
HG02486.hp1
HG02572.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.385-3821A>G
c.385-3821A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68238409
chrX:68238714 G
G
 T
T
 1 a0001c0001t0001g0069
a0001c0001t0001g0069
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.385-4126C>A
c.385-4126C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68238714
chrX:68238808 A
A
 AC
AC
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.385-4221dupG
c.385-4221dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68238808
chrX:68239190 G
G
 T
T
 32 a0001c0001t0001g0038
a0001c0001t0001g0044
a0001c0001t0001g0071
others(29): Show 
a0001c0001t0001g0038
a0001c0001t0001g0044
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0022
a0001c0001t0016g0119
a0001c0001t0020g0099
a0001c0001t0022g0103
 32 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(29): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG02071.hp1
HG02109.hp2
HG02132.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03942.hp1
NA18522.hp1
NA18612.hp1
NA18966.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.385-4602C>A
c.385-4602C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68239190
chrX:68239211 A
A
 ACTGCTGG
others(23): Show 
ACTGCTGGTTCTGCCGGTGTCCTGCTGGCAT
 129 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(126): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0022
a0001c0001t0008g0112
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 129 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(126): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02300.hp1
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.385-4624_385-4623i
others(32): Show 
c.385-4624_385-4623insATGCCAGCAGGACACCGGCAGAACCAGC
AG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68239211
chrX:68239214 GCTGGTGT
others(14): Show 
GCTGGTGTCTGCCGGTGTCCTC
 G
G
 1 a0001c0001t0002g0133
a0001c0001t0002g0133
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.385-4647_385-4627d
others(23): Show 
c.385-4647_385-4627delGAGGACACCGGCAGACACCAG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68239214
chrX:68239227 G
G
 A
A
 1 a0001c0001t0001g0015
a0001c0001t0001g0015
 1 NA19004.hp1
NA19004.hp1
 intron_variant MODIFIER c.385-4639C>T
c.385-4639C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68239227
chrX:68239298 C
C
 T
T
 15 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(12): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0008g0112
a0001c0001t0030g0155
 15 HG01891.hp2
HG02486.hp1
HG02572.hp1
others(12): Show 
HG01891.hp2
HG02486.hp1
HG02572.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.385-4710G>A
c.385-4710G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68239298
chrX:68239575 G
G
 A
A
 114 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(111): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0022
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 114 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(111): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02300.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02976.hp1
HG03017.hp1
HG03209.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.385-4987C>T
c.385-4987C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68239575
chrX:68239586 G
G
 A
A
 1 a0001c0001t0004g0034
a0001c0001t0004g0034
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.385-4998C>T
c.385-4998C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68239586
chrX:68239816 AT
AT
 A
A
 33 a0001c0001t0001g0038
a0001c0001t0001g0044
a0001c0001t0001g0071
others(30): Show 
a0001c0001t0001g0038
a0001c0001t0001g0044
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0022
a0001c0001t0016g0119
a0001c0001t0020g0099
a0001c0001t0022g0103
 33 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(30): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG02071.hp1
HG02109.hp2
HG02132.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03942.hp1
NA18522.hp1
NA18612.hp1
NA18944.hp1
NA18966.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.385-5229delA
c.385-5229delA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68239816
chrX:68239816 ATT
ATT
 A
A
 81 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(78): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0141
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0123
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0100
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 81 HG00099.hp1
HG00140.hp1
HG00280.hp1
others(78): Show 
HG00099.hp1
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00673.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02074.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02300.hp1
HG02615.hp2
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG03017.hp1
HG03492.hp1
HG03688.hp1
HG03710.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.385-5230_385-5229d
others(4): Show 
c.385-5230_385-5229delAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68239816
chrX:68240065 C
C
 T
T
 2 a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0125
a0001c0001t0002g0127
 2 HG01255.hp1
HG03540.hp1
HG01255.hp1
HG03540.hp1
 intron_variant MODIFIER c.385-5477G>A
c.385-5477G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68240065
chrX:68240451 C
C
 T
T
 1 a0001c0001t0001g0016
a0001c0001t0001g0016
 1 HG01256.hp1
HG01256.hp1
 intron_variant MODIFIER c.385-5863G>A
c.385-5863G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68240451
chrX:68240658 T
T
 C
C
 2 a0001c0001t0001g0147
a0001c0001t0003g0100
a0001c0001t0001g0147
a0001c0001t0003g0100
 2 HG01106.hp1
HG01934.hp1
HG01106.hp1
HG01934.hp1
 intron_variant MODIFIER c.385-6070A>G
c.385-6070A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68240658
chrX:68240681 T
T
 C
C
 3 a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0002g0123
a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0002g0123
 3 HG02027.hp1
HG02135.hp1
NA20805.hp1
HG02027.hp1
HG02135.hp1
NA20805.hp1
 intron_variant MODIFIER c.385-6093A>G
c.385-6093A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68240681
chrX:68240682 G
G
 A
A
 1 a0001c0001t0002g0123
a0001c0001t0002g0123
 1 HG02027.hp1
HG02027.hp1
 intron_variant MODIFIER c.385-6094C>T
c.385-6094C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68240682
chrX:68240899 C
C
 T
T
 13 a0001c0001t0002g0115
a0001c0001t0002g0133
a0001c0001t0003g0101
others(10): Show 
a0001c0001t0002g0115
a0001c0001t0002g0133
a0001c0001t0003g0101
a0001c0001t0004g0004
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0006g0013
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0009g0128
a0001c0001t0009g0129
a0003c0004t0014g0102
 13 HG01243.hp1
HG01891.hp1
HG02109.hp1
others(10): Show 
HG01243.hp1
HG01891.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02630.hp1
HG02723.hp1
HG02886.hp1
HG02922.hp2
HG03130.hp1
 intron_variant MODIFIER c.385-6311G>A
c.385-6311G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68240899
chrX:68240966 T
T
 A
A
 1 a0001c0001t0007g0032
a0001c0001t0007g0032
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.385-6378A>T
c.385-6378A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68240966
chrX:68241111 G
G
 A
A
 23 a0001c0001t0002g0115
a0001c0001t0002g0125
a0001c0001t0002g0127
others(20): Show 
a0001c0001t0002g0115
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0133
a0001c0001t0003g0101
a0001c0001t0004g0004
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0019g0003
a0001c0001t0021g0150
a0003c0004t0014g0102
 23 HG01081.hp2
HG01167.hp1
HG01169.hp1
others(20): Show 
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01243.hp1
HG01255.hp1
HG01891.hp1
HG02055.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02630.hp1
HG02630.hp2
HG02723.hp1
HG02809.hp2
HG02886.hp1
HG02922.hp2
HG03130.hp1
HG03471.hp1
HG03540.hp1
NA18906.hp1
 intron_variant MODIFIER c.385-6523C>T
c.385-6523C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68241111
chrX:68241228 T
T
 C
C
 1 a0001c0001t0002g0134
a0001c0001t0002g0134
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.385-6640A>G
c.385-6640A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68241228
chrX:68241249 C
C
 T
T
 1 a0001c0001t0001g0044
a0001c0001t0001g0044
 1 HG03942.hp1
HG03942.hp1
 intron_variant MODIFIER c.385-6661G>A
c.385-6661G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68241249
chrX:68241470 T
T
 G
G
 5 a0001c0001t0003g0101
a0001c0001t0004g0010
a0001c0001t0004g0011
others(2): Show 
a0001c0001t0003g0101
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0003c0004t0014g0102
 5 HG02280.hp2
HG02451.hp2
HG02723.hp1
others(2): Show 
HG02280.hp2
HG02451.hp2
HG02723.hp1
HG02886.hp1
HG02922.hp2
 intron_variant MODIFIER c.385-6882A>C
c.385-6882A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68241470
chrX:68241564 C
C
 T
T
 1 a0001c0001t0003g0091
a0001c0001t0003g0091
 1 HG00099.hp2
HG00099.hp2
 intron_variant MODIFIER c.385-6976G>A
c.385-6976G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68241564
chrX:68241676 T
T
 A
A
 82 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(79): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0141
a0001c0001t0001g0145
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0123
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0100
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 82 HG00099.hp1
HG00140.hp1
HG00280.hp1
others(79): Show 
HG00099.hp1
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00673.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02074.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02300.hp1
HG02615.hp2
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG03017.hp1
HG03492.hp1
HG03688.hp1
HG03710.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.385-7088A>T
c.385-7088A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68241676
chrX:68241877 C
C
 T
T
 3 a0001c0001t0001g0038
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0001g0038
a0001c0001t0006g0105
a0001c0001t0006g0106
 3 HG02602.hp1
HG02647.hp1
HG02886.hp2
HG02602.hp1
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.385-7289G>A
c.385-7289G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68241877
chrX:68241917 A
A
 G
G
 82 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(79): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0141
a0001c0001t0001g0145
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0123
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0100
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 82 HG00099.hp1
HG00140.hp1
HG00280.hp1
others(79): Show 
HG00099.hp1
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00673.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02074.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02300.hp1
HG02615.hp2
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG03017.hp1
HG03492.hp1
HG03688.hp1
HG03710.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.385-7329T>C
c.385-7329T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68241917
chrX:68241957 G
G
 A
A
 1 a0001c0001t0001g0147
a0001c0001t0001g0147
 1 HG01934.hp1
HG01934.hp1
 intron_variant MODIFIER c.385-7369C>T
c.385-7369C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68241957
chrX:68242044 A
A
 C
C
 1 a0001c0001t0002g0047
a0001c0001t0002g0047
 1 HG00673.hp1
HG00673.hp1
 intron_variant MODIFIER c.385-7456T>G
c.385-7456T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68242044
chrX:68242077 T
T
 C
C
 82 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(79): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0141
a0001c0001t0001g0145
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0123
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0100
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 82 HG00099.hp1
HG00140.hp1
HG00280.hp1
others(79): Show 
HG00099.hp1
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00673.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02074.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02300.hp1
HG02615.hp2
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG03017.hp1
HG03492.hp1
HG03688.hp1
HG03710.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.385-7489A>G
c.385-7489A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68242077
chrX:68242214 C
C
 CA
CA
 25 a0001c0001t0001g0016
a0001c0001t0001g0041
a0001c0001t0001g0053
others(22): Show 
a0001c0001t0001g0016
a0001c0001t0001g0041
a0001c0001t0001g0053
a0001c0001t0001g0067
a0001c0001t0001g0077
a0001c0001t0001g0092
a0001c0001t0001g0098
a0001c0001t0001g0153
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0003g0091
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0004g0095
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0008g0112
a0001c0001t0030g0155
a0002c0002t0001g0002
 25 HG00099.hp2
HG01256.hp1
HG01358.hp1
others(22): Show 
HG00099.hp2
HG01256.hp1
HG01358.hp1
HG02071.hp1
HG02486.hp1
HG02615.hp1
HG02647.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG04228.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18974.hp1
NA19007.hp1
 intron_variant MODIFIER c.385-7627dupT
c.385-7627dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68242214
chrX:68242214 C
C
 CAA
CAA
 7 a0001c0001t0001g0140
a0001c0001t0002g0116
a0001c0001t0002g0133
others(4): Show 
a0001c0001t0001g0140
a0001c0001t0002g0116
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0003g0118
a0001c0001t0004g0117
a0001c0001t0024g0007
 7 HG01891.hp1
HG01891.hp2
HG02572.hp1
others(4): Show 
HG01891.hp1
HG01891.hp2
HG02572.hp1
HG03579.hp1
NA18906.hp2
NA18966.hp1
NA19000.hp1
 intron_variant MODIFIER c.385-7628_385-7627d
others(4): Show 
c.385-7628_385-7627dupTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68242214
chrX:68242214 C
C
 CAAA
CAAA
 2 a0001c0001t0005g0152
a0001c0001t0019g0003
a0001c0001t0005g0152
a0001c0001t0019g0003
 2 HG02630.hp2
HG02809.hp2
HG02630.hp2
HG02809.hp2
 intron_variant MODIFIER c.385-7629_385-7627d
others(5): Show 
c.385-7629_385-7627dupTTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68242214
chrX:68242214 CA
CA
 C
C
 3 a0001c0001t0001g0082
a0001c0001t0001g0145
a0004c0005t0012g0024
a0001c0001t0001g0082
a0001c0001t0001g0145
a0004c0005t0012g0024
 3 HG01169.hp2
HG03710.hp1
NA18944.hp1
HG01169.hp2
HG03710.hp1
NA18944.hp1
 intron_variant MODIFIER c.385-7627delT
c.385-7627delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68242214
chrX:68242246 A
A
 G
G
 2 a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0007g0023
a0001c0001t0007g0033
 2 HG02559.hp1
NA19030.hp1
HG02559.hp1
NA19030.hp1
 intron_variant MODIFIER c.385-7658T>C
c.385-7658T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68242246
chrX:68242447 T
T
 C
C
 1 a0001c0001t0001g0070
a0001c0001t0001g0070
 1 NA19056.hp1
NA19056.hp1
 intron_variant MODIFIER c.385-7859A>G
c.385-7859A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68242447
chrX:68242874 CT
CT
 C
C
 21 a0001c0001t0002g0115
a0001c0001t0002g0133
a0001c0001t0003g0101
others(18): Show 
a0001c0001t0002g0115
a0001c0001t0002g0133
a0001c0001t0003g0101
a0001c0001t0004g0004
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0019g0003
a0001c0001t0021g0150
a0003c0004t0014g0102
 21 HG01081.hp2
HG01167.hp1
HG01169.hp1
others(18): Show 
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01243.hp1
HG01891.hp1
HG02055.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02630.hp1
HG02630.hp2
HG02723.hp1
HG02809.hp2
HG02886.hp1
HG02922.hp2
HG03130.hp1
HG03471.hp1
NA18906.hp1
 intron_variant MODIFIER c.385-8287delA
c.385-8287delA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68242874
chrX:68242914 C
C
 G
G
 2 a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0125
a0001c0001t0002g0127
 2 HG01255.hp1
HG03540.hp1
HG01255.hp1
HG03540.hp1
 intron_variant MODIFIER c.385-8326G>C
c.385-8326G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68242914
chrX:68243057 G
G
 A
A
 3 a0001c0001t0004g0026
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0004g0026
a0001c0001t0006g0120
a0001c0001t0006g0121
 3 HG01167.hp1
HG01169.hp1
NA18906.hp1
HG01167.hp1
HG01169.hp1
NA18906.hp1
 intron_variant MODIFIER c.385-8469C>T
c.385-8469C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68243057
chrX:68243534 C
C
 T
T
 3 a0001c0001t0001g0008
a0001c0001t0001g0079
a0001c0001t0001g0090
a0001c0001t0001g0008
a0001c0001t0001g0079
a0001c0001t0001g0090
 3 HG01346.hp1
HG01433.hp1
NA20752.hp1
HG01346.hp1
HG01433.hp1
NA20752.hp1
 intron_variant MODIFIER c.385-8946G>A
c.385-8946G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68243534
chrX:68244162 A
A
 G
G
 1 a0001c0001t0006g0105
a0001c0001t0006g0105
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.385-9574T>C
c.385-9574T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68244162
chrX:68244445 A
A
 C
C
 1 a0001c0001t0019g0003
a0001c0001t0019g0003
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.385-9857T>G
c.385-9857T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68244445
chrX:68244446 G
G
 C
C
 1 a0001c0001t0003g0035
a0001c0001t0003g0035
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.385-9858C>G
c.385-9858C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68244446
chrX:68245079 A
A
 G
G
 34 a0001c0001t0001g0038
a0001c0001t0001g0044
a0001c0001t0001g0071
others(31): Show 
a0001c0001t0001g0038
a0001c0001t0001g0044
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0016g0119
a0001c0001t0020g0099
a0001c0001t0022g0103
 34 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(31): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG02071.hp1
HG02109.hp2
HG02132.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03942.hp1
NA18522.hp1
NA18612.hp1
NA18966.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.385-10491T>C
c.385-10491T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68245079
chrX:68245467 C
C
 T
T
 1 a0001c0001t0005g0152
a0001c0001t0005g0152
 1 HG02630.hp2
HG02630.hp2
 intron_variant MODIFIER c.385-10879G>A
c.385-10879G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68245467
chrX:68245519 T
T
 C
C
 72 a0001c0001t0001g0038
a0001c0001t0001g0044
a0001c0001t0001g0071
others(69): Show 
a0001c0001t0001g0038
a0001c0001t0001g0044
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0030g0155
a0003c0004t0014g0102
 72 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(69): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01243.hp1
HG01255.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03942.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18966.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.385-10931A>G
c.385-10931A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68245519
chrX:68245743 A
A
 G
G
 1 a0001c0001t0001g0070
a0001c0001t0001g0070
 1 NA19056.hp1
NA19056.hp1
 intron_variant MODIFIER c.385-11155T>C
c.385-11155T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68245743
chrX:68245821 G
G
 A
A
 3 a0001c0001t0001g0009
a0001c0001t0001g0040
a0001c0001t0002g0047
a0001c0001t0001g0009
a0001c0001t0001g0040
a0001c0001t0002g0047
 3 HG00673.hp1
NA18965.hp1
NA18995.hp1
HG00673.hp1
NA18965.hp1
NA18995.hp1
 intron_variant MODIFIER c.385-11233C>T
c.385-11233C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68245821
chrX:68245940 A
A
 G
G
 1 a0001c0001t0001g0145
a0001c0001t0001g0145
 1 NA18944.hp1
NA18944.hp1
 intron_variant MODIFIER c.385-11352T>C
c.385-11352T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68245940
chrX:68246104 C
C
 T
T
 23 a0001c0001t0002g0115
a0001c0001t0002g0125
a0001c0001t0002g0127
others(20): Show 
a0001c0001t0002g0115
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0133
a0001c0001t0003g0101
a0001c0001t0004g0004
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0019g0003
a0001c0001t0021g0150
a0003c0004t0014g0102
 23 HG01081.hp2
HG01167.hp1
HG01169.hp1
others(20): Show 
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01243.hp1
HG01255.hp1
HG01891.hp1
HG02055.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02630.hp1
HG02630.hp2
HG02723.hp1
HG02809.hp2
HG02886.hp1
HG02922.hp2
HG03130.hp1
HG03471.hp1
HG03540.hp1
NA18906.hp1
 intron_variant MODIFIER c.385-11516G>A
c.385-11516G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68246104
chrX:68246158 T
T
 A
A
 3 a0001c0001t0004g0004
a0001c0001t0006g0013
a0001c0001t0007g0032
a0001c0001t0004g0004
a0001c0001t0006g0013
a0001c0001t0007g0032
 3 HG02109.hp1
HG02630.hp1
HG03130.hp1
HG02109.hp1
HG02630.hp1
HG03130.hp1
 intron_variant MODIFIER c.385-11570A>T
c.385-11570A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68246158
chrX:68246205 C
C
 G
G
 2 a0001c0001t0001g0075
a0001c0001t0002g0057
a0001c0001t0001g0075
a0001c0001t0002g0057
 2 NA18977.hp1
NA19012.hp1
NA18977.hp1
NA19012.hp1
 intron_variant MODIFIER c.385-11617G>C
c.385-11617G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68246205
chrX:68246205 C
C
 T
T
 1 a0001c0001t0007g0032
a0001c0001t0007g0032
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.385-11617G>A
c.385-11617G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68246205
chrX:68246488 G
G
 C
C
 1 a0001c0001t0023g0037
a0001c0001t0023g0037
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.385-11900C>G
c.385-11900C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68246488
chrX:68246568 G
G
 A
A
 3 a0001c0001t0001g0041
a0001c0001t0001g0092
a0001c0001t0024g0007
a0001c0001t0001g0041
a0001c0001t0001g0092
a0001c0001t0024g0007
 3 NA18960.hp1
NA19000.hp1
NA19007.hp1
NA18960.hp1
NA19000.hp1
NA19007.hp1
 intron_variant MODIFIER c.385-11980C>T
c.385-11980C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68246568
chrX:68246627 T
T
 C
C
 1 a0001c0001t0003g0035
a0001c0001t0003g0035
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.385-12039A>G
c.385-12039A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68246627
chrX:68246671 G
G
 A
A
 1 a0001c0001t0001g0028
a0001c0001t0001g0028
 1 HG02083.hp1
HG02083.hp1
 intron_variant MODIFIER c.385-12083C>T
c.385-12083C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68246671
chrX:68246748 A
A
 G
G
 72 a0001c0001t0001g0038
a0001c0001t0001g0044
a0001c0001t0001g0071
others(69): Show 
a0001c0001t0001g0038
a0001c0001t0001g0044
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0030g0155
a0003c0004t0014g0102
 72 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(69): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01243.hp1
HG01255.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03942.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18966.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.385-12160T>C
c.385-12160T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68246748
chrX:68246841 C
C
 A
A
 30 a0001c0001t0001g0038
a0001c0001t0001g0044
a0001c0001t0001g0071
others(27): Show 
a0001c0001t0001g0038
a0001c0001t0001g0044
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0007g0022
a0001c0001t0016g0119
a0001c0001t0020g0099
a0001c0001t0022g0103
 30 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(27): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG02071.hp1
HG02109.hp2
HG02132.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03942.hp1
NA18522.hp1
NA18612.hp1
NA18966.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.385-12253G>T
c.385-12253G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68246841
chrX:68247041 C
C
 T
T
 1 a0001c0001t0006g0013
a0001c0001t0006g0013
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.385-12453G>A
c.385-12453G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68247041
chrX:68247132 G
G
 A
A
 72 a0001c0001t0001g0038
a0001c0001t0001g0044
a0001c0001t0001g0071
others(69): Show 
a0001c0001t0001g0038
a0001c0001t0001g0044
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0030g0155
a0003c0004t0014g0102
 72 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(69): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01243.hp1
HG01255.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03942.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18966.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.385-12544C>T
c.385-12544C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68247132
chrX:68247250 T
T
 C
C
 2 a0001c0001t0001g0046
a0004c0005t0012g0024
a0001c0001t0001g0046
a0004c0005t0012g0024
 2 HG01169.hp2
HG01928.hp1
HG01169.hp2
HG01928.hp1
 intron_variant MODIFIER c.385-12662A>G
c.385-12662A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68247250
chrX:68247324 G
G
 A
A
 15 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(12): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0008g0112
a0001c0001t0030g0155
 15 HG01891.hp2
HG02486.hp1
HG02572.hp1
others(12): Show 
HG01891.hp2
HG02486.hp1
HG02572.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.385-12736C>T
c.385-12736C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68247324
chrX:68247689 C
C
 T
T
 2 a0001c0001t0005g0152
a0001c0001t0019g0003
a0001c0001t0005g0152
a0001c0001t0019g0003
 2 HG02630.hp2
HG02809.hp2
HG02630.hp2
HG02809.hp2
 intron_variant MODIFIER c.385-13101G>A
c.385-13101G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68247689
chrX:68247709 A
A
 G
G
 1 a0001c0001t0003g0122
a0001c0001t0003g0122
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.385-13121T>C
c.385-13121T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68247709
chrX:68247755 C
C
 CA
CA
 9 a0001c0001t0001g0043
a0001c0001t0001g0053
a0001c0001t0001g0073
others(6): Show 
a0001c0001t0001g0043
a0001c0001t0001g0053
a0001c0001t0001g0073
a0001c0001t0001g0075
a0001c0001t0001g0140
a0001c0001t0002g0057
a0001c0001t0002g0126
a0001c0001t0003g0076
a0001c0001t0004g0005
 9 HG00735.hp2
HG01192.hp1
HG03225.hp1
others(6): Show 
HG00735.hp2
HG01192.hp1
HG03225.hp1
NA18747.hp1
NA18966.hp1
NA18974.hp1
NA18977.hp1
NA19012.hp1
NA19068.hp1
 intron_variant MODIFIER c.385-13168dupT
c.385-13168dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68247755
chrX:68247755 CA
CA
 C
C
 23 a0001c0001t0002g0115
a0001c0001t0002g0125
a0001c0001t0002g0127
others(20): Show 
a0001c0001t0002g0115
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0133
a0001c0001t0003g0101
a0001c0001t0004g0004
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0019g0003
a0001c0001t0021g0150
a0003c0004t0014g0102
 23 HG01081.hp2
HG01167.hp1
HG01169.hp1
others(20): Show 
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01243.hp1
HG01255.hp1
HG01891.hp1
HG02055.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02630.hp1
HG02630.hp2
HG02723.hp1
HG02809.hp2
HG02886.hp1
HG02922.hp2
HG03130.hp1
HG03471.hp1
HG03540.hp1
NA18906.hp1
 intron_variant MODIFIER c.385-13168delT
c.385-13168delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68247755
chrX:68247769 A
A
 C
C
 13 a0001c0001t0001g0071
a0001c0001t0002g0115
a0001c0001t0002g0133
others(10): Show 
a0001c0001t0001g0071
a0001c0001t0002g0115
a0001c0001t0002g0133
a0001c0001t0003g0101
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0006g0013
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0009g0128
a0001c0001t0009g0129
a0003c0004t0014g0102
 13 HG00642.hp1
HG01243.hp1
HG01891.hp1
others(10): Show 
HG00642.hp1
HG01243.hp1
HG01891.hp1
HG02145.hp1
HG02257.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02630.hp1
HG02723.hp1
HG02886.hp1
HG02922.hp2
HG03130.hp1
 intron_variant MODIFIER c.385-13181T>G
c.385-13181T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68247769
chrX:68247809 A
A
 G
G
 1 a0001c0001t0007g0032
a0001c0001t0007g0032
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.385-13221T>C
c.385-13221T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68247809
chrX:68247878 C
C
 T
T
 1 a0001c0001t0001g0146
a0001c0001t0001g0146
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.385-13290G>A
c.385-13290G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68247878
chrX:68248017 C
C
 A
A
 1 a0001c0001t0002g0021
a0001c0001t0002g0021
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.385-13429G>T
c.385-13429G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68248017
chrX:68248135 C
C
 A
A
 23 a0001c0001t0002g0115
a0001c0001t0002g0125
a0001c0001t0002g0127
others(20): Show 
a0001c0001t0002g0115
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0133
a0001c0001t0003g0101
a0001c0001t0004g0004
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0019g0003
a0001c0001t0021g0150
a0003c0004t0014g0102
 23 HG01081.hp2
HG01167.hp1
HG01169.hp1
others(20): Show 
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01243.hp1
HG01255.hp1
HG01891.hp1
HG02055.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02630.hp1
HG02630.hp2
HG02723.hp1
HG02809.hp2
HG02886.hp1
HG02922.hp2
HG03130.hp1
HG03471.hp1
HG03540.hp1
NA18906.hp1
 intron_variant MODIFIER c.385-13547G>T
c.385-13547G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68248135
chrX:68248300 C
C
 CA
CA
 40 a0001c0001t0001g0038
a0001c0001t0001g0044
a0001c0001t0001g0071
others(37): Show 
a0001c0001t0001g0038
a0001c0001t0001g0044
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0016g0119
a0001c0001t0019g0003
a0001c0001t0021g0150
a0001c0001t0022g0103
 40 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(37): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01255.hp1
HG02055.hp1
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02976.hp1
HG03209.hp1
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG03942.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18966.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.385-13713dupT
c.385-13713dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68248300
chrX:68248300 C
C
 CAA
CAA
 17 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(14): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0008g0112
a0001c0001t0030g0155
 17 HG01891.hp2
HG02486.hp1
HG02559.hp1
others(14): Show 
HG01891.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
NA19030.hp1
 intron_variant MODIFIER c.385-13714_385-1371
others(6): Show 
c.385-13714_385-13713dupTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68248300
chrX:68248424 C
C
 T
T
 1 a0001c0001t0001g0088
a0001c0001t0001g0088
 1 HG02056.hp1
HG02056.hp1
 intron_variant MODIFIER c.385-13836G>A
c.385-13836G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68248424
chrX:68248497 T
T
 C
C
 9 a0001c0001t0004g0004
a0001c0001t0004g0026
a0001c0001t0004g0030
others(6): Show 
a0001c0001t0004g0004
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0005g0152
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0019g0003
a0001c0001t0021g0150
 9 HG01081.hp2
HG01167.hp1
HG01169.hp1
others(6): Show 
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG02055.hp1
HG02109.hp1
HG02630.hp2
HG02809.hp2
HG03471.hp1
NA18906.hp1
 intron_variant MODIFIER c.385-13909A>G
c.385-13909A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68248497
chrX:68249609 T
T
 C
C
 72 a0001c0001t0001g0038
a0001c0001t0001g0044
a0001c0001t0001g0071
others(69): Show 
a0001c0001t0001g0038
a0001c0001t0001g0044
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0030g0155
a0003c0004t0014g0102
 72 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(69): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01243.hp1
HG01255.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03942.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18966.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.385-15021A>G
c.385-15021A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68249609
chrX:68249961 C
C
 A
A
 72 a0001c0001t0001g0038
a0001c0001t0001g0044
a0001c0001t0001g0071
others(69): Show 
a0001c0001t0001g0038
a0001c0001t0001g0044
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0030g0155
a0003c0004t0014g0102
 72 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(69): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01243.hp1
HG01255.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03942.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18966.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.385-15373G>T
c.385-15373G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68249961
chrX:68250485 C
C
 G
G
 1 a0001c0001t0001g0073
a0001c0001t0001g0073
 1 NA19068.hp1
NA19068.hp1
 intron_variant MODIFIER c.385-15897G>C
c.385-15897G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68250485
chrX:68250510 G
G
 T
T
 1 a0001c0001t0001g0073
a0001c0001t0001g0073
 1 NA19068.hp1
NA19068.hp1
 intron_variant MODIFIER c.385-15922C>A
c.385-15922C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68250510
chrX:68250865 T
T
 G
G
 20 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(17): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0008g0112
a0001c0001t0020g0099
a0001c0001t0030g0155
 20 HG00738.hp1
HG01891.hp2
HG02109.hp1
others(17): Show 
HG00738.hp1
HG01891.hp2
HG02109.hp1
HG02486.hp1
HG02572.hp1
HG02647.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
NA19043.hp1
 intron_variant MODIFIER c.385-16277A>C
c.385-16277A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68250865
chrX:68250957 C
C
 A
A
 4 a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0006g0105
others(1): Show 
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0006g0105
a0001c0001t0006g0106
 4 HG02109.hp1
HG02647.hp1
HG02886.hp2
others(1): Show 
HG02109.hp1
HG02647.hp1
HG02886.hp2
NA19043.hp1
 intron_variant MODIFIER c.385-16369G>T
c.385-16369G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68250957
chrX:68251178 ATGT
ATGT
 A
A
 1 a0001c0001t0020g0099
a0001c0001t0020g0099
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.385-16593_385-1659
others(7): Show 
c.385-16593_385-16591delACA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68251178
chrX:68251180 G
G
 GT
GT
 12 a0001c0001t0001g0088
a0001c0001t0001g0097
a0001c0001t0001g0140
others(9): Show 
a0001c0001t0001g0088
a0001c0001t0001g0097
a0001c0001t0001g0140
a0001c0001t0001g0145
a0001c0001t0002g0054
a0001c0001t0002g0057
a0001c0001t0003g0063
a0001c0001t0003g0100
a0001c0001t0004g0004
a0001c0001t0005g0137
a0001c0001t0008g0096
a0001c0001t0024g0007
 12 HG01106.hp1
HG02056.hp1
HG02109.hp1
others(9): Show 
HG01106.hp1
HG02056.hp1
HG02109.hp1
HG02257.hp1
HG02818.hp1
HG04199.hp1
NA18944.hp1
NA18966.hp1
NA18970.hp1
NA18986.hp1
NA19000.hp1
NA19012.hp1
 intron_variant MODIFIER c.385-16593dupA
c.385-16593dupA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68251180
chrX:68251180 GT
GT
 G
G
 8 a0001c0001t0001g0016
a0001c0001t0001g0062
a0001c0001t0001g0080
others(5): Show 
a0001c0001t0001g0016
a0001c0001t0001g0062
a0001c0001t0001g0080
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0019g0003
 8 HG01256.hp1
HG02257.hp2
HG02559.hp1
others(5): Show 
HG01256.hp1
HG02257.hp2
HG02559.hp1
HG02809.hp2
HG03017.hp1
HG03130.hp1
HG03516.hp2
NA19009.hp1
 intron_variant MODIFIER c.385-16593delA
c.385-16593delA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68251180
chrX:68251180 GTT
GTT
 G
G
 19 a0001c0001t0002g0014
a0001c0001t0002g0114
a0001c0001t0002g0116
others(16): Show 
a0001c0001t0002g0014
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0030g0155
 19 HG01243.hp1
HG01891.hp1
HG01891.hp2
others(16): Show 
HG01243.hp1
HG01891.hp1
HG01891.hp2
HG02451.hp1
HG02486.hp1
HG02572.hp1
HG02630.hp1
HG02630.hp2
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03540.hp2
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.385-16594_385-1659
others(6): Show 
c.385-16594_385-16593delAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68251180
chrX:68251368 T
T
 C
C
 3 a0001c0001t0002g0021
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0002g0021
a0001c0001t0007g0023
a0001c0001t0007g0033
 3 HG02257.hp2
HG02559.hp1
NA19030.hp1
HG02257.hp2
HG02559.hp1
NA19030.hp1
 intron_variant MODIFIER c.385-16780A>G
c.385-16780A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68251368
chrX:68251379 T
T
 C
C
 1 a0001c0001t0003g0122
a0001c0001t0003g0122
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.385-16791A>G
c.385-16791A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68251379
chrX:68251454 G
G
 A
A
 1 a0001c0001t0002g0057
a0001c0001t0002g0057
 1 NA19012.hp1
NA19012.hp1
 intron_variant MODIFIER c.385-16866C>T
c.385-16866C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68251454
chrX:68251554 G
G
 C
C
 5 a0001c0001t0003g0101
a0001c0001t0004g0010
a0001c0001t0004g0011
others(2): Show 
a0001c0001t0003g0101
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0003c0004t0014g0102
 5 HG02280.hp2
HG02451.hp2
HG02723.hp1
others(2): Show 
HG02280.hp2
HG02451.hp2
HG02723.hp1
HG02886.hp1
HG02922.hp2
 intron_variant MODIFIER c.385-16966C>G
c.385-16966C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68251554
chrX:68251764 TC
TC
 T
T
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.385-17177delG
c.385-17177delG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68251764
chrX:68252019 T
T
 C
C
 1 a0001c0001t0003g0113
a0001c0001t0003g0113
 1 HG02723.hp2
HG02723.hp2
 intron_variant MODIFIER c.385-17431A>G
c.385-17431A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68252019
chrX:68252077 A
A
 T
T
 1 a0001c0001t0001g0071
a0001c0001t0001g0071
 1 HG00642.hp1
HG00642.hp1
 intron_variant MODIFIER c.385-17489T>A
c.385-17489T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68252077
chrX:68252394 T
T
 C
C
 6 a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
others(3): Show 
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0021g0150
 6 HG01081.hp2
HG01167.hp1
HG01169.hp1
others(3): Show 
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG02055.hp1
HG03471.hp1
NA18906.hp1
 intron_variant MODIFIER c.385-17806A>G
c.385-17806A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68252394
chrX:68252919 G
G
 GT
GT
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.385-18332dupA
c.385-18332dupA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68252919
chrX:68252981 T
T
 C
C
 2 a0001c0001t0003g0113
a0001c0001t0004g0005
a0001c0001t0003g0113
a0001c0001t0004g0005
 2 HG00735.hp2
HG02723.hp2
HG00735.hp2
HG02723.hp2
 intron_variant MODIFIER c.385-18393A>G
c.385-18393A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68252981
chrX:68252982 G
G
 A
A
 3 a0001c0001t0001g0062
a0001c0001t0001g0088
a0001c0001t0025g0087
a0001c0001t0001g0062
a0001c0001t0001g0088
a0001c0001t0025g0087
 3 HG02056.hp1
NA18943.hp1
NA19009.hp1
HG02056.hp1
NA18943.hp1
NA19009.hp1
 intron_variant MODIFIER c.385-18394C>T
c.385-18394C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68252982
chrX:68253052 TA
TA
 T
T
 5 a0001c0001t0002g0133
a0001c0001t0003g0113
a0001c0001t0005g0152
others(2): Show 
a0001c0001t0002g0133
a0001c0001t0003g0113
a0001c0001t0005g0152
a0001c0001t0009g0128
a0001c0001t0009g0129
 5 HG01243.hp1
HG01891.hp1
HG02451.hp1
others(2): Show 
HG01243.hp1
HG01891.hp1
HG02451.hp1
HG02630.hp2
HG02723.hp2
 intron_variant MODIFIER c.385-18465delT
c.385-18465delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68253052
chrX:68253293 GA
GA
 G
G
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.385-18706delT
c.385-18706delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68253293
chrX:68253340 T
T
 C
C
 5 a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0006g0105
others(2): Show 
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0020g0099
 5 HG00738.hp1
HG02109.hp1
HG02647.hp1
others(2): Show 
HG00738.hp1
HG02109.hp1
HG02647.hp1
HG02886.hp2
NA19043.hp1
 intron_variant MODIFIER c.385-18752A>G
c.385-18752A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68253340
chrX:68253505 T
T
 C
C
 1 a0001c0001t0003g0109
a0001c0001t0003g0109
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.385-18917A>G
c.385-18917A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68253505
chrX:68253642 AT
AT
 A
A
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.385-19055delA
c.385-19055delA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68253642
chrX:68253782 C
C
 T
T
 3 a0001c0001t0004g0004
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0004g0004
a0001c0001t0006g0105
a0001c0001t0006g0106
 3 HG02109.hp1
HG02647.hp1
HG02886.hp2
HG02109.hp1
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.385-19194G>A
c.385-19194G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68253782
chrX:68253809 T
T
 C
C
 3 a0001c0001t0004g0004
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0004g0004
a0001c0001t0006g0105
a0001c0001t0006g0106
 3 HG02109.hp1
HG02647.hp1
HG02886.hp2
HG02109.hp1
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.385-19221A>G
c.385-19221A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68253809
chrX:68253861 T
T
 C
C
 1 a0001c0001t0001g0066
a0001c0001t0001g0066
 1 NA18990.hp1
NA18990.hp1
 intron_variant MODIFIER c.385-19273A>G
c.385-19273A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68253861
chrX:68254636 T
T
 C
C
 2 a0001c0001t0003g0076
a0001c0001t0003g0100
a0001c0001t0003g0076
a0001c0001t0003g0100
 2 HG01106.hp1
HG01192.hp1
HG01106.hp1
HG01192.hp1
 intron_variant MODIFIER c.385-20048A>G
c.385-20048A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68254636
chrX:68254688 T
T
 TC
TC
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.384+20049dupG
c.384+20049dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68254688
chrX:68254915 G
G
 T
T
 8 a0001c0001t0002g0134
a0001c0001t0003g0091
a0001c0001t0003g0109
others(5): Show 
a0001c0001t0002g0134
a0001c0001t0003g0091
a0001c0001t0003g0109
a0001c0001t0003g0139
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0008g0096
 8 HG00099.hp2
HG02257.hp1
HG02258.hp1
others(5): Show 
HG00099.hp2
HG02257.hp1
HG02258.hp1
HG02559.hp2
HG02615.hp1
HG02717.hp1
HG02818.hp1
HG02976.hp1
 intron_variant MODIFIER c.384+19823C>A
c.384+19823C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68254915
chrX:68255017 G
G
 GA
GA
 8 a0001c0001t0001g0048
a0001c0001t0001g0075
a0001c0001t0002g0057
others(5): Show 
a0001c0001t0001g0048
a0001c0001t0001g0075
a0001c0001t0002g0057
a0001c0001t0002g0127
a0001c0001t0003g0091
a0001c0001t0003g0109
a0001c0001t0003g0122
a0001c0001t0008g0096
 8 HG00099.hp2
HG02257.hp1
HG02615.hp1
others(5): Show 
HG00099.hp2
HG02257.hp1
HG02615.hp1
HG02738.hp1
HG03540.hp1
NA18977.hp1
NA19012.hp1
NA19043.hp1
 intron_variant MODIFIER c.384+19720dupT
c.384+19720dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68255017
chrX:68255017 GA
GA
 G
G
 24 a0001c0001t0001g0027
a0001c0001t0001g0053
a0001c0001t0002g0014
others(21): Show 
a0001c0001t0001g0027
a0001c0001t0001g0053
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0003g0020
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0019g0003
a0001c0001t0030g0155
 24 HG01243.hp1
HG01891.hp1
HG01891.hp2
others(21): Show 
HG01243.hp1
HG01891.hp1
HG01891.hp2
HG02451.hp1
HG02486.hp1
HG02572.hp1
HG02630.hp1
HG02630.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
NA18974.hp1
NA18994.hp1
 intron_variant MODIFIER c.384+19720delT
c.384+19720delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68255017
chrX:68255017 GAA
GAA
 G
G
 1 a0001c0001t0007g0032
a0001c0001t0007g0032
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.384+19719_384+1972
others(6): Show 
c.384+19719_384+19720delTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68255017
chrX:68255223 T
T
 C
C
 34 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0044
others(31): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0044
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0016g0119
a0001c0001t0022g0103
 34 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(31): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG01081.hp1
HG01255.hp1
HG01346.hp1
HG02071.hp1
HG02109.hp2
HG02132.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG03942.hp1
NA18522.hp1
NA18612.hp1
NA18966.hp1
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.384+19515A>G
c.384+19515A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68255223
chrX:68255359 C
C
 CA
CA
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.384+19378dupT
c.384+19378dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68255359
chrX:68255386 A
A
 T
T
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.384+19352T>A
c.384+19352T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68255386
chrX:68255724 TAC
TAC
 T
T
 1 a0001c0001t0003g0122
a0001c0001t0003g0122
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.384+19012_384+1901
others(6): Show 
c.384+19012_384+19013delGT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68255724
chrX:68255740 A
A
 AAC
AAC
 3 a0001c0001t0004g0004
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0004g0004
a0001c0001t0006g0105
a0001c0001t0006g0106
 3 HG02109.hp1
HG02647.hp1
HG02886.hp2
HG02109.hp1
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.384+18996_384+1899
others(6): Show 
c.384+18996_384+18997dupGT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68255740
chrX:68255740 AAC
AAC
 A
A
 2 a0001c0001t0006g0013
a0001c0001t0007g0032
a0001c0001t0006g0013
a0001c0001t0007g0032
 2 HG02630.hp1
HG03130.hp1
HG02630.hp1
HG03130.hp1
 intron_variant MODIFIER c.384+18996_384+1899
others(6): Show 
c.384+18996_384+18997delGT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68255740
chrX:68255777 C
C
 T
T
 5 a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0006g0105
others(2): Show 
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0020g0099
 5 HG00738.hp1
HG02109.hp1
HG02647.hp1
others(2): Show 
HG00738.hp1
HG02109.hp1
HG02647.hp1
HG02886.hp2
NA19043.hp1
 intron_variant MODIFIER c.384+18961G>A
c.384+18961G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68255777
chrX:68256122 G
G
 A
A
 1 a0001c0001t0003g0081
a0001c0001t0003g0081
 1 HG03492.hp1
HG03492.hp1
 intron_variant MODIFIER c.384+18616C>T
c.384+18616C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68256122
chrX:68256720 C
C
 A
A
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.384+18018G>T
c.384+18018G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68256720
chrX:68256817 A
A
 C
C
 1 a0001c0001t0016g0119
a0001c0001t0016g0119
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.384+17921T>G
c.384+17921T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68256817
chrX:68256857 C
C
 T
T
 4 a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0006g0105
others(1): Show 
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0006g0105
a0001c0001t0006g0106
 4 HG02109.hp1
HG02647.hp1
HG02886.hp2
others(1): Show 
HG02109.hp1
HG02647.hp1
HG02886.hp2
NA19043.hp1
 intron_variant MODIFIER c.384+17881G>A
c.384+17881G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68256857
chrX:68257041 T
T
 TA
TA
 1 a0001c0001t0002g0115
a0001c0001t0002g0115
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.384+17696dupT
c.384+17696dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68257041
chrX:68257041 TA
TA
 T
T
 2 a0001c0001t0001g0053
a0001c0001t0006g0013
a0001c0001t0001g0053
a0001c0001t0006g0013
 2 HG02630.hp1
NA18974.hp1
HG02630.hp1
NA18974.hp1
 intron_variant MODIFIER c.384+17696delT
c.384+17696delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68257041
chrX:68257231 A
A
 C
C
 1 a0002c0002t0001g0002
a0002c0002t0001g0002
 1 HG01358.hp1
HG01358.hp1
 intron_variant MODIFIER c.384+17507T>G
c.384+17507T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68257231
chrX:68257302 A
A
 G
G
 1 a0001c0001t0005g0138
a0001c0001t0005g0138
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.384+17436T>C
c.384+17436T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68257302
chrX:68257615 C
C
 CA
CA
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.384+17122dupT
c.384+17122dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68257615
chrX:68258306 A
A
 T
T
 67 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0044
others(64): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0044
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0019g0003
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0030g0155
 67 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(64): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03942.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18966.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.384+16432T>A
c.384+16432T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68258306
chrX:68258310 C
C
 A
A
 68 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0044
others(65): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0044
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0030g0155
 68 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(65): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03942.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18966.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.384+16428G>T
c.384+16428G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68258310
chrX:68258393 T
T
 TC
TC
 2 a0001c0001t0001g0071
a0001c0001t0001g0147
a0001c0001t0001g0071
a0001c0001t0001g0147
 2 HG00642.hp1
HG01934.hp1
HG00642.hp1
HG01934.hp1
 intron_variant MODIFIER c.384+16344dupG
c.384+16344dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68258393
chrX:68258398 CCT
CCT
 C
C
 1 a0001c0001t0020g0099
a0001c0001t0020g0099
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.384+16338_384+1633
others(6): Show 
c.384+16338_384+16339delAG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68258398
chrX:68258399 C
C
 CCT
CCT
 1 a0001c0001t0002g0115
a0001c0001t0002g0115
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.384+16338_384+1633
others(6): Show 
c.384+16338_384+16339insAG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68258399
chrX:68258400 T
T
 C
C
 1 a0001c0001t0002g0115
a0001c0001t0002g0115
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.384+16338A>G
c.384+16338A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68258400
chrX:68258400 T
T
 TC
TC
 6 a0001c0001t0001g0053
a0001c0001t0001g0070
a0001c0001t0001g0088
others(3): Show 
a0001c0001t0001g0053
a0001c0001t0001g0070
a0001c0001t0001g0088
a0001c0001t0002g0125
a0001c0001t0002g0131
a0001c0001t0007g0033
 6 HG01255.hp1
HG02056.hp1
HG02965.hp1
others(3): Show 
HG01255.hp1
HG02056.hp1
HG02965.hp1
NA18974.hp1
NA19030.hp1
NA19056.hp1
 intron_variant MODIFIER c.384+16337dupG
c.384+16337dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68258400
chrX:68258413 A
A
 AACCCCCC
AACCCCCC
 62 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0044
others(59): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0044
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0030g0155
 62 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(59): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG01891.hp1
HG01891.hp2
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03942.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp2
NA18966.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.384+16318_384+1632
others(11): Show 
c.384+16318_384+16324dupGGGGGGT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68258413
chrX:68258726 C
C
 T
T
 6 a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
others(3): Show 
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0021g0150
 6 HG01081.hp2
HG01167.hp1
HG01169.hp1
others(3): Show 
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG02055.hp1
HG03471.hp1
NA18906.hp1
 intron_variant MODIFIER c.384+16012G>A
c.384+16012G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68258726
chrX:68258853 C
C
 A
A
 1 a0001c0001t0009g0128
a0001c0001t0009g0128
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.384+15885G>T
c.384+15885G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68258853
chrX:68259045 A
A
 G
G
 7 a0001c0001t0002g0134
a0001c0001t0003g0109
a0001c0001t0003g0139
others(4): Show 
a0001c0001t0002g0134
a0001c0001t0003g0109
a0001c0001t0003g0139
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0008g0096
 7 HG02257.hp1
HG02258.hp1
HG02559.hp2
others(4): Show 
HG02257.hp1
HG02258.hp1
HG02559.hp2
HG02615.hp1
HG02717.hp1
HG02818.hp1
HG02976.hp1
 intron_variant MODIFIER c.384+15693T>C
c.384+15693T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68259045
chrX:68259251 G
G
 C
C
 15 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(12): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0008g0112
a0001c0001t0030g0155
 15 HG01891.hp2
HG02486.hp1
HG02572.hp1
others(12): Show 
HG01891.hp2
HG02486.hp1
HG02572.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.384+15487C>G
c.384+15487C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68259251
chrX:68259464 T
T
 C
C
 1 a0001c0001t0020g0099
a0001c0001t0020g0099
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.384+15274A>G
c.384+15274A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68259464
chrX:68259479 T
T
 A
A
 1 a0001c0001t0003g0101
a0001c0001t0003g0101
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.384+15259A>T
c.384+15259A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68259479
chrX:68259549 T
T
 C
C
 1 a0001c0001t0022g0103
a0001c0001t0022g0103
 1 HG01081.hp1
HG01081.hp1
 intron_variant MODIFIER c.384+15189A>G
c.384+15189A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68259549
chrX:68259999 C
C
 T
T
 3 a0001c0001t0004g0004
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0004g0004
a0001c0001t0006g0105
a0001c0001t0006g0106
 3 HG02109.hp1
HG02647.hp1
HG02886.hp2
HG02109.hp1
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.384+14739G>A
c.384+14739G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68259999
chrX:68260400 G
G
 C
C
 5 a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0006g0105
others(2): Show 
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0020g0099
 5 HG00738.hp1
HG02109.hp1
HG02647.hp1
others(2): Show 
HG00738.hp1
HG02109.hp1
HG02647.hp1
HG02886.hp2
NA19043.hp1
 intron_variant MODIFIER c.384+14338C>G
c.384+14338C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68260400
chrX:68260413 G
G
 T
T
 2 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0014
a0001c0001t0002g0108
 2 HG03098.hp1
HG03516.hp2
HG03098.hp1
HG03516.hp2
 intron_variant MODIFIER c.384+14325C>A
c.384+14325C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68260413
chrX:68260853 T
T
 C
C
 1 a0001c0001t0020g0099
a0001c0001t0020g0099
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.384+13885A>G
c.384+13885A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68260853
chrX:68261282 C
C
 G
G
 1 a0001c0001t0004g0034
a0001c0001t0004g0034
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.384+13456G>C
c.384+13456G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68261282
chrX:68261320 T
T
 C
C
 1 a0001c0001t0001g0077
a0001c0001t0001g0077
 1 HG02071.hp1
HG02071.hp1
 intron_variant MODIFIER c.384+13418A>G
c.384+13418A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68261320
chrX:68261420 A
A
 T
T
 1 a0001c0001t0003g0122
a0001c0001t0003g0122
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.384+13318T>A
c.384+13318T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68261420
chrX:68261455 C
C
 T
T
 6 a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
others(3): Show 
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0021g0150
 6 HG01081.hp2
HG01167.hp1
HG01169.hp1
others(3): Show 
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG02055.hp1
HG03471.hp1
NA18906.hp1
 intron_variant MODIFIER c.384+13283G>A
c.384+13283G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68261455
chrX:68261518 G
G
 A
A
 3 a0001c0001t0004g0004
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0004g0004
a0001c0001t0006g0105
a0001c0001t0006g0106
 3 HG02109.hp1
HG02647.hp1
HG02886.hp2
HG02109.hp1
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.384+13220C>T
c.384+13220C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68261518
chrX:68261566 T
T
 C
C
 65 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0044
others(62): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0044
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0030g0155
 65 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(62): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02071.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03942.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18966.hp1
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.384+13172A>G
c.384+13172A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68261566
chrX:68261835 CT
CT
 C
C
 1 a0001c0001t0020g0099
a0001c0001t0020g0099
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.384+12902delA
c.384+12902delA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68261835
chrX:68262119 G
G
 C
C
 36 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0044
others(33): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0044
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0022g0103
 36 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(33): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG01081.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG02071.hp1
HG02109.hp2
HG02132.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG03942.hp1
NA18522.hp1
NA18612.hp1
NA18944.hp1
NA18966.hp1
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.384+12619C>G
c.384+12619C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68262119
chrX:68262259 G
G
 C
C
 25 a0001c0001t0002g0014
a0001c0001t0002g0021
a0001c0001t0002g0108
others(22): Show 
a0001c0001t0002g0014
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0019g0003
a0001c0001t0030g0155
 25 HG01891.hp1
HG01891.hp2
HG02145.hp1
others(22): Show 
HG01891.hp1
HG01891.hp2
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02630.hp1
HG02630.hp2
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
NA19030.hp1
 intron_variant MODIFIER c.384+12479C>G
c.384+12479C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68262259
chrX:68262405 G
G
 C
C
 1 a0001c0001t0002g0133
a0001c0001t0002g0133
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.384+12333C>G
c.384+12333C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68262405
chrX:68262705 T
T
 C
C
 1 a0001c0001t0013g0042
a0001c0001t0013g0042
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.384+12033A>G
c.384+12033A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68262705
chrX:68262718 C
C
 T
T
 2 a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0105
a0001c0001t0006g0106
 2 HG02647.hp1
HG02886.hp2
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.384+12020G>A
c.384+12020G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68262718
chrX:68262728 G
G
 A
A
 1 a0001c0001t0003g0122
a0001c0001t0003g0122
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.384+12010C>T
c.384+12010C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68262728
chrX:68262821 A
A
 AGAAAG
AGAAAG
 5 a0001c0001t0001g0017
a0001c0001t0001g0050
a0001c0001t0001g0070
others(2): Show 
a0001c0001t0001g0017
a0001c0001t0001g0050
a0001c0001t0001g0070
a0001c0001t0001g0086
a0001c0001t0001g0154
 5 HG00609.hp1
NA18971.hp1
NA19005.hp1
others(2): Show 
HG00609.hp1
NA18971.hp1
NA19005.hp1
NA19056.hp1
NA19060.hp1
 intron_variant MODIFIER c.384+11912_384+1191
others(9): Show 
c.384+11912_384+11916dupCTTTC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68262821
chrX:68262829 A
A
 AAGGAC
AAGGAC
 95 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(92): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0003c0004t0014g0102
a0004c0005t0012g0024
 95 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(92): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00621.hp1
HG00673.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02818.hp1
HG02886.hp1
HG02922.hp2
HG02976.hp1
HG03017.hp1
HG03490.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19007.hp1
NA19009.hp1
NA19030.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.384+11904_384+1190
others(9): Show 
c.384+11904_384+11908dupGTCCT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68262829
chrX:68262829 A
A
 AAGGACAG
others(3): Show 
AAGGACAGGAC
 3 a0001c0001t0002g0057
a0001c0001t0003g0081
a0001c0001t0022g0103
a0001c0001t0002g0057
a0001c0001t0003g0081
a0001c0001t0022g0103
 3 HG01081.hp1
HG03492.hp1
NA19012.hp1
HG01081.hp1
HG03492.hp1
NA19012.hp1
 intron_variant MODIFIER c.384+11899_384+1190
others(14): Show 
c.384+11899_384+11908dupGTCCTGTCCT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68262829
chrX:68262829 AAGGAC
AAGGAC
 A
A
 5 a0001c0001t0003g0151
a0001c0001t0004g0094
a0001c0001t0004g0095
others(2): Show 
a0001c0001t0003g0151
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0007g0022
a0001c0001t0007g0032
 5 HG03130.hp1
HG03209.hp1
HG03516.hp1
others(2): Show 
HG03130.hp1
HG03209.hp1
HG03516.hp1
NA18522.hp1
NA19030.hp2
 intron_variant MODIFIER c.384+11904_384+1190
others(9): Show 
c.384+11904_384+11908delGTCCT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68262829
chrX:68263229 G
G
 A
A
 1 a0001c0001t0003g0122
a0001c0001t0003g0122
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.384+11509C>T
c.384+11509C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68263229
chrX:68263469 C
C
 A
A
 1 a0001c0001t0020g0099
a0001c0001t0020g0099
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.384+11269G>T
c.384+11269G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68263469
chrX:68263655 C
C
 A
A
 4 a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0006g0105
others(1): Show 
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0006g0105
a0001c0001t0006g0106
 4 HG02109.hp1
HG02647.hp1
HG02886.hp2
others(1): Show 
HG02109.hp1
HG02647.hp1
HG02886.hp2
NA19043.hp1
 intron_variant MODIFIER c.384+11083G>T
c.384+11083G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68263655
chrX:68263803 G
G
 A
A
 1 a0001c0001t0003g0122
a0001c0001t0003g0122
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.384+10935C>T
c.384+10935C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68263803
chrX:68264048 C
C
 G
G
 1 a0001c0001t0002g0006
a0001c0001t0002g0006
 1 HG02074.hp1
HG02074.hp1
 intron_variant MODIFIER c.384+10690G>C
c.384+10690G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68264048
chrX:68264136 C
C
 T
T
 1 a0001c0001t0003g0091
a0001c0001t0003g0091
 1 HG00099.hp2
HG00099.hp2
 intron_variant MODIFIER c.384+10602G>A
c.384+10602G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68264136
chrX:68264241 A
A
 C
C
 1 a0001c0001t0007g0032
a0001c0001t0007g0032
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.384+10497T>G
c.384+10497T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68264241
chrX:68264256 G
G
 A
A
 1 a0001c0001t0001g0154
a0001c0001t0001g0154
 1 NA19005.hp1
NA19005.hp1
 intron_variant MODIFIER c.384+10482C>T
c.384+10482C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68264256
chrX:68264527 T
T
 C
C
 1 a0001c0001t0018g0104
a0001c0001t0018g0104
 1 HG00280.hp1
HG00280.hp1
 intron_variant MODIFIER c.384+10211A>G
c.384+10211A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68264527
chrX:68264549 A
A
 G
G
 63 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0044
others(60): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0044
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0030g0155
 63 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(60): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG01891.hp1
HG01891.hp2
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03942.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp2
NA18944.hp1
NA18966.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.384+10189T>C
c.384+10189T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68264549
chrX:68264648 T
T
 A
A
 2 a0001c0001t0002g0133
a0001c0001t0005g0152
a0001c0001t0002g0133
a0001c0001t0005g0152
 2 HG01891.hp1
HG02630.hp2
HG01891.hp1
HG02630.hp2
 intron_variant MODIFIER c.384+10090A>T
c.384+10090A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68264648
chrX:68264679 T
T
 C
C
 1 a0001c0001t0004g0012
a0001c0001t0004g0012
 1 HG02922.hp2
HG02922.hp2
 intron_variant MODIFIER c.384+10059A>G
c.384+10059A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68264679
chrX:68264727 G
G
 C
C
 3 a0001c0001t0003g0151
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0003g0151
a0001c0001t0004g0094
a0001c0001t0004g0095
 3 HG03209.hp1
HG03516.hp1
NA18522.hp1
HG03209.hp1
HG03516.hp1
NA18522.hp1
 intron_variant MODIFIER c.384+10011C>G
c.384+10011C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68264727
chrX:68264736 T
T
 G
G
 3 a0001c0001t0004g0004
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0004g0004
a0001c0001t0006g0105
a0001c0001t0006g0106
 3 HG02109.hp1
HG02647.hp1
HG02886.hp2
HG02109.hp1
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.384+10002A>C
c.384+10002A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68264736
chrX:68264827 C
C
 A
A
 3 a0001c0001t0002g0116
a0001c0001t0005g0110
a0001c0001t0008g0112
a0001c0001t0002g0116
a0001c0001t0005g0110
a0001c0001t0008g0112
 3 HG02818.hp2
HG03540.hp2
HG03579.hp1
HG02818.hp2
HG03540.hp2
HG03579.hp1
 intron_variant MODIFIER c.384+9911G>T
c.384+9911G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68264827
chrX:68264954 C
C
 G
G
 1 a0001c0001t0005g0110
a0001c0001t0005g0110
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.384+9784G>C
c.384+9784G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68264954
chrX:68265104 C
C
 A
A
 1 a0001c0001t0001g0077
a0001c0001t0001g0077
 1 HG02071.hp1
HG02071.hp1
 intron_variant MODIFIER c.384+9634G>T
c.384+9634G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68265104
chrX:68265223 A
A
 G
G
 36 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0044
others(33): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0044
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0022g0103
 36 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(33): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG01081.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG02071.hp1
HG02109.hp2
HG02132.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG03942.hp1
NA18522.hp1
NA18612.hp1
NA18944.hp1
NA18966.hp1
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.384+9515T>C
c.384+9515T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68265223
chrX:68265310 A
A
 G
G
 5 a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0006g0105
others(2): Show 
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0020g0099
 5 HG00738.hp1
HG02109.hp1
HG02647.hp1
others(2): Show 
HG00738.hp1
HG02109.hp1
HG02647.hp1
HG02886.hp2
NA19043.hp1
 intron_variant MODIFIER c.384+9428T>C
c.384+9428T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68265310
chrX:68265402 G
G
 A
A
 6 a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
others(3): Show 
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0021g0150
 6 HG01081.hp2
HG01167.hp1
HG01169.hp1
others(3): Show 
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG02055.hp1
HG03471.hp1
NA18906.hp1
 intron_variant MODIFIER c.384+9336C>T
c.384+9336C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68265402
chrX:68265796 T
T
 C
C
 1 a0001c0001t0002g0134
a0001c0001t0002g0134
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.384+8942A>G
c.384+8942A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68265796
chrX:68266046 G
G
 A
A
 1 a0001c0001t0023g0037
a0001c0001t0023g0037
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.384+8692C>T
c.384+8692C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68266046
chrX:68266285 C
C
 T
T
 1 a0001c0001t0020g0099
a0001c0001t0020g0099
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.384+8453G>A
c.384+8453G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68266285
chrX:68266328 G
G
 A
A
 1 a0001c0001t0007g0022
a0001c0001t0007g0022
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.384+8410C>T
c.384+8410C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68266328
chrX:68266397 C
C
 A
A
 1 a0001c0001t0007g0032
a0001c0001t0007g0032
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.384+8341G>T
c.384+8341G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68266397
chrX:68266552 C
C
 T
T
 1 a0001c0001t0002g0019
a0001c0001t0002g0019
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.384+8186G>A
c.384+8186G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68266552
chrX:68266648 G
G
 A
A
 2 a0001c0001t0001g0068
a0001c0001t0001g0073
a0001c0001t0001g0068
a0001c0001t0001g0073
 2 NA19066.hp1
NA19068.hp1
NA19066.hp1
NA19068.hp1
 intron_variant MODIFIER c.384+8090C>T
c.384+8090C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68266648
chrX:68266701 C
C
 A
A
 1 a0001c0001t0004g0010
a0001c0001t0004g0010
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.384+8037G>T
c.384+8037G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68266701
chrX:68266833 A
A
 C
C
 1 a0001c0001t0020g0099
a0001c0001t0020g0099
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.384+7905T>G
c.384+7905T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68266833
chrX:68266942 T
T
 C
C
 1 a0001c0001t0020g0099
a0001c0001t0020g0099
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.384+7796A>G
c.384+7796A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68266942
chrX:68266945 T
T
 C
C
 3 a0001c0001t0004g0004
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0004g0004
a0001c0001t0006g0105
a0001c0001t0006g0106
 3 HG02109.hp1
HG02647.hp1
HG02886.hp2
HG02109.hp1
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.384+7793A>G
c.384+7793A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68266945
chrX:68267201 C
C
 T
T
 1 a0001c0001t0003g0122
a0001c0001t0003g0122
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.384+7537G>A
c.384+7537G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68267201
chrX:68267207 C
C
 T
T
 3 a0001c0001t0004g0004
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0004g0004
a0001c0001t0006g0105
a0001c0001t0006g0106
 3 HG02109.hp1
HG02647.hp1
HG02886.hp2
HG02109.hp1
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.384+7531G>A
c.384+7531G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68267207
chrX:68267326 A
A
 G
G
 11 a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0004g0026
others(8): Show 
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0020g0099
a0001c0001t0021g0150
 11 HG00738.hp1
HG01081.hp2
HG01167.hp1
others(8): Show 
HG00738.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG02055.hp1
HG02109.hp1
HG02647.hp1
HG02886.hp2
HG03471.hp1
NA18906.hp1
NA19043.hp1
 intron_variant MODIFIER c.384+7412T>C
c.384+7412T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68267326
chrX:68267542 A
A
 G
G
 1 a0001c0001t0003g0122
a0001c0001t0003g0122
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.384+7196T>C
c.384+7196T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68267542
chrX:68267676 G
G
 T
T
 4 a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0006g0105
others(1): Show 
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0006g0105
a0001c0001t0006g0106
 4 HG02109.hp1
HG02647.hp1
HG02886.hp2
others(1): Show 
HG02109.hp1
HG02647.hp1
HG02886.hp2
NA19043.hp1
 intron_variant MODIFIER c.384+7062C>A
c.384+7062C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68267676
chrX:68267702 C
C
 T
T
 4 a0001c0001t0001g0052
a0001c0001t0002g0123
a0001c0001t0002g0124
others(1): Show 
a0001c0001t0001g0052
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0144
 4 HG02027.hp1
HG02132.hp1
HG02135.hp1
others(1): Show 
HG02027.hp1
HG02132.hp1
HG02135.hp1
NA18612.hp1
 intron_variant MODIFIER c.384+7036G>A
c.384+7036G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68267702
chrX:68267760 A
A
 G
G
 1 a0001c0001t0001g0060
a0001c0001t0001g0060
 1 HG02015.hp1
HG02015.hp1
 intron_variant MODIFIER c.384+6978T>C
c.384+6978T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68267760
chrX:68267768 A
A
 G
G
 36 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0044
others(33): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0044
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0109
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0022g0103
 36 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(33): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG01081.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG02071.hp1
HG02109.hp2
HG02132.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG03942.hp1
NA18522.hp1
NA18612.hp1
NA18944.hp1
NA18966.hp1
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.384+6970T>C
c.384+6970T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68267768
chrX:68267942 G
G
 A
A
 1 a0001c0001t0020g0099
a0001c0001t0020g0099
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.384+6796C>T
c.384+6796C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68267942
chrX:68267954 G
G
 A
A
 1 a0001c0001t0002g0135
a0001c0001t0002g0135
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.384+6784C>T
c.384+6784C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68267954
chrX:68267992 T
T
 G
G
 3 a0001c0001t0004g0004
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0004g0004
a0001c0001t0006g0105
a0001c0001t0006g0106
 3 HG02109.hp1
HG02647.hp1
HG02886.hp2
HG02109.hp1
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.384+6746A>C
c.384+6746A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68267992
chrX:68268204 C
C
 A
A
 1 a0001c0001t0001g0140
a0001c0001t0001g0140
 1 NA18966.hp1
NA18966.hp1
 intron_variant MODIFIER c.384+6534G>T
c.384+6534G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68268204
chrX:68268473 G
G
 A
A
 5 a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0051
others(2): Show 
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0051
a0001c0001t0001g0066
a0001c0001t0001g0067
 5 HG00621.hp1
HG02738.hp1
NA18945.hp1
others(2): Show 
HG00621.hp1
HG02738.hp1
NA18945.hp1
NA18952.hp1
NA18990.hp1
 intron_variant MODIFIER c.384+6265C>T
c.384+6265C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68268473
chrX:68268559 C
C
 G
G
 3 a0001c0001t0002g0115
a0001c0001t0008g0096
a0001c0001t0019g0003
a0001c0001t0002g0115
a0001c0001t0008g0096
a0001c0001t0019g0003
 3 HG02145.hp1
HG02257.hp1
HG02809.hp2
HG02145.hp1
HG02257.hp1
HG02809.hp2
 intron_variant MODIFIER c.384+6179G>C
c.384+6179G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68268559
chrX:68268626 A
A
 C
C
 5 a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0006g0105
others(2): Show 
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0020g0099
 5 HG00738.hp1
HG02109.hp1
HG02647.hp1
others(2): Show 
HG00738.hp1
HG02109.hp1
HG02647.hp1
HG02886.hp2
NA19043.hp1
 intron_variant MODIFIER c.384+6112T>G
c.384+6112T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68268626
chrX:68268677 G
G
 C
C
 1 a0001c0001t0005g0107
a0001c0001t0005g0107
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.384+6061C>G
c.384+6061C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68268677
chrX:68268842 G
G
 A
A
 1 a0001c0001t0020g0099
a0001c0001t0020g0099
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.384+5896C>T
c.384+5896C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68268842
chrX:68269177 G
G
 C
C
 3 a0001c0001t0004g0004
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0004g0004
a0001c0001t0006g0105
a0001c0001t0006g0106
 3 HG02109.hp1
HG02647.hp1
HG02886.hp2
HG02109.hp1
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.384+5561C>G
c.384+5561C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68269177
chrX:68269270 A
A
 T
T
 5 a0001c0001t0003g0101
a0001c0001t0004g0010
a0001c0001t0004g0011
others(2): Show 
a0001c0001t0003g0101
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0003c0004t0014g0102
 5 HG02280.hp2
HG02451.hp2
HG02723.hp1
others(2): Show 
HG02280.hp2
HG02451.hp2
HG02723.hp1
HG02886.hp1
HG02922.hp2
 intron_variant MODIFIER c.384+5468T>A
c.384+5468T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68269270
chrX:68269274 C
C
 T
T
 6 a0001c0001t0001g0145
a0001c0001t0003g0101
a0001c0001t0004g0010
others(3): Show 
a0001c0001t0001g0145
a0001c0001t0003g0101
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0003c0004t0014g0102
 6 HG02280.hp2
HG02451.hp2
HG02723.hp1
others(3): Show 
HG02280.hp2
HG02451.hp2
HG02723.hp1
HG02886.hp1
HG02922.hp2
NA18944.hp1
 intron_variant MODIFIER c.384+5464G>A
c.384+5464G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68269274
chrX:68269490 C
C
 G
G
 3 a0001c0001t0002g0021
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0002g0021
a0001c0001t0007g0023
a0001c0001t0007g0033
 3 HG02257.hp2
HG02559.hp1
NA19030.hp1
HG02257.hp2
HG02559.hp1
NA19030.hp1
 intron_variant MODIFIER c.384+5248G>C
c.384+5248G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68269490
chrX:68269573 A
A
 T
T
 1 a0001c0001t0002g0127
a0001c0001t0002g0127
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.384+5165T>A
c.384+5165T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68269573
chrX:68269583 T
T
 G
G
 1 a0001c0001t0002g0127
a0001c0001t0002g0127
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.384+5155A>C
c.384+5155A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68269583
chrX:68269762 G
G
 T
T
 2 a0001c0001t0002g0116
a0001c0001t0008g0112
a0001c0001t0002g0116
a0001c0001t0008g0112
 2 HG02818.hp2
HG03579.hp1
HG02818.hp2
HG03579.hp1
 intron_variant MODIFIER c.384+4976C>A
c.384+4976C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68269762
chrX:68269996 C
C
 T
T
 1 a0001c0001t0001g0071
a0001c0001t0001g0071
 1 HG00642.hp1
HG00642.hp1
 intron_variant MODIFIER c.384+4742G>A
c.384+4742G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68269996
chrX:68270217 C
C
 G
G
 27 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(24): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0030g0155
 27 HG00738.hp1
HG01891.hp1
HG01891.hp2
others(24): Show 
HG00738.hp1
HG01891.hp1
HG01891.hp2
HG02109.hp1
HG02145.hp1
HG02257.hp1
HG02486.hp1
HG02572.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
NA19043.hp1
 intron_variant MODIFIER c.384+4521G>C
c.384+4521G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68270217
chrX:68270404 T
T
 C
C
 3 a0001c0001t0002g0115
a0001c0001t0008g0096
a0001c0001t0019g0003
a0001c0001t0002g0115
a0001c0001t0008g0096
a0001c0001t0019g0003
 3 HG02145.hp1
HG02257.hp1
HG02809.hp2
HG02145.hp1
HG02257.hp1
HG02809.hp2
 intron_variant MODIFIER c.384+4334A>G
c.384+4334A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68270404
chrX:68270590 G
G
 C
C
 22 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(19): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0019g0003
a0001c0001t0030g0155
 22 HG01891.hp1
HG01891.hp2
HG02145.hp1
others(19): Show 
HG01891.hp1
HG01891.hp2
HG02145.hp1
HG02257.hp1
HG02486.hp1
HG02572.hp1
HG02630.hp1
HG02630.hp2
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.384+4148C>G
c.384+4148C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68270590
chrX:68270601 A
A
 AG
AG
 1 a0001c0001t0001g0038
a0001c0001t0001g0038
 1 HG02602.hp1
HG02602.hp1
 intron_variant MODIFIER c.384+4136dupC
c.384+4136dupC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68270601
chrX:68270607 G
G
 A
A
 3 a0001c0001t0002g0021
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0002g0021
a0001c0001t0007g0023
a0001c0001t0007g0033
 3 HG02257.hp2
HG02559.hp1
NA19030.hp1
HG02257.hp2
HG02559.hp1
NA19030.hp1
 intron_variant MODIFIER c.384+4131C>T
c.384+4131C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68270607
chrX:68270745 T
T
 TA
TA
 7 a0001c0001t0002g0134
a0001c0001t0003g0091
a0001c0001t0003g0109
others(4): Show 
a0001c0001t0002g0134
a0001c0001t0003g0091
a0001c0001t0003g0109
a0001c0001t0003g0139
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
 7 HG00099.hp2
HG02258.hp1
HG02559.hp2
others(4): Show 
HG00099.hp2
HG02258.hp1
HG02559.hp2
HG02615.hp1
HG02717.hp1
HG02818.hp1
HG02976.hp1
 intron_variant MODIFIER c.384+3992dupT
c.384+3992dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68270745
chrX:68270891 T
T
 A
A
 5 a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0006g0105
others(2): Show 
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0020g0099
 5 HG00738.hp1
HG02109.hp1
HG02647.hp1
others(2): Show 
HG00738.hp1
HG02109.hp1
HG02647.hp1
HG02886.hp2
NA19043.hp1
 intron_variant MODIFIER c.384+3847A>T
c.384+3847A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68270891
chrX:68271062 A
A
 T
T
 1 a0001c0001t0020g0099
a0001c0001t0020g0099
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.384+3676T>A
c.384+3676T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68271062
chrX:68271089 T
T
 C
C
 1 a0001c0001t0001g0040
a0001c0001t0001g0040
 1 NA18965.hp1
NA18965.hp1
 intron_variant MODIFIER c.384+3649A>G
c.384+3649A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68271089
chrX:68271371 C
C
 CA
CA
 5 a0001c0001t0002g0115
a0001c0001t0003g0122
a0001c0001t0008g0096
others(2): Show 
a0001c0001t0002g0115
a0001c0001t0003g0122
a0001c0001t0008g0096
a0001c0001t0017g0036
a0001c0001t0019g0003
 5 HG01952.hp1
HG02145.hp1
HG02257.hp1
others(2): Show 
HG01952.hp1
HG02145.hp1
HG02257.hp1
HG02809.hp2
NA19043.hp1
 intron_variant MODIFIER c.384+3366dupT
c.384+3366dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68271371
chrX:68271371 CA
CA
 C
C
 1 a0001c0001t0006g0013
a0001c0001t0006g0013
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.384+3366delT
c.384+3366delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68271371
chrX:68271563 T
T
 A
A
 1 a0001c0001t0020g0099
a0001c0001t0020g0099
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.384+3175A>T
c.384+3175A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68271563
chrX:68271571 T
T
 A
A
 74 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0044
others(71): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0044
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0030g0155
a0003c0004t0014g0102
 74 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(71): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03942.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18966.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.384+3167A>T
c.384+3167A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68271571
chrX:68271727 G
G
 A
A
 24 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(21): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0007g0022
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0019g0003
a0001c0001t0030g0155
 24 HG01891.hp1
HG01891.hp2
HG02109.hp1
others(21): Show 
HG01891.hp1
HG01891.hp2
HG02109.hp1
HG02145.hp1
HG02257.hp1
HG02486.hp1
HG02572.hp1
HG02630.hp1
HG02630.hp2
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
NA19030.hp2
 intron_variant MODIFIER c.384+3011C>T
c.384+3011C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68271727
chrX:68271945 CA
CA
 C
C
 154 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(151): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 154 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(151): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.384+2792delT
c.384+2792delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68271945
chrX:68271971 A
A
 C
C
 154 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(151): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 154 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(151): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.384+2767T>G
c.384+2767T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68271971
chrX:68271988 A
A
 G
G
 1 a0001c0001t0006g0013
a0001c0001t0006g0013
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.384+2750T>C
c.384+2750T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68271988
chrX:68272005 CT
CT
 C
C
 154 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(151): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 154 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(151): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.384+2732delA
c.384+2732delA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68272005
chrX:68272020 T
T
 TC
TC
 154 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(151): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 154 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(151): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.384+2717dupG
c.384+2717dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68272020
chrX:68272131 G
G
 A
A
 1 a0001c0001t0001g0062
a0001c0001t0001g0062
 1 NA19009.hp1
NA19009.hp1
 intron_variant MODIFIER c.384+2607C>T
c.384+2607C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68272131
chrX:68272864 A
A
 G
G
 1 a0001c0001t0003g0122
a0001c0001t0003g0122
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.384+1874T>C
c.384+1874T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68272864
chrX:68273199 T
T
 TA
TA
 1 a0001c0001t0001g0075
a0001c0001t0001g0075
 1 NA18977.hp1
NA18977.hp1
 intron_variant MODIFIER c.384+1538dupT
c.384+1538dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68273199
chrX:68273578 T
T
 C
C
 4 a0001c0001t0002g0115
a0001c0001t0004g0004
a0001c0001t0008g0096
others(1): Show 
a0001c0001t0002g0115
a0001c0001t0004g0004
a0001c0001t0008g0096
a0001c0001t0019g0003
 4 HG02109.hp1
HG02145.hp1
HG02257.hp1
others(1): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp1
HG02809.hp2
 intron_variant MODIFIER c.384+1160A>G
c.384+1160A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68273578
chrX:68273684 T
T
 C
C
 17 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(14): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0007g0032
a0001c0001t0008g0112
a0001c0001t0030g0155
 17 HG01891.hp2
HG02486.hp1
HG02572.hp1
others(14): Show 
HG01891.hp2
HG02486.hp1
HG02572.hp1
HG02630.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.384+1054A>G
c.384+1054A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68273684
chrX:68273870 T
T
 A
A
 1 a0001c0001t0020g0099
a0001c0001t0020g0099
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.384+868A>T
c.384+868A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68273870
chrX:68273968 C
C
 T
T
 1 a0001c0001t0003g0122
a0001c0001t0003g0122
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.384+770G>A
c.384+770G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68273968
chrX:68274465 T
T
 C
C
 1 a0001c0001t0001g0009
a0001c0001t0001g0009
 1 NA18995.hp1
NA18995.hp1
 intron_variant MODIFIER c.384+273A>G
c.384+273A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 5/24 chrX 68274465
chrX:68275189 G
G
 A
A
 1 a0001c0001t0022g0103
a0001c0001t0022g0103
 1 HG01081.hp1
HG01081.hp1
 intron_variant MODIFIER c.313-380C>T
c.313-380C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 4/24 chrX 68275189
chrX:68275612 T
T
 C
C
 1 a0001c0001t0016g0119
a0001c0001t0016g0119
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.313-803A>G
c.313-803A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 4/24 chrX 68275612
chrX:68275615 A
A
 G
G
 15 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(12): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0008g0112
a0001c0001t0030g0155
 15 HG01891.hp2
HG02486.hp1
HG02572.hp1
others(12): Show 
HG01891.hp2
HG02486.hp1
HG02572.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.313-806T>C
c.313-806T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 4/24 chrX 68275615
chrX:68276160 C
C
 T
T
 2 a0001c0001t0001g0009
a0001c0001t0003g0091
a0001c0001t0001g0009
a0001c0001t0003g0091
 2 HG00099.hp2
NA18995.hp1
HG00099.hp2
NA18995.hp1
 intron_variant MODIFIER c.313-1351G>A
c.313-1351G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 4/24 chrX 68276160
chrX:68276482 C
C
 CA
CA
 1 a0001c0001t0001g0039
a0001c0001t0001g0039
 1 HG02698.hp1
HG02698.hp1
 intron_variant MODIFIER c.313-1674dupT
c.313-1674dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 4/24 chrX 68276482
chrX:68276605 A
A
 T
T
 3 a0001c0001t0002g0133
a0001c0001t0005g0152
a0001c0001t0007g0022
a0001c0001t0002g0133
a0001c0001t0005g0152
a0001c0001t0007g0022
 3 HG01891.hp1
HG02630.hp2
NA19030.hp2
HG01891.hp1
HG02630.hp2
NA19030.hp2
 intron_variant MODIFIER c.313-1796T>A
c.313-1796T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 4/24 chrX 68276605
chrX:68276628 C
C
 T
T
 3 a0001c0001t0002g0021
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0002g0021
a0001c0001t0007g0023
a0001c0001t0007g0033
 3 HG02257.hp2
HG02559.hp1
NA19030.hp1
HG02257.hp2
HG02559.hp1
NA19030.hp1
 intron_variant MODIFIER c.313-1819G>A
c.313-1819G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 4/24 chrX 68276628
chrX:68276646 C
C
 T
T
 1 a0001c0001t0003g0122
a0001c0001t0003g0122
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.313-1837G>A
c.313-1837G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 4/24 chrX 68276646
chrX:68277031 C
C
 T
T
 1 a0001c0001t0003g0101
a0001c0001t0003g0101
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.313-2222G>A
c.313-2222G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 4/24 chrX 68277031
chrX:68277039 T
T
 C
C
 2 a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0105
a0001c0001t0006g0106
 2 HG02647.hp1
HG02886.hp2
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.313-2230A>G
c.313-2230A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 4/24 chrX 68277039
chrX:68277787 T
T
 C
C
 3 a0001c0001t0003g0122
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0003g0122
a0001c0001t0006g0105
a0001c0001t0006g0106
 3 HG02647.hp1
HG02886.hp2
NA19043.hp1
HG02647.hp1
HG02886.hp2
NA19043.hp1
 intron_variant MODIFIER c.313-2978A>G
c.313-2978A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 4/24 chrX 68277787
chrX:68278081 C
C
 G
G
 4 a0001c0001t0003g0122
a0001c0001t0006g0105
a0001c0001t0006g0106
others(1): Show 
a0001c0001t0003g0122
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0020g0099
 4 HG00738.hp1
HG02647.hp1
HG02886.hp2
others(1): Show 
HG00738.hp1
HG02647.hp1
HG02886.hp2
NA19043.hp1
 intron_variant MODIFIER c.313-3272G>C
c.313-3272G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 4/24 chrX 68278081
chrX:68278122 T
T
 G
G
 3 a0001c0001t0003g0151
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0003g0151
a0001c0001t0004g0094
a0001c0001t0004g0095
 3 HG03209.hp1
HG03516.hp1
NA18522.hp1
HG03209.hp1
HG03516.hp1
NA18522.hp1
 intron_variant MODIFIER c.313-3313A>C
c.313-3313A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 4/24 chrX 68278122
chrX:68278248 C
C
 A
A
 1 a0001c0001t0020g0099
a0001c0001t0020g0099
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.313-3439G>T
c.313-3439G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 4/24 chrX 68278248
chrX:68278283 C
C
 T
T
 3 a0001c0001t0003g0122
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0003g0122
a0001c0001t0006g0105
a0001c0001t0006g0106
 3 HG02647.hp1
HG02886.hp2
NA19043.hp1
HG02647.hp1
HG02886.hp2
NA19043.hp1
 intron_variant MODIFIER c.313-3474G>A
c.313-3474G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 4/24 chrX 68278283
chrX:68278374 T
T
 C
C
 4 a0001c0001t0003g0122
a0001c0001t0006g0105
a0001c0001t0006g0106
others(1): Show 
a0001c0001t0003g0122
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0020g0099
 4 HG00738.hp1
HG02647.hp1
HG02886.hp2
others(1): Show 
HG00738.hp1
HG02647.hp1
HG02886.hp2
NA19043.hp1
 intron_variant MODIFIER c.313-3565A>G
c.313-3565A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 4/24 chrX 68278374
chrX:68278697 C
C
 T
T
 1 a0001c0001t0005g0137
a0001c0001t0005g0137
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.313-3888G>A
c.313-3888G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 4/24 chrX 68278697
chrX:68278835 G
G
 A
A
 1 a0001c0001t0001g0028
a0001c0001t0001g0028
 1 HG02083.hp1
HG02083.hp1
 intron_variant MODIFIER c.313-4026C>T
c.313-4026C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 4/24 chrX 68278835
chrX:68278902 A
A
 T
T
 1 a0001c0001t0002g0047
a0001c0001t0002g0047
 1 HG00673.hp1
HG00673.hp1
 intron_variant MODIFIER c.313-4093T>A
c.313-4093T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 4/24 chrX 68278902
chrX:68278905 A
A
 T
T
 1 a0001c0001t0001g0071
a0001c0001t0001g0071
 1 HG00642.hp1
HG00642.hp1
 intron_variant MODIFIER c.313-4096T>A
c.313-4096T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 4/24 chrX 68278905
chrX:68278915 A
A
 T
T
 3 a0001c0001t0003g0122
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0003g0122
a0001c0001t0006g0105
a0001c0001t0006g0106
 3 HG02647.hp1
HG02886.hp2
NA19043.hp1
HG02647.hp1
HG02886.hp2
NA19043.hp1
 intron_variant MODIFIER c.313-4106T>A
c.313-4106T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 4/24 chrX 68278915
chrX:68278977 G
G
 A
A
 6 a0001c0001t0002g0021
a0001c0001t0002g0133
a0001c0001t0005g0152
others(3): Show 
a0001c0001t0002g0021
a0001c0001t0002g0133
a0001c0001t0005g0152
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
 6 HG01891.hp1
HG02257.hp2
HG02559.hp1
others(3): Show 
HG01891.hp1
HG02257.hp2
HG02559.hp1
HG02630.hp2
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.312+4079C>T
c.312+4079C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 4/24 chrX 68278977
chrX:68279004 C
C
 A
A
 1 a0001c0001t0001g0066
a0001c0001t0001g0066
 1 NA18990.hp1
NA18990.hp1
 intron_variant MODIFIER c.312+4052G>T
c.312+4052G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 4/24 chrX 68279004
chrX:68279064 A
A
 C
C
 1 a0001c0001t0003g0122
a0001c0001t0003g0122
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.312+3992T>G
c.312+3992T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 4/24 chrX 68279064
chrX:68279097 C
C
 A
A
 1 a0001c0001t0011g0061
a0001c0001t0011g0061
 1 NA18982.hp1
NA18982.hp1
 intron_variant MODIFIER c.312+3959G>T
c.312+3959G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 4/24 chrX 68279097
chrX:68279101 C
C
 CT
CT
 60 a0001c0001t0001g0009
a0001c0001t0001g0016
a0001c0001t0001g0017
others(57): Show 
a0001c0001t0001g0009
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0029
a0001c0001t0001g0039
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0050
a0001c0001t0001g0053
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0075
a0001c0001t0001g0079
a0001c0001t0001g0082
a0001c0001t0001g0090
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0141
a0001c0001t0001g0147
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0057
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0124
a0001c0001t0002g0127
a0001c0001t0002g0131
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0109
a0001c0001t0003g0118
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0026
a0001c0001t0004g0095
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0008g0112
a0001c0001t0011g0061
a0001c0001t0019g0003
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0025g0087
a0001c0001t0027g0072
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 60 HG00099.hp1
HG00609.hp1
HG00735.hp1
others(57): Show 
HG00099.hp1
HG00609.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01358.hp1
HG01433.hp1
HG01934.hp1
HG02015.hp1
HG02074.hp1
HG02109.hp1
HG02300.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02698.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03471.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18955.hp1
NA18962.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18988.hp1
NA18995.hp1
NA19005.hp1
NA19009.hp1
NA19012.hp1
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.312+3954dupA
c.312+3954dupA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 4/24 chrX 68279101
chrX:68279101 C
C
 CTT
CTT
 24 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
others(21): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0049
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0002g0047
a0001c0001t0003g0035
a0001c0001t0003g0100
a0001c0001t0003g0111
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0117
a0001c0001t0006g0013
a0001c0001t0018g0104
 24 HG00140.hp1
HG00280.hp1
HG00673.hp1
others(21): Show 
HG00140.hp1
HG00280.hp1
HG00673.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01258.hp1
HG01261.hp1
HG01515.hp1
HG01891.hp2
HG01928.hp1
HG02055.hp1
HG02056.hp1
HG02129.hp1
HG02630.hp1
HG02976.hp2
NA18945.hp1
NA19004.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19085.hp1
NA19088.hp1
 intron_variant MODIFIER c.312+3953_312+3954d
others(4): Show 
c.312+3953_312+3954dupAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 4/24 chrX 68279101
chrX:68279101 C
C
 CTTT
CTTT
 16 a0001c0001t0001g0041
a0001c0001t0001g0051
a0001c0001t0001g0052
others(13): Show 
a0001c0001t0001g0041
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0066
a0001c0001t0001g0092
a0001c0001t0002g0021
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0135
a0001c0001t0003g0065
a0001c0001t0004g0094
a0001c0001t0005g0152
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0013g0042
a0001c0001t0017g0036
 16 HG00621.hp1
HG01346.hp2
HG01952.hp1
others(13): Show 
HG00621.hp1
HG01346.hp2
HG01952.hp1
HG02135.hp1
HG02257.hp2
HG02559.hp1
HG02615.hp2
HG02630.hp2
HG03209.hp1
NA18906.hp2
NA18960.hp1
NA18983.hp1
NA18986.hp1
NA18990.hp1
NA19007.hp1
NA19030.hp1
 intron_variant MODIFIER c.312+3952_312+3954d
others(5): Show 
c.312+3952_312+3954dupAAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 4/24 chrX 68279101
chrX:68279101 C
C
 CTTTT
CTTTT
 6 a0001c0001t0001g0027
a0001c0001t0001g0048
a0001c0001t0001g0067
others(3): Show 
a0001c0001t0001g0027
a0001c0001t0001g0048
a0001c0001t0001g0067
a0001c0001t0002g0123
a0001c0001t0007g0032
a0001c0001t0024g0007
 6 HG02027.hp1
HG02738.hp1
HG03130.hp1
others(3): Show 
HG02027.hp1
HG02738.hp1
HG03130.hp1
NA18952.hp1
NA18994.hp1
NA19000.hp1
 intron_variant MODIFIER c.312+3951_312+3954d
others(6): Show 
c.312+3951_312+3954dupAAAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 4/24 chrX 68279101
chrX:68279101 C
C
 CTTTTT
CTTTTT
 2 a0001c0001t0007g0022
a0001c0001t0008g0096
a0001c0001t0007g0022
a0001c0001t0008g0096
 2 HG02257.hp1
NA19030.hp2
HG02257.hp1
NA19030.hp2
 intron_variant MODIFIER c.312+3950_312+3954d
others(7): Show 
c.312+3950_312+3954dupAAAAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 4/24 chrX 68279101
chrX:68279101 C
C
 CTTTTTT
CTTTTTT
 2 a0001c0001t0001g0149
a0001c0001t0002g0133
a0001c0001t0001g0149
a0001c0001t0002g0133
 2 HG01891.hp1
NA20805.hp1
HG01891.hp1
NA20805.hp1
 intron_variant MODIFIER c.312+3949_312+3954d
others(8): Show 
c.312+3949_312+3954dupAAAAAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 4/24 chrX 68279101
chrX:68279101 CT
CT
 C
C
 12 a0001c0001t0001g0143
a0001c0001t0002g0019
a0001c0001t0002g0125
others(9): Show 
a0001c0001t0001g0143
a0001c0001t0002g0019
a0001c0001t0002g0125
a0001c0001t0002g0134
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0139
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0005g0138
a0001c0001t0009g0128
a0001c0001t0009g0129
 12 HG00099.hp2
HG00735.hp2
HG01243.hp1
others(9): Show 
HG00099.hp2
HG00735.hp2
HG01243.hp1
HG01255.hp1
HG02109.hp2
HG02258.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp2
HG02809.hp1
HG02976.hp1
HG03490.hp1
 intron_variant MODIFIER c.312+3954delA
c.312+3954delA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 4/24 chrX 68279101
chrX:68279101 CTT
CTT
 C
C
 3 a0001c0001t0003g0018
a0001c0001t0003g0101
a0001c0001t0003g0113
a0001c0001t0003g0018
a0001c0001t0003g0101
a0001c0001t0003g0113
 3 HG02280.hp1
HG02723.hp1
HG02723.hp2
HG02280.hp1
HG02723.hp1
HG02723.hp2
 intron_variant MODIFIER c.312+3953_312+3954d
others(4): Show 
c.312+3953_312+3954delAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 4/24 chrX 68279101
chrX:68279101 CTTTTTTT
others(11): Show 
CTTTTTTTTTTTTTTTTTT
 C
C
 4 a0001c0001t0001g0071
a0001c0001t0003g0122
a0001c0001t0006g0105
others(1): Show 
a0001c0001t0001g0071
a0001c0001t0003g0122
a0001c0001t0006g0105
a0001c0001t0006g0106
 4 HG00642.hp1
HG02647.hp1
HG02886.hp2
others(1): Show 
HG00642.hp1
HG02647.hp1
HG02886.hp2
NA19043.hp1
 intron_variant MODIFIER c.312+3937_312+3954d
others(20): Show 
c.312+3937_312+3954delAAAAAAAAAAAAAAAAAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 4/24 chrX 68279101
chrX:68279238 G
G
 A
A
 2 a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0105
a0001c0001t0006g0106
 2 HG02647.hp1
HG02886.hp2
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.312+3818C>T
c.312+3818C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 4/24 chrX 68279238
chrX:68279314 T
T
 C
C
 2 a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0105
a0001c0001t0006g0106
 2 HG02647.hp1
HG02886.hp2
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.312+3742A>G
c.312+3742A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 4/24 chrX 68279314
chrX:68279532 A
A
 G
G
 1 a0001c0001t0003g0113
a0001c0001t0003g0113
 1 HG02723.hp2
HG02723.hp2
 intron_variant MODIFIER c.312+3524T>C
c.312+3524T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 4/24 chrX 68279532
chrX:68279630 T
T
 C
C
 1 a0001c0001t0001g0008
a0001c0001t0001g0008
 1 HG01346.hp1
HG01346.hp1
 intron_variant MODIFIER c.312+3426A>G
c.312+3426A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 4/24 chrX 68279630
chrX:68279896 A
A
 G
G
 2 a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0105
a0001c0001t0006g0106
 2 HG02647.hp1
HG02886.hp2
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.312+3160T>C
c.312+3160T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 4/24 chrX 68279896
chrX:68280090 T
T
 C
C
 1 a0001c0001t0001g0060
a0001c0001t0001g0060
 1 HG02015.hp1
HG02015.hp1
 intron_variant MODIFIER c.312+2966A>G
c.312+2966A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 4/24 chrX 68280090
chrX:68280179 T
T
 A
A
 3 a0001c0001t0002g0021
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0002g0021
a0001c0001t0007g0023
a0001c0001t0007g0033
 3 HG02257.hp2
HG02559.hp1
NA19030.hp1
HG02257.hp2
HG02559.hp1
NA19030.hp1
 intron_variant MODIFIER c.312+2877A>T
c.312+2877A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 4/24 chrX 68280179
chrX:68280217 C
C
 T
T
 69 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(66): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0030g0155
 69 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(66): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18966.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.312+2839G>A
c.312+2839G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 4/24 chrX 68280217
chrX:68280249 C
C
 T
T
 1 a0001c0001t0003g0035
a0001c0001t0003g0035
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.312+2807G>A
c.312+2807G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 4/24 chrX 68280249
chrX:68280473 T
T
 A
A
 31 a0001c0001t0002g0014
a0001c0001t0002g0021
a0001c0001t0002g0108
others(28): Show 
a0001c0001t0002g0014
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0019g0003
a0001c0001t0030g0155
 31 HG01891.hp1
HG01891.hp2
HG02109.hp1
others(28): Show 
HG01891.hp1
HG01891.hp2
HG02109.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.312+2583A>T
c.312+2583A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 4/24 chrX 68280473
chrX:68281180 T
T
 C
C
 3 a0001c0001t0003g0122
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0003g0122
a0001c0001t0006g0105
a0001c0001t0006g0106
 3 HG02647.hp1
HG02886.hp2
NA19043.hp1
HG02647.hp1
HG02886.hp2
NA19043.hp1
 intron_variant MODIFIER c.312+1876A>G
c.312+1876A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 4/24 chrX 68281180
chrX:68281601 A
A
 G
G
 2 a0001c0001t0001g0050
a0001c0001t0001g0154
a0001c0001t0001g0050
a0001c0001t0001g0154
 2 HG00609.hp1
NA19005.hp1
HG00609.hp1
NA19005.hp1
 intron_variant MODIFIER c.312+1455T>C
c.312+1455T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 4/24 chrX 68281601
chrX:68281654 A
A
 T
T
 1 a0001c0001t0029g0031
a0001c0001t0029g0031
 1 NA18962.hp1
NA18962.hp1
 intron_variant MODIFIER c.312+1402T>A
c.312+1402T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 4/24 chrX 68281654
chrX:68281823 G
G
 A
A
 63 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(60): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0030g0155
 63 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(60): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG01891.hp1
HG01891.hp2
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp2
NA18944.hp1
NA18966.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.312+1233C>T
c.312+1233C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 4/24 chrX 68281823
chrX:68281879 G
G
 T
T
 1 a0001c0001t0003g0122
a0001c0001t0003g0122
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.312+1177C>A
c.312+1177C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 4/24 chrX 68281879
chrX:68282228 C
C
 T
T
 3 a0001c0001t0003g0122
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0003g0122
a0001c0001t0006g0105
a0001c0001t0006g0106
 3 HG02647.hp1
HG02886.hp2
NA19043.hp1
HG02647.hp1
HG02886.hp2
NA19043.hp1
 intron_variant MODIFIER c.312+828G>A
c.312+828G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 4/24 chrX 68282228
chrX:68282395 G
G
 A
A
 3 a0001c0001t0003g0122
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0003g0122
a0001c0001t0006g0105
a0001c0001t0006g0106
 3 HG02647.hp1
HG02886.hp2
NA19043.hp1
HG02647.hp1
HG02886.hp2
NA19043.hp1
 intron_variant MODIFIER c.312+661C>T
c.312+661C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 4/24 chrX 68282395
chrX:68282875 A
A
 G
G
 1 a0001c0001t0003g0113
a0001c0001t0003g0113
 1 HG02723.hp2
HG02723.hp2
 intron_variant MODIFIER c.312+181T>C
c.312+181T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 4/24 chrX 68282875
chrX:68283455 CT
CT
 C
C
 1 a0001c0001t0020g0099
a0001c0001t0020g0099
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.251-339delA
c.251-339delA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68283455
chrX:68283461 C
C
 T
T
 4 a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0009g0128
others(1): Show 
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
 4 HG01243.hp1
HG01255.hp1
HG02451.hp1
others(1): Show 
HG01243.hp1
HG01255.hp1
HG02451.hp1
HG03540.hp1
 intron_variant MODIFIER c.251-344G>A
c.251-344G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68283461
chrX:68284046 G
G
 A
A
 1 a0001c0001t0003g0122
a0001c0001t0003g0122
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.251-929C>T
c.251-929C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68284046
chrX:68284374 G
G
 T
T
 2 a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0105
a0001c0001t0006g0106
 2 HG02647.hp1
HG02886.hp2
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.251-1257C>A
c.251-1257C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68284374
chrX:68284423 T
T
 C
C
 2 a0001c0001t0003g0076
a0001c0001t0003g0100
a0001c0001t0003g0076
a0001c0001t0003g0100
 2 HG01106.hp1
HG01192.hp1
HG01106.hp1
HG01192.hp1
 intron_variant MODIFIER c.251-1306A>G
c.251-1306A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68284423
chrX:68284696 C
C
 T
T
 18 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(15): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0007g0032
a0001c0001t0008g0112
a0001c0001t0030g0155
 18 HG01891.hp2
HG02486.hp1
HG02572.hp1
others(15): Show 
HG01891.hp2
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.251-1579G>A
c.251-1579G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68284696
chrX:68284817 T
T
 G
G
 1 a0001c0001t0002g0133
a0001c0001t0002g0133
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.251-1700A>C
c.251-1700A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68284817
chrX:68285095 G
G
 A
A
 3 a0001c0001t0003g0122
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0003g0122
a0001c0001t0006g0105
a0001c0001t0006g0106
 3 HG02647.hp1
HG02886.hp2
NA19043.hp1
HG02647.hp1
HG02886.hp2
NA19043.hp1
 intron_variant MODIFIER c.251-1978C>T
c.251-1978C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68285095
chrX:68285276 C
C
 T
T
 6 a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
others(3): Show 
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0021g0150
 6 HG01081.hp2
HG01167.hp1
HG01169.hp1
others(3): Show 
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG02055.hp1
HG03471.hp1
NA18906.hp1
 intron_variant MODIFIER c.251-2159G>A
c.251-2159G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68285276
chrX:68285344 C
C
 T
T
 7 a0001c0001t0001g0071
a0001c0001t0002g0125
a0001c0001t0002g0127
others(4): Show 
a0001c0001t0001g0071
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0003g0113
a0001c0001t0004g0005
a0001c0001t0009g0128
a0001c0001t0009g0129
 7 HG00642.hp1
HG00735.hp2
HG01243.hp1
others(4): Show 
HG00642.hp1
HG00735.hp2
HG01243.hp1
HG01255.hp1
HG02451.hp1
HG02723.hp2
HG03540.hp1
 intron_variant MODIFIER c.251-2227G>A
c.251-2227G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68285344
chrX:68285675 G
G
 A
A
 1 a0001c0001t0004g0005
a0001c0001t0004g0005
 1 HG00735.hp2
HG00735.hp2
 intron_variant MODIFIER c.251-2558C>T
c.251-2558C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68285675
chrX:68285871 T
T
 TA
TA
 4 a0001c0001t0003g0122
a0001c0001t0006g0105
a0001c0001t0006g0106
others(1): Show 
a0001c0001t0003g0122
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0009g0129
 4 HG01243.hp1
HG02647.hp1
HG02886.hp2
others(1): Show 
HG01243.hp1
HG02647.hp1
HG02886.hp2
NA19043.hp1
 intron_variant MODIFIER c.251-2755dupT
c.251-2755dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68285871
chrX:68286035 G
G
 A
A
 3 a0001c0001t0003g0122
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0003g0122
a0001c0001t0006g0105
a0001c0001t0006g0106
 3 HG02647.hp1
HG02886.hp2
NA19043.hp1
HG02647.hp1
HG02886.hp2
NA19043.hp1
 intron_variant MODIFIER c.251-2918C>T
c.251-2918C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68286035
chrX:68286197 T
T
 G
G
 3 a0001c0001t0003g0122
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0003g0122
a0001c0001t0006g0105
a0001c0001t0006g0106
 3 HG02647.hp1
HG02886.hp2
NA19043.hp1
HG02647.hp1
HG02886.hp2
NA19043.hp1
 intron_variant MODIFIER c.251-3080A>C
c.251-3080A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68286197
chrX:68286778 G
G
 A
A
 2 a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0105
a0001c0001t0006g0106
 2 HG02647.hp1
HG02886.hp2
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.251-3661C>T
c.251-3661C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68286778
chrX:68286973 C
C
 G
G
 1 a0001c0001t0006g0013
a0001c0001t0006g0013
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.251-3856G>C
c.251-3856G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68286973
chrX:68286993 TGAGAGAG
others(7): Show 
TGAGAGAGAGAGAAA
 T
T
 1 a0001c0001t0001g0075
a0001c0001t0001g0075
 1 NA18977.hp1
NA18977.hp1
 intron_variant MODIFIER c.251-3890_251-3877d
others(16): Show 
c.251-3890_251-3877delTTTCTCTCTCTCTC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68286993
chrX:68287068 AAAGG
AAAGG
 A
A
 3 a0001c0001t0003g0122
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0003g0122
a0001c0001t0006g0105
a0001c0001t0006g0106
 3 HG02647.hp1
HG02886.hp2
NA19043.hp1
HG02647.hp1
HG02886.hp2
NA19043.hp1
 intron_variant MODIFIER c.251-3955_251-3952d
others(6): Show 
c.251-3955_251-3952delCCTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68287068
chrX:68287115 AAGAAAG
AAGAAAG
 A
A
 1 a0001c0001t0003g0122
a0001c0001t0003g0122
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.251-4004_251-3999d
others(8): Show 
c.251-4004_251-3999delCTTTCT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68287115
chrX:68287119 AAG
AAG
 A
A
 2 a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0105
a0001c0001t0006g0106
 2 HG02647.hp1
HG02886.hp2
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.251-4004_251-4003d
others(4): Show 
c.251-4004_251-4003delCT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68287119
chrX:68287124 A
A
 G
G
 1 a0001c0001t0005g0136
a0001c0001t0005g0136
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.251-4007T>C
c.251-4007T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68287124
chrX:68287156 G
G
 GGAAA
GGAAA
 17 a0001c0001t0001g0041
a0001c0001t0001g0051
a0001c0001t0001g0079
others(14): Show 
a0001c0001t0001g0041
a0001c0001t0001g0051
a0001c0001t0001g0079
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0141
a0001c0001t0003g0076
a0001c0001t0003g0100
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0015g0148
a0001c0001t0017g0036
a0001c0001t0024g0007
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
 17 HG00621.hp1
HG01074.hp1
HG01106.hp1
others(14): Show 
HG00621.hp1
HG01074.hp1
HG01106.hp1
HG01192.hp1
HG01358.hp1
HG01433.hp1
HG01943.hp1
HG01952.hp1
HG02280.hp2
HG02451.hp2
HG02886.hp1
HG02922.hp2
NA18960.hp1
NA19000.hp1
NA19007.hp1
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.251-4043_251-4040d
others(6): Show 
c.251-4043_251-4040dupTTTC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68287156
chrX:68287156 G
G
 GGAAAGAA
others(1): Show 
GGAAAGAAA
 8 a0001c0001t0001g0145
a0001c0001t0003g0018
a0001c0001t0003g0020
others(5): Show 
a0001c0001t0001g0145
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0101
a0001c0001t0003g0151
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0029g0031
 8 HG02280.hp1
HG02723.hp1
HG02809.hp1
others(5): Show 
HG02280.hp1
HG02723.hp1
HG02809.hp1
HG03209.hp1
HG03516.hp1
NA18522.hp1
NA18944.hp1
NA18962.hp1
 intron_variant MODIFIER c.251-4047_251-4040d
others(10): Show 
c.251-4047_251-4040dupTTTCTTTC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68287156
chrX:68287156 G
G
 GGAAAGAA
others(5): Show 
GGAAAGAAAGAAA
 7 a0001c0001t0001g0038
a0001c0001t0001g0143
a0001c0001t0001g0146
others(4): Show 
a0001c0001t0001g0038
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0002g0019
a0001c0001t0002g0134
a0001c0001t0016g0119
a0001c0001t0023g0037
 7 HG02109.hp2
HG02559.hp2
HG02602.hp1
others(4): Show 
HG02109.hp2
HG02559.hp2
HG02602.hp1
HG02683.hp1
HG02683.hp2
HG03490.hp1
HG04115.hp1
 intron_variant MODIFIER c.251-4051_251-4040d
others(14): Show 
c.251-4051_251-4040dupTTTCTTTCTTTC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68287156
chrX:68287156 G
G
 GGAAAGAA
others(9): Show 
GGAAAGAAAGAAAGAAA
 3 a0001c0001t0001g0140
a0001c0001t0002g0144
a0001c0001t0003g0091
a0001c0001t0001g0140
a0001c0001t0002g0144
a0001c0001t0003g0091
 3 HG00099.hp2
HG02132.hp1
NA18966.hp1
HG00099.hp2
HG02132.hp1
NA18966.hp1
 intron_variant MODIFIER c.251-4055_251-4040d
others(18): Show 
c.251-4055_251-4040dupTTTCTTTCTTTCTTTC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68287156
chrX:68287156 G
G
 GGAAAGAA
others(13): Show 
GGAAAGAAAGAAAGAAAGAAA
 5 a0001c0001t0001g0077
a0001c0001t0003g0113
a0001c0001t0004g0030
others(2): Show 
a0001c0001t0001g0077
a0001c0001t0003g0113
a0001c0001t0004g0030
a0001c0001t0005g0138
a0001c0001t0020g0099
 5 HG00738.hp1
HG01081.hp2
HG02071.hp1
others(2): Show 
HG00738.hp1
HG01081.hp2
HG02071.hp1
HG02723.hp2
HG02976.hp1
 intron_variant MODIFIER c.251-4059_251-4040d
others(22): Show 
c.251-4059_251-4040dupTTTCTTTCTTTCTTTCTTTC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68287156
chrX:68287156 G
G
 GGAAAGAA
others(17): Show 
GGAAAGAAAGAAAGAAAGAAAGAAA
 10 a0001c0001t0001g0071
a0001c0001t0002g0124
a0001c0001t0002g0126
others(7): Show 
a0001c0001t0001g0071
a0001c0001t0002g0124
a0001c0001t0002g0126
a0001c0001t0002g0133
a0001c0001t0003g0139
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0006g0013
 10 HG00642.hp1
HG01891.hp1
HG01891.hp2
others(7): Show 
HG00642.hp1
HG01891.hp1
HG01891.hp2
HG02258.hp1
HG02486.hp1
HG02630.hp1
HG02717.hp1
HG02818.hp1
HG03225.hp1
NA18612.hp1
 intron_variant MODIFIER c.251-4063_251-4040d
others(26): Show 
c.251-4063_251-4040dupTTTCTTTCTTTCTTTCTTTCTTTC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68287156
chrX:68287156 G
G
 GGAAAGAA
others(21): Show 
GGAAAGAAAGAAAGAAAGAAAGAAAGAAA
 10 a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
others(7): Show 
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0003g0111
a0001c0001t0005g0110
a0001c0001t0006g0105
a0001c0001t0007g0023
a0001c0001t0008g0112
a0001c0001t0019g0003
a0001c0001t0021g0150
 10 HG02559.hp1
HG02809.hp2
HG02818.hp2
others(7): Show 
HG02559.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02965.hp1
HG02976.hp2
HG03139.hp1
HG03471.hp1
HG03540.hp1
HG03540.hp2
 intron_variant MODIFIER c.251-4067_251-4040d
others(30): Show 
c.251-4067_251-4040dupTTTCTTTCTTTCTTTCTTTCTTTCTTTC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68287156
chrX:68287156 G
G
 GGAAAGAA
others(25): Show 
GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA
 12 a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0125
others(9): Show 
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0125
a0001c0001t0003g0118
a0001c0001t0004g0005
a0001c0001t0004g0034
a0001c0001t0005g0152
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0008g0096
a0001c0001t0009g0128
 12 HG00735.hp2
HG01167.hp1
HG01169.hp1
others(9): Show 
HG00735.hp2
HG01167.hp1
HG01169.hp1
HG01255.hp1
HG02055.hp1
HG02257.hp1
HG02451.hp1
HG02572.hp1
HG02630.hp2
HG02647.hp1
HG02922.hp1
HG03579.hp1
 intron_variant MODIFIER c.251-4071_251-4040d
others(34): Show 
c.251-4071_251-4040dupTTTCTTTCTTTCTTTCTTTCTTTCTTTC
TTTC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68287156
chrX:68287156 G
G
 GGAAAGAA
others(29): Show 
GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA
 10 a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0122
others(7): Show 
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0004g0026
a0001c0001t0007g0022
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0009g0129
a0001c0001t0030g0155
 10 HG01243.hp1
HG02109.hp1
HG02615.hp1
others(7): Show 
HG01243.hp1
HG02109.hp1
HG02615.hp1
HG02895.hp1
HG03130.hp1
NA18906.hp1
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.251-4040_251-4039i
others(38): Show 
c.251-4040_251-4039insTTTCTTTCTTTCTTTCTTTCTTTCTTTC
TTTCTTTC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68287156
chrX:68287156 G
G
 GGAAAGAA
others(33): Show 
GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA
 1 a0001c0001t0002g0108
a0001c0001t0002g0108
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.251-4040_251-4039i
others(42): Show 
c.251-4040_251-4039insTTTCTTTCTTTCTTTCTTTCTTTCTTTC
TTTCTTTCTTTC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68287156
chrX:68287156 G
G
 GGAAAGAA
others(37): Show 
GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA
 2 a0001c0001t0002g0014
a0001c0001t0002g0115
a0001c0001t0002g0014
a0001c0001t0002g0115
 2 HG02145.hp1
HG03098.hp1
HG02145.hp1
HG03098.hp1
 intron_variant MODIFIER c.251-4040_251-4039i
others(46): Show 
c.251-4040_251-4039insTTTCTTTCTTTCTTTCTTTCTTTCTTTC
TTTCTTTCTTTCTTTC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68287156
chrX:68287157 G
G
 GAAAGAAA
others(2): Show 
GAAAGAAAGA
 2 a0001c0001t0001g0008
a0001c0001t0022g0103
a0001c0001t0001g0008
a0001c0001t0022g0103
 2 HG01081.hp1
HG01346.hp1
HG01081.hp1
HG01346.hp1
 intron_variant MODIFIER c.251-4049_251-4041d
others(11): Show 
c.251-4049_251-4041dupTCTTTCTTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68287157
chrX:68287187 A
A
 AAGAAAGA
others(19): Show 
AAGAAAGAAAGAAAGAAAGAAAGAAAG
 1 a0001c0001t0002g0021
a0001c0001t0002g0021
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.251-4071_251-4070i
others(28): Show 
c.251-4071_251-4070insCTTTCTTTCTTTCTTTCTTTCTTTCT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68287187
chrX:68287222 A
A
 G
G
 1 a0001c0001t0020g0099
a0001c0001t0020g0099
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.251-4105T>C
c.251-4105T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68287222
chrX:68287337 T
T
 TA
TA
 7 a0001c0001t0002g0115
a0001c0001t0004g0026
a0001c0001t0004g0030
others(4): Show 
a0001c0001t0002g0115
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0005g0152
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0021g0150
 7 HG01081.hp2
HG01167.hp1
HG01169.hp1
others(4): Show 
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG02145.hp1
HG02630.hp2
HG03471.hp1
NA18906.hp1
 intron_variant MODIFIER c.251-4221dupT
c.251-4221dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68287337
chrX:68287337 TA
TA
 T
T
 23 a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0002g0014
others(20): Show 
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0032
a0001c0001t0008g0112
a0001c0001t0030g0155
 23 HG01891.hp2
HG02129.hp1
HG02135.hp1
others(20): Show 
HG01891.hp2
HG02129.hp1
HG02135.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
NA19043.hp1
 intron_variant MODIFIER c.251-4221delT
c.251-4221delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68287337
chrX:68287464 C
C
 CA
CA
 2 a0001c0001t0004g0034
a0002c0002t0003g0001
a0001c0001t0004g0034
a0002c0002t0003g0001
 2 HG02055.hp1
homoSapiens_chm13v2.hp1
HG02055.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.251-4348dupT
c.251-4348dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68287464
chrX:68287464 CA
CA
 C
C
 4 a0001c0001t0001g0039
a0001c0001t0003g0122
a0001c0001t0005g0152
others(1): Show 
a0001c0001t0001g0039
a0001c0001t0003g0122
a0001c0001t0005g0152
a0001c0001t0022g0103
 4 HG01081.hp1
HG02630.hp2
HG02698.hp1
others(1): Show 
HG01081.hp1
HG02630.hp2
HG02698.hp1
NA19043.hp1
 intron_variant MODIFIER c.251-4348delT
c.251-4348delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68287464
chrX:68287464 CAA
CAA
 C
C
 2 a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0105
a0001c0001t0006g0106
 2 HG02647.hp1
HG02886.hp2
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.251-4349_251-4348d
others(4): Show 
c.251-4349_251-4348delTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68287464
chrX:68287493 A
A
 T
T
 1 a0001c0001t0006g0013
a0001c0001t0006g0013
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.251-4376T>A
c.251-4376T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68287493
chrX:68287561 A
A
 C
C
 1 a0001c0001t0001g0080
a0001c0001t0001g0080
 1 HG03017.hp1
HG03017.hp1
 intron_variant MODIFIER c.251-4444T>G
c.251-4444T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68287561
chrX:68287598 A
A
 C
C
 1 a0001c0001t0003g0101
a0001c0001t0003g0101
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.251-4481T>G
c.251-4481T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68287598
chrX:68287670 C
C
 T
T
 5 a0001c0001t0003g0101
a0001c0001t0004g0010
a0001c0001t0004g0011
others(2): Show 
a0001c0001t0003g0101
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0003c0004t0014g0102
 5 HG02280.hp2
HG02451.hp2
HG02723.hp1
others(2): Show 
HG02280.hp2
HG02451.hp2
HG02723.hp1
HG02886.hp1
HG02922.hp2
 intron_variant MODIFIER c.251-4553G>A
c.251-4553G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68287670
chrX:68287908 T
T
 C
C
 74 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(71): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0030g0155
a0003c0004t0014g0102
 74 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(71): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18966.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.251-4791A>G
c.251-4791A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68287908
chrX:68288178 A
A
 G
G
 1 a0001c0001t0001g0060
a0001c0001t0001g0060
 1 HG02015.hp1
HG02015.hp1
 intron_variant MODIFIER c.251-5061T>C
c.251-5061T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68288178
chrX:68288213 G
G
 A
A
 1 a0001c0001t0030g0155
a0001c0001t0030g0155
 1 HG02895.hp1
HG02895.hp1
 intron_variant MODIFIER c.251-5096C>T
c.251-5096C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68288213
chrX:68288657 G
G
 A
A
 1 a0001c0001t0007g0032
a0001c0001t0007g0032
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.251-5540C>T
c.251-5540C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68288657
chrX:68289024 T
T
 C
C
 1 a0001c0001t0001g0009
a0001c0001t0001g0009
 1 NA18995.hp1
NA18995.hp1
 intron_variant MODIFIER c.251-5907A>G
c.251-5907A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68289024
chrX:68289676 A
A
 AC
AC
 1 a0001c0001t0003g0122
a0001c0001t0003g0122
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.251-6560dupG
c.251-6560dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68289676
chrX:68290043 CT
CT
 C
C
 1 a0001c0001t0001g0038
a0001c0001t0001g0038
 1 HG02602.hp1
HG02602.hp1
 intron_variant MODIFIER c.251-6927delA
c.251-6927delA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68290043
chrX:68290071 A
A
 G
G
 3 a0001c0001t0003g0122
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0003g0122
a0001c0001t0006g0105
a0001c0001t0006g0106
 3 HG02647.hp1
HG02886.hp2
NA19043.hp1
HG02647.hp1
HG02886.hp2
NA19043.hp1
 intron_variant MODIFIER c.251-6954T>C
c.251-6954T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68290071
chrX:68290287 C
C
 T
T
 3 a0001c0001t0003g0122
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0003g0122
a0001c0001t0006g0105
a0001c0001t0006g0106
 3 HG02647.hp1
HG02886.hp2
NA19043.hp1
HG02647.hp1
HG02886.hp2
NA19043.hp1
 intron_variant MODIFIER c.251-7170G>A
c.251-7170G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68290287
chrX:68290598 C
C
 CA
CA
 21 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(18): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0032
a0001c0001t0008g0112
a0001c0001t0030g0155
 21 HG01891.hp2
HG02486.hp1
HG02572.hp1
others(18): Show 
HG01891.hp2
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
NA19043.hp1
 intron_variant MODIFIER c.251-7482dupT
c.251-7482dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68290598
chrX:68290619 G
G
 A
A
 3 a0001c0001t0003g0122
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0003g0122
a0001c0001t0006g0105
a0001c0001t0006g0106
 3 HG02647.hp1
HG02886.hp2
NA19043.hp1
HG02647.hp1
HG02886.hp2
NA19043.hp1
 intron_variant MODIFIER c.251-7502C>T
c.251-7502C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68290619
chrX:68290932 A
A
 C
C
 3 a0001c0001t0003g0122
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0003g0122
a0001c0001t0006g0105
a0001c0001t0006g0106
 3 HG02647.hp1
HG02886.hp2
NA19043.hp1
HG02647.hp1
HG02886.hp2
NA19043.hp1
 intron_variant MODIFIER c.251-7815T>G
c.251-7815T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68290932
chrX:68290979 C
C
 T
T
 3 a0001c0001t0003g0122
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0003g0122
a0001c0001t0006g0105
a0001c0001t0006g0106
 3 HG02647.hp1
HG02886.hp2
NA19043.hp1
HG02647.hp1
HG02886.hp2
NA19043.hp1
 intron_variant MODIFIER c.251-7862G>A
c.251-7862G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68290979
chrX:68291033 A
A
 G
G
 1 a0001c0001t0001g0025
a0001c0001t0001g0025
 1 HG01515.hp1
HG01515.hp1
 intron_variant MODIFIER c.251-7916T>C
c.251-7916T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68291033
chrX:68291456 C
C
 T
T
 3 a0001c0001t0003g0122
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0003g0122
a0001c0001t0006g0105
a0001c0001t0006g0106
 3 HG02647.hp1
HG02886.hp2
NA19043.hp1
HG02647.hp1
HG02886.hp2
NA19043.hp1
 intron_variant MODIFIER c.250+7545G>A
c.250+7545G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68291456
chrX:68291548 T
T
 C
C
 1 a0001c0001t0001g0038
a0001c0001t0001g0038
 1 HG02602.hp1
HG02602.hp1
 intron_variant MODIFIER c.250+7453A>G
c.250+7453A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68291548
chrX:68291898 G
G
 A
A
 3 a0001c0001t0003g0122
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0003g0122
a0001c0001t0006g0105
a0001c0001t0006g0106
 3 HG02647.hp1
HG02886.hp2
NA19043.hp1
HG02647.hp1
HG02886.hp2
NA19043.hp1
 intron_variant MODIFIER c.250+7103C>T
c.250+7103C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68291898
chrX:68291992 C
C
 T
T
 1 a0001c0001t0020g0099
a0001c0001t0020g0099
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.250+7009G>A
c.250+7009G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68291992
chrX:68292143 T
T
 A
A
 1 a0001c0001t0001g0098
a0001c0001t0001g0098
 1 NA18955.hp1
NA18955.hp1
 intron_variant MODIFIER c.250+6858A>T
c.250+6858A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68292143
chrX:68292384 A
A
 G
G
 1 a0001c0001t0001g0039
a0001c0001t0001g0039
 1 HG02698.hp1
HG02698.hp1
 intron_variant MODIFIER c.250+6617T>C
c.250+6617T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68292384
chrX:68292447 T
T
 C
C
 1 a0001c0001t0003g0065
a0001c0001t0003g0065
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.250+6554A>G
c.250+6554A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68292447
chrX:68292881 G
G
 A
A
 4 a0001c0001t0002g0115
a0001c0001t0004g0004
a0001c0001t0008g0096
others(1): Show 
a0001c0001t0002g0115
a0001c0001t0004g0004
a0001c0001t0008g0096
a0001c0001t0019g0003
 4 HG02109.hp1
HG02145.hp1
HG02257.hp1
others(1): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp1
HG02809.hp2
 intron_variant MODIFIER c.250+6120C>T
c.250+6120C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68292881
chrX:68292969 T
T
 C
C
 74 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(71): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0030g0155
a0003c0004t0014g0102
 74 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(71): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18966.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.250+6032A>G
c.250+6032A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68292969
chrX:68293003 G
G
 A
A
 3 a0001c0001t0003g0122
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0003g0122
a0001c0001t0006g0105
a0001c0001t0006g0106
 3 HG02647.hp1
HG02886.hp2
NA19043.hp1
HG02647.hp1
HG02886.hp2
NA19043.hp1
 intron_variant MODIFIER c.250+5998C>T
c.250+5998C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68293003
chrX:68293158 G
G
 T
T
 18 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(15): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0007g0032
a0001c0001t0008g0112
a0001c0001t0030g0155
 18 HG01891.hp2
HG02486.hp1
HG02572.hp1
others(15): Show 
HG01891.hp2
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.250+5843C>A
c.250+5843C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68293158
chrX:68293232 T
T
 C
C
 3 a0001c0001t0003g0122
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0003g0122
a0001c0001t0006g0105
a0001c0001t0006g0106
 3 HG02647.hp1
HG02886.hp2
NA19043.hp1
HG02647.hp1
HG02886.hp2
NA19043.hp1
 intron_variant MODIFIER c.250+5769A>G
c.250+5769A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68293232
chrX:68293367 G
G
 A
A
 1 a0001c0001t0001g0145
a0001c0001t0001g0145
 1 NA18944.hp1
NA18944.hp1
 intron_variant MODIFIER c.250+5634C>T
c.250+5634C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68293367
chrX:68293381 A
A
 G
G
 74 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(71): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0030g0155
a0003c0004t0014g0102
 74 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(71): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18966.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.250+5620T>C
c.250+5620T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68293381
chrX:68293500 T
T
 A
A
 4 a0001c0001t0002g0115
a0001c0001t0004g0004
a0001c0001t0008g0096
others(1): Show 
a0001c0001t0002g0115
a0001c0001t0004g0004
a0001c0001t0008g0096
a0001c0001t0019g0003
 4 HG02109.hp1
HG02145.hp1
HG02257.hp1
others(1): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp1
HG02809.hp2
 intron_variant MODIFIER c.250+5501A>T
c.250+5501A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68293500
chrX:68294020 A
A
 G
G
 69 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(66): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0030g0155
 69 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(66): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18966.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.250+4981T>C
c.250+4981T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68294020
chrX:68294052 A
A
 G
G
 32 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(29): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0002g0019
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0023g0037
 32 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(29): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG02071.hp1
HG02109.hp2
HG02132.hp1
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02559.hp2
HG02602.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18944.hp1
NA18966.hp1
 intron_variant MODIFIER c.250+4949T>C
c.250+4949T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68294052
chrX:68294373 C
C
 T
T
 3 a0001c0001t0003g0122
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0003g0122
a0001c0001t0006g0105
a0001c0001t0006g0106
 3 HG02647.hp1
HG02886.hp2
NA19043.hp1
HG02647.hp1
HG02886.hp2
NA19043.hp1
 intron_variant MODIFIER c.250+4628G>A
c.250+4628G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68294373
chrX:68294473 C
C
 CA
CA
 31 a0001c0001t0001g0015
a0001c0001t0001g0038
a0001c0001t0001g0040
others(28): Show 
a0001c0001t0001g0015
a0001c0001t0001g0038
a0001c0001t0001g0040
a0001c0001t0001g0044
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0077
a0001c0001t0001g0088
a0001c0001t0001g0093
a0001c0001t0001g0132
a0001c0001t0001g0141
a0001c0001t0001g0147
a0001c0001t0002g0047
a0001c0001t0002g0124
a0001c0001t0002g0133
a0001c0001t0002g0144
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0005g0107
a0001c0001t0006g0013
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0017g0036
a0001c0001t0021g0150
a0001c0001t0024g0007
a0001c0001t0026g0056
a0001c0003t0010g0089
a0003c0004t0014g0102
 31 HG00140.hp1
HG00673.hp1
HG00735.hp1
others(28): Show 
HG00140.hp1
HG00673.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01192.hp1
HG01891.hp1
HG01934.hp1
HG01952.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02132.hp1
HG02486.hp1
HG02602.hp1
HG02615.hp2
HG02630.hp1
HG02886.hp1
HG03471.hp1
HG03688.hp1
HG03942.hp1
NA18612.hp1
NA18906.hp1
NA18965.hp1
NA19000.hp1
NA19004.hp1
NA19066.hp1
NA20905.hp1
 intron_variant MODIFIER c.250+4527dupT
c.250+4527dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68294473
chrX:68294473 C
C
 CAA
CAA
 5 a0001c0001t0002g0021
a0001c0001t0005g0152
a0001c0001t0007g0022
others(2): Show 
a0001c0001t0002g0021
a0001c0001t0005g0152
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
 5 HG02257.hp2
HG02559.hp1
HG02630.hp2
others(2): Show 
HG02257.hp2
HG02559.hp1
HG02630.hp2
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.250+4526_250+4527d
others(4): Show 
c.250+4526_250+4527dupTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68294473
chrX:68294473 CA
CA
 C
C
 5 a0001c0001t0001g0098
a0001c0001t0002g0115
a0001c0001t0003g0151
others(2): Show 
a0001c0001t0001g0098
a0001c0001t0002g0115
a0001c0001t0003g0151
a0001c0001t0004g0094
a0001c0001t0015g0148
 5 HG01943.hp1
HG02145.hp1
HG03209.hp1
others(2): Show 
HG01943.hp1
HG02145.hp1
HG03209.hp1
NA18522.hp1
NA18955.hp1
 intron_variant MODIFIER c.250+4527delT
c.250+4527delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68294473
chrX:68294473 CAA
CAA
 C
C
 3 a0001c0001t0004g0004
a0001c0001t0008g0096
a0001c0001t0019g0003
a0001c0001t0004g0004
a0001c0001t0008g0096
a0001c0001t0019g0003
 3 HG02109.hp1
HG02257.hp1
HG02809.hp2
HG02109.hp1
HG02257.hp1
HG02809.hp2
 intron_variant MODIFIER c.250+4526_250+4527d
others(4): Show 
c.250+4526_250+4527delTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68294473
chrX:68294473 CAAAAAAA
CAAAAAAA
 C
C
 1 a0001c0001t0007g0032
a0001c0001t0007g0032
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.250+4521_250+4527d
others(9): Show 
c.250+4521_250+4527delTTTTTTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68294473
chrX:68294473 CAAAAAAA
others(2): Show 
CAAAAAAAAA
 C
C
 1 a0001c0001t0003g0122
a0001c0001t0003g0122
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.250+4519_250+4527d
others(11): Show 
c.250+4519_250+4527delTTTTTTTTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68294473
chrX:68294501 A
A
 AAAAT
AAAAT
 1 a0001c0001t0002g0019
a0001c0001t0002g0019
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.250+4499_250+4500i
others(6): Show 
c.250+4499_250+4500insATTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68294501
chrX:68294501 A
A
 AAT
AAT
 2 a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0018
a0001c0001t0003g0020
 2 HG02280.hp1
HG02809.hp1
HG02280.hp1
HG02809.hp1
 intron_variant MODIFIER c.250+4499_250+4500i
others(4): Show 
c.250+4499_250+4500insAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68294501
chrX:68294525 A
A
 C
C
 2 a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0105
a0001c0001t0006g0106
 2 HG02647.hp1
HG02886.hp2
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.250+4476T>G
c.250+4476T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68294525
chrX:68294561 A
A
 G
G
 1 a0001c0001t0002g0126
a0001c0001t0002g0126
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.250+4440T>C
c.250+4440T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68294561
chrX:68294696 T
T
 C
C
 16 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(13): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0008g0112
a0001c0001t0030g0155
 16 HG01891.hp2
HG02486.hp1
HG02572.hp1
others(13): Show 
HG01891.hp2
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.250+4305A>G
c.250+4305A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68294696
chrX:68294776 T
T
 C
C
 1 a0001c0001t0003g0122
a0001c0001t0003g0122
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.250+4225A>G
c.250+4225A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68294776
chrX:68294919 C
C
 A
A
 1 a0001c0001t0001g0098
a0001c0001t0001g0098
 1 NA18955.hp1
NA18955.hp1
 intron_variant MODIFIER c.250+4082G>T
c.250+4082G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68294919
chrX:68295098 A
A
 G
G
 31 a0001c0001t0002g0014
a0001c0001t0002g0021
a0001c0001t0002g0108
others(28): Show 
a0001c0001t0002g0014
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0019g0003
a0001c0001t0030g0155
 31 HG01891.hp1
HG01891.hp2
HG02109.hp1
others(28): Show 
HG01891.hp1
HG01891.hp2
HG02109.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.250+3903T>C
c.250+3903T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68295098
chrX:68295621 C
C
 T
T
 3 a0001c0001t0003g0122
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0003g0122
a0001c0001t0006g0105
a0001c0001t0006g0106
 3 HG02647.hp1
HG02886.hp2
NA19043.hp1
HG02647.hp1
HG02886.hp2
NA19043.hp1
 intron_variant MODIFIER c.250+3380G>A
c.250+3380G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68295621
chrX:68295943 A
A
 AT
AT
 2 a0001c0001t0007g0022
a0001c0001t0007g0033
a0001c0001t0007g0022
a0001c0001t0007g0033
 2 NA19030.hp1
NA19030.hp2
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.250+3057dupA
c.250+3057dupA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68295943
chrX:68295945 T
T
 C
C
 1 a0001c0001t0003g0113
a0001c0001t0003g0113
 1 HG02723.hp2
HG02723.hp2
 intron_variant MODIFIER c.250+3056A>G
c.250+3056A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68295945
chrX:68296609 C
C
 T
T
 1 a0001c0001t0005g0136
a0001c0001t0005g0136
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.250+2392G>A
c.250+2392G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68296609
chrX:68296647 T
T
 TA
TA
 1 a0001c0001t0003g0035
a0001c0001t0003g0035
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.250+2353dupT
c.250+2353dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68296647
chrX:68296647 TA
TA
 T
T
 11 a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0092
others(8): Show 
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0092
a0001c0001t0001g0098
a0001c0001t0002g0054
a0001c0001t0002g0124
a0001c0001t0002g0144
a0001c0001t0003g0118
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0015g0148
 11 HG01943.hp1
HG02132.hp1
HG02572.hp1
others(8): Show 
HG01943.hp1
HG02132.hp1
HG02572.hp1
HG02647.hp1
HG02698.hp1
HG02886.hp2
NA18612.hp1
NA18955.hp1
NA18960.hp1
NA18965.hp1
NA18986.hp1
 intron_variant MODIFIER c.250+2353delT
c.250+2353delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68296647
chrX:68296647 TAA
TAA
 T
T
 16 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(13): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0007g0032
a0001c0001t0008g0112
a0001c0001t0030g0155
 16 HG01891.hp2
HG02486.hp1
HG02615.hp1
others(13): Show 
HG01891.hp2
HG02486.hp1
HG02615.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.250+2352_250+2353d
others(4): Show 
c.250+2352_250+2353delTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68296647
chrX:68296647 TAAA
TAAA
 T
T
 5 a0001c0001t0002g0115
a0001c0001t0003g0122
a0001c0001t0004g0004
others(2): Show 
a0001c0001t0002g0115
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0008g0096
a0001c0001t0019g0003
 5 HG02109.hp1
HG02145.hp1
HG02257.hp1
others(2): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp1
HG02809.hp2
NA19043.hp1
 intron_variant MODIFIER c.250+2351_250+2353d
others(5): Show 
c.250+2351_250+2353delTTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68296647
chrX:68296647 TAAAA
TAAAA
 T
T
 6 a0001c0001t0002g0021
a0001c0001t0002g0133
a0001c0001t0005g0152
others(3): Show 
a0001c0001t0002g0021
a0001c0001t0002g0133
a0001c0001t0005g0152
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
 6 HG01891.hp1
HG02257.hp2
HG02559.hp1
others(3): Show 
HG01891.hp1
HG02257.hp2
HG02559.hp1
HG02630.hp2
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.250+2350_250+2353d
others(6): Show 
c.250+2350_250+2353delTTTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68296647
chrX:68296682 T
T
 C
C
 30 a0001c0001t0002g0014
a0001c0001t0002g0021
a0001c0001t0002g0108
others(27): Show 
a0001c0001t0002g0014
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0019g0003
a0001c0001t0030g0155
 30 HG01891.hp1
HG01891.hp2
HG02109.hp1
others(27): Show 
HG01891.hp1
HG01891.hp2
HG02109.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp2
HG02647.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.250+2319A>G
c.250+2319A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68296682
chrX:68296700 C
C
 T
T
 17 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(14): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0007g0032
a0001c0001t0008g0112
a0001c0001t0030g0155
 17 HG01891.hp2
HG02486.hp1
HG02572.hp1
others(14): Show 
HG01891.hp2
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.250+2301G>A
c.250+2301G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68296700
chrX:68296794 G
G
 GTCTT
GTCTT
 1 a0001c0001t0001g0073
a0001c0001t0001g0073
 1 NA19068.hp1
NA19068.hp1
 intron_variant MODIFIER c.250+2203_250+2206d
others(6): Show 
c.250+2203_250+2206dupAAGA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68296794
chrX:68296811 T
T
 A
A
 2 a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0018
a0001c0001t0003g0020
 2 HG02280.hp1
HG02809.hp1
HG02280.hp1
HG02809.hp1
 intron_variant MODIFIER c.250+2190A>T
c.250+2190A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68296811
chrX:68297203 A
A
 T
T
 27 a0001c0001t0002g0014
a0001c0001t0002g0021
a0001c0001t0002g0108
others(24): Show 
a0001c0001t0002g0014
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0019g0003
a0001c0001t0030g0155
 27 HG01891.hp1
HG01891.hp2
HG02109.hp1
others(24): Show 
HG01891.hp1
HG01891.hp2
HG02109.hp1
HG02257.hp1
HG02257.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.250+1798T>A
c.250+1798T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68297203
chrX:68297933 G
G
 C
C
 69 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(66): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0030g0155
 69 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(66): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18966.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.250+1068C>G
c.250+1068C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68297933
chrX:68298131 T
T
 C
C
 1 a0001c0001t0004g0005
a0001c0001t0004g0005
 1 HG00735.hp2
HG00735.hp2
 intron_variant MODIFIER c.250+870A>G
c.250+870A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68298131
chrX:68298277 A
A
 C
C
 3 a0001c0001t0003g0151
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0003g0151
a0001c0001t0004g0094
a0001c0001t0004g0095
 3 HG03209.hp1
HG03516.hp1
NA18522.hp1
HG03209.hp1
HG03516.hp1
NA18522.hp1
 intron_variant MODIFIER c.250+724T>G
c.250+724T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68298277
chrX:68298413 C
C
 T
T
 1 a0001c0001t0013g0042
a0001c0001t0013g0042
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.250+588G>A
c.250+588G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 3/24 chrX 68298413
chrX:68299163 A
A
 G
G
 30 a0001c0001t0002g0014
a0001c0001t0002g0021
a0001c0001t0002g0108
others(27): Show 
a0001c0001t0002g0014
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0019g0003
a0001c0001t0030g0155
 30 HG01891.hp1
HG01891.hp2
HG02109.hp1
others(27): Show 
HG01891.hp1
HG01891.hp2
HG02109.hp1
HG02257.hp1
HG02257.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-67T>C
c.155-67T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68299163
chrX:68299650 C
C
 G
G
 30 a0001c0001t0002g0014
a0001c0001t0002g0021
a0001c0001t0002g0108
others(27): Show 
a0001c0001t0002g0014
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0019g0003
a0001c0001t0030g0155
 30 HG01891.hp1
HG01891.hp2
HG02109.hp1
others(27): Show 
HG01891.hp1
HG01891.hp2
HG02109.hp1
HG02257.hp1
HG02257.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-554G>C
c.155-554G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68299650
chrX:68299703 C
C
 T
T
 1 a0001c0001t0003g0122
a0001c0001t0003g0122
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.155-607G>A
c.155-607G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68299703
chrX:68299825 C
C
 A
A
 2 a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0105
a0001c0001t0006g0106
 2 HG02647.hp1
HG02886.hp2
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.155-729G>T
c.155-729G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68299825
chrX:68300154 CT
CT
 C
C
 1 a0001c0001t0004g0117
a0001c0001t0004g0117
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.155-1059delA
c.155-1059delA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68300154
chrX:68300167 C
C
 T
T
 1 a0001c0001t0001g0097
a0001c0001t0001g0097
 1 NA18970.hp1
NA18970.hp1
 intron_variant MODIFIER c.155-1071G>A
c.155-1071G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68300167
chrX:68300172 T
T
 C
C
 69 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(66): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0030g0155
 69 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(66): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18966.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-1076A>G
c.155-1076A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68300172
chrX:68300201 T
T
 C
C
 2 a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0105
a0001c0001t0006g0106
 2 HG02647.hp1
HG02886.hp2
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.155-1105A>G
c.155-1105A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68300201
chrX:68300345 T
T
 C
C
 1 a0001c0001t0005g0152
a0001c0001t0005g0152
 1 HG02630.hp2
HG02630.hp2
 intron_variant MODIFIER c.155-1249A>G
c.155-1249A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68300345
chrX:68301101 T
T
 C
C
 1 a0001c0001t0016g0119
a0001c0001t0016g0119
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.155-2005A>G
c.155-2005A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68301101
chrX:68301115 C
C
 CA
CA
 30 a0001c0001t0002g0014
a0001c0001t0002g0021
a0001c0001t0002g0108
others(27): Show 
a0001c0001t0002g0014
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0019g0003
a0001c0001t0030g0155
 30 HG01891.hp1
HG01891.hp2
HG02109.hp1
others(27): Show 
HG01891.hp1
HG01891.hp2
HG02109.hp1
HG02257.hp1
HG02257.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-2020dupT
c.155-2020dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68301115
chrX:68301445 C
C
 CA
CA
 17 a0001c0001t0001g0067
a0001c0001t0001g0070
a0001c0001t0001g0080
others(14): Show 
a0001c0001t0001g0067
a0001c0001t0001g0070
a0001c0001t0001g0080
a0001c0001t0001g0147
a0001c0001t0002g0057
a0001c0001t0002g0115
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0006g0120
a0001c0001t0021g0150
a0003c0004t0014g0102
 17 HG01081.hp2
HG01106.hp1
HG01169.hp1
others(14): Show 
HG01081.hp2
HG01106.hp1
HG01169.hp1
HG01934.hp1
HG02055.hp1
HG02145.hp1
HG02280.hp2
HG02451.hp2
HG02723.hp1
HG02886.hp1
HG02922.hp2
HG03017.hp1
HG03471.hp1
NA18906.hp1
NA18952.hp1
NA19012.hp1
NA19056.hp1
 intron_variant MODIFIER c.155-2350dupT
c.155-2350dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68301445
chrX:68301445 C
C
 CAA
CAA
 1 a0001c0001t0001g0048
a0001c0001t0001g0048
 1 HG02738.hp1
HG02738.hp1
 intron_variant MODIFIER c.155-2351_155-2350d
others(4): Show 
c.155-2351_155-2350dupTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68301445
chrX:68301445 CA
CA
 C
C
 50 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(47): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0007g0032
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0030g0155
 50 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(47): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG01891.hp2
HG02071.hp1
HG02109.hp2
HG02132.hp1
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp2
NA18944.hp1
NA18966.hp1
NA19043.hp1
 intron_variant MODIFIER c.155-2350delT
c.155-2350delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68301445
chrX:68301445 CAA
CAA
 C
C
 9 a0001c0001t0002g0021
a0001c0001t0002g0133
a0001c0001t0004g0004
others(6): Show 
a0001c0001t0002g0021
a0001c0001t0002g0133
a0001c0001t0004g0004
a0001c0001t0005g0152
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0019g0003
 9 HG01891.hp1
HG02109.hp1
HG02257.hp1
others(6): Show 
HG01891.hp1
HG02109.hp1
HG02257.hp1
HG02257.hp2
HG02559.hp1
HG02630.hp2
HG02809.hp2
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.155-2351_155-2350d
others(4): Show 
c.155-2351_155-2350delTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68301445
chrX:68301586 G
G
 A
A
 1 a0001c0001t0001g0080
a0001c0001t0001g0080
 1 HG03017.hp1
HG03017.hp1
 intron_variant MODIFIER c.155-2490C>T
c.155-2490C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68301586
chrX:68301685 C
C
 T
T
 1 a0001c0001t0028g0084
a0001c0001t0028g0084
 1 NA19070.hp1
NA19070.hp1
 intron_variant MODIFIER c.155-2589G>A
c.155-2589G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68301685
chrX:68302588 C
C
 CA
CA
 1 a0001c0001t0002g0115
a0001c0001t0002g0115
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.155-3493dupT
c.155-3493dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68302588
chrX:68302639 G
G
 A
A
 21 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(18): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0019g0003
a0001c0001t0030g0155
 21 HG01891.hp2
HG02109.hp1
HG02257.hp1
others(18): Show 
HG01891.hp2
HG02109.hp1
HG02257.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.155-3543C>T
c.155-3543C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68302639
chrX:68302759 A
A
 T
T
 1 a0001c0001t0006g0013
a0001c0001t0006g0013
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.155-3663T>A
c.155-3663T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68302759
chrX:68302765 T
T
 G
G
 1 a0001c0001t0001g0098
a0001c0001t0001g0098
 1 NA18955.hp1
NA18955.hp1
 intron_variant MODIFIER c.155-3669A>C
c.155-3669A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68302765
chrX:68302973 C
C
 CA
CA
 1 a0001c0001t0003g0122
a0001c0001t0003g0122
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.155-3878dupT
c.155-3878dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68302973
chrX:68303169 T
T
 A
A
 3 a0001c0001t0004g0026
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0004g0026
a0001c0001t0006g0120
a0001c0001t0006g0121
 3 HG01167.hp1
HG01169.hp1
NA18906.hp1
HG01167.hp1
HG01169.hp1
NA18906.hp1
 intron_variant MODIFIER c.155-4073A>T
c.155-4073A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68303169
chrX:68303580 G
G
 A
A
 3 a0001c0001t0002g0019
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0002g0019
a0001c0001t0003g0018
a0001c0001t0003g0020
 3 HG02109.hp2
HG02280.hp1
HG02809.hp1
HG02109.hp2
HG02280.hp1
HG02809.hp1
 intron_variant MODIFIER c.155-4484C>T
c.155-4484C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68303580
chrX:68303591 A
A
 T
T
 30 a0001c0001t0002g0014
a0001c0001t0002g0021
a0001c0001t0002g0108
others(27): Show 
a0001c0001t0002g0014
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0019g0003
a0001c0001t0030g0155
 30 HG01891.hp1
HG01891.hp2
HG02109.hp1
others(27): Show 
HG01891.hp1
HG01891.hp2
HG02109.hp1
HG02257.hp1
HG02257.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-4495T>A
c.155-4495T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68303591
chrX:68303635 T
T
 C
C
 30 a0001c0001t0002g0014
a0001c0001t0002g0021
a0001c0001t0002g0108
others(27): Show 
a0001c0001t0002g0014
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0019g0003
a0001c0001t0030g0155
 30 HG01891.hp1
HG01891.hp2
HG02109.hp1
others(27): Show 
HG01891.hp1
HG01891.hp2
HG02109.hp1
HG02257.hp1
HG02257.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-4539A>G
c.155-4539A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68303635
chrX:68303640 T
T
 C
C
 30 a0001c0001t0002g0014
a0001c0001t0002g0021
a0001c0001t0002g0108
others(27): Show 
a0001c0001t0002g0014
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0019g0003
a0001c0001t0030g0155
 30 HG01891.hp1
HG01891.hp2
HG02109.hp1
others(27): Show 
HG01891.hp1
HG01891.hp2
HG02109.hp1
HG02257.hp1
HG02257.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-4544A>G
c.155-4544A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68303640
chrX:68303648 CA
CA
 C
C
 16 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(13): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0008g0112
a0001c0001t0030g0155
 16 HG01891.hp2
HG02486.hp1
HG02572.hp1
others(13): Show 
HG01891.hp2
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.155-4553delT
c.155-4553delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68303648
chrX:68303668 A
A
 T
T
 1 a0001c0001t0001g0038
a0001c0001t0001g0038
 1 HG02602.hp1
HG02602.hp1
 intron_variant MODIFIER c.155-4572T>A
c.155-4572T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68303668
chrX:68303797 A
A
 G
G
 1 a0001c0001t0002g0047
a0001c0001t0002g0047
 1 HG00673.hp1
HG00673.hp1
 intron_variant MODIFIER c.155-4701T>C
c.155-4701T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68303797
chrX:68303984 C
C
 T
T
 30 a0001c0001t0002g0014
a0001c0001t0002g0021
a0001c0001t0002g0108
others(27): Show 
a0001c0001t0002g0014
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0019g0003
a0001c0001t0030g0155
 30 HG01891.hp1
HG01891.hp2
HG02109.hp1
others(27): Show 
HG01891.hp1
HG01891.hp2
HG02109.hp1
HG02257.hp1
HG02257.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-4888G>A
c.155-4888G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68303984
chrX:68303994 AG
AG
 A
A
 1 a0001c0001t0006g0013
a0001c0001t0006g0013
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.155-4899delC
c.155-4899delC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68303994
chrX:68304247 CA
CA
 C
C
 1 a0001c0001t0003g0122
a0001c0001t0003g0122
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.155-5152delT
c.155-5152delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68304247
chrX:68304248 AT
AT
 A
A
 2 a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0105
a0001c0001t0006g0106
 2 HG02647.hp1
HG02886.hp2
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.155-5153delA
c.155-5153delA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68304248
chrX:68304303 A
A
 C
C
 32 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(29): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0002g0019
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0023g0037
 32 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(29): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG02071.hp1
HG02109.hp2
HG02132.hp1
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02559.hp2
HG02602.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18944.hp1
NA18966.hp1
 intron_variant MODIFIER c.155-5207T>G
c.155-5207T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68304303
chrX:68304519 A
A
 G
G
 1 a0001c0001t0001g0145
a0001c0001t0001g0145
 1 NA18944.hp1
NA18944.hp1
 intron_variant MODIFIER c.155-5423T>C
c.155-5423T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68304519
chrX:68304695 G
G
 C
C
 1 a0001c0001t0003g0076
a0001c0001t0003g0076
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.155-5599C>G
c.155-5599C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68304695
chrX:68304710 G
G
 C
C
 30 a0001c0001t0002g0014
a0001c0001t0002g0021
a0001c0001t0002g0108
others(27): Show 
a0001c0001t0002g0014
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0019g0003
a0001c0001t0030g0155
 30 HG01891.hp1
HG01891.hp2
HG02109.hp1
others(27): Show 
HG01891.hp1
HG01891.hp2
HG02109.hp1
HG02257.hp1
HG02257.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-5614C>G
c.155-5614C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68304710
chrX:68304761 C
C
 T
T
 16 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(13): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0008g0112
a0001c0001t0030g0155
 16 HG01891.hp2
HG02486.hp1
HG02572.hp1
others(13): Show 
HG01891.hp2
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.155-5665G>A
c.155-5665G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68304761
chrX:68304861 A
A
 G
G
 1 a0001c0001t0001g0093
a0001c0001t0001g0093
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.155-5765T>C
c.155-5765T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68304861
chrX:68304871 A
A
 G
G
 2 a0001c0001t0001g0050
a0001c0001t0001g0154
a0001c0001t0001g0050
a0001c0001t0001g0154
 2 HG00609.hp1
NA19005.hp1
HG00609.hp1
NA19005.hp1
 intron_variant MODIFIER c.155-5775T>C
c.155-5775T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68304871
chrX:68306055 G
G
 A
A
 3 a0001c0001t0003g0122
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0003g0122
a0001c0001t0006g0105
a0001c0001t0006g0106
 3 HG02647.hp1
HG02886.hp2
NA19043.hp1
HG02647.hp1
HG02886.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-6959C>T
c.155-6959C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68306055
chrX:68306124 C
C
 T
T
 30 a0001c0001t0002g0014
a0001c0001t0002g0021
a0001c0001t0002g0108
others(27): Show 
a0001c0001t0002g0014
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0019g0003
a0001c0001t0030g0155
 30 HG01891.hp1
HG01891.hp2
HG02109.hp1
others(27): Show 
HG01891.hp1
HG01891.hp2
HG02109.hp1
HG02257.hp1
HG02257.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-7028G>A
c.155-7028G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68306124
chrX:68306437 C
C
 T
T
 30 a0001c0001t0002g0014
a0001c0001t0002g0021
a0001c0001t0002g0108
others(27): Show 
a0001c0001t0002g0014
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0019g0003
a0001c0001t0030g0155
 30 HG01891.hp1
HG01891.hp2
HG02109.hp1
others(27): Show 
HG01891.hp1
HG01891.hp2
HG02109.hp1
HG02257.hp1
HG02257.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-7341G>A
c.155-7341G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68306437
chrX:68306644 G
G
 C
C
 1 a0001c0001t0001g0052
a0001c0001t0001g0052
 1 HG02135.hp1
HG02135.hp1
 intron_variant MODIFIER c.155-7548C>G
c.155-7548C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68306644
chrX:68307090 T
T
 A
A
 1 a0001c0001t0020g0099
a0001c0001t0020g0099
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.155-7994A>T
c.155-7994A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68307090
chrX:68307285 A
A
 AAAT
AAAT
 12 a0001c0001t0002g0021
a0001c0001t0002g0133
a0001c0001t0003g0122
others(9): Show 
a0001c0001t0002g0021
a0001c0001t0002g0133
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0019g0003
 12 HG01891.hp1
HG02109.hp1
HG02257.hp1
others(9): Show 
HG01891.hp1
HG02109.hp1
HG02257.hp1
HG02257.hp2
HG02559.hp1
HG02630.hp2
HG02647.hp1
HG02809.hp2
HG02886.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-8190_155-8189i
others(5): Show 
c.155-8190_155-8189insATT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68307285
chrX:68307288 A
A
 AAAT
AAAT
 18 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(15): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0007g0032
a0001c0001t0008g0112
a0001c0001t0030g0155
 18 HG01891.hp2
HG02486.hp1
HG02572.hp1
others(15): Show 
HG01891.hp2
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.155-8195_155-8193d
others(5): Show 
c.155-8195_155-8193dupATT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68307288
chrX:68307288 A
A
 T
T
 12 a0001c0001t0002g0021
a0001c0001t0002g0133
a0001c0001t0003g0122
others(9): Show 
a0001c0001t0002g0021
a0001c0001t0002g0133
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0019g0003
 12 HG01891.hp1
HG02109.hp1
HG02257.hp1
others(9): Show 
HG01891.hp1
HG02109.hp1
HG02257.hp1
HG02257.hp2
HG02559.hp1
HG02630.hp2
HG02647.hp1
HG02809.hp2
HG02886.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-8192T>A
c.155-8192T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68307288
chrX:68307291 T
T
 A
A
 1 a0001c0001t0001g0051
a0001c0001t0001g0051
 1 HG00621.hp1
HG00621.hp1
 intron_variant MODIFIER c.155-8195A>T
c.155-8195A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68307291
chrX:68307443 G
G
 A
A
 2 a0001c0001t0008g0096
a0001c0001t0019g0003
a0001c0001t0008g0096
a0001c0001t0019g0003
 2 HG02257.hp1
HG02809.hp2
HG02257.hp1
HG02809.hp2
 intron_variant MODIFIER c.155-8347C>T
c.155-8347C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68307443
chrX:68307455 C
C
 CA
CA
 2 a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0105
a0001c0001t0006g0106
 2 HG02647.hp1
HG02886.hp2
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.155-8360dupT
c.155-8360dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68307455
chrX:68307455 C
C
 CAA
CAA
 26 a0001c0001t0002g0014
a0001c0001t0002g0021
a0001c0001t0002g0108
others(23): Show 
a0001c0001t0002g0014
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0019g0003
 26 HG01891.hp1
HG01891.hp2
HG02257.hp1
others(23): Show 
HG01891.hp1
HG01891.hp2
HG02257.hp1
HG02257.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02809.hp2
HG02818.hp2
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-8361_155-8360d
others(4): Show 
c.155-8361_155-8360dupTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68307455
chrX:68307455 C
C
 CAAA
CAAA
 2 a0001c0001t0004g0004
a0001c0001t0030g0155
a0001c0001t0004g0004
a0001c0001t0030g0155
 2 HG02109.hp1
HG02895.hp1
HG02109.hp1
HG02895.hp1
 intron_variant MODIFIER c.155-8360_155-8359i
others(5): Show 
c.155-8360_155-8359insTTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68307455
chrX:68307458 C
C
 A
A
 30 a0001c0001t0002g0014
a0001c0001t0002g0021
a0001c0001t0002g0108
others(27): Show 
a0001c0001t0002g0014
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0019g0003
a0001c0001t0030g0155
 30 HG01891.hp1
HG01891.hp2
HG02109.hp1
others(27): Show 
HG01891.hp1
HG01891.hp2
HG02109.hp1
HG02257.hp1
HG02257.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-8362G>T
c.155-8362G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68307458
chrX:68307458 C
C
 CA
CA
 1 a0001c0001t0023g0037
a0001c0001t0023g0037
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.155-8363dupT
c.155-8363dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68307458
chrX:68307461 A
A
 C
C
 2 a0001c0001t0001g0140
a0001c0001t0003g0081
a0001c0001t0001g0140
a0001c0001t0003g0081
 2 HG03492.hp1
NA18966.hp1
HG03492.hp1
NA18966.hp1
 intron_variant MODIFIER c.155-8365T>G
c.155-8365T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68307461
chrX:68307728 A
A
 T
T
 1 a0001c0003t0010g0089
a0001c0003t0010g0089
 1 HG03688.hp1
HG03688.hp1
 intron_variant MODIFIER c.155-8632T>A
c.155-8632T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68307728
chrX:68308000 C
C
 A
A
 30 a0001c0001t0002g0014
a0001c0001t0002g0021
a0001c0001t0002g0108
others(27): Show 
a0001c0001t0002g0014
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0019g0003
a0001c0001t0030g0155
 30 HG01891.hp1
HG01891.hp2
HG02109.hp1
others(27): Show 
HG01891.hp1
HG01891.hp2
HG02109.hp1
HG02257.hp1
HG02257.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-8904G>T
c.155-8904G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68308000
chrX:68308149 A
A
 G
G
 2 a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0105
a0001c0001t0006g0106
 2 HG02647.hp1
HG02886.hp2
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.155-9053T>C
c.155-9053T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68308149
chrX:68308601 A
A
 AAAAAG
AAAAAG
 25 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(22): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0091
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0019g0003
a0001c0001t0030g0155
 25 HG00099.hp2
HG01891.hp2
HG02109.hp1
others(22): Show 
HG00099.hp2
HG01891.hp2
HG02109.hp1
HG02257.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-9510_155-9506d
others(7): Show 
c.155-9510_155-9506dupCTTTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68308601
chrX:68308727 G
G
 A
A
 16 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(13): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0008g0112
a0001c0001t0030g0155
 16 HG01891.hp2
HG02486.hp1
HG02572.hp1
others(13): Show 
HG01891.hp2
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.155-9631C>T
c.155-9631C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68308727
chrX:68308760 C
C
 A
A
 1 a0001c0001t0002g0134
a0001c0001t0002g0134
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.155-9664G>T
c.155-9664G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68308760
chrX:68308967 TGTAG
TGTAG
 T
T
 1 a0001c0001t0004g0005
a0001c0001t0004g0005
 1 HG00735.hp2
HG00735.hp2
 intron_variant MODIFIER c.155-9875_155-9872d
others(6): Show 
c.155-9875_155-9872delCTAC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68308967
chrX:68309247 G
G
 T
T
 2 a0001c0001t0007g0022
a0001c0001t0007g0033
a0001c0001t0007g0022
a0001c0001t0007g0033
 2 NA19030.hp1
NA19030.hp2
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.155-10151C>A
c.155-10151C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68309247
chrX:68309419 G
G
 T
T
 24 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(21): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0019g0003
a0001c0001t0030g0155
 24 HG01891.hp2
HG02109.hp1
HG02257.hp1
others(21): Show 
HG01891.hp2
HG02109.hp1
HG02257.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-10323C>A
c.155-10323C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68309419
chrX:68309616 C
C
 T
T
 1 a0001c0001t0001g0066
a0001c0001t0001g0066
 1 NA18990.hp1
NA18990.hp1
 intron_variant MODIFIER c.155-10520G>A
c.155-10520G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68309616
chrX:68309873 G
G
 C
C
 21 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(18): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0019g0003
a0001c0001t0030g0155
 21 HG01891.hp2
HG02109.hp1
HG02257.hp1
others(18): Show 
HG01891.hp2
HG02109.hp1
HG02257.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.155-10777C>G
c.155-10777C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68309873
chrX:68309901 T
T
 A
A
 3 a0001c0001t0003g0151
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0003g0151
a0001c0001t0004g0094
a0001c0001t0004g0095
 3 HG03209.hp1
HG03516.hp1
NA18522.hp1
HG03209.hp1
HG03516.hp1
NA18522.hp1
 intron_variant MODIFIER c.155-10805A>T
c.155-10805A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68309901
chrX:68309932 C
C
 A
A
 24 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(21): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0019g0003
a0001c0001t0030g0155
 24 HG01891.hp2
HG02109.hp1
HG02257.hp1
others(21): Show 
HG01891.hp2
HG02109.hp1
HG02257.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-10836G>T
c.155-10836G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68309932
chrX:68309935 C
C
 A
A
 24 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(21): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0019g0003
a0001c0001t0030g0155
 24 HG01891.hp2
HG02109.hp1
HG02257.hp1
others(21): Show 
HG01891.hp2
HG02109.hp1
HG02257.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-10839G>T
c.155-10839G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68309935
chrX:68309981 T
T
 C
C
 24 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(21): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0019g0003
a0001c0001t0030g0155
 24 HG01891.hp2
HG02109.hp1
HG02257.hp1
others(21): Show 
HG01891.hp2
HG02109.hp1
HG02257.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-10885A>G
c.155-10885A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68309981
chrX:68310171 A
A
 C
C
 1 a0001c0001t0005g0152
a0001c0001t0005g0152
 1 HG02630.hp2
HG02630.hp2
 intron_variant MODIFIER c.155-11075T>G
c.155-11075T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68310171
chrX:68310174 A
A
 G
G
 24 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(21): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0019g0003
a0001c0001t0030g0155
 24 HG01891.hp2
HG02109.hp1
HG02257.hp1
others(21): Show 
HG01891.hp2
HG02109.hp1
HG02257.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-11078T>C
c.155-11078T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68310174
chrX:68310381 A
A
 T
T
 20 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(17): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0030g0155
 20 HG01891.hp2
HG02109.hp1
HG02257.hp1
others(17): Show 
HG01891.hp2
HG02109.hp1
HG02257.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.155-11285T>A
c.155-11285T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68310381
chrX:68310418 C
C
 T
T
 1 a0001c0001t0002g0123
a0001c0001t0002g0123
 1 HG02027.hp1
HG02027.hp1
 intron_variant MODIFIER c.155-11322G>A
c.155-11322G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68310418
chrX:68310436 G
G
 GA
GA
 1 a0001c0001t0001g0093
a0001c0001t0001g0093
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.155-11341dupT
c.155-11341dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68310436
chrX:68310436 GA
GA
 G
G
 24 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(21): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0019g0003
a0001c0001t0030g0155
 24 HG01891.hp2
HG02109.hp1
HG02257.hp1
others(21): Show 
HG01891.hp2
HG02109.hp1
HG02257.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-11341delT
c.155-11341delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68310436
chrX:68311097 C
C
 CA
CA
 21 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(18): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0019g0003
a0001c0001t0030g0155
 21 HG01891.hp2
HG02109.hp1
HG02257.hp1
others(18): Show 
HG01891.hp2
HG02109.hp1
HG02257.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.155-12002dupT
c.155-12002dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68311097
chrX:68311167 A
A
 G
G
 24 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(21): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0019g0003
a0001c0001t0030g0155
 24 HG01891.hp2
HG02109.hp1
HG02257.hp1
others(21): Show 
HG01891.hp2
HG02109.hp1
HG02257.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-12071T>C
c.155-12071T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68311167
chrX:68311560 G
G
 A
A
 1 a0001c0001t0003g0122
a0001c0001t0003g0122
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.155-12464C>T
c.155-12464C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68311560
chrX:68311563 A
A
 G
G
 24 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(21): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0019g0003
a0001c0001t0030g0155
 24 HG01891.hp2
HG02109.hp1
HG02257.hp1
others(21): Show 
HG01891.hp2
HG02109.hp1
HG02257.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-12467T>C
c.155-12467T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68311563
chrX:68311598 C
C
 A
A
 24 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(21): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0019g0003
a0001c0001t0030g0155
 24 HG01891.hp2
HG02109.hp1
HG02257.hp1
others(21): Show 
HG01891.hp2
HG02109.hp1
HG02257.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-12502G>T
c.155-12502G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68311598
chrX:68312100 A
A
 AT
AT
 21 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0052
others(18): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0052
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0035
a0001c0001t0003g0091
a0001c0001t0003g0139
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0016g0119
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0028g0084
 21 HG00099.hp2
HG01081.hp1
HG01099.hp1
others(18): Show 
HG00099.hp2
HG01081.hp1
HG01099.hp1
HG01346.hp1
HG02071.hp1
HG02132.hp1
HG02135.hp1
HG02258.hp1
HG02559.hp2
HG02602.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02818.hp1
HG02976.hp1
HG03490.hp1
HG04115.hp1
NA18612.hp1
NA18944.hp1
NA18966.hp1
NA19070.hp1
 intron_variant MODIFIER c.155-13005dupA
c.155-13005dupA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68312100
chrX:68312100 AT
AT
 A
A
 28 a0001c0001t0001g0025
a0001c0001t0001g0064
a0001c0001t0001g0093
others(25): Show 
a0001c0001t0001g0025
a0001c0001t0001g0064
a0001c0001t0001g0093
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0081
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0011g0061
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0030g0155
 28 HG00280.hp1
HG00735.hp1
HG01515.hp1
others(25): Show 
HG00280.hp1
HG00735.hp1
HG01515.hp1
HG01891.hp2
HG02109.hp1
HG02257.hp1
HG02300.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03492.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
NA18982.hp1
NA19043.hp1
 intron_variant MODIFIER c.155-13005delA
c.155-13005delA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68312100
chrX:68312100 ATT
ATT
 A
A
 4 a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
others(1): Show 
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0003c0004t0014g0102
 4 HG02280.hp2
HG02451.hp2
HG02886.hp1
others(1): Show 
HG02280.hp2
HG02451.hp2
HG02886.hp1
HG02922.hp2
 intron_variant MODIFIER c.155-13006_155-1300
others(6): Show 
c.155-13006_155-13005delAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68312100
chrX:68312100 ATTT
ATTT
 A
A
 1 a0001c0001t0003g0101
a0001c0001t0003g0101
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.155-13007_155-1300
others(7): Show 
c.155-13007_155-13005delAAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68312100
chrX:68312248 G
G
 T
T
 1 a0001c0001t0006g0013
a0001c0001t0006g0013
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.155-13152C>A
c.155-13152C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68312248
chrX:68312252 A
A
 AT
AT
 11 a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0062
others(8): Show 
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0062
a0001c0001t0001g0070
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0002g0006
a0001c0001t0002g0116
a0001c0001t0004g0004
a0001c0001t0021g0150
a0001c0003t0010g0089
 11 HG00609.hp1
HG01433.hp1
HG02056.hp1
others(8): Show 
HG00609.hp1
HG01433.hp1
HG02056.hp1
HG02074.hp1
HG02109.hp1
HG02135.hp1
HG03471.hp1
HG03579.hp1
HG03688.hp1
NA19009.hp1
NA19056.hp1
 intron_variant MODIFIER c.155-13157dupA
c.155-13157dupA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68312252
chrX:68312252 AT
AT
 A
A
 31 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(28): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0002g0115
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0030
a0001c0001t0004g0094
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0007g0022
a0001c0001t0007g0033
a0001c0001t0009g0128
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0023g0037
 31 HG00099.hp2
HG00642.hp1
HG00738.hp1
others(28): Show 
HG00099.hp2
HG00642.hp1
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01255.hp1
HG01346.hp1
HG01891.hp1
HG02071.hp1
HG02145.hp1
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03540.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18944.hp1
NA18966.hp1
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.155-13157delA
c.155-13157delA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68312252
chrX:68312252 ATTTTTTT
ATTTTTTT
 A
A
 1 a0001c0001t0004g0005
a0001c0001t0004g0005
 1 HG00735.hp2
HG00735.hp2
 intron_variant MODIFIER c.155-13163_155-1315
others(11): Show 
c.155-13163_155-13157delAAAAAAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68312252
chrX:68312602 C
C
 T
T
 21 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(18): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0019g0003
a0001c0001t0030g0155
 21 HG01891.hp2
HG02109.hp1
HG02257.hp1
others(18): Show 
HG01891.hp2
HG02109.hp1
HG02257.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.155-13506G>A
c.155-13506G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68312602
chrX:68312609 A
A
 G
G
 1 a0001c0001t0003g0151
a0001c0001t0003g0151
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.155-13513T>C
c.155-13513T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68312609
chrX:68312615 T
T
 C
C
 1 a0001c0001t0018g0104
a0001c0001t0018g0104
 1 HG00280.hp1
HG00280.hp1
 intron_variant MODIFIER c.155-13519A>G
c.155-13519A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68312615
chrX:68312833 C
C
 T
T
 1 a0001c0001t0001g0060
a0001c0001t0001g0060
 1 HG02015.hp1
HG02015.hp1
 intron_variant MODIFIER c.155-13737G>A
c.155-13737G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68312833
chrX:68312834 G
G
 A
A
 38 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(35): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0023g0037
 38 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(35): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG01891.hp1
HG02071.hp1
HG02109.hp2
HG02132.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18944.hp1
NA18966.hp1
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.155-13738C>T
c.155-13738C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68312834
chrX:68312846 T
T
 C
C
 24 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(21): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0019g0003
a0001c0001t0030g0155
 24 HG01891.hp2
HG02109.hp1
HG02257.hp1
others(21): Show 
HG01891.hp2
HG02109.hp1
HG02257.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-13750A>G
c.155-13750A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68312846
chrX:68312987 C
C
 T
T
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.155-13891G>A
c.155-13891G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68312987
chrX:68313848 A
A
 G
G
 3 a0001c0001t0004g0004
a0001c0001t0008g0096
a0001c0001t0019g0003
a0001c0001t0004g0004
a0001c0001t0008g0096
a0001c0001t0019g0003
 3 HG02109.hp1
HG02257.hp1
HG02809.hp2
HG02109.hp1
HG02257.hp1
HG02809.hp2
 intron_variant MODIFIER c.155-14752T>C
c.155-14752T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68313848
chrX:68313879 C
C
 T
T
 1 a0001c0001t0001g0141
a0001c0001t0001g0141
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.155-14783G>A
c.155-14783G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68313879
chrX:68313884 C
C
 T
T
 21 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(18): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0019g0003
a0001c0001t0030g0155
 21 HG01891.hp2
HG02109.hp1
HG02257.hp1
others(18): Show 
HG01891.hp2
HG02109.hp1
HG02257.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.155-14788G>A
c.155-14788G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68313884
chrX:68313946 A
A
 G
G
 1 a0001c0001t0001g0066
a0001c0001t0001g0066
 1 NA18990.hp1
NA18990.hp1
 intron_variant MODIFIER c.155-14850T>C
c.155-14850T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68313946
chrX:68313986 C
C
 G
G
 1 a0001c0001t0020g0099
a0001c0001t0020g0099
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.155-14890G>C
c.155-14890G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68313986
chrX:68314007 ATTTTTTT
others(34): Show 
ATTTTTTTAAAAAGAAATAAATGAGAGGACATTACTACCAAT
 A
A
 1 a0001c0001t0003g0122
a0001c0001t0003g0122
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.155-14952_155-1491
others(45): Show 
c.155-14952_155-14912delATTGGTAGTAATGTCCTCTCATTTAT
TTCTTTTTAAAAAAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68314007
chrX:68314292 C
C
 T
T
 1 a0001c0001t0002g0123
a0001c0001t0002g0123
 1 HG02027.hp1
HG02027.hp1
 intron_variant MODIFIER c.155-15196G>A
c.155-15196G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68314292
chrX:68314340 G
G
 A
A
 1 a0001c0001t0027g0072
a0001c0001t0027g0072
 1 HG00099.hp1
HG00099.hp1
 intron_variant MODIFIER c.155-15244C>T
c.155-15244C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68314340
chrX:68314521 C
C
 CA
CA
 2 a0001c0001t0001g0048
a0001c0001t0030g0155
a0001c0001t0001g0048
a0001c0001t0030g0155
 2 HG02738.hp1
HG02895.hp1
HG02738.hp1
HG02895.hp1
 intron_variant MODIFIER c.155-15426dupT
c.155-15426dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68314521
chrX:68314684 C
C
 CA
CA
 24 a0001c0001t0001g0008
a0001c0001t0001g0029
a0001c0001t0001g0038
others(21): Show 
a0001c0001t0001g0008
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0002g0021
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0139
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0016g0119
a0001c0001t0022g0103
a0001c0001t0023g0037
 24 HG00099.hp2
HG01081.hp1
HG01346.hp1
others(21): Show 
HG00099.hp2
HG01081.hp1
HG01346.hp1
HG02071.hp1
HG02132.hp1
HG02257.hp2
HG02258.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02976.hp1
HG03490.hp1
HG04115.hp1
NA18612.hp1
NA18944.hp1
NA18966.hp1
NA18988.hp1
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.155-15589dupT
c.155-15589dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68314684
chrX:68314684 C
C
 CAA
CAA
 1 a0001c0001t0002g0133
a0001c0001t0002g0133
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.155-15590_155-1558
others(6): Show 
c.155-15590_155-15589dupTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68314684
chrX:68314889 G
G
 A
A
 33 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(30): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0002g0019
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0023g0037
 33 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(30): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG02071.hp1
HG02109.hp2
HG02132.hp1
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18944.hp1
NA18966.hp1
 intron_variant MODIFIER c.155-15793C>T
c.155-15793C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68314889
chrX:68314985 C
C
 CA
CA
 12 a0001c0001t0001g0029
a0001c0001t0002g0021
a0001c0001t0002g0054
others(9): Show 
a0001c0001t0001g0029
a0001c0001t0002g0021
a0001c0001t0002g0054
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0127
a0001c0001t0002g0133
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0015g0148
a0002c0002t0001g0002
 12 HG01358.hp1
HG01891.hp1
HG01943.hp1
others(9): Show 
HG01358.hp1
HG01891.hp1
HG01943.hp1
HG02145.hp1
HG02257.hp2
HG02559.hp1
HG03540.hp1
NA18948.hp1
NA18986.hp1
NA18988.hp1
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.155-15890dupT
c.155-15890dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68314985
chrX:68315129 A
A
 T
T
 154 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(151): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 154 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(151): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-16033T>A
c.155-16033T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68315129
chrX:68315203 C
C
 T
T
 3 a0001c0001t0003g0151
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0003g0151
a0001c0001t0004g0094
a0001c0001t0004g0095
 3 HG03209.hp1
HG03516.hp1
NA18522.hp1
HG03209.hp1
HG03516.hp1
NA18522.hp1
 intron_variant MODIFIER c.155-16107G>A
c.155-16107G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68315203
chrX:68315561 C
C
 T
T
 24 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(21): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0019g0003
a0001c0001t0030g0155
 24 HG01891.hp2
HG02109.hp1
HG02257.hp1
others(21): Show 
HG01891.hp2
HG02109.hp1
HG02257.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-16465G>A
c.155-16465G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68315561
chrX:68315744 AC
AC
 A
A
 3 a0001c0001t0004g0004
a0001c0001t0008g0096
a0001c0001t0019g0003
a0001c0001t0004g0004
a0001c0001t0008g0096
a0001c0001t0019g0003
 3 HG02109.hp1
HG02257.hp1
HG02809.hp2
HG02109.hp1
HG02257.hp1
HG02809.hp2
 intron_variant MODIFIER c.155-16649delG
c.155-16649delG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68315744
chrX:68315889 C
C
 T
T
 5 a0001c0001t0003g0101
a0001c0001t0004g0010
a0001c0001t0004g0011
others(2): Show 
a0001c0001t0003g0101
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0003c0004t0014g0102
 5 HG02280.hp2
HG02451.hp2
HG02723.hp1
others(2): Show 
HG02280.hp2
HG02451.hp2
HG02723.hp1
HG02886.hp1
HG02922.hp2
 intron_variant MODIFIER c.155-16793G>A
c.155-16793G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68315889
chrX:68316089 G
G
 A
A
 24 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(21): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0019g0003
a0001c0001t0030g0155
 24 HG01891.hp2
HG02109.hp1
HG02257.hp1
others(21): Show 
HG01891.hp2
HG02109.hp1
HG02257.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-16993C>T
c.155-16993C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68316089
chrX:68316388 T
T
 C
C
 12 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0077
others(9): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0002g0124
a0001c0001t0002g0144
a0001c0001t0016g0119
a0001c0001t0022g0103
a0001c0001t0023g0037
 12 HG01081.hp1
HG01346.hp1
HG02071.hp1
others(9): Show 
HG01081.hp1
HG01346.hp1
HG02071.hp1
HG02132.hp1
HG02602.hp1
HG02683.hp1
HG02683.hp2
HG03490.hp1
HG04115.hp1
NA18612.hp1
NA18944.hp1
NA18966.hp1
 intron_variant MODIFIER c.155-17292A>G
c.155-17292A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68316388
chrX:68316772 T
T
 TC
TC
 24 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(21): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0019g0003
a0001c0001t0030g0155
 24 HG01891.hp2
HG02109.hp1
HG02257.hp1
others(21): Show 
HG01891.hp2
HG02109.hp1
HG02257.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-17677dupG
c.155-17677dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68316772
chrX:68316871 A
A
 G
G
 21 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(18): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0019g0003
a0001c0001t0030g0155
 21 HG01891.hp2
HG02109.hp1
HG02257.hp1
others(18): Show 
HG01891.hp2
HG02109.hp1
HG02257.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.155-17775T>C
c.155-17775T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68316871
chrX:68317175 C
C
 G
G
 1 a0001c0003t0010g0085
a0001c0003t0010g0085
 1 HG02735.hp1
HG02735.hp1
 intron_variant MODIFIER c.155-18079G>C
c.155-18079G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317175
chrX:68317193 A
A
 G
G
 4 a0001c0001t0001g0016
a0001c0001t0001g0059
a0001c0001t0001g0074
others(1): Show 
a0001c0001t0001g0016
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0132
 4 HG01069.hp1
HG01256.hp1
HG01258.hp1
others(1): Show 
HG01069.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
 intron_variant MODIFIER c.155-18097T>C
c.155-18097T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317193
chrX:68317299 C
C
 CA
CA
 1 a0001c0001t0006g0013
a0001c0001t0006g0013
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.155-18204dupT
c.155-18204dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317299
chrX:68317299 CA
CA
 C
C
 1 a0001c0001t0004g0030
a0001c0001t0004g0030
 1 HG01081.hp2
HG01081.hp2
 intron_variant MODIFIER c.155-18204delT
c.155-18204delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317299
chrX:68317338 G
G
 GGAAA
GGAAA
 16 a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0025
others(13): Show 
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0025
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0050
a0001c0001t0001g0068
a0001c0001t0001g0073
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0090
a0001c0001t0001g0132
a0001c0001t0001g0149
a0001c0001t0004g0034
a0003c0004t0014g0102
a0004c0005t0012g0024
 16 HG00609.hp1
HG01069.hp1
HG01169.hp2
others(13): Show 
HG00609.hp1
HG01069.hp1
HG01169.hp2
HG01256.hp1
HG01433.hp1
HG01515.hp1
HG02055.hp1
HG02602.hp1
HG02886.hp1
NA18977.hp1
NA18988.hp1
NA19004.hp1
NA19066.hp1
NA19068.hp1
NA19088.hp1
NA20805.hp1
 intron_variant MODIFIER c.155-18246_155-1824
others(8): Show 
c.155-18246_155-18243dupTTTC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317338
chrX:68317338 G
G
 GGAAAGAA
others(1): Show 
GGAAAGAAA
 11 a0001c0001t0001g0008
a0001c0001t0001g0039
a0001c0001t0001g0052
others(8): Show 
a0001c0001t0001g0008
a0001c0001t0001g0039
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0001t0001g0067
a0001c0001t0002g0054
a0001c0001t0002g0083
a0001c0001t0003g0065
a0001c0001t0003g0076
a0002c0002t0003g0001
 11 HG01192.hp1
HG01346.hp1
HG02129.hp1
others(8): Show 
HG01192.hp1
HG01346.hp1
HG02129.hp1
HG02135.hp1
HG02615.hp2
HG02698.hp1
NA18948.hp1
NA18952.hp1
NA18986.hp1
NA19009.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-18250_155-1824
others(12): Show 
c.155-18250_155-18243dupTTTCTTTC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317338
chrX:68317338 G
G
 GGAAAGAA
others(5): Show 
GGAAAGAAAGAAA
 9 a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0053
others(6): Show 
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0077
a0001c0001t0001g0097
a0001c0001t0001g0146
a0001c0001t0001g0153
a0001c0001t0003g0020
a0001c0001t0005g0138
 9 HG00621.hp1
HG01928.hp1
HG02071.hp1
others(6): Show 
HG00621.hp1
HG01928.hp1
HG02071.hp1
HG02683.hp2
HG02809.hp1
HG02976.hp1
HG04228.hp1
NA18970.hp1
NA18974.hp1
 intron_variant MODIFIER c.155-18254_155-1824
others(16): Show 
c.155-18254_155-18243dupTTTCTTTCTTTC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317338
chrX:68317338 G
G
 GGAAAGAA
others(9): Show 
GGAAAGAAAGAAAGAAA
 12 a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0048
others(9): Show 
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0048
a0001c0001t0001g0060
a0001c0001t0001g0143
a0001c0001t0002g0047
a0001c0001t0002g0055
a0001c0001t0002g0134
a0001c0001t0004g0010
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0137
 12 HG00673.hp1
HG02015.hp1
HG02451.hp2
others(9): Show 
HG00673.hp1
HG02015.hp1
HG02451.hp2
HG02559.hp2
HG02738.hp1
HG02818.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
NA18965.hp1
NA18983.hp1
NA19085.hp1
 intron_variant MODIFIER c.155-18258_155-1824
others(20): Show 
c.155-18258_155-18243dupTTTCTTTCTTTCTTTC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317338
chrX:68317338 G
G
 GGAAAGAA
others(13): Show 
GGAAAGAAAGAAAGAAAGAAA
 2 a0001c0001t0002g0006
a0001c0001t0005g0136
a0001c0001t0002g0006
a0001c0001t0005g0136
 2 HG02074.hp1
HG02717.hp1
HG02074.hp1
HG02717.hp1
 intron_variant MODIFIER c.155-18262_155-1824
others(24): Show 
c.155-18262_155-18243dupTTTCTTTCTTTCTTTCTTTC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317338
chrX:68317338 G
G
 GGAAAGAA
others(17): Show 
GGAAAGAAAGAAAGAAAGAAAGAAA
 4 a0001c0001t0001g0145
a0001c0001t0002g0133
a0001c0001t0003g0139
others(1): Show 
a0001c0001t0001g0145
a0001c0001t0002g0133
a0001c0001t0003g0139
a0001c0001t0022g0103
 4 HG01081.hp1
HG01891.hp1
HG02258.hp1
others(1): Show 
HG01081.hp1
HG01891.hp1
HG02258.hp1
NA18944.hp1
 intron_variant MODIFIER c.155-18266_155-1824
others(28): Show 
c.155-18266_155-18243dupTTTCTTTCTTTCTTTCTTTCTTTC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317338
chrX:68317338 G
G
 GGAAAGAA
others(21): Show 
GGAAAGAAAGAAAGAAAGAAAGAAAGAAA
 1 a0001c0001t0004g0012
a0001c0001t0004g0012
 1 HG02922.hp2
HG02922.hp2
 intron_variant MODIFIER c.155-18270_155-1824
others(32): Show 
c.155-18270_155-18243dupTTTCTTTCTTTCTTTCTTTCTTTCTT
TC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317338
chrX:68317338 G
G
 GGAAAGAA
others(25): Show 
GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA
 2 a0001c0001t0003g0091
a0001c0001t0004g0011
a0001c0001t0003g0091
a0001c0001t0004g0011
 2 HG00099.hp2
HG02280.hp2
HG00099.hp2
HG02280.hp2
 intron_variant MODIFIER c.155-18274_155-1824
others(36): Show 
c.155-18274_155-18243dupTTTCTTTCTTTCTTTCTTTCTTTCTT
TCTTTC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317338
chrX:68317338 G
G
 GGAAAGAA
others(29): Show 
GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA
 2 a0001c0001t0001g0009
a0001c0001t0003g0151
a0001c0001t0001g0009
a0001c0001t0003g0151
 2 NA18522.hp1
NA18995.hp1
NA18522.hp1
NA18995.hp1
 intron_variant MODIFIER c.155-18278_155-1824
others(40): Show 
c.155-18278_155-18243dupTTTCTTTCTTTCTTTCTTTCTTTCTT
TCTTTCTTTC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317338
chrX:68317338 G
G
 GGAAAGAA
others(33): Show 
GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA
 1 a0001c0001t0023g0037
a0001c0001t0023g0037
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.155-18282_155-1824
others(44): Show 
c.155-18282_155-18243dupTTTCTTTCTTTCTTTCTTTCTTTCTT
TCTTTCTTTCTTTC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317338
chrX:68317338 GGAAA
GGAAA
 G
G
 2 a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0005g0110
a0001c0001t0006g0013
 2 HG02630.hp1
HG03540.hp2
HG02630.hp1
HG03540.hp2
 intron_variant MODIFIER c.155-18246_155-1824
others(8): Show 
c.155-18246_155-18243delTTTC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317338
chrX:68317338 GGAAAGAA
others(5): Show 
GGAAAGAAAGAAA
 G
G
 1 a0001c0001t0008g0112
a0001c0001t0008g0112
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.155-18254_155-1824
others(16): Show 
c.155-18254_155-18243delTTTCTTTCTTTC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317338
chrX:68317338 GGAAAGAA
others(9): Show 
GGAAAGAAAGAAAGAAA
 G
G
 4 a0001c0001t0002g0116
a0001c0001t0003g0118
a0001c0001t0004g0117
others(1): Show 
a0001c0001t0002g0116
a0001c0001t0003g0118
a0001c0001t0004g0117
a0001c0001t0030g0155
 4 HG01891.hp2
HG02572.hp1
HG02895.hp1
others(1): Show 
HG01891.hp2
HG02572.hp1
HG02895.hp1
HG03579.hp1
 intron_variant MODIFIER c.155-18258_155-1824
others(20): Show 
c.155-18258_155-18243delTTTCTTTCTTTCTTTC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317338
chrX:68317338 GGAAAGAA
others(13): Show 
GGAAAGAAAGAAAGAAAGAAA
 G
G
 10 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(7): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0005g0107
 10 HG02486.hp1
HG02615.hp1
HG02922.hp1
others(7): Show 
HG02486.hp1
HG02615.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
NA18906.hp2
 intron_variant MODIFIER c.155-18262_155-1824
others(24): Show 
c.155-18262_155-18243delTTTCTTTCTTTCTTTCTTTC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317338
chrX:68317360 AAAGAAAG
others(13): Show 
AAAGAAAGAAAGAAAGAAAGG
 A
A
 3 a0001c0001t0004g0004
a0001c0001t0008g0096
a0001c0001t0019g0003
a0001c0001t0004g0004
a0001c0001t0008g0096
a0001c0001t0019g0003
 3 HG02109.hp1
HG02257.hp1
HG02809.hp2
HG02109.hp1
HG02257.hp1
HG02809.hp2
 intron_variant MODIFIER c.155-18284_155-1826
others(24): Show 
c.155-18284_155-18265delCCTTTCTTTCTTTCTTTCTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317360
chrX:68317360 AAAGAAAG
others(17): Show 
AAAGAAAGAAAGAAAGAAAGGAAGG
 A
A
 1 a0001c0001t0007g0032
a0001c0001t0007g0032
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.155-18288_155-1826
others(28): Show 
c.155-18288_155-18265delCCTTCCTTTCTTTCTTTCTTTCTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317360
chrX:68317360 AAAGAAAG
others(21): Show 
AAAGAAAGAAAGAAAGAAAGGAAGGAAGG
 A
A
 3 a0001c0001t0003g0122
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0003g0122
a0001c0001t0006g0105
a0001c0001t0006g0106
 3 HG02647.hp1
HG02886.hp2
NA19043.hp1
HG02647.hp1
HG02886.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-18292_155-1826
others(32): Show 
c.155-18292_155-18265delCCTTCCTTCCTTTCTTTCTTTCTTTC
TT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317360
chrX:68317364 A
A
 G
G
 1 a0001c0001t0005g0110
a0001c0001t0005g0110
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.155-18268T>C
c.155-18268T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317364
chrX:68317368 A
A
 G
G
 2 a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0005g0110
a0001c0001t0006g0013
 2 HG02630.hp1
HG03540.hp2
HG02630.hp1
HG03540.hp2
 intron_variant MODIFIER c.155-18272T>C
c.155-18272T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317368
chrX:68317368 AAAGAAAG
others(5): Show 
AAAGAAAGAAAGG
 A
A
 1 a0001c0001t0003g0063
a0001c0001t0003g0063
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.155-18284_155-1827
others(16): Show 
c.155-18284_155-18273delCCTTTCTTTCTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317368
chrX:68317372 A
A
 AAAGGAAG
others(1): Show 
AAAGGAAGG
 1 a0001c0001t0005g0152
a0001c0001t0005g0152
 1 HG02630.hp2
HG02630.hp2
 intron_variant MODIFIER c.155-18277_155-1827
others(12): Show 
c.155-18277_155-18276insCCTTCCTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317372
chrX:68317372 A
A
 G
G
 4 a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0008g0112
others(1): Show 
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0008g0112
a0001c0001t0030g0155
 4 HG02630.hp1
HG02818.hp2
HG02895.hp1
others(1): Show 
HG02630.hp1
HG02818.hp2
HG02895.hp1
HG03540.hp2
 intron_variant MODIFIER c.155-18276T>C
c.155-18276T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317372
chrX:68317376 A
A
 AAAGAAAG
others(37): Show 
AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGG
 1 a0001c0001t0002g0127
a0001c0001t0002g0127
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.155-18281_155-1828
others(48): Show 
c.155-18281_155-18280insCCTTTCTTTCTTTCTTTCTTTCTTTC
TTTCTTTCTTTCTTTCTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317376
chrX:68317376 A
A
 AAAGAAAG
others(41): Show 
AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGG
 1 a0001c0001t0009g0129
a0001c0001t0009g0129
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.155-18281_155-1828
others(52): Show 
c.155-18281_155-18280insCCTTCCTTTCTTTCTTTCTTTCTTTC
TTTCTTTCTTTCTTTCTTTCTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317376
chrX:68317376 A
A
 AAAGAAAG
others(25): Show 
AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGG
 2 a0001c0001t0002g0125
a0001c0001t0006g0120
a0001c0001t0002g0125
a0001c0001t0006g0120
 2 HG01169.hp1
HG01255.hp1
HG01169.hp1
HG01255.hp1
 intron_variant MODIFIER c.155-18281_155-1828
others(36): Show 
c.155-18281_155-18280insCCTTTCTTTCTTTCTTTCTTTCTTTC
TTTCTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317376
chrX:68317376 A
A
 AAAGAAAG
others(29): Show 
AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGG
 1 a0001c0001t0002g0021
a0001c0001t0002g0021
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.155-18281_155-1828
others(40): Show 
c.155-18281_155-18280insCCTTCCTTTCTTTCTTTCTTTCTTTC
TTTCTTTCTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317376
chrX:68317376 A
A
 AAAGAAAG
others(21): Show 
AAAGAAAGAAAGAAAGAAAGAAAGAAAGG
 3 a0001c0001t0006g0121
a0001c0001t0007g0023
a0001c0001t0009g0128
a0001c0001t0006g0121
a0001c0001t0007g0023
a0001c0001t0009g0128
 3 HG01167.hp1
HG02451.hp1
HG02559.hp1
HG01167.hp1
HG02451.hp1
HG02559.hp1
 intron_variant MODIFIER c.155-18281_155-1828
others(32): Show 
c.155-18281_155-18280insCCTTTCTTTCTTTCTTTCTTTCTTTC
TT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317376
chrX:68317376 A
A
 AAAGAAAG
others(25): Show 
AAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGG
 2 a0001c0001t0007g0022
a0001c0001t0007g0033
a0001c0001t0007g0022
a0001c0001t0007g0033
 2 NA19030.hp1
NA19030.hp2
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.155-18281_155-1828
others(36): Show 
c.155-18281_155-18280insCCTTCCTTTCTTTCTTTCTTTCTTTC
TTTCTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317376
chrX:68317376 A
A
 AAAGAAAG
others(45): Show 
AAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGA
AGG
 1 a0001c0001t0002g0115
a0001c0001t0002g0115
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.155-18281_155-1828
others(56): Show 
c.155-18281_155-18280insCCTTCCTTCCTTCCTTCCTTCCTTCC
TTTCTTTCTTTCTTTCTTTCTTTCTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317376
chrX:68317376 A
A
 AAAGAAAG
others(17): Show 
AAAGAAAGAAAGAAAGAAAGAAAGG
 1 a0001c0001t0026g0056
a0001c0001t0026g0056
 1 NA20905.hp1
NA20905.hp1
 intron_variant MODIFIER c.155-18281_155-1828
others(28): Show 
c.155-18281_155-18280insCCTTTCTTTCTTTCTTTCTTTCTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317376
chrX:68317376 A
A
 AAAGAAAG
others(33): Show 
AAAGAAAGAAAGAAAGAAAGAAAGGAAGAAAGGAAGGAAGG
 1 a0001c0001t0020g0099
a0001c0001t0020g0099
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.155-18281_155-1828
others(44): Show 
c.155-18281_155-18280insCCTTCCTTCCTTTCTTCCTTTCTTTC
TTTCTTTCTTTCTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317376
chrX:68317376 A
A
 AAAGAAAG
others(21): Show 
AAAGAAAGAAAGAAAGAAAGAAAGGAAGG
 1 a0001c0001t0001g0071
a0001c0001t0001g0071
 1 HG00642.hp1
HG00642.hp1
 intron_variant MODIFIER c.155-18281_155-1828
others(32): Show 
c.155-18281_155-18280insCCTTCCTTTCTTTCTTTCTTTCTTTC
TT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317376
chrX:68317376 A
A
 AAAGAAAG
others(17): Show 
AAAGAAAGAAAGAAAGAAAGGAAGG
 1 a0001c0001t0002g0144
a0001c0001t0002g0144
 1 HG02132.hp1
HG02132.hp1
 intron_variant MODIFIER c.155-18281_155-1828
others(28): Show 
c.155-18281_155-18280insCCTTCCTTTCTTTCTTTCTTTCTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317376
chrX:68317376 A
A
 AAAGAAAG
others(21): Show 
AAAGAAAGAAAGAAAGAAAGGAAGGAAGG
 1 a0001c0001t0002g0124
a0001c0001t0002g0124
 1 NA18612.hp1
NA18612.hp1
 intron_variant MODIFIER c.155-18281_155-1828
others(32): Show 
c.155-18281_155-18280insCCTTCCTTCCTTTCTTTCTTTCTTTC
TT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317376
chrX:68317376 A
A
 AAAGAAAG
others(9): Show 
AAAGAAAGAAAGAAAGG
 2 a0001c0001t0001g0070
a0001c0001t0013g0042
a0001c0001t0001g0070
a0001c0001t0013g0042
 2 HG01346.hp2
NA19056.hp1
HG01346.hp2
NA19056.hp1
 intron_variant MODIFIER c.155-18281_155-1828
others(20): Show 
c.155-18281_155-18280insCCTTTCTTTCTTTCTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317376
chrX:68317376 A
A
 AAAGAAAG
others(13): Show 
AAAGAAAGAAAGAAAGGAAGG
 3 a0001c0001t0001g0041
a0001c0001t0002g0123
a0001c0001t0003g0018
a0001c0001t0001g0041
a0001c0001t0002g0123
a0001c0001t0003g0018
 3 HG02027.hp1
HG02280.hp1
NA19007.hp1
HG02027.hp1
HG02280.hp1
NA19007.hp1
 intron_variant MODIFIER c.155-18281_155-1828
others(24): Show 
c.155-18281_155-18280insCCTTCCTTTCTTTCTTTCTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317376
chrX:68317376 A
A
 AAAGAAAG
others(21): Show 
AAAGAAAGAAAGAAAGGAAGGAAGGAAGG
 1 a0001c0001t0003g0113
a0001c0001t0003g0113
 1 HG02723.hp2
HG02723.hp2
 intron_variant MODIFIER c.155-18281_155-1828
others(32): Show 
c.155-18281_155-18280insCCTTCCTTCCTTCCTTTCTTTCTTTC
TT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317376
chrX:68317376 A
A
 AAAGAAAG
others(8): Show 
AAAGAAAGAAAGAAGG
 1 a0001c0001t0001g0154
a0001c0001t0001g0154
 1 NA19005.hp1
NA19005.hp1
 intron_variant MODIFIER c.155-18281_155-1828
others(19): Show 
c.155-18281_155-18280insCCTTCTTTCTTTCTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317376
chrX:68317376 A
A
 AAAGAAAG
others(5): Show 
AAAGAAAGAAAGG
 7 a0001c0001t0001g0017
a0001c0001t0001g0044
a0001c0001t0001g0080
others(4): Show 
a0001c0001t0001g0017
a0001c0001t0001g0044
a0001c0001t0001g0080
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0003g0100
a0001c0003t0010g0085
 7 HG01106.hp1
HG02056.hp1
HG02735.hp1
others(4): Show 
HG01106.hp1
HG02056.hp1
HG02735.hp1
HG03017.hp1
HG03942.hp1
NA18971.hp1
NA19060.hp1
 intron_variant MODIFIER c.155-18281_155-1828
others(16): Show 
c.155-18281_155-18280insCCTTTCTTTCTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317376
chrX:68317376 A
A
 AAAGAAAG
others(9): Show 
AAAGAAAGAAAGGAAGG
 1 a0001c0001t0004g0026
a0001c0001t0004g0026
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.155-18281_155-1828
others(20): Show 
c.155-18281_155-18280insCCTTCCTTTCTTTCTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317376
chrX:68317376 A
A
 AAAGAAAG
others(13): Show 
AAAGAAAGAAAGGAAGGAAGG
 3 a0001c0001t0001g0092
a0001c0001t0021g0150
a0001c0001t0024g0007
a0001c0001t0001g0092
a0001c0001t0021g0150
a0001c0001t0024g0007
 3 HG03471.hp1
NA18960.hp1
NA19000.hp1
HG03471.hp1
NA18960.hp1
NA19000.hp1
 intron_variant MODIFIER c.155-18281_155-1828
others(24): Show 
c.155-18281_155-18280insCCTTCCTTCCTTTCTTTCTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317376
chrX:68317376 A
A
 AAAGAAAG
others(21): Show 
AAAGAAAGAAAGGAAGGAAGGAAGGAAGG
 1 a0001c0001t0002g0019
a0001c0001t0002g0019
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.155-18281_155-1828
others(32): Show 
c.155-18281_155-18280insCCTTCCTTCCTTCCTTCCTTTCTTTC
TT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317376
chrX:68317376 A
A
 AAAGAAAG
others(8): Show 
AAAGAAAGAAGGAAGG
 1 a0001c0001t0025g0087
a0001c0001t0025g0087
 1 NA18943.hp1
NA18943.hp1
 intron_variant MODIFIER c.155-18281_155-1828
others(19): Show 
c.155-18281_155-18280insCCTTCCTTCTTTCTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317376
chrX:68317376 A
A
 AAAGAAAG
others(1): Show 
AAAGAAAGG
 4 a0001c0001t0001g0027
a0001c0001t0001g0141
a0001c0001t0015g0148
others(1): Show 
a0001c0001t0001g0027
a0001c0001t0001g0141
a0001c0001t0015g0148
a0001c0003t0010g0089
 4 HG01074.hp1
HG01943.hp1
HG03688.hp1
others(1): Show 
HG01074.hp1
HG01943.hp1
HG03688.hp1
NA18994.hp1
 intron_variant MODIFIER c.155-18281_155-1828
others(12): Show 
c.155-18281_155-18280insCCTTTCTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317376
chrX:68317376 A
A
 AAAGAAAG
others(9): Show 
AAAGAAAGGAAGGAAGG
 3 a0001c0001t0001g0147
a0001c0001t0004g0005
a0001c0001t0029g0031
a0001c0001t0001g0147
a0001c0001t0004g0005
a0001c0001t0029g0031
 3 HG00735.hp2
HG01934.hp1
NA18962.hp1
HG00735.hp2
HG01934.hp1
NA18962.hp1
 intron_variant MODIFIER c.155-18281_155-1828
others(20): Show 
c.155-18281_155-18280insCCTTCCTTCCTTTCTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317376
chrX:68317376 A
A
 G
G
 10 a0001c0001t0002g0116
a0001c0001t0003g0101
a0001c0001t0003g0118
others(7): Show 
a0001c0001t0002g0116
a0001c0001t0003g0101
a0001c0001t0003g0118
a0001c0001t0004g0117
a0001c0001t0005g0110
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0008g0112
a0001c0001t0017g0036
a0001c0001t0030g0155
 10 HG01891.hp2
HG01952.hp1
HG02572.hp1
others(7): Show 
HG01891.hp2
HG01952.hp1
HG02572.hp1
HG02630.hp1
HG02630.hp2
HG02723.hp1
HG02818.hp2
HG02895.hp1
HG03540.hp2
HG03579.hp1
 intron_variant MODIFIER c.155-18280T>C
c.155-18280T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317376
chrX:68317376 AAAGG
AAAGG
 A
A
 4 a0001c0001t0001g0043
a0001c0001t0001g0064
a0001c0001t0004g0030
others(1): Show 
a0001c0001t0001g0043
a0001c0001t0001g0064
a0001c0001t0004g0030
a0001c0001t0027g0072
 4 HG00099.hp1
HG01081.hp2
HG02300.hp1
others(1): Show 
HG00099.hp1
HG01081.hp2
HG02300.hp1
NA18747.hp1
 intron_variant MODIFIER c.155-18284_155-1828
others(8): Show 
c.155-18284_155-18281delCCTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317376
chrX:68317376 AAAGGAAG
others(5): Show 
AAAGGAAGGAAGG
 A
A
 1 a0001c0001t0001g0093
a0001c0001t0001g0093
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.155-18292_155-1828
others(16): Show 
c.155-18292_155-18281delCCTTCCTTCCTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317376
chrX:68317376 AAAGGAAG
others(9): Show 
AAAGGAAGGAAGGAAGG
 A
A
 1 a0001c0001t0003g0081
a0001c0001t0003g0081
 1 HG03492.hp1
HG03492.hp1
 intron_variant MODIFIER c.155-18296_155-1828
others(20): Show 
c.155-18296_155-18281delCCTTCCTTCCTTCCTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317376
chrX:68317379 G
G
 GAAAGAAA
GAAAGAAA
 1 a0001c0001t0001g0066
a0001c0001t0001g0066
 1 NA18990.hp1
NA18990.hp1
 intron_variant MODIFIER c.155-18284_155-1828
others(11): Show 
c.155-18284_155-18283insTTTCTTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317379
chrX:68317379 G
G
 GAAAGAAA
others(8): Show 
GAAAGAAAGAAAGAAA
 1 a0002c0002t0001g0002
a0002c0002t0001g0002
 1 HG01358.hp1
HG01358.hp1
 intron_variant MODIFIER c.155-18284_155-1828
others(19): Show 
c.155-18284_155-18283insTTTCTTTCTTTCTTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317379
chrX:68317379 G
G
 GAAAGAAA
others(11): Show 
GAAAGAAAGAAAGAAAGAA
 1 a0001c0001t0016g0119
a0001c0001t0016g0119
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.155-18284_155-1828
others(22): Show 
c.155-18284_155-18283insTTCTTTCTTTCTTTCTTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317379
chrX:68317379 G
G
 GAAAGAAA
others(23): Show 
GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA
 1 a0001c0001t0001g0140
a0001c0001t0001g0140
 1 NA18966.hp1
NA18966.hp1
 intron_variant MODIFIER c.155-18284_155-1828
others(34): Show 
c.155-18284_155-18283insTTCTTTCTTTCTTTCTTTCTTTCTTT
CTTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317379
chrX:68317380 G
G
 A
A
 40 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0016
others(37): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0025
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0048
a0001c0001t0001g0059
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0090
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0133
a0001c0001t0003g0035
a0001c0001t0004g0034
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0011g0061
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0028g0084
a0004c0005t0012g0024
 40 HG00140.hp1
HG00673.hp1
HG01069.hp1
others(37): Show 
HG00140.hp1
HG00673.hp1
HG01069.hp1
HG01081.hp1
HG01099.hp1
HG01169.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG02055.hp1
HG02071.hp1
HG02083.hp1
HG02602.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02738.hp1
HG02818.hp1
HG02976.hp1
HG03490.hp1
HG03516.hp1
HG04115.hp1
NA18944.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18965.hp1
NA18977.hp1
NA18982.hp1
NA18986.hp1
NA18988.hp1
NA19004.hp1
NA19012.hp1
NA19070.hp1
NA19088.hp1
NA20752.hp1
 intron_variant MODIFIER c.155-18284C>T
c.155-18284C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317380
chrX:68317383 G
G
 A
A
 1 a0001c0001t0001g0066
a0001c0001t0001g0066
 1 NA18990.hp1
NA18990.hp1
 intron_variant MODIFIER c.155-18287C>T
c.155-18287C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317383
chrX:68317384 G
G
 A
A
 11 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0038
others(8): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0038
a0001c0001t0001g0043
a0001c0001t0001g0064
a0001c0001t0001g0098
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0005g0136
a0001c0001t0011g0061
a0001c0001t0027g0072
 11 HG00099.hp1
HG01081.hp2
HG01346.hp1
others(8): Show 
HG00099.hp1
HG01081.hp2
HG01346.hp1
HG02055.hp1
HG02300.hp1
HG02602.hp1
HG02717.hp1
NA18747.hp1
NA18955.hp1
NA18982.hp1
NA19004.hp1
 intron_variant MODIFIER c.155-18288C>T
c.155-18288C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317384
chrX:68317388 G
G
 A
A
 2 a0001c0001t0001g0008
a0001c0001t0001g0043
a0001c0001t0001g0008
a0001c0001t0001g0043
 2 HG01346.hp1
NA18747.hp1
HG01346.hp1
NA18747.hp1
 intron_variant MODIFIER c.155-18292C>T
c.155-18292C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317388
chrX:68317390 A
A
 G
G
 1 a0001c0001t0009g0129
a0001c0001t0009g0129
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.155-18294T>C
c.155-18294T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317390
chrX:68317392 G
G
 A
A
 1 a0001c0001t0001g0008
a0001c0001t0001g0008
 1 HG01346.hp1
HG01346.hp1
 intron_variant MODIFIER c.155-18296C>T
c.155-18296C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317392
chrX:68317394 A
A
 G
G
 4 a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0009g0128
others(1): Show 
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
 4 HG01243.hp1
HG01255.hp1
HG02451.hp1
others(1): Show 
HG01243.hp1
HG01255.hp1
HG02451.hp1
HG03540.hp1
 intron_variant MODIFIER c.155-18298T>C
c.155-18298T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317394
chrX:68317422 A
A
 G
G
 23 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(20): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0019g0003
a0001c0001t0030g0155
 23 HG01891.hp2
HG02109.hp1
HG02257.hp1
others(20): Show 
HG01891.hp2
HG02109.hp1
HG02257.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-18326T>C
c.155-18326T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317422
chrX:68317462 A
A
 AGAG
AGAG
 2 a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0105
a0001c0001t0006g0106
 2 HG02647.hp1
HG02886.hp2
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.155-18369_155-1836
others(7): Show 
c.155-18369_155-18367dupCTC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317462
chrX:68317479 AAGGGAGA
others(5): Show 
AAGGGAGAGAGGG
 A
A
 20 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(17): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0030g0155
 20 HG01891.hp2
HG02109.hp1
HG02257.hp1
others(17): Show 
HG01891.hp2
HG02109.hp1
HG02257.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.155-18395_155-1838
others(16): Show 
c.155-18395_155-18384delCCCTCTCTCCCT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317479
chrX:68317497 G
G
 A
A
 1 a0001c0001t0019g0003
a0001c0001t0019g0003
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.155-18401C>T
c.155-18401C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317497
chrX:68317502 G
G
 A
A
 1 a0001c0001t0019g0003
a0001c0001t0019g0003
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.155-18406C>T
c.155-18406C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317502
chrX:68317505 GGGAAAGA
others(29): Show 
GGGAAAGAGAGAGAGAAAGAAAGAAAGAAAGAAAAAA
 G
G
 1 a0001c0001t0019g0003
a0001c0001t0019g0003
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.155-18445_155-1841
others(40): Show 
c.155-18445_155-18410delTTTTTTCTTTCTTTCTTTCTTTCTCT
CTCTCTTTCC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317505
chrX:68317517 GAGAA
GAGAA
 G
G
 2 a0001c0001t0001g0069
a0001c0001t0027g0072
a0001c0001t0001g0069
a0001c0001t0027g0072
 2 HG00099.hp1
HG00140.hp1
HG00099.hp1
HG00140.hp1
 intron_variant MODIFIER c.155-18425_155-1842
others(8): Show 
c.155-18425_155-18422delTTCT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317517
chrX:68317519 GAAAGAAA
others(13): Show 
GAAAGAAAGAAAGAAAGAAAA
 G
G
 17 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0077
others(14): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0091
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0016g0119
a0001c0001t0022g0103
a0001c0001t0023g0037
 17 HG00099.hp2
HG01081.hp1
HG01346.hp1
others(14): Show 
HG00099.hp2
HG01081.hp1
HG01346.hp1
HG02071.hp1
HG02132.hp1
HG02559.hp2
HG02602.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02818.hp1
HG02976.hp1
HG03490.hp1
HG04115.hp1
NA18612.hp1
NA18944.hp1
NA18966.hp1
 intron_variant MODIFIER c.155-18443_155-1842
others(24): Show 
c.155-18443_155-18424delTTTTCTTTCTTTCTTTCTTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317519
chrX:68317527 GAAAGAAA
others(5): Show 
GAAAGAAAGAAAA
 G
G
 4 a0001c0001t0002g0133
a0001c0001t0007g0022
a0001c0001t0007g0033
others(1): Show 
a0001c0001t0002g0133
a0001c0001t0007g0022
a0001c0001t0007g0033
a0001c0001t0020g0099
 4 HG00738.hp1
HG01891.hp1
NA19030.hp1
others(1): Show 
HG00738.hp1
HG01891.hp1
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.155-18443_155-1843
others(16): Show 
c.155-18443_155-18432delTTTTCTTTCTTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317527
chrX:68317531 GAAAGAAA
others(1): Show 
GAAAGAAAA
 G
G
 18 a0001c0001t0001g0071
a0001c0001t0002g0019
a0001c0001t0002g0021
others(15): Show 
a0001c0001t0001g0071
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0113
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0007g0023
a0001c0001t0008g0096
a0001c0001t0009g0128
a0001c0001t0009g0129
 18 HG00642.hp1
HG00735.hp2
HG01243.hp1
others(15): Show 
HG00642.hp1
HG00735.hp2
HG01243.hp1
HG01255.hp1
HG02109.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02559.hp1
HG02630.hp2
HG02723.hp2
HG02809.hp1
HG02886.hp2
HG03209.hp1
HG03516.hp1
HG03540.hp1
NA18522.hp1
 intron_variant MODIFIER c.155-18443_155-1843
others(12): Show 
c.155-18443_155-18436delTTTTCTTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317531
chrX:68317532 AAAGAAAA
others(12): Show 
AAAGAAAAAAAGAAAGAAAG
 A
A
 1 a0001c0001t0003g0139
a0001c0001t0003g0139
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.155-18455_155-1843
others(23): Show 
c.155-18455_155-18437delCTTTCTTTCTTTTTTTCTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317532
chrX:68317535 GAAAA
GAAAA
 G
G
 2 a0001c0001t0002g0126
a0001c0001t0030g0155
a0001c0001t0002g0126
a0001c0001t0030g0155
 2 HG02895.hp1
HG03225.hp1
HG02895.hp1
HG03225.hp1
 intron_variant MODIFIER c.155-18443_155-1844
others(8): Show 
c.155-18443_155-18440delTTTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317535
chrX:68317539 A
A
 AAAAG
AAAAG
 8 a0001c0001t0001g0044
a0001c0001t0001g0048
a0001c0001t0001g0080
others(5): Show 
a0001c0001t0001g0044
a0001c0001t0001g0048
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0003g0101
a0001c0001t0004g0010
a0001c0001t0004g0011
a0003c0004t0014g0102
 8 HG02280.hp2
HG02451.hp2
HG02723.hp1
others(5): Show 
HG02280.hp2
HG02451.hp2
HG02723.hp1
HG02738.hp1
HG02886.hp1
HG03017.hp1
HG03710.hp1
HG03942.hp1
 intron_variant MODIFIER c.155-18447_155-1844
others(8): Show 
c.155-18447_155-18444dupCTTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317539
chrX:68317539 A
A
 AAAAGAAA
others(1): Show 
AAAAGAAAG
 5 a0001c0001t0001g0149
a0001c0001t0004g0012
a0001c0001t0004g0034
others(2): Show 
a0001c0001t0001g0149
a0001c0001t0004g0012
a0001c0001t0004g0034
a0001c0001t0006g0120
a0001c0001t0006g0121
 5 HG01167.hp1
HG01169.hp1
HG02055.hp1
others(2): Show 
HG01167.hp1
HG01169.hp1
HG02055.hp1
HG02922.hp2
NA20805.hp1
 intron_variant MODIFIER c.155-18451_155-1844
others(12): Show 
c.155-18451_155-18444dupCTTTCTTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317539
chrX:68317539 A
A
 AAAAGAAA
others(5): Show 
AAAAGAAAGAAAG
 3 a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0021g0150
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0021g0150
 3 HG01081.hp2
HG03471.hp1
NA18906.hp1
HG01081.hp2
HG03471.hp1
NA18906.hp1
 intron_variant MODIFIER c.155-18455_155-1844
others(16): Show 
c.155-18455_155-18444dupCTTTCTTTCTTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317539
chrX:68317539 A
A
 AAAAGAAA
others(9): Show 
AAAAGAAAGAAAGAAAG
 1 a0001c0001t0002g0115
a0001c0001t0002g0115
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.155-18459_155-1844
others(20): Show 
c.155-18459_155-18444dupCTTTCTTTCTTTCTTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317539
chrX:68317539 A
A
 G
G
 19 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(16): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0006g0106
a0001c0001t0007g0032
a0001c0001t0008g0112
 19 HG01891.hp2
HG02109.hp1
HG02486.hp1
others(16): Show 
HG01891.hp2
HG02109.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02818.hp2
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-18443T>C
c.155-18443T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317539
chrX:68317539 AAAAG
AAAAG
 A
A
 24 a0001c0001t0001g0015
a0001c0001t0001g0029
a0001c0001t0001g0040
others(21): Show 
a0001c0001t0001g0015
a0001c0001t0001g0029
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0075
a0001c0001t0001g0088
a0001c0001t0001g0097
a0001c0001t0001g0154
a0001c0001t0002g0047
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0003g0035
a0001c0001t0003g0065
a0001c0001t0003g0081
a0001c0001t0015g0148
a0001c0001t0018g0104
a0001c0001t0025g0087
a0001c0001t0029g0031
 24 HG00280.hp1
HG00609.hp1
HG00621.hp1
others(21): Show 
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00673.hp1
HG01099.hp1
HG01943.hp1
HG02015.hp1
HG02056.hp1
HG02129.hp1
HG02615.hp2
HG03492.hp1
NA18747.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18974.hp1
NA18977.hp1
NA18988.hp1
NA19004.hp1
NA19005.hp1
NA19012.hp1
 intron_variant MODIFIER c.155-18447_155-1844
others(8): Show 
c.155-18447_155-18444delCTTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317539
chrX:68317539 AAAAGAAA
others(1): Show 
AAAAGAAAG
 A
A
 5 a0001c0001t0001g0017
a0001c0001t0001g0070
a0001c0001t0001g0086
others(2): Show 
a0001c0001t0001g0017
a0001c0001t0001g0070
a0001c0001t0001g0086
a0001c0001t0001g0093
a0001c0001t0002g0123
 5 HG00735.hp1
HG02027.hp1
NA18971.hp1
others(2): Show 
HG00735.hp1
HG02027.hp1
NA18971.hp1
NA19056.hp1
NA19060.hp1
 intron_variant MODIFIER c.155-18451_155-1844
others(12): Show 
c.155-18451_155-18444delCTTTCTTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317539
chrX:68317543 G
G
 A
A
 16 a0001c0001t0001g0071
a0001c0001t0002g0019
a0001c0001t0002g0021
others(13): Show 
a0001c0001t0001g0071
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0113
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0152
a0001c0001t0007g0023
a0001c0001t0009g0128
a0001c0001t0009g0129
 16 HG00642.hp1
HG00735.hp2
HG01243.hp1
others(13): Show 
HG00642.hp1
HG00735.hp2
HG01243.hp1
HG01255.hp1
HG02109.hp2
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02559.hp1
HG02630.hp2
HG02723.hp2
HG02809.hp1
HG03209.hp1
HG03516.hp1
HG03540.hp1
NA18522.hp1
 intron_variant MODIFIER c.155-18447C>T
c.155-18447C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317543
chrX:68317547 G
G
 A
A
 4 a0001c0001t0002g0133
a0001c0001t0007g0022
a0001c0001t0007g0033
others(1): Show 
a0001c0001t0002g0133
a0001c0001t0007g0022
a0001c0001t0007g0033
a0001c0001t0020g0099
 4 HG00738.hp1
HG01891.hp1
NA19030.hp1
others(1): Show 
HG00738.hp1
HG01891.hp1
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.155-18451C>T
c.155-18451C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317547
chrX:68317555 G
G
 A
A
 18 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0077
others(15): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0091
a0001c0001t0003g0139
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0016g0119
a0001c0001t0022g0103
a0001c0001t0023g0037
 18 HG00099.hp2
HG01081.hp1
HG01346.hp1
others(15): Show 
HG00099.hp2
HG01081.hp1
HG01346.hp1
HG02071.hp1
HG02132.hp1
HG02258.hp1
HG02559.hp2
HG02602.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02818.hp1
HG02976.hp1
HG03490.hp1
HG04115.hp1
NA18612.hp1
NA18944.hp1
NA18966.hp1
 intron_variant MODIFIER c.155-18459C>T
c.155-18459C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317555
chrX:68317565 AAGAAAGA
others(3): Show 
AAGAAAGAAAG
 A
A
 6 a0001c0001t0002g0135
a0001c0001t0003g0111
a0001c0001t0003g0118
others(3): Show 
a0001c0001t0002g0135
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0005g0107
a0001c0001t0006g0013
a0001c0001t0007g0032
 6 HG02486.hp1
HG02572.hp1
HG02630.hp1
others(3): Show 
HG02486.hp1
HG02572.hp1
HG02630.hp1
HG02976.hp2
HG03130.hp1
NA18906.hp2
 intron_variant MODIFIER c.155-18479_155-1847
others(14): Show 
c.155-18479_155-18470delCTTTCTTTCT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317565
chrX:68317569 AAGAAAG
AAGAAAG
 A
A
 3 a0001c0001t0002g0116
a0001c0001t0003g0109
a0001c0001t0008g0112
a0001c0001t0002g0116
a0001c0001t0003g0109
a0001c0001t0008g0112
 3 HG02615.hp1
HG02818.hp2
HG03579.hp1
HG02615.hp1
HG02818.hp2
HG03579.hp1
 intron_variant MODIFIER c.155-18479_155-1847
others(10): Show 
c.155-18479_155-18474delCTTTCT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317569
chrX:68317573 A
A
 G
G
 1 a0001c0001t0006g0106
a0001c0001t0006g0106
 1 HG02647.hp1
HG02647.hp1
 intron_variant MODIFIER c.155-18477T>C
c.155-18477T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317573
chrX:68317573 AAG
AAG
 A
A
 4 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(1): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0019g0003
 4 HG02809.hp2
HG02922.hp1
HG03098.hp1
others(1): Show 
HG02809.hp2
HG02922.hp1
HG03098.hp1
HG03516.hp2
 intron_variant MODIFIER c.155-18479_155-1847
others(6): Show 
c.155-18479_155-18478delCT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317573
chrX:68317575 G
G
 GAA
GAA
 1 a0001c0001t0003g0122
a0001c0001t0003g0122
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.155-18480_155-1847
others(6): Show 
c.155-18480_155-18479insTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317575
chrX:68317579 A
A
 G
G
 3 a0001c0001t0004g0004
a0001c0001t0006g0105
a0001c0001t0008g0096
a0001c0001t0004g0004
a0001c0001t0006g0105
a0001c0001t0008g0096
 3 HG02109.hp1
HG02257.hp1
HG02886.hp2
HG02109.hp1
HG02257.hp1
HG02886.hp2
 intron_variant MODIFIER c.155-18483T>C
c.155-18483T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317579
chrX:68317584 AGAAAGAG
others(4): Show 
AGAAAGAGAGAG
 A
A
 7 a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
others(4): Show 
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0004g0117
a0001c0001t0005g0110
a0001c0001t0006g0106
a0001c0001t0030g0155
 7 HG01891.hp2
HG02647.hp1
HG02895.hp1
others(4): Show 
HG01891.hp2
HG02647.hp1
HG02895.hp1
HG02965.hp1
HG03139.hp1
HG03225.hp1
HG03540.hp2
 intron_variant MODIFIER c.155-18499_155-1848
others(15): Show 
c.155-18499_155-18489delCTCTCTCTTTC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317584
chrX:68317587 A
A
 G
G
 1 a0001c0001t0019g0003
a0001c0001t0019g0003
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.155-18491T>C
c.155-18491T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317587
chrX:68317588 AGAGAGAG
AGAGAGAG
 A
A
 3 a0001c0001t0004g0004
a0001c0001t0006g0105
a0001c0001t0008g0096
a0001c0001t0004g0004
a0001c0001t0006g0105
a0001c0001t0008g0096
 3 HG02109.hp1
HG02257.hp1
HG02886.hp2
HG02109.hp1
HG02257.hp1
HG02886.hp2
 intron_variant MODIFIER c.155-18499_155-1849
others(11): Show 
c.155-18499_155-18493delCTCTCTC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317588
chrX:68317593 G
G
 A
A
 13 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(10): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0005g0107
a0001c0001t0006g0013
a0001c0001t0007g0032
a0001c0001t0008g0112
a0001c0001t0019g0003
 13 HG02486.hp1
HG02572.hp1
HG02615.hp1
others(10): Show 
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02809.hp2
HG02818.hp2
HG02922.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03516.hp2
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.155-18497C>T
c.155-18497C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317593
chrX:68317599 G
G
 A
A
 13 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(10): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0005g0107
a0001c0001t0006g0013
a0001c0001t0007g0032
a0001c0001t0008g0112
a0001c0001t0019g0003
 13 HG02486.hp1
HG02572.hp1
HG02615.hp1
others(10): Show 
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02809.hp2
HG02818.hp2
HG02922.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03516.hp2
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.155-18503C>T
c.155-18503C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317599
chrX:68317599 GAAA
GAAA
 G
G
 10 a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
others(7): Show 
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0110
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0008g0096
a0001c0001t0030g0155
 10 HG01891.hp2
HG02109.hp1
HG02257.hp1
others(7): Show 
HG01891.hp2
HG02109.hp1
HG02257.hp1
HG02647.hp1
HG02886.hp2
HG02895.hp1
HG02965.hp1
HG03139.hp1
HG03225.hp1
HG03540.hp2
 intron_variant MODIFIER c.155-18506_155-1850
others(7): Show 
c.155-18506_155-18504delTTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317599
chrX:68317602 A
A
 AAAAG
AAAAG
 1 a0001c0001t0003g0122
a0001c0001t0003g0122
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.155-18510_155-1850
others(8): Show 
c.155-18510_155-18507dupCTTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317602
chrX:68317602 A
A
 G
G
 13 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(10): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0005g0107
a0001c0001t0006g0013
a0001c0001t0007g0032
a0001c0001t0008g0112
a0001c0001t0019g0003
 13 HG02486.hp1
HG02572.hp1
HG02615.hp1
others(10): Show 
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02809.hp2
HG02818.hp2
HG02922.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03516.hp2
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.155-18506T>C
c.155-18506T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317602
chrX:68317642 AAAG
AAAG
 A
A
 40 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0046
others(37): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0046
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0023g0037
a0004c0005t0012g0024
 40 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(37): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01169.hp2
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG01891.hp1
HG01928.hp1
HG02071.hp1
HG02109.hp2
HG02132.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18944.hp1
NA18966.hp1
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.155-18549_155-1854
others(7): Show 
c.155-18549_155-18547delCTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317642
chrX:68317667 A
A
 AAGG
AAGG
 1 a0001c0001t0002g0115
a0001c0001t0002g0115
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.155-18574_155-1857
others(7): Show 
c.155-18574_155-18572dupCCT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317667
chrX:68317709 GAAAGA
GAAAGA
 G
G
 3 a0001c0001t0003g0122
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0003g0122
a0001c0001t0006g0105
a0001c0001t0006g0106
 3 HG02647.hp1
HG02886.hp2
NA19043.hp1
HG02647.hp1
HG02886.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-18618_155-1861
others(9): Show 
c.155-18618_155-18614delTCTTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317709
chrX:68317820 GAGGAAAT
others(4): Show 
GAGGAAATCTCA
 G
G
 21 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(18): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0019g0003
a0001c0001t0030g0155
 21 HG01891.hp2
HG02109.hp1
HG02257.hp1
others(18): Show 
HG01891.hp2
HG02109.hp1
HG02257.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.155-18735_155-1872
others(15): Show 
c.155-18735_155-18725delTGAGATTTCCT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317820
chrX:68317876 C
C
 T
T
 1 a0001c0001t0001g0082
a0001c0001t0001g0082
 1 HG03710.hp1
HG03710.hp1
 intron_variant MODIFIER c.155-18780G>A
c.155-18780G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317876
chrX:68317916 A
A
 C
C
 3 a0001c0001t0004g0004
a0001c0001t0008g0096
a0001c0001t0019g0003
a0001c0001t0004g0004
a0001c0001t0008g0096
a0001c0001t0019g0003
 3 HG02109.hp1
HG02257.hp1
HG02809.hp2
HG02109.hp1
HG02257.hp1
HG02809.hp2
 intron_variant MODIFIER c.155-18820T>G
c.155-18820T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68317916
chrX:68318000 G
G
 A
A
 2 a0001c0001t0007g0022
a0001c0001t0007g0033
a0001c0001t0007g0022
a0001c0001t0007g0033
 2 NA19030.hp1
NA19030.hp2
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.155-18904C>T
c.155-18904C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68318000
chrX:68318713 G
G
 A
A
 32 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(29): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0002g0019
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0022g0103
a0001c0001t0023g0037
 32 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(29): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG01081.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG02071.hp1
HG02109.hp2
HG02132.hp1
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18944.hp1
NA18966.hp1
 intron_variant MODIFIER c.155-19617C>T
c.155-19617C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68318713
chrX:68318818 C
C
 T
T
 24 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(21): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0019g0003
a0001c0001t0030g0155
 24 HG01891.hp2
HG02109.hp1
HG02257.hp1
others(21): Show 
HG01891.hp2
HG02109.hp1
HG02257.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-19722G>A
c.155-19722G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68318818
chrX:68319057 C
C
 T
T
 1 a0001c0001t0003g0113
a0001c0001t0003g0113
 1 HG02723.hp2
HG02723.hp2
 intron_variant MODIFIER c.155-19961G>A
c.155-19961G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68319057
chrX:68319199 C
C
 CA
CA
 1 a0001c0001t0001g0027
a0001c0001t0001g0027
 1 NA18994.hp1
NA18994.hp1
 intron_variant MODIFIER c.155-20104dupT
c.155-20104dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68319199
chrX:68319442 G
G
 GA
GA
 2 a0001c0001t0007g0022
a0001c0001t0007g0033
a0001c0001t0007g0022
a0001c0001t0007g0033
 2 NA19030.hp1
NA19030.hp2
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.155-20347dupT
c.155-20347dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68319442
chrX:68319501 C
C
 A
A
 1 a0001c0001t0006g0013
a0001c0001t0006g0013
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.155-20405G>T
c.155-20405G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68319501
chrX:68319510 T
T
 C
C
 18 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(15): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0007g0032
a0001c0001t0008g0112
a0001c0001t0030g0155
 18 HG01891.hp2
HG02486.hp1
HG02572.hp1
others(15): Show 
HG01891.hp2
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.155-20414A>G
c.155-20414A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68319510
chrX:68319660 T
T
 C
C
 5 a0001c0001t0002g0021
a0001c0001t0002g0133
a0001c0001t0007g0022
others(2): Show 
a0001c0001t0002g0021
a0001c0001t0002g0133
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
 5 HG01891.hp1
HG02257.hp2
HG02559.hp1
others(2): Show 
HG01891.hp1
HG02257.hp2
HG02559.hp1
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.155-20564A>G
c.155-20564A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68319660
chrX:68319666 G
G
 A
A
 5 a0001c0001t0002g0021
a0001c0001t0002g0133
a0001c0001t0007g0022
others(2): Show 
a0001c0001t0002g0021
a0001c0001t0002g0133
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
 5 HG01891.hp1
HG02257.hp2
HG02559.hp1
others(2): Show 
HG01891.hp1
HG02257.hp2
HG02559.hp1
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.155-20570C>T
c.155-20570C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68319666
chrX:68319900 T
T
 C
C
 1 a0001c0001t0001g0098
a0001c0001t0001g0098
 1 NA18955.hp1
NA18955.hp1
 intron_variant MODIFIER c.155-20804A>G
c.155-20804A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68319900
chrX:68319902 C
C
 CATATAAA
others(28): Show 
CATATAAAGAATACTCAAAGTTGAAAATTGATAACA
 1 a0001c0001t0002g0047
a0001c0001t0002g0047
 1 HG00673.hp1
HG00673.hp1
 intron_variant MODIFIER c.155-20841_155-2080
others(39): Show 
c.155-20841_155-20807dupTGTTATCAATTTTCAACTTTGAGTAT
TCTTTATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68319902
chrX:68320350 A
A
 G
G
 3 a0001c0001t0003g0122
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0003g0122
a0001c0001t0006g0105
a0001c0001t0006g0106
 3 HG02647.hp1
HG02886.hp2
NA19043.hp1
HG02647.hp1
HG02886.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-21254T>C
c.155-21254T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68320350
chrX:68320358 T
T
 A
A
 2 a0001c0001t0001g0040
a0001c0001t0002g0047
a0001c0001t0001g0040
a0001c0001t0002g0047
 2 HG00673.hp1
NA18965.hp1
HG00673.hp1
NA18965.hp1
 intron_variant MODIFIER c.155-21262A>T
c.155-21262A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68320358
chrX:68320539 A
A
 AC
AC
 10 a0001c0001t0001g0040
a0001c0001t0001g0077
a0001c0001t0002g0057
others(7): Show 
a0001c0001t0001g0040
a0001c0001t0001g0077
a0001c0001t0002g0057
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0003g0076
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0026g0056
a0001c0003t0010g0089
 10 HG01192.hp1
HG01243.hp1
HG01255.hp1
others(7): Show 
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG02071.hp1
HG02451.hp1
HG03540.hp1
HG03688.hp1
NA18965.hp1
NA19012.hp1
NA20905.hp1
 intron_variant MODIFIER c.155-21444dupG
c.155-21444dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68320539
chrX:68320708 T
T
 C
C
 24 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(21): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0019g0003
a0001c0001t0030g0155
 24 HG01891.hp2
HG02109.hp1
HG02257.hp1
others(21): Show 
HG01891.hp2
HG02109.hp1
HG02257.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-21612A>G
c.155-21612A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68320708
chrX:68321245 G
G
 C
C
 24 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(21): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0019g0003
a0001c0001t0030g0155
 24 HG01891.hp2
HG02109.hp1
HG02257.hp1
others(21): Show 
HG01891.hp2
HG02109.hp1
HG02257.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-22149C>G
c.155-22149C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68321245
chrX:68321377 C
C
 T
T
 2 a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0105
a0001c0001t0006g0106
 2 HG02647.hp1
HG02886.hp2
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.155-22281G>A
c.155-22281G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68321377
chrX:68321572 T
T
 C
C
 154 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(151): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 154 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(151): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-22476A>G
c.155-22476A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68321572
chrX:68321576 G
G
 GT
GT
 1 a0001c0001t0003g0122
a0001c0001t0003g0122
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.155-22481dupA
c.155-22481dupA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68321576
chrX:68321612 G
G
 A
A
 1 a0001c0001t0003g0018
a0001c0001t0003g0018
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.155-22516C>T
c.155-22516C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68321612
chrX:68321656 G
G
 A
A
 1 a0001c0001t0003g0063
a0001c0001t0003g0063
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.155-22560C>T
c.155-22560C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68321656
chrX:68321759 CTCCACTA
others(9): Show 
CTCCACTACAAATATAA
 C
C
 1 a0001c0003t0010g0085
a0001c0003t0010g0085
 1 HG02735.hp1
HG02735.hp1
 intron_variant MODIFIER c.155-22679_155-2266
others(20): Show 
c.155-22679_155-22664delTTATATTTGTAGTGGA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68321759
chrX:68321945 T
T
 G
G
 1 a0001c0001t0006g0013
a0001c0001t0006g0013
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.155-22849A>C
c.155-22849A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68321945
chrX:68321964 T
T
 TTTTTA
TTTTTA
 74 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(71): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0030g0155
a0003c0004t0014g0102
 74 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(71): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18966.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-22873_155-2286
others(9): Show 
c.155-22873_155-22869dupTAAAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68321964
chrX:68322029 T
T
 C
C
 1 a0001c0001t0005g0110
a0001c0001t0005g0110
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.155-22933A>G
c.155-22933A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68322029
chrX:68322125 T
T
 C
C
 24 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(21): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0019g0003
a0001c0001t0030g0155
 24 HG01891.hp2
HG02109.hp1
HG02257.hp1
others(21): Show 
HG01891.hp2
HG02109.hp1
HG02257.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-23029A>G
c.155-23029A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68322125
chrX:68322269 G
G
 GC
GC
 1 a0001c0001t0003g0076
a0001c0001t0003g0076
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.155-23174dupG
c.155-23174dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68322269
chrX:68322330 TC
TC
 T
T
 1 a0001c0001t0001g0027
a0001c0001t0001g0027
 1 NA18994.hp1
NA18994.hp1
 intron_variant MODIFIER c.155-23235delG
c.155-23235delG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68322330
chrX:68322476 T
T
 C
C
 1 a0001c0001t0002g0133
a0001c0001t0002g0133
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.155-23380A>G
c.155-23380A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68322476
chrX:68322546 G
G
 T
T
 1 a0001c0001t0003g0122
a0001c0001t0003g0122
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.155-23450C>A
c.155-23450C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68322546
chrX:68322766 G
G
 GT
GT
 1 a0001c0001t0002g0054
a0001c0001t0002g0054
 1 NA18986.hp1
NA18986.hp1
 intron_variant MODIFIER c.155-23671_155-2367
others(5): Show 
c.155-23671_155-23670insA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68322766
chrX:68322770 G
G
 C
C
 1 a0001c0001t0003g0113
a0001c0001t0003g0113
 1 HG02723.hp2
HG02723.hp2
 intron_variant MODIFIER c.155-23674C>G
c.155-23674C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68322770
chrX:68322786 C
C
 T
T
 3 a0001c0001t0002g0116
a0001c0001t0005g0110
a0001c0001t0008g0112
a0001c0001t0002g0116
a0001c0001t0005g0110
a0001c0001t0008g0112
 3 HG02818.hp2
HG03540.hp2
HG03579.hp1
HG02818.hp2
HG03540.hp2
HG03579.hp1
 intron_variant MODIFIER c.155-23690G>A
c.155-23690G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68322786
chrX:68322896 A
A
 T
T
 24 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(21): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0019g0003
a0001c0001t0030g0155
 24 HG01891.hp2
HG02109.hp1
HG02257.hp1
others(21): Show 
HG01891.hp2
HG02109.hp1
HG02257.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-23800T>A
c.155-23800T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68322896
chrX:68322989 G
G
 A
A
 24 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(21): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0019g0003
a0001c0001t0030g0155
 24 HG01891.hp2
HG02109.hp1
HG02257.hp1
others(21): Show 
HG01891.hp2
HG02109.hp1
HG02257.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-23893C>T
c.155-23893C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68322989
chrX:68323369 CT
CT
 C
C
 1 a0001c0001t0002g0054
a0001c0001t0002g0054
 1 NA18986.hp1
NA18986.hp1
 intron_variant MODIFIER c.155-24274delA
c.155-24274delA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68323369
chrX:68323379 A
A
 G
G
 1 a0001c0001t0007g0023
a0001c0001t0007g0023
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.155-24283T>C
c.155-24283T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68323379
chrX:68323559 A
A
 G
G
 1 a0001c0001t0003g0035
a0001c0001t0003g0035
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.155-24463T>C
c.155-24463T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68323559
chrX:68323869 GACAATAA
others(26): Show 
GACAATAAAAAGCATTTGATTAAAATGCAGTACT
 G
G
 1 a0001c0001t0001g0098
a0001c0001t0001g0098
 1 NA18955.hp1
NA18955.hp1
 intron_variant MODIFIER c.155-24806_155-2477
others(37): Show 
c.155-24806_155-24774delAGTACTGCATTTTAATCAAATGCTTT
TTATTGT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68323869
chrX:68323886 G
G
 T
T
 1 a0001c0001t0002g0126
a0001c0001t0002g0126
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.155-24790C>A
c.155-24790C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68323886
chrX:68323989 C
C
 T
T
 5 a0001c0001t0002g0021
a0001c0001t0002g0133
a0001c0001t0007g0022
others(2): Show 
a0001c0001t0002g0021
a0001c0001t0002g0133
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
 5 HG01891.hp1
HG02257.hp2
HG02559.hp1
others(2): Show 
HG01891.hp1
HG02257.hp2
HG02559.hp1
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.155-24893G>A
c.155-24893G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68323989
chrX:68324102 CA
CA
 C
C
 1 a0001c0001t0001g0027
a0001c0001t0001g0027
 1 NA18994.hp1
NA18994.hp1
 intron_variant MODIFIER c.155-25007delT
c.155-25007delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68324102
chrX:68324200 G
G
 GA
GA
 1 a0001c0001t0002g0115
a0001c0001t0002g0115
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.155-25105dupT
c.155-25105dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68324200
chrX:68324371 G
G
 A
A
 7 a0001c0001t0002g0115
a0001c0001t0004g0026
a0001c0001t0004g0030
others(4): Show 
a0001c0001t0002g0115
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0021g0150
 7 HG01081.hp2
HG01167.hp1
HG01169.hp1
others(4): Show 
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG02055.hp1
HG02145.hp1
HG03471.hp1
NA18906.hp1
 intron_variant MODIFIER c.155-25275C>T
c.155-25275C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68324371
chrX:68324385 T
T
 C
C
 21 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(18): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0019g0003
a0001c0001t0030g0155
 21 HG01891.hp2
HG02109.hp1
HG02257.hp1
others(18): Show 
HG01891.hp2
HG02109.hp1
HG02257.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.155-25289A>G
c.155-25289A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68324385
chrX:68324421 G
G
 A
A
 24 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(21): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0019g0003
a0001c0001t0030g0155
 24 HG01891.hp2
HG02109.hp1
HG02257.hp1
others(21): Show 
HG01891.hp2
HG02109.hp1
HG02257.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-25325C>T
c.155-25325C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68324421
chrX:68324432 G
G
 A
A
 1 a0001c0001t0005g0110
a0001c0001t0005g0110
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.155-25336C>T
c.155-25336C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68324432
chrX:68324446 T
T
 TA
TA
 30 a0001c0001t0001g0098
a0001c0001t0001g0147
a0001c0001t0002g0014
others(27): Show 
a0001c0001t0001g0098
a0001c0001t0001g0147
a0001c0001t0002g0014
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0019g0003
a0001c0001t0030g0155
 30 HG01891.hp1
HG01891.hp2
HG01934.hp1
others(27): Show 
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG02109.hp1
HG02257.hp1
HG02257.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
NA18955.hp1
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.155-25351dupT
c.155-25351dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68324446
chrX:68324446 T
T
 TAA
TAA
 1 a0001c0001t0003g0122
a0001c0001t0003g0122
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.155-25352_155-2535
others(6): Show 
c.155-25352_155-25351dupTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68324446
chrX:68324446 TA
TA
 T
T
 8 a0001c0001t0001g0016
a0001c0001t0001g0075
a0001c0001t0002g0019
others(5): Show 
a0001c0001t0001g0016
a0001c0001t0001g0075
a0001c0001t0002g0019
a0001c0001t0002g0054
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0028g0084
a0004c0005t0012g0024
 8 HG01169.hp2
HG01256.hp1
HG02109.hp2
others(5): Show 
HG01169.hp2
HG01256.hp1
HG02109.hp2
HG02280.hp1
HG02809.hp1
NA18977.hp1
NA18986.hp1
NA19070.hp1
 intron_variant MODIFIER c.155-25351delT
c.155-25351delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68324446
chrX:68324468 G
G
 A
A
 3 a0001c0001t0003g0151
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0003g0151
a0001c0001t0004g0094
a0001c0001t0004g0095
 3 HG03209.hp1
HG03516.hp1
NA18522.hp1
HG03209.hp1
HG03516.hp1
NA18522.hp1
 intron_variant MODIFIER c.155-25372C>T
c.155-25372C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68324468
chrX:68324479 G
G
 A
A
 1 a0001c0001t0020g0099
a0001c0001t0020g0099
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.155-25383C>T
c.155-25383C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68324479
chrX:68324604 AC
AC
 A
A
 1 a0001c0001t0001g0029
a0001c0001t0001g0029
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.155-25509delG
c.155-25509delG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68324604
chrX:68324613 C
C
 CA
CA
 6 a0001c0001t0001g0009
a0001c0001t0001g0062
a0001c0001t0003g0122
others(3): Show 
a0001c0001t0001g0009
a0001c0001t0001g0062
a0001c0001t0003g0122
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0023g0037
 6 HG02647.hp1
HG02886.hp2
HG04115.hp1
others(3): Show 
HG02647.hp1
HG02886.hp2
HG04115.hp1
NA18995.hp1
NA19009.hp1
NA19043.hp1
 intron_variant MODIFIER c.155-25518dupT
c.155-25518dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68324613
chrX:68324613 CA
CA
 C
C
 5 a0001c0001t0001g0029
a0001c0001t0001g0075
a0001c0001t0002g0054
others(2): Show 
a0001c0001t0001g0029
a0001c0001t0001g0075
a0001c0001t0002g0054
a0001c0001t0004g0010
a0001c0001t0004g0026
 5 HG02451.hp2
NA18906.hp1
NA18977.hp1
others(2): Show 
HG02451.hp2
NA18906.hp1
NA18977.hp1
NA18986.hp1
NA18988.hp1
 intron_variant MODIFIER c.155-25518delT
c.155-25518delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68324613
chrX:68324614 A
A
 AG
AG
 16 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(13): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0008g0112
a0001c0001t0030g0155
 16 HG01891.hp2
HG02486.hp1
HG02572.hp1
others(13): Show 
HG01891.hp2
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.155-25519_155-2551
others(5): Show 
c.155-25519_155-25518insC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68324614
chrX:68324615 A
A
 G
G
 5 a0001c0001t0004g0004
a0001c0001t0006g0013
a0001c0001t0007g0032
others(2): Show 
a0001c0001t0004g0004
a0001c0001t0006g0013
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0019g0003
 5 HG02109.hp1
HG02257.hp1
HG02630.hp1
others(2): Show 
HG02109.hp1
HG02257.hp1
HG02630.hp1
HG02809.hp2
HG03130.hp1
 intron_variant MODIFIER c.155-25519T>C
c.155-25519T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68324615
chrX:68324628 AT
AT
 A
A
 5 a0001c0001t0002g0133
a0001c0001t0006g0013
a0001c0001t0007g0022
others(2): Show 
a0001c0001t0002g0133
a0001c0001t0006g0013
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
 5 HG01891.hp1
HG02559.hp1
HG02630.hp1
others(2): Show 
HG01891.hp1
HG02559.hp1
HG02630.hp1
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.155-25533delA
c.155-25533delA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68324628
chrX:68324629 T
T
 A
A
 57 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(54): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0030g0155
 57 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(54): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG01891.hp2
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp2
NA18944.hp1
NA18966.hp1
NA19043.hp1
 intron_variant MODIFIER c.155-25533A>T
c.155-25533A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68324629
chrX:68324763 TG
TG
 T
T
 1 a0001c0001t0002g0054
a0001c0001t0002g0054
 1 NA18986.hp1
NA18986.hp1
 intron_variant MODIFIER c.155-25668delC
c.155-25668delC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68324763
chrX:68324884 T
T
 TA
TA
 64 a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0038
others(61): Show 
a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0038
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0048
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0076
a0001c0001t0003g0091
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0030g0155
 64 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(61): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG02071.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03942.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp2
NA18944.hp1
NA18966.hp1
NA19043.hp1
NA19085.hp1
 intron_variant MODIFIER c.155-25789dupT
c.155-25789dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68324884
chrX:68324884 T
T
 TAA
TAA
 2 a0001c0001t0002g0126
a0001c0001t0023g0037
a0001c0001t0002g0126
a0001c0001t0023g0037
 2 HG03225.hp1
HG04115.hp1
HG03225.hp1
HG04115.hp1
 intron_variant MODIFIER c.155-25790_155-2578
others(6): Show 
c.155-25790_155-25789dupTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68324884
chrX:68324884 T
T
 TAAA
TAAA
 3 a0001c0001t0001g0029
a0001c0001t0007g0022
a0001c0001t0007g0033
a0001c0001t0001g0029
a0001c0001t0007g0022
a0001c0001t0007g0033
 3 NA18988.hp1
NA19030.hp1
NA19030.hp2
NA18988.hp1
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.155-25791_155-2578
others(7): Show 
c.155-25791_155-25789dupTTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68324884
chrX:68324884 TA
TA
 T
T
 3 a0001c0001t0001g0092
a0001c0003t0010g0085
a0004c0005t0012g0024
a0001c0001t0001g0092
a0001c0003t0010g0085
a0004c0005t0012g0024
 3 HG01169.hp2
HG02735.hp1
NA18960.hp1
HG01169.hp2
HG02735.hp1
NA18960.hp1
 intron_variant MODIFIER c.155-25789delT
c.155-25789delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68324884
chrX:68324915 G
G
 C
C
 1 a0001c0001t0006g0013
a0001c0001t0006g0013
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.155-25819C>G
c.155-25819C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68324915
chrX:68324941 C
C
 T
T
 24 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(21): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0019g0003
a0001c0001t0030g0155
 24 HG01891.hp2
HG02109.hp1
HG02257.hp1
others(21): Show 
HG01891.hp2
HG02109.hp1
HG02257.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-25845G>A
c.155-25845G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68324941
chrX:68324957 C
C
 G
G
 24 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(21): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0019g0003
a0001c0001t0030g0155
 24 HG01891.hp2
HG02109.hp1
HG02257.hp1
others(21): Show 
HG01891.hp2
HG02109.hp1
HG02257.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-25861G>C
c.155-25861G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68324957
chrX:68324958 G
G
 A
A
 2 a0001c0001t0001g0046
a0004c0005t0012g0024
a0001c0001t0001g0046
a0004c0005t0012g0024
 2 HG01169.hp2
HG01928.hp1
HG01169.hp2
HG01928.hp1
 intron_variant MODIFIER c.155-25862C>T
c.155-25862C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68324958
chrX:68324975 TG
TG
 T
T
 1 a0001c0001t0001g0029
a0001c0001t0001g0029
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.155-25880delC
c.155-25880delC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68324975
chrX:68325052 TA
TA
 T
T
 1 a0001c0001t0002g0054
a0001c0001t0002g0054
 1 NA18986.hp1
NA18986.hp1
 intron_variant MODIFIER c.155-25957delT
c.155-25957delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325052
chrX:68325135 T
T
 TG
TG
 1 a0001c0001t0003g0076
a0001c0001t0003g0076
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.155-26040dupC
c.155-26040dupC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325135
chrX:68325159 T
T
 C
C
 5 a0001c0001t0002g0021
a0001c0001t0002g0133
a0001c0001t0007g0022
others(2): Show 
a0001c0001t0002g0021
a0001c0001t0002g0133
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
 5 HG01891.hp1
HG02257.hp2
HG02559.hp1
others(2): Show 
HG01891.hp1
HG02257.hp2
HG02559.hp1
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.155-26063A>G
c.155-26063A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325159
chrX:68325219 C
C
 T
T
 2 a0001c0001t0007g0022
a0001c0001t0007g0033
a0001c0001t0007g0022
a0001c0001t0007g0033
 2 NA19030.hp1
NA19030.hp2
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.155-26123G>A
c.155-26123G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325219
chrX:68325255 G
G
 GA
GA
 1 a0001c0001t0003g0076
a0001c0001t0003g0076
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.155-26160dupT
c.155-26160dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325255
chrX:68325338 C
C
 CG
CG
 1 a0001c0001t0001g0025
a0001c0001t0001g0025
 1 HG01515.hp1
HG01515.hp1
 intron_variant MODIFIER c.155-26243dupC
c.155-26243dupC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325338
chrX:68325417 G
G
 GACACAGG
others(14): Show 
GACACAGGAAACATCACAAACT
 1 a0001c0001t0001g0025
a0001c0001t0001g0025
 1 HG01515.hp1
HG01515.hp1
 intron_variant MODIFIER c.155-26342_155-2632
others(25): Show 
c.155-26342_155-26322dupAGTTTGTGATGTTTCCTGTGT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325417
chrX:68325442 GA
GA
 G
G
 1 a0001c0001t0001g0029
a0001c0001t0001g0029
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.155-26347delT
c.155-26347delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325442
chrX:68325504 AGATGTCT
others(50): Show 
AGATGTCTATCTCATACCATACACAAAAATAAAACTACATGGATTATAAT
CTAAATGT
 A
A
 1 a0001c0001t0002g0006
a0001c0001t0002g0006
 1 HG02074.hp1
HG02074.hp1
 intron_variant MODIFIER c.155-26465_155-2640
others(61): Show 
c.155-26465_155-26409delACATTTAGATTATAATCCATGTAGTT
TTATTTTTGTGTATGGTATGAGATAGACATC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325504
chrX:68325581 CTTTTGGA
others(2238): Show 
CTTTTGGATAAAGACCACAGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCC
CTCTCCCGTTTCCCTCTCCCGTTTCCGTTTCCCTTTCCGTTTCCCTTTTC
CTTTCCCGTTTTCCTTATCCGTTTCCGTTTTCCTTTTCCTTTTCCGTTTT
CCATTTCCTTTTCCATTATCCATATCCTTGTCCGGTGTCCTTTTCCGTGT
CCGGTATCCTTCTCCTTTTCCCGTATCCTTGTCCATGTCCCGTGTCCATG
TCCAGTGTCCATATCCATCTCCCGTCTCCATATCCATCTCCAGTCTCCGT
GTCCATCTCCCGTGTCCATCTCCCTCTCATGCCGAGCCAAAGCTGGACGG
TACTGCTGCCATCTCGGCTCACTGCAACCTCCCTGCCTGATTCTCCTGCC
TCAGCCTGCTGAGTGCCTGCGATTGCAGGCGCGCGCCGCCACGCCTGACT
GGTTTTCGTTTTTTTTTGGTGGAGATGGGGTTTCGCTGTGTTGGCCGGGC
TGGTCTCCAGCTCCTAACCGCGAGTGATCCGCCAGCCTCGGCCTCCCGAG
GTGCCGGGATTGCAGATGGAGTCTCGTTCACTCAGTGCTCAATGGTGCCC
AGGCTGGAGTGCAGTGGCGTGATCTCGGCTCGCTACAACCACCTCCCAGC
CGCCTGCCTTGGCCTCCCAAAGAGCCGAGATTGCAGCCTCTGCCCGGCCG
CCACCCCGTCTGGGAAGTGAGGAGCGTCTCTGCTTGGCCACCCATCGTCT
GGGATATGAGGAGCCCCTCTGCCTGGCTGCCCAGTGTGGAAAGTGAGGAG
CGTCTCTGCCCGGCCGCCATCCCGTCTAGGAAGCGAGAAGCGCCTCTTCC
CCGCCGCCATCCCATCTAGGAAGTGAGGAGCGTCTCTGCCCGGCCGCCCA
TCGTCTGAGATGTGGGGAGCACCTCTGCCCCACCGCCCTGTCTGGGATGT
GAGGAGCGCCTCTGCTGGGCCGCAACCCTGTCTGGGAGGTGAGGAGTGTC
TCTGCCCGGCCGCTCCGTCTGAGAAGTGAGGAAACCCTCTGCCTGGCAAC
CGCCCGTCTGAGAAGTGAGGAGCCCTCCGTCTGGCAACCACCCCGTCTGG
GAAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCCGTCCGGGAAGGACGGT
GGGGGGATCAGCCCCTGCCTGGCCAGGCGCCCCGTCCGGAGGTGAGGGGG
CCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCA
GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCA
GCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCTGCCTGGCCAG
CCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGG
GAAGTGAGGACCCCTCTGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTG
GGGGGAACAGCCCCCGCCCGGCCAGCCGCCCTATCCAGGAGGTGAGGGGC
GCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGC
CAGCCGCCCGTCCGGGAGGGCGGTGGGGGGGTCAGCCCCCCGCCCGGCCA
GCCGCCCCATCTGGGAGGTGAGGGGCACTTCTGCCGGGCCGCCCCTACTG
GGAAGTGAGGAGCCCCTCTGCCCGGCCACGACCCCGTCTGGGAGGTGTGC
CCAGCGGCTCATTGGGGATGGGCCATGATGACAATGGCGGTTTTGTGGAA
TAGAAAGGCGGGAAGGGTGGGGAAAAAATTGAGAAATCGGATGGTTGCTG
GGTCTGTGTGGATAGAAGTAGACATGGGAGACTTTTCATTTTGTTCTGTA
CTAAGAAAAATTCTTCTGCCTTGGGATCCTGTTGATCTGTGACCTTATCC
CCAACCCTGTGCTCTCTGAGACATGTGCTGTGTCCACTCAGGGTTAGATG
GATTAAGGGCGGTGCAAGATGTGCTTTGTTGAACAGATGCTTGAGGGCAG
CATGCTCGTTGAGAGTCATCACCACTCCCTAATCTTAAGTACCCAGGGAC
ACAAACGCTGCGGAAGGCCGCAGGGTCCTCTGCCTAGGAAAACCAGAGAC
CTTTGTTCACTTGTTTATCTGCTGACCTTCCCTCCACTATTGTCCTATGA
CCCTGCCAAATCCCCCTCTGCGAGAAACACCCAAGAATGATCAATAAAAA
TAAAAAATAAAAAAAATAAAAAAAAAAAAAAAAAAAATTTTAAACT
 C
C
 24 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(21): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0019g0003
a0001c0001t0030g0155
 24 HG01891.hp2
HG02109.hp1
HG02257.hp1
others(21): Show 
HG01891.hp2
HG02109.hp1
HG02257.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-28730_155-2648
others(4): Show 
c.155-28730_155-26486del
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325581
chrX:68325599 A
A
 AGTCTCCC
others(94): Show 
AGTCTCCCTCTCCCCTCTCCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTC
TCCCGTCTCCCCTCTCCCTCTCACCCGTCTCCCGTCTCCCTCTCCCTCTC
CC
 1 a0001c0003t0010g0085
a0001c0003t0010g0085
 1 HG02735.hp1
HG02735.hp1
 intron_variant MODIFIER c.155-26504_155-2650
others(105): Show 
c.155-26504_155-26503insGGGAGAGGGAGAGGGAGACGGGAGAC
GGGTGAGAGGGAGAGGGGAGACGGGAGAGGGAGACGGGAGAGGGAGAGGG
AGACGGGGAGAGGGGAGAGGGAGAC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325599
chrX:68325600 G
G
 GTCTCCC
GTCTCCC
 1 a0001c0001t0003g0076
a0001c0001t0003g0076
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.155-26510_155-2650
others(10): Show 
c.155-26510_155-26505dupGGGAGA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325600
chrX:68325611 C
C
 CCT
CCT
 1 a0001c0001t0001g0041
a0001c0001t0001g0041
 1 NA19007.hp1
NA19007.hp1
 intron_variant MODIFIER c.155-26517_155-2651
others(6): Show 
c.155-26517_155-26516dupAG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325611
chrX:68325611 C
C
 CT
CT
 1 a0001c0001t0002g0006
a0001c0001t0002g0006
 1 HG02074.hp1
HG02074.hp1
 intron_variant MODIFIER c.155-26516_155-2651
others(5): Show 
c.155-26516_155-26515insA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325611
chrX:68325611 CCT
CCT
 C
C
 1 a0001c0001t0001g0025
a0001c0001t0001g0025
 1 HG01515.hp1
HG01515.hp1
 intron_variant MODIFIER c.155-26517_155-2651
others(6): Show 
c.155-26517_155-26516delAG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325611
chrX:68325615 T
T
 TC
TC
 1 a0001c0001t0002g0006
a0001c0001t0002g0006
 1 HG02074.hp1
HG02074.hp1
 intron_variant MODIFIER c.155-26520dupG
c.155-26520dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325615
chrX:68325615 T
T
 TCTC
TCTC
 1 a0001c0001t0001g0029
a0001c0001t0001g0029
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.155-26520_155-2651
others(7): Show 
c.155-26520_155-26519insGAG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325615
chrX:68325620 T
T
 TCG
TCG
 1 a0001c0001t0001g0027
a0001c0001t0001g0027
 1 NA18994.hp1
NA18994.hp1
 intron_variant MODIFIER c.155-26525_155-2652
others(6): Show 
c.155-26525_155-26524insCG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325620
chrX:68325622 T
T
 TC
TC
 1 a0001c0001t0001g0075
a0001c0001t0001g0075
 1 NA18977.hp1
NA18977.hp1
 intron_variant MODIFIER c.155-26527dupG
c.155-26527dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325622
chrX:68325623 C
C
 CCCT
CCCT
 1 a0001c0001t0002g0006
a0001c0001t0002g0006
 1 HG02074.hp1
HG02074.hp1
 intron_variant MODIFIER c.155-26530_155-2652
others(7): Show 
c.155-26530_155-26528dupAGG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325623
chrX:68325633 CT
CT
 C
C
 1 a0001c0001t0001g0029
a0001c0001t0001g0029
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.155-26538delA
c.155-26538delA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325633
chrX:68325634 T
T
 TC
TC
 1 a0001c0001t0001g0027
a0001c0001t0001g0027
 1 NA18994.hp1
NA18994.hp1
 intron_variant MODIFIER c.155-26539dupG
c.155-26539dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325634
chrX:68325639 T
T
 TC
TC
 1 a0001c0001t0002g0115
a0001c0001t0002g0115
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.155-26544_155-2654
others(5): Show 
c.155-26544_155-26543insG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325639
chrX:68325639 T
T
 TCTC
TCTC
 1 a0001c0001t0002g0006
a0001c0001t0002g0006
 1 HG02074.hp1
HG02074.hp1
 intron_variant MODIFIER c.155-26544_155-2654
others(7): Show 
c.155-26544_155-26543insGAG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325639
chrX:68325640 T
T
 C
C
 128 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(125): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 128 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(125): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02922.hp2
HG02976.hp1
HG03017.hp1
HG03209.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-26544A>G
c.155-26544A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325640
chrX:68325641 T
T
 C
C
 2 a0001c0001t0002g0006
a0001c0001t0002g0115
a0001c0001t0002g0006
a0001c0001t0002g0115
 2 HG02074.hp1
HG02145.hp1
HG02074.hp1
HG02145.hp1
 intron_variant MODIFIER c.155-26545A>G
c.155-26545A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325641
chrX:68325644 C
C
 G
G
 1 a0001c0001t0002g0006
a0001c0001t0002g0006
 1 HG02074.hp1
HG02074.hp1
 intron_variant MODIFIER c.155-26548G>C
c.155-26548G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325644
chrX:68325648 CCCGTTTC
others(24): Show 
CCCGTTTCCGTTTCCCTTTCCGTTTCCCTTTT
 C
C
 1 a0001c0001t0001g0075
a0001c0001t0001g0075
 1 NA18977.hp1
NA18977.hp1
 intron_variant MODIFIER c.155-26583_155-2655
others(35): Show 
c.155-26583_155-26553delAAAAGGGAAACGGAAAGGGAAACGGA
AACGG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325648
chrX:68325651 G
G
 T
T
 2 a0001c0001t0002g0057
a0001c0003t0010g0085
a0001c0001t0002g0057
a0001c0003t0010g0085
 2 HG02735.hp1
NA19012.hp1
HG02735.hp1
NA19012.hp1
 intron_variant MODIFIER c.155-26555C>A
c.155-26555C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325651
chrX:68325652 T
T
 C
C
 2 a0001c0001t0002g0057
a0001c0003t0010g0085
a0001c0001t0002g0057
a0001c0003t0010g0085
 2 HG02735.hp1
NA19012.hp1
HG02735.hp1
NA19012.hp1
 intron_variant MODIFIER c.155-26556A>G
c.155-26556A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325652
chrX:68325653 T
T
 C
C
 127 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(124): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 127 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(124): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02922.hp2
HG02976.hp1
HG03017.hp1
HG03209.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-26557A>G
c.155-26557A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325653
chrX:68325654 T
T
 C
C
 2 a0001c0001t0002g0057
a0001c0003t0010g0085
a0001c0001t0002g0057
a0001c0003t0010g0085
 2 HG02735.hp1
NA19012.hp1
HG02735.hp1
NA19012.hp1
 intron_variant MODIFIER c.155-26558A>G
c.155-26558A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325654
chrX:68325657 G
G
 C
C
 127 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(124): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 127 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(124): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02922.hp2
HG02976.hp1
HG03017.hp1
HG03209.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-26561C>G
c.155-26561C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325657
chrX:68325659 T
T
 C
C
 129 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(126): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 129 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(126): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02922.hp2
HG02976.hp1
HG03017.hp1
HG03209.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-26563A>G
c.155-26563A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325659
chrX:68325663 CTTTCCGT
others(107): Show 
CTTTCCGTTTCCCTTTTCCTTTCCCGTTTTCCTTATCCGTTTCCGTTTTC
CTTTTCCTTTTCCGTTTTCCATTTCCTTTTCCATTATCCATATCCTTGTC
CGGTGTCCTTTTCCG
 C
C
 1 a0001c0001t0020g0099
a0001c0001t0020g0099
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.155-26681_155-2656
others(4): Show 
c.155-26681_155-26568del
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325663
chrX:68325663 CTTTCCGT
others(158): Show 
CTTTCCGTTTCCCTTTTCCTTTCCCGTTTTCCTTATCCGTTTCCGTTTTC
CTTTTCCTTTTCCGTTTTCCATTTCCTTTTCCATTATCCATATCCTTGTC
CGGTGTCCTTTTCCGTGTCCGGTATCCTTCTCCTTTTCCCGTATCCTTGT
CCATGTCCCGTGTCCA
 C
C
 1 a0001c0001t0003g0020
a0001c0001t0003g0020
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.155-26732_155-2656
others(4): Show 
c.155-26732_155-26568del
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325663
chrX:68325664 T
T
 TC
TC
 124 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(121): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 124 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(121): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02818.hp1
HG02886.hp1
HG02922.hp2
HG02976.hp1
HG03017.hp1
HG03209.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-26569_155-2656
others(5): Show 
c.155-26569_155-26568insG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325664
chrX:68325664 T
T
 TCTCCCTC
TCTCCCTC
 2 a0001c0001t0002g0006
a0001c0003t0010g0085
a0001c0001t0002g0006
a0001c0003t0010g0085
 2 HG02074.hp1
HG02735.hp1
HG02074.hp1
HG02735.hp1
 intron_variant MODIFIER c.155-26569_155-2656
others(11): Show 
c.155-26569_155-26568insGAGGGAG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325664
chrX:68325665 T
T
 C
C
 1 a0001c0001t0002g0057
a0001c0001t0002g0057
 1 NA19012.hp1
NA19012.hp1
 intron_variant MODIFIER c.155-26569A>G
c.155-26569A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325665
chrX:68325666 T
T
 C
C
 126 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(123): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 126 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(123): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02818.hp1
HG02886.hp1
HG02922.hp2
HG02976.hp1
HG03017.hp1
HG03209.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-26570A>G
c.155-26570A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325666
chrX:68325669 G
G
 C
C
 1 a0001c0001t0002g0057
a0001c0001t0002g0057
 1 NA19012.hp1
NA19012.hp1
 intron_variant MODIFIER c.155-26573C>G
c.155-26573C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325669
chrX:68325670 T
T
 TC
TC
 1 a0001c0001t0001g0098
a0001c0001t0001g0098
 1 NA18955.hp1
NA18955.hp1
 intron_variant MODIFIER c.155-26575_155-2657
others(5): Show 
c.155-26575_155-26574insG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325670
chrX:68325671 T
T
 C
C
 126 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(123): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 126 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(123): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02818.hp1
HG02886.hp1
HG02922.hp2
HG02976.hp1
HG03017.hp1
HG03209.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-26575A>G
c.155-26575A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325671
chrX:68325672 T
T
 C
C
 1 a0001c0001t0001g0098
a0001c0001t0001g0098
 1 NA18955.hp1
NA18955.hp1
 intron_variant MODIFIER c.155-26576A>G
c.155-26576A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325672
chrX:68325673 CCCTTTTC
others(24): Show 
CCCTTTTCCTTTCCCGTTTTCCTTATCCGTTT
 C
C
 1 a0001c0001t0002g0057
a0001c0001t0002g0057
 1 NA19012.hp1
NA19012.hp1
 intron_variant MODIFIER c.155-26608_155-2657
others(35): Show 
c.155-26608_155-26578delAAACGGATAAGGAAAACGGGAAAGGA
AAAGG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325673
chrX:68325677 T
T
 C
C
 126 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(123): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 126 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(123): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02818.hp1
HG02886.hp1
HG02922.hp2
HG02976.hp1
HG03017.hp1
HG03209.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-26581A>G
c.155-26581A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325677
chrX:68325679 T
T
 C
C
 126 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(123): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 126 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(123): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02818.hp1
HG02886.hp1
HG02922.hp2
HG02976.hp1
HG03017.hp1
HG03209.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-26583A>G
c.155-26583A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325679
chrX:68325683 T
T
 C
C
 127 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(124): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 127 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(124): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02818.hp1
HG02886.hp1
HG02922.hp2
HG02976.hp1
HG03017.hp1
HG03209.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-26587A>G
c.155-26587A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325683
chrX:68325685 C
C
 CCCTCT
CCCTCT
 1 a0001c0001t0018g0104
a0001c0001t0018g0104
 1 HG00280.hp1
HG00280.hp1
 intron_variant MODIFIER c.155-26590_155-2658
others(9): Show 
c.155-26590_155-26589insAGAGG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325685
chrX:68325687 CGTTTTCC
others(70): Show 
CGTTTTCCTTATCCGTTTCCGTTTTCCTTTTCCTTTTCCGTTTTCCATTT
CCTTTTCCATTATCCATATCCTTGTCCG
 C
C
 29 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(26): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0022g0103
a0001c0001t0023g0037
 29 HG00642.hp1
HG01081.hp1
HG01243.hp1
others(26): Show 
HG00642.hp1
HG01081.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG01891.hp1
HG02071.hp1
HG02132.hp1
HG02258.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02818.hp1
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG04115.hp1
NA18612.hp1
NA18944.hp1
NA18966.hp1
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.155-26668_155-2659
others(81): Show 
c.155-26668_155-26592delCGGACAAGGATATGGATAATGGAAAA
GGAAATGGAAAACGGAAAAGGAAAAGGAAAACGGAAACGGATAAGGAAAA
C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325687
chrX:68325687 CGTTTTCC
others(89): Show 
CGTTTTCCTTATCCGTTTCCGTTTTCCTTTTCCTTTTCCGTTTTCCATTT
CCTTTTCCATTATCCATATCCTTGTCCGGTGTCCTTTTCCGTGTCCG
 C
C
 3 a0001c0001t0002g0021
a0001c0001t0003g0151
a0001c0001t0005g0152
a0001c0001t0002g0021
a0001c0001t0003g0151
a0001c0001t0005g0152
 3 HG02257.hp2
HG02630.hp2
NA18522.hp1
HG02257.hp2
HG02630.hp2
NA18522.hp1
 intron_variant MODIFIER c.155-26687_155-2659
others(100): Show 
c.155-26687_155-26592delCGGACACGGAAAAGGACACCGGACAA
GGATATGGATAATGGAAAAGGAAATGGAAAACGGAAAAGGAAAAGGAAAA
CGGAAACGGATAAGGAAAAC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325687
chrX:68325688 G
G
 C
C
 3 a0001c0001t0001g0027
a0001c0001t0002g0006
a0001c0001t0018g0104
a0001c0001t0001g0027
a0001c0001t0002g0006
a0001c0001t0018g0104
 3 HG00280.hp1
HG02074.hp1
NA18994.hp1
HG00280.hp1
HG02074.hp1
NA18994.hp1
 intron_variant MODIFIER c.155-26592C>G
c.155-26592C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325688
chrX:68325688 GT
GT
 G
G
 62 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
others(59): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0028
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0141
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0123
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0081
a0001c0001t0003g0100
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0017g0036
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0028g0084
a0001c0001t0029g0031
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 62 HG00140.hp1
HG00609.hp1
HG00621.hp1
others(59): Show 
HG00140.hp1
HG00609.hp1
HG00621.hp1
HG00673.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02083.hp1
HG02129.hp1
HG02300.hp1
HG02738.hp1
HG03492.hp1
HG03710.hp1
HG03942.hp1
HG04199.hp1
HG04228.hp1
NA18943.hp1
NA18945.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18990.hp1
NA19000.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-26593delA
c.155-26593delA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325688
chrX:68325688 GTTTTCCT
others(13): Show 
GTTTTCCTTATCCGTTTCCGT
 G
G
 5 a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0080
others(2): Show 
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0080
a0001c0001t0002g0115
a0001c0001t0027g0072
 5 HG00099.hp1
HG02145.hp1
HG03017.hp1
others(2): Show 
HG00099.hp1
HG02145.hp1
HG03017.hp1
NA18995.hp1
NA19004.hp1
 intron_variant MODIFIER c.155-26612_155-2659
others(24): Show 
c.155-26612_155-26593delACGGAAACGGATAAGGAAAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325688
chrX:68325688 GTTTTCCT
others(32): Show 
GTTTTCCTTATCCGTTTCCGTTTTCCTTTTCCTTTTCCGT
 G
G
 6 a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
others(3): Show 
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0021g0150
 6 HG01081.hp2
HG01167.hp1
HG01169.hp1
others(3): Show 
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG02055.hp1
HG03471.hp1
NA18906.hp1
 intron_variant MODIFIER c.155-26631_155-2659
others(43): Show 
c.155-26631_155-26593delACGGAAAAGGAAAAGGAAAACGGAAA
CGGATAAGGAAAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325688
chrX:68325688 GTTTTCCT
others(51): Show 
GTTTTCCTTATCCGTTTCCGTTTTCCTTTTCCTTTTCCGTTTTCCATTTC
CTTTTCCAT
 G
G
 2 a0001c0001t0003g0065
a0001c0001t0003g0091
a0001c0001t0003g0065
a0001c0001t0003g0091
 2 HG00099.hp2
HG02615.hp2
HG00099.hp2
HG02615.hp2
 intron_variant MODIFIER c.155-26650_155-2659
others(62): Show 
c.155-26650_155-26593delATGGAAAAGGAAATGGAAAACGGAAA
AGGAAAAGGAAAACGGAAACGGATAAGGAAAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325688
chrX:68325689 T
T
 G
G
 3 a0001c0001t0001g0027
a0001c0001t0002g0006
a0001c0001t0018g0104
a0001c0001t0001g0027
a0001c0001t0002g0006
a0001c0001t0018g0104
 3 HG00280.hp1
HG02074.hp1
NA18994.hp1
HG00280.hp1
HG02074.hp1
NA18994.hp1
 intron_variant MODIFIER c.155-26593A>C
c.155-26593A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325689
chrX:68325689 T
T
 TCC
TCC
 1 a0001c0003t0010g0085
a0001c0003t0010g0085
 1 HG02735.hp1
HG02735.hp1
 intron_variant MODIFIER c.155-26594_155-2659
others(6): Show 
c.155-26594_155-26593insGG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325689
chrX:68325689 T
T
 TCTCCCTC
others(11): Show 
TCTCCCTCTCCCTCTCCCG
 10 a0001c0001t0001g0039
a0001c0001t0001g0043
a0001c0001t0001g0052
others(7): Show 
a0001c0001t0001g0039
a0001c0001t0001g0043
a0001c0001t0001g0052
a0001c0001t0001g0097
a0001c0001t0002g0083
a0001c0001t0003g0101
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0003c0004t0014g0102
 10 HG02135.hp1
HG02280.hp2
HG02451.hp2
others(7): Show 
HG02135.hp1
HG02280.hp2
HG02451.hp2
HG02698.hp1
HG02723.hp1
HG02886.hp1
HG02922.hp2
NA18747.hp1
NA18948.hp1
NA18970.hp1
 intron_variant MODIFIER c.155-26594_155-2659
others(22): Show 
c.155-26594_155-26593insCGGGAGAGGGAGAGGGAG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325689
chrX:68325689 T
T
 TCTCCCTC
others(68): Show 
TCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCC
TCTCCCGTCTCCCTCTCCCTCTCCCG
 1 a0001c0003t0010g0089
a0001c0003t0010g0089
 1 HG03688.hp1
HG03688.hp1
 intron_variant MODIFIER c.155-26594_155-2659
others(79): Show 
c.155-26594_155-26593insCGGGAGAGGGAGAGGGAGACGGGAGA
GGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325689
chrX:68325690 T
T
 C
C
 6 a0001c0001t0001g0029
a0001c0001t0002g0019
a0001c0001t0003g0018
others(3): Show 
a0001c0001t0001g0029
a0001c0001t0002g0019
a0001c0001t0003g0018
a0001c0001t0003g0076
a0001c0001t0004g0005
a0001c0003t0010g0085
 6 HG00735.hp2
HG01192.hp1
HG02109.hp2
others(3): Show 
HG00735.hp2
HG01192.hp1
HG02109.hp2
HG02280.hp1
HG02735.hp1
NA18988.hp1
 intron_variant MODIFIER c.155-26594A>G
c.155-26594A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325690
chrX:68325691 T
T
 C
C
 77 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
others(74): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0141
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0083
a0001c0001t0002g0123
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0081
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 77 HG00140.hp1
HG00280.hp1
HG00609.hp1
others(74): Show 
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00673.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02074.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02922.hp2
HG03492.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18990.hp1
NA18994.hp1
NA19000.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-26595A>G
c.155-26595A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325691
chrX:68325691 TTCCTTAT
others(121): Show 
TTCCTTATCCGTTTCCGTTTTCCTTTTCCTTTTCCGTTTTCCATTTCCTT
TTCCATTATCCATATCCTTGTCCGGTGTCCTTTTCCGTGTCCGGTATCCT
TCTCCTTTTCCCGTATCCTTGTCCATGTC
 T
T
 3 a0001c0001t0002g0019
a0001c0001t0003g0018
a0001c0001t0004g0005
a0001c0001t0002g0019
a0001c0001t0003g0018
a0001c0001t0004g0005
 3 HG00735.hp2
HG02109.hp2
HG02280.hp1
HG00735.hp2
HG02109.hp2
HG02280.hp1
 intron_variant MODIFIER c.155-26723_155-2659
others(4): Show 
c.155-26723_155-26596del
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325691
chrX:68325692 T
T
 C
C
 2 a0001c0001t0001g0029
a0001c0001t0003g0076
a0001c0001t0001g0029
a0001c0001t0003g0076
 2 HG01192.hp1
NA18988.hp1
HG01192.hp1
NA18988.hp1
 intron_variant MODIFIER c.155-26596A>G
c.155-26596A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325692
chrX:68325694 CTTATCCG
others(9): Show 
CTTATCCGTTTCCGTTT
 C
C
 1 a0001c0001t0001g0029
a0001c0001t0001g0029
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.155-26614_155-2659
others(20): Show 
c.155-26614_155-26599delAAACGGAAACGGATAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325694
chrX:68325695 T
T
 C
C
 76 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
others(73): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0141
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0083
a0001c0001t0002g0123
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0081
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 76 HG00140.hp1
HG00280.hp1
HG00609.hp1
others(73): Show 
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00673.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02074.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02922.hp2
HG03492.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18990.hp1
NA18994.hp1
NA19000.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-26599A>G
c.155-26599A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325695
chrX:68325696 T
T
 C
C
 2 a0001c0001t0001g0075
a0001c0001t0003g0076
a0001c0001t0001g0075
a0001c0001t0003g0076
 2 HG01192.hp1
NA18977.hp1
HG01192.hp1
NA18977.hp1
 intron_variant MODIFIER c.155-26600A>G
c.155-26600A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325696
chrX:68325697 A
A
 C
C
 77 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
others(74): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0141
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0083
a0001c0001t0002g0123
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0081
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 77 HG00140.hp1
HG00280.hp1
HG00609.hp1
others(74): Show 
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00673.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02074.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02922.hp2
HG03492.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18990.hp1
NA18994.hp1
NA19000.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-26601T>G
c.155-26601T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325697
chrX:68325697 A
A
 T
T
 1 a0001c0001t0003g0076
a0001c0001t0003g0076
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.155-26601T>A
c.155-26601T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325697
chrX:68325698 T
T
 C
C
 1 a0001c0001t0003g0076
a0001c0001t0003g0076
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.155-26602A>G
c.155-26602A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325698
chrX:68325701 G
G
 C
C
 77 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
others(74): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0141
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0083
a0001c0001t0002g0123
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0081
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 77 HG00140.hp1
HG00280.hp1
HG00609.hp1
others(74): Show 
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00673.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02074.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02922.hp2
HG03492.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18990.hp1
NA18994.hp1
NA19000.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-26605C>G
c.155-26605C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325701
chrX:68325701 G
G
 T
T
 1 a0001c0001t0003g0076
a0001c0001t0003g0076
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.155-26605C>A
c.155-26605C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325701
chrX:68325702 T
T
 C
C
 1 a0001c0001t0003g0076
a0001c0001t0003g0076
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.155-26606A>G
c.155-26606A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325702
chrX:68325702 T
T
 TC
TC
 1 a0001c0001t0001g0027
a0001c0001t0001g0027
 1 NA18994.hp1
NA18994.hp1
 intron_variant MODIFIER c.155-26607_155-2660
others(5): Show 
c.155-26607_155-26606insG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325702
chrX:68325703 T
T
 C
C
 76 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
others(73): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0028
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0141
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0083
a0001c0001t0002g0123
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0081
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 76 HG00140.hp1
HG00280.hp1
HG00609.hp1
others(73): Show 
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00673.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02074.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02922.hp2
HG03492.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18990.hp1
NA19000.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-26607A>G
c.155-26607A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325703
chrX:68325704 T
T
 C
C
 2 a0001c0001t0001g0027
a0001c0001t0003g0076
a0001c0001t0001g0027
a0001c0001t0003g0076
 2 HG01192.hp1
NA18994.hp1
HG01192.hp1
NA18994.hp1
 intron_variant MODIFIER c.155-26608A>G
c.155-26608A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325704
chrX:68325707 G
G
 C
C
 75 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
others(72): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0028
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0141
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0083
a0001c0001t0002g0123
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0081
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 75 HG00140.hp1
HG00280.hp1
HG00609.hp1
others(72): Show 
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00673.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02922.hp2
HG03492.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18990.hp1
NA19000.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-26611C>G
c.155-26611C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325707
chrX:68325708 T
T
 G
G
 75 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
others(72): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0028
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0141
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0083
a0001c0001t0002g0123
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0081
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 75 HG00140.hp1
HG00280.hp1
HG00609.hp1
others(72): Show 
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00673.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02922.hp2
HG03492.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18990.hp1
NA19000.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-26612A>C
c.155-26612A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325708
chrX:68325709 T
T
 C
C
 4 a0001c0001t0001g0027
a0001c0001t0002g0006
a0001c0001t0002g0057
others(1): Show 
a0001c0001t0001g0027
a0001c0001t0002g0006
a0001c0001t0002g0057
a0001c0001t0003g0076
 4 HG01192.hp1
HG02074.hp1
NA18994.hp1
others(1): Show 
HG01192.hp1
HG02074.hp1
NA18994.hp1
NA19012.hp1
 intron_variant MODIFIER c.155-26613A>G
c.155-26613A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325709
chrX:68325710 T
T
 C
C
 80 a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
others(77): Show 
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0028
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0141
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0123
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0081
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 80 HG00099.hp1
HG00140.hp1
HG00280.hp1
others(77): Show 
HG00099.hp1
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00673.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02922.hp2
HG03017.hp1
HG03492.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18990.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-26614A>G
c.155-26614A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325710
chrX:68325711 T
T
 C
C
 4 a0001c0001t0001g0027
a0001c0001t0002g0006
a0001c0001t0002g0057
others(1): Show 
a0001c0001t0001g0027
a0001c0001t0002g0006
a0001c0001t0002g0057
a0001c0001t0003g0076
 4 HG01192.hp1
HG02074.hp1
NA18994.hp1
others(1): Show 
HG01192.hp1
HG02074.hp1
NA18994.hp1
NA19012.hp1
 intron_variant MODIFIER c.155-26615A>G
c.155-26615A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325711
chrX:68325713 CTTTT
CTTTT
 C
C
 1 a0001c0001t0001g0029
a0001c0001t0001g0029
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.155-26621_155-2661
others(8): Show 
c.155-26621_155-26618delAAAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325713
chrX:68325713 CTTTTCCT
others(7): Show 
CTTTTCCTTTTCCGT
 C
C
 1 a0001c0001t0003g0076
a0001c0001t0003g0076
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.155-26631_155-2661
others(18): Show 
c.155-26631_155-26618delACGGAAAAGGAAAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325713
chrX:68325714 T
T
 C
C
 80 a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
others(77): Show 
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0028
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0141
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0123
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0081
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 80 HG00099.hp1
HG00140.hp1
HG00280.hp1
others(77): Show 
HG00099.hp1
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00673.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02922.hp2
HG03017.hp1
HG03492.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18990.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-26618A>G
c.155-26618A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325714
chrX:68325714 T
T
 G
G
 1 a0001c0001t0002g0006
a0001c0001t0002g0006
 1 HG02074.hp1
HG02074.hp1
 intron_variant MODIFIER c.155-26618A>C
c.155-26618A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325714
chrX:68325715 T
T
 C
C
 2 a0001c0001t0001g0027
a0001c0001t0002g0057
a0001c0001t0001g0027
a0001c0001t0002g0057
 2 NA18994.hp1
NA19012.hp1
NA18994.hp1
NA19012.hp1
 intron_variant MODIFIER c.155-26619A>G
c.155-26619A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325715
chrX:68325716 T
T
 C
C
 81 a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
others(78): Show 
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0028
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0141
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0123
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0081
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 81 HG00099.hp1
HG00140.hp1
HG00280.hp1
others(78): Show 
HG00099.hp1
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00673.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02074.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02922.hp2
HG03017.hp1
HG03492.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18990.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-26620A>G
c.155-26620A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325716
chrX:68325717 T
T
 C
C
 2 a0001c0001t0001g0027
a0001c0001t0002g0057
a0001c0001t0001g0027
a0001c0001t0002g0057
 2 NA18994.hp1
NA19012.hp1
NA18994.hp1
NA19012.hp1
 intron_variant MODIFIER c.155-26621A>G
c.155-26621A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325717
chrX:68325717 T
T
 TCCCTCTC
others(1): Show 
TCCCTCTCC
 1 a0001c0001t0002g0006
a0001c0001t0002g0006
 1 HG02074.hp1
HG02074.hp1
 intron_variant MODIFIER c.155-26622_155-2662
others(12): Show 
c.155-26622_155-26621insGGAGAGGG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325717
chrX:68325720 T
T
 C
C
 80 a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
others(77): Show 
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0028
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0141
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0123
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0081
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 80 HG00099.hp1
HG00140.hp1
HG00280.hp1
others(77): Show 
HG00099.hp1
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00673.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02922.hp2
HG03017.hp1
HG03492.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18990.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-26624A>G
c.155-26624A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325720
chrX:68325721 T
T
 C
C
 4 a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0002g0006
others(1): Show 
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0002g0006
a0001c0001t0002g0057
 4 HG02074.hp1
NA18988.hp1
NA18994.hp1
others(1): Show 
HG02074.hp1
NA18988.hp1
NA18994.hp1
NA19012.hp1
 intron_variant MODIFIER c.155-26625A>G
c.155-26625A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325721
chrX:68325722 T
T
 C
C
 80 a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
others(77): Show 
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0028
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0141
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0123
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0081
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 80 HG00099.hp1
HG00140.hp1
HG00280.hp1
others(77): Show 
HG00099.hp1
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00673.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02922.hp2
HG03017.hp1
HG03492.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18990.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-26626A>G
c.155-26626A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325722
chrX:68325723 T
T
 C
C
 4 a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0002g0006
others(1): Show 
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0002g0006
a0001c0001t0002g0057
 4 HG02074.hp1
NA18988.hp1
NA18994.hp1
others(1): Show 
HG02074.hp1
NA18988.hp1
NA18994.hp1
NA19012.hp1
 intron_variant MODIFIER c.155-26627A>G
c.155-26627A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325723
chrX:68325726 G
G
 C
C
 80 a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
others(77): Show 
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0028
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0141
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0123
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0081
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 80 HG00099.hp1
HG00140.hp1
HG00280.hp1
others(77): Show 
HG00099.hp1
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00673.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02922.hp2
HG03017.hp1
HG03492.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18990.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-26630C>G
c.155-26630C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325726
chrX:68325726 GT
GT
 G
G
 2 a0001c0001t0001g0029
a0001c0001t0002g0057
a0001c0001t0001g0029
a0001c0001t0002g0057
 2 NA18988.hp1
NA19012.hp1
NA18988.hp1
NA19012.hp1
 intron_variant MODIFIER c.155-26631delA
c.155-26631delA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325726
chrX:68325727 T
T
 G
G
 80 a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
others(77): Show 
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0028
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0141
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0123
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0081
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 80 HG00099.hp1
HG00140.hp1
HG00280.hp1
others(77): Show 
HG00099.hp1
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00673.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02922.hp2
HG03017.hp1
HG03492.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18990.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-26631A>C
c.155-26631A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325727
chrX:68325728 T
T
 C
C
 2 a0001c0001t0001g0027
a0001c0001t0002g0006
a0001c0001t0001g0027
a0001c0001t0002g0006
 2 HG02074.hp1
NA18994.hp1
HG02074.hp1
NA18994.hp1
 intron_variant MODIFIER c.155-26632A>G
c.155-26632A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325728
chrX:68325729 T
T
 C
C
 89 a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
others(86): Show 
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0141
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0123
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0021g0150
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 89 HG00099.hp1
HG00140.hp1
HG00280.hp1
others(86): Show 
HG00099.hp1
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00673.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02922.hp2
HG03017.hp1
HG03471.hp1
HG03492.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-26633A>G
c.155-26633A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325729
chrX:68325730 T
T
 C
C
 2 a0001c0001t0001g0027
a0001c0001t0002g0006
a0001c0001t0001g0027
a0001c0001t0002g0006
 2 HG02074.hp1
NA18994.hp1
HG02074.hp1
NA18994.hp1
 intron_variant MODIFIER c.155-26634A>G
c.155-26634A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325730
chrX:68325733 A
A
 C
C
 89 a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
others(86): Show 
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0141
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0123
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0021g0150
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 89 HG00099.hp1
HG00140.hp1
HG00280.hp1
others(86): Show 
HG00099.hp1
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00673.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02922.hp2
HG03017.hp1
HG03471.hp1
HG03492.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-26637T>G
c.155-26637T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325733
chrX:68325733 A
A
 T
T
 2 a0001c0001t0001g0027
a0001c0001t0002g0006
a0001c0001t0001g0027
a0001c0001t0002g0006
 2 HG02074.hp1
NA18994.hp1
HG02074.hp1
NA18994.hp1
 intron_variant MODIFIER c.155-26637T>A
c.155-26637T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325733
chrX:68325734 T
T
 C
C
 2 a0001c0001t0001g0027
a0001c0001t0002g0006
a0001c0001t0001g0027
a0001c0001t0002g0006
 2 HG02074.hp1
NA18994.hp1
HG02074.hp1
NA18994.hp1
 intron_variant MODIFIER c.155-26638A>G
c.155-26638A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325734
chrX:68325735 T
T
 C
C
 89 a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
others(86): Show 
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0141
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0123
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0021g0150
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 89 HG00099.hp1
HG00140.hp1
HG00280.hp1
others(86): Show 
HG00099.hp1
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00673.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02922.hp2
HG03017.hp1
HG03471.hp1
HG03492.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-26639A>G
c.155-26639A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325735
chrX:68325736 T
T
 C
C
 2 a0001c0001t0001g0027
a0001c0001t0002g0006
a0001c0001t0001g0027
a0001c0001t0002g0006
 2 HG02074.hp1
NA18994.hp1
HG02074.hp1
NA18994.hp1
 intron_variant MODIFIER c.155-26640A>G
c.155-26640A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325736
chrX:68325739 T
T
 C
C
 90 a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
others(87): Show 
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0141
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0123
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0021g0150
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 90 HG00099.hp1
HG00140.hp1
HG00280.hp1
others(87): Show 
HG00099.hp1
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00673.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02074.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02922.hp2
HG03017.hp1
HG03471.hp1
HG03492.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-26643A>G
c.155-26643A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325739
chrX:68325740 T
T
 C
C
 1 a0001c0001t0001g0027
a0001c0001t0001g0027
 1 NA18994.hp1
NA18994.hp1
 intron_variant MODIFIER c.155-26644A>G
c.155-26644A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325740
chrX:68325741 T
T
 C
C
 90 a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
others(87): Show 
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0141
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0123
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0021g0150
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 90 HG00099.hp1
HG00140.hp1
HG00280.hp1
others(87): Show 
HG00099.hp1
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00673.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02074.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02922.hp2
HG03017.hp1
HG03471.hp1
HG03492.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-26645A>G
c.155-26645A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325741
chrX:68325742 T
T
 C
C
 1 a0001c0001t0001g0027
a0001c0001t0001g0027
 1 NA18994.hp1
NA18994.hp1
 intron_variant MODIFIER c.155-26646A>G
c.155-26646A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325742
chrX:68325745 A
A
 C
C
 91 a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
others(88): Show 
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0141
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0123
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0021g0150
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 91 HG00099.hp1
HG00140.hp1
HG00280.hp1
others(88): Show 
HG00099.hp1
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00673.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02074.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02922.hp2
HG03017.hp1
HG03471.hp1
HG03492.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-26649T>G
c.155-26649T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325745
chrX:68325746 T
T
 G
G
 91 a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
others(88): Show 
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0141
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0123
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0021g0150
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 91 HG00099.hp1
HG00140.hp1
HG00280.hp1
others(88): Show 
HG00099.hp1
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00673.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02074.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02922.hp2
HG03017.hp1
HG03471.hp1
HG03492.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-26650A>C
c.155-26650A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325746
chrX:68325748 A
A
 C
C
 93 a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
others(90): Show 
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0141
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0123
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0021g0150
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 93 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(90): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00673.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02074.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02615.hp2
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02922.hp2
HG03017.hp1
HG03471.hp1
HG03492.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-26652T>G
c.155-26652T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325748
chrX:68325752 A
A
 C
C
 93 a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
others(90): Show 
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0141
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0123
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0021g0150
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 93 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(90): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00673.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02074.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02615.hp2
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02922.hp2
HG03017.hp1
HG03471.hp1
HG03492.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-26656T>G
c.155-26656T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325752
chrX:68325754 A
A
 C
C
 93 a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
others(90): Show 
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0141
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0123
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0021g0150
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 93 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(90): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00673.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02074.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02615.hp2
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02922.hp2
HG03017.hp1
HG03471.hp1
HG03492.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-26658T>G
c.155-26658T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325754
chrX:68325758 T
T
 C
C
 93 a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
others(90): Show 
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0141
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0123
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0021g0150
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 93 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(90): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00673.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02074.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02615.hp2
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02922.hp2
HG03017.hp1
HG03471.hp1
HG03492.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-26662A>G
c.155-26662A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325758
chrX:68325760 G
G
 C
C
 93 a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
others(90): Show 
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0141
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0123
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0021g0150
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 93 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(90): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00673.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02074.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02615.hp2
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02922.hp2
HG03017.hp1
HG03471.hp1
HG03492.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-26664C>G
c.155-26664C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325760
chrX:68325764 G
G
 C
C
 93 a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
others(90): Show 
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0141
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0123
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0021g0150
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 93 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(90): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00673.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02074.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02615.hp2
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02922.hp2
HG03017.hp1
HG03471.hp1
HG03492.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-26668C>G
c.155-26668C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325764
chrX:68325767 G
G
 C
C
 122 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(119): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 122 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(119): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02258.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02818.hp1
HG02886.hp1
HG02922.hp2
HG02976.hp1
HG03017.hp1
HG03209.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-26671C>G
c.155-26671C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325767
chrX:68325771 T
T
 C
C
 122 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(119): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 122 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(119): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02258.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02818.hp1
HG02886.hp1
HG02922.hp2
HG02976.hp1
HG03017.hp1
HG03209.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-26675A>G
c.155-26675A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325771
chrX:68325773 T
T
 C
C
 122 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(119): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 122 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(119): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02258.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02818.hp1
HG02886.hp1
HG02922.hp2
HG02976.hp1
HG03017.hp1
HG03209.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-26677A>G
c.155-26677A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325773
chrX:68325777 G
G
 C
C
 122 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(119): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 122 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(119): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02258.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02818.hp1
HG02886.hp1
HG02922.hp2
HG02976.hp1
HG03017.hp1
HG03209.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-26681C>G
c.155-26681C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325777
chrX:68325779 G
G
 C
C
 123 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(120): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 123 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(120): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02258.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02818.hp1
HG02886.hp1
HG02922.hp2
HG02976.hp1
HG03017.hp1
HG03209.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-26683C>G
c.155-26683C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325779
chrX:68325780 T
T
 TC
TC
 2 a0001c0001t0002g0006
a0001c0001t0018g0104
a0001c0001t0002g0006
a0001c0001t0018g0104
 2 HG00280.hp1
HG02074.hp1
HG00280.hp1
HG02074.hp1
 intron_variant MODIFIER c.155-26685dupG
c.155-26685dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325780
chrX:68325783 G
G
 C
C
 123 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(120): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 123 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(120): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02258.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02818.hp1
HG02886.hp1
HG02922.hp2
HG02976.hp1
HG03017.hp1
HG03209.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-26687C>G
c.155-26687C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325783
chrX:68325786 A
A
 C
C
 126 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(123): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 126 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(123): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02818.hp1
HG02886.hp1
HG02922.hp2
HG02976.hp1
HG03017.hp1
HG03209.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-26690T>G
c.155-26690T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325786
chrX:68325787 T
T
 TC
TC
 1 a0001c0001t0001g0098
a0001c0001t0001g0098
 1 NA18955.hp1
NA18955.hp1
 intron_variant MODIFIER c.155-26692dupG
c.155-26692dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325787
chrX:68325790 T
T
 C
C
 126 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(123): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 126 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(123): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02818.hp1
HG02886.hp1
HG02922.hp2
HG02976.hp1
HG03017.hp1
HG03209.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-26694A>G
c.155-26694A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325790
chrX:68325796 T
T
 C
C
 126 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(123): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 126 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(123): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02818.hp1
HG02886.hp1
HG02922.hp2
HG02976.hp1
HG03017.hp1
HG03209.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-26700A>G
c.155-26700A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325796
chrX:68325798 T
T
 C
C
 126 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(123): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 126 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(123): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02818.hp1
HG02886.hp1
HG02922.hp2
HG02976.hp1
HG03017.hp1
HG03209.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-26702A>G
c.155-26702A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325798
chrX:68325802 C
C
 T
T
 3 a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0067
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0067
 3 HG02738.hp1
NA18945.hp1
NA18952.hp1
HG02738.hp1
NA18945.hp1
NA18952.hp1
 intron_variant MODIFIER c.155-26706G>A
c.155-26706G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325802
chrX:68325802 CG
CG
 C
C
 1 a0001c0001t0001g0058
a0001c0001t0001g0058
 1 HG02129.hp1
HG02129.hp1
 intron_variant MODIFIER c.155-26707delC
c.155-26707delC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325802
chrX:68325805 A
A
 C
C
 126 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(123): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 126 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(123): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02818.hp1
HG02886.hp1
HG02922.hp2
HG02976.hp1
HG03017.hp1
HG03209.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-26709T>G
c.155-26709T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325805
chrX:68325808 C
C
 CCG
CCG
 1 a0001c0001t0002g0006
a0001c0001t0002g0006
 1 HG02074.hp1
HG02074.hp1
 intron_variant MODIFIER c.155-26713_155-2671
others(6): Show 
c.155-26713_155-26712insCG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325808
chrX:68325809 T
T
 C
C
 125 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(122): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 125 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(122): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02818.hp1
HG02886.hp1
HG02922.hp2
HG02976.hp1
HG03017.hp1
HG03209.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-26713A>G
c.155-26713A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325809
chrX:68325810 T
T
 C
C
 1 a0001c0001t0002g0006
a0001c0001t0002g0006
 1 HG02074.hp1
HG02074.hp1
 intron_variant MODIFIER c.155-26714A>G
c.155-26714A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325810
chrX:68325811 G
G
 C
C
 126 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(123): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 126 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(123): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02818.hp1
HG02886.hp1
HG02922.hp2
HG02976.hp1
HG03017.hp1
HG03209.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-26715C>G
c.155-26715C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325811
chrX:68325812 T
T
 TC
TC
 1 a0001c0001t0002g0047
a0001c0001t0002g0047
 1 HG00673.hp1
HG00673.hp1
 intron_variant MODIFIER c.155-26717dupG
c.155-26717dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325812
chrX:68325814 C
C
 CCT
CCT
 1 a0001c0001t0002g0006
a0001c0001t0002g0006
 1 HG02074.hp1
HG02074.hp1
 intron_variant MODIFIER c.155-26719_155-2671
others(6): Show 
c.155-26719_155-26718insAG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325814
chrX:68325814 CA
CA
 C
C
 1 a0001c0001t0001g0058
a0001c0001t0001g0058
 1 HG02129.hp1
HG02129.hp1
 intron_variant MODIFIER c.155-26719delT
c.155-26719delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325814
chrX:68325815 A
A
 C
C
 125 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(122): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 125 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(122): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02818.hp1
HG02886.hp1
HG02922.hp2
HG02976.hp1
HG03017.hp1
HG03209.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-26719T>G
c.155-26719T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325815
chrX:68325816 T
T
 C
C
 1 a0001c0001t0001g0058
a0001c0001t0001g0058
 1 HG02129.hp1
HG02129.hp1
 intron_variant MODIFIER c.155-26720A>G
c.155-26720A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325816
chrX:68325817 G
G
 C
C
 125 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(122): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 125 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(122): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02818.hp1
HG02886.hp1
HG02922.hp2
HG02976.hp1
HG03017.hp1
HG03209.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-26721C>G
c.155-26721C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325817
chrX:68325818 T
T
 TC
TC
 2 a0001c0001t0001g0029
a0001c0001t0001g0098
a0001c0001t0001g0029
a0001c0001t0001g0098
 2 NA18955.hp1
NA18988.hp1
NA18955.hp1
NA18988.hp1
 intron_variant MODIFIER c.155-26723dupG
c.155-26723dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325818
chrX:68325819 C
C
 CT
CT
 1 a0001c0001t0001g0058
a0001c0001t0001g0058
 1 HG02129.hp1
HG02129.hp1
 intron_variant MODIFIER c.155-26724_155-2672
others(5): Show 
c.155-26724_155-26723insA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325819
chrX:68325820 CCGTGTCC
others(1): Show 
CCGTGTCCA
 C
C
 1 a0001c0001t0002g0054
a0001c0001t0002g0054
 1 NA18986.hp1
NA18986.hp1
 intron_variant MODIFIER c.155-26732_155-2672
others(12): Show 
c.155-26732_155-26725delTGGACACG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325820
chrX:68325821 CGTGTCCA
others(6): Show 
CGTGTCCATGTCCA
 C
C
 33 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(30): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0002g0021
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0091
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0022g0103
a0001c0001t0023g0037
 33 HG00099.hp2
HG00642.hp1
HG01081.hp1
others(30): Show 
HG00099.hp2
HG00642.hp1
HG01081.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG01891.hp1
HG02071.hp1
HG02132.hp1
HG02257.hp2
HG02258.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02818.hp1
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18944.hp1
NA18966.hp1
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.155-26738_155-2672
others(17): Show 
c.155-26738_155-26726delTGGACATGGACAC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325821
chrX:68325822 G
G
 C
C
 4 a0001c0001t0001g0058
a0001c0001t0002g0019
a0001c0001t0003g0018
others(1): Show 
a0001c0001t0001g0058
a0001c0001t0002g0019
a0001c0001t0003g0018
a0001c0001t0004g0005
 4 HG00735.hp2
HG02109.hp2
HG02129.hp1
others(1): Show 
HG00735.hp2
HG02109.hp2
HG02129.hp1
HG02280.hp1
 intron_variant MODIFIER c.155-26726C>G
c.155-26726C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325822
chrX:68325822 G
G
 GTCTCCCT
others(12): Show 
GTCTCCCTCTCCCGTCTCCC
 4 a0001c0001t0001g0025
a0001c0001t0001g0048
a0001c0001t0001g0064
others(1): Show 
a0001c0001t0001g0025
a0001c0001t0001g0048
a0001c0001t0001g0064
a0001c0001t0001g0067
 4 HG01515.hp1
HG02300.hp1
HG02738.hp1
others(1): Show 
HG01515.hp1
HG02300.hp1
HG02738.hp1
NA18952.hp1
 intron_variant MODIFIER c.155-26727_155-2672
others(23): Show 
c.155-26727_155-26726insGGGAGACGGGAGAGGGAGA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325822
chrX:68325824 G
G
 C
C
 95 a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
others(92): Show 
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0141
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0019
a0001c0001t0002g0047
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0123
a0001c0001t0003g0018
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 95 HG00099.hp1
HG00140.hp1
HG00280.hp1
others(92): Show 
HG00099.hp1
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02135.hp1
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02615.hp2
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02922.hp2
HG03017.hp1
HG03471.hp1
HG03492.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-26728C>G
c.155-26728C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325824
chrX:68325828 A
A
 C
C
 95 a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
others(92): Show 
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0141
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0019
a0001c0001t0002g0047
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0123
a0001c0001t0003g0018
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 95 HG00099.hp1
HG00140.hp1
HG00280.hp1
others(92): Show 
HG00099.hp1
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02135.hp1
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02615.hp2
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02922.hp2
HG03017.hp1
HG03471.hp1
HG03492.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-26732T>G
c.155-26732T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325828
chrX:68325830 G
G
 C
C
 97 a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
others(94): Show 
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0141
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0019
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0123
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 97 HG00099.hp1
HG00140.hp1
HG00280.hp1
others(94): Show 
HG00099.hp1
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02135.hp1
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02615.hp2
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02886.hp1
HG02922.hp2
HG03017.hp1
HG03471.hp1
HG03492.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-26734C>G
c.155-26734C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325830
chrX:68325833 CA
CA
 C
C
 1 a0001c0001t0002g0054
a0001c0001t0002g0054
 1 NA18986.hp1
NA18986.hp1
 intron_variant MODIFIER c.155-26738delT
c.155-26738delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325833
chrX:68325834 A
A
 C
C
 96 a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
others(93): Show 
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0141
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0019
a0001c0001t0002g0047
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0123
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 96 HG00099.hp1
HG00140.hp1
HG00280.hp1
others(93): Show 
HG00099.hp1
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02135.hp1
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02615.hp2
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02886.hp1
HG02922.hp2
HG03017.hp1
HG03471.hp1
HG03492.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-26738T>G
c.155-26738T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325834
chrX:68325835 G
G
 T
T
 2 a0001c0001t0001g0075
a0001c0001t0002g0057
a0001c0001t0001g0075
a0001c0001t0002g0057
 2 NA18977.hp1
NA19012.hp1
NA18977.hp1
NA19012.hp1
 intron_variant MODIFIER c.155-26739C>A
c.155-26739C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325835
chrX:68325836 T
T
 C
C
 2 a0001c0001t0001g0075
a0001c0001t0002g0057
a0001c0001t0001g0075
a0001c0001t0002g0057
 2 NA18977.hp1
NA19012.hp1
NA18977.hp1
NA19012.hp1
 intron_variant MODIFIER c.155-26740A>G
c.155-26740A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325836
chrX:68325837 G
G
 C
C
 128 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(125): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 128 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(125): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02922.hp2
HG02976.hp1
HG03017.hp1
HG03209.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-26741C>G
c.155-26741C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325837
chrX:68325837 G
G
 T
T
 2 a0001c0001t0001g0075
a0001c0001t0002g0057
a0001c0001t0001g0075
a0001c0001t0002g0057
 2 NA18977.hp1
NA19012.hp1
NA18977.hp1
NA19012.hp1
 intron_variant MODIFIER c.155-26741C>A
c.155-26741C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325837
chrX:68325838 T
T
 C
C
 2 a0001c0001t0001g0075
a0001c0001t0002g0057
a0001c0001t0001g0075
a0001c0001t0002g0057
 2 NA18977.hp1
NA19012.hp1
NA18977.hp1
NA19012.hp1
 intron_variant MODIFIER c.155-26742A>G
c.155-26742A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325838
chrX:68325841 A
A
 C
C
 128 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(125): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 128 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(125): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02922.hp2
HG02976.hp1
HG03017.hp1
HG03209.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-26745T>G
c.155-26745T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325841
chrX:68325841 A
A
 G
G
 2 a0001c0001t0001g0075
a0001c0001t0002g0057
a0001c0001t0001g0075
a0001c0001t0002g0057
 2 NA18977.hp1
NA19012.hp1
NA18977.hp1
NA19012.hp1
 intron_variant MODIFIER c.155-26745T>C
c.155-26745T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325841
chrX:68325843 A
A
 C
C
 130 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(127): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 130 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(127): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02922.hp2
HG02976.hp1
HG03017.hp1
HG03209.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-26747T>G
c.155-26747T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325843
chrX:68325847 A
A
 C
C
 130 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(127): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 130 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(127): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02922.hp2
HG02976.hp1
HG03017.hp1
HG03209.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-26751T>G
c.155-26751T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325847
chrX:68325854 G
G
 GTCTCCC
GTCTCCC
 1 a0001c0001t0001g0027
a0001c0001t0001g0027
 1 NA18994.hp1
NA18994.hp1
 intron_variant MODIFIER c.155-26759_155-2675
others(10): Show 
c.155-26759_155-26758insGGGAGA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325854
chrX:68325860 A
A
 C
C
 130 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(127): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 130 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(127): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02922.hp2
HG02976.hp1
HG03017.hp1
HG03209.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-26764T>G
c.155-26764T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325860
chrX:68325862 A
A
 C
C
 130 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(127): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 130 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(127): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02922.hp2
HG02976.hp1
HG03017.hp1
HG03209.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-26766T>G
c.155-26766T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325862
chrX:68325865 C
C
 CCT
CCT
 1 a0001c0001t0002g0057
a0001c0001t0002g0057
 1 NA19012.hp1
NA19012.hp1
 intron_variant MODIFIER c.155-26770_155-2676
others(6): Show 
c.155-26770_155-26769insAG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325865
chrX:68325866 A
A
 C
C
 130 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(127): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 130 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(127): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02922.hp2
HG02976.hp1
HG03017.hp1
HG03209.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-26770T>G
c.155-26770T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325866
chrX:68325872 A
A
 C
C
 130 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(127): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 130 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(127): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02922.hp2
HG02976.hp1
HG03017.hp1
HG03209.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-26776T>G
c.155-26776T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325872
chrX:68325876 T
T
 TC
TC
 1 a0001c0001t0001g0029
a0001c0001t0001g0029
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.155-26781dupG
c.155-26781dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325876
chrX:68325879 G
G
 C
C
 130 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(127): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 130 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(127): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02922.hp2
HG02976.hp1
HG03017.hp1
HG03209.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-26783C>G
c.155-26783C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325879
chrX:68325881 G
G
 C
C
 130 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(127): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 130 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(127): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02922.hp2
HG02976.hp1
HG03017.hp1
HG03209.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-26785C>G
c.155-26785C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325881
chrX:68325885 A
A
 C
C
 130 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(127): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 130 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(127): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02922.hp2
HG02976.hp1
HG03017.hp1
HG03209.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-26789T>G
c.155-26789T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325885
chrX:68325892 G
G
 GT
GT
 1 a0001c0001t0001g0029
a0001c0001t0001g0029
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.155-26797dupA
c.155-26797dupA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325892
chrX:68325894 G
G
 C
C
 130 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(127): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 130 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(127): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02922.hp2
HG02976.hp1
HG03017.hp1
HG03209.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-26798C>G
c.155-26798C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325894
chrX:68325895 T
T
 TTCCTC
TTCCTC
 1 a0001c0001t0002g0006
a0001c0001t0002g0006
 1 HG02074.hp1
HG02074.hp1
 intron_variant MODIFIER c.155-26800_155-2679
others(9): Show 
c.155-26800_155-26799insGAGGA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325895
chrX:68325898 A
A
 C
C
 130 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(127): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 130 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(127): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02922.hp2
HG02976.hp1
HG03017.hp1
HG03209.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-26802T>G
c.155-26802T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325898
chrX:68325918 C
C
 G
G
 2 a0001c0001t0002g0021
a0001c0001t0007g0023
a0001c0001t0002g0021
a0001c0001t0007g0023
 2 HG02257.hp2
HG02559.hp1
HG02257.hp2
HG02559.hp1
 intron_variant MODIFIER c.155-26822G>C
c.155-26822G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325918
chrX:68325919 A
A
 G
G
 2 a0001c0001t0002g0021
a0001c0001t0007g0023
a0001c0001t0002g0021
a0001c0001t0007g0023
 2 HG02257.hp2
HG02559.hp1
HG02257.hp2
HG02559.hp1
 intron_variant MODIFIER c.155-26823T>C
c.155-26823T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325919
chrX:68325921 A
A
 AGAGT
AGAGT
 1 a0001c0001t0002g0054
a0001c0001t0002g0054
 1 NA18986.hp1
NA18986.hp1
 intron_variant MODIFIER c.155-26826_155-2682
others(8): Show 
c.155-26826_155-26825insACTC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325921
chrX:68325933 C
C
 CT
CT
 2 a0001c0001t0001g0075
a0001c0001t0002g0006
a0001c0001t0001g0075
a0001c0001t0002g0006
 2 HG02074.hp1
NA18977.hp1
HG02074.hp1
NA18977.hp1
 intron_variant MODIFIER c.155-26838dupA
c.155-26838dupA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325933
chrX:68325934 T
T
 TC
TC
 1 a0001c0001t0001g0140
a0001c0001t0001g0140
 1 NA18966.hp1
NA18966.hp1
 intron_variant MODIFIER c.155-26839_155-2683
others(5): Show 
c.155-26839_155-26838insG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325934
chrX:68325960 T
T
 TC
TC
 1 a0001c0001t0001g0141
a0001c0001t0001g0141
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.155-26865dupG
c.155-26865dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325960
chrX:68325960 TC
TC
 T
T
 1 a0001c0001t0001g0029
a0001c0001t0001g0029
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.155-26865delG
c.155-26865delG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325960
chrX:68325990 T
T
 C
C
 39 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(36): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0097
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0023g0037
 39 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(36): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG01891.hp1
HG02071.hp1
HG02109.hp2
HG02132.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18944.hp1
NA18966.hp1
NA18970.hp1
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.155-26894A>G
c.155-26894A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325990
chrX:68325992 A
A
 AG
AG
 1 a0001c0001t0002g0006
a0001c0001t0002g0006
 1 HG02074.hp1
HG02074.hp1
 intron_variant MODIFIER c.155-26897dupC
c.155-26897dupC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325992
chrX:68325995 G
G
 GC
GC
 1 a0001c0001t0001g0098
a0001c0001t0001g0098
 1 NA18955.hp1
NA18955.hp1
 intron_variant MODIFIER c.155-26900dupG
c.155-26900dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325995
chrX:68325996 C
C
 T
T
 1 a0001c0001t0001g0097
a0001c0001t0001g0097
 1 NA18970.hp1
NA18970.hp1
 intron_variant MODIFIER c.155-26900G>A
c.155-26900G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68325996
chrX:68326018 G
G
 GC
GC
 1 a0001c0001t0001g0098
a0001c0001t0001g0098
 1 NA18955.hp1
NA18955.hp1
 intron_variant MODIFIER c.155-26923dupG
c.155-26923dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326018
chrX:68326038 G
G
 GT
GT
 12 a0001c0001t0001g0027
a0001c0001t0001g0079
a0001c0001t0001g0147
others(9): Show 
a0001c0001t0001g0027
a0001c0001t0001g0079
a0001c0001t0001g0147
a0001c0001t0002g0006
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0057
a0001c0001t0002g0123
a0001c0001t0002g0125
a0001c0001t0004g0034
a0001c0001t0013g0042
a0001c0001t0018g0104
 12 HG00280.hp1
HG00673.hp1
HG01255.hp1
others(9): Show 
HG00280.hp1
HG00673.hp1
HG01255.hp1
HG01346.hp2
HG01934.hp1
HG02027.hp1
HG02055.hp1
HG02074.hp1
HG02257.hp2
NA18994.hp1
NA19012.hp1
NA20752.hp1
 intron_variant MODIFIER c.155-26943dupA
c.155-26943dupA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326038
chrX:68326038 G
G
 GTA
GTA
 1 a0001c0001t0001g0098
a0001c0001t0001g0098
 1 NA18955.hp1
NA18955.hp1
 intron_variant MODIFIER c.155-26943_155-2694
others(6): Show 
c.155-26943_155-26942insTA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326038
chrX:68326040 T
T
 A
A
 1 a0001c0001t0001g0097
a0001c0001t0001g0097
 1 NA18970.hp1
NA18970.hp1
 intron_variant MODIFIER c.155-26944A>T
c.155-26944A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326040
chrX:68326048 G
G
 T
T
 1 a0001c0003t0010g0085
a0001c0003t0010g0085
 1 HG02735.hp1
HG02735.hp1
 intron_variant MODIFIER c.155-26952C>A
c.155-26952C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326048
chrX:68326049 G
G
 GT
GT
 1 a0001c0001t0001g0098
a0001c0001t0001g0098
 1 NA18955.hp1
NA18955.hp1
 intron_variant MODIFIER c.155-26954dupA
c.155-26954dupA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326049
chrX:68326124 T
T
 TC
TC
 1 a0001c0001t0001g0029
a0001c0001t0001g0029
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.155-27029dupG
c.155-27029dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326124
chrX:68326149 G
G
 A
A
 1 a0001c0001t0003g0076
a0001c0001t0003g0076
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.155-27053C>T
c.155-27053C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326149
chrX:68326160 A
A
 AC
AC
 1 a0001c0003t0010g0085
a0001c0003t0010g0085
 1 HG02735.hp1
HG02735.hp1
 intron_variant MODIFIER c.155-27065dupG
c.155-27065dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326160
chrX:68326161 C
C
 CG
CG
 1 a0001c0001t0001g0077
a0001c0001t0001g0077
 1 HG02071.hp1
HG02071.hp1
 intron_variant MODIFIER c.155-27066_155-2706
others(5): Show 
c.155-27066_155-27065insC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326161
chrX:68326218 A
A
 ACCT
ACCT
 3 a0001c0001t0002g0019
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0002g0019
a0001c0001t0003g0018
a0001c0001t0003g0020
 3 HG02109.hp2
HG02280.hp1
HG02809.hp1
HG02109.hp2
HG02280.hp1
HG02809.hp1
 intron_variant MODIFIER c.155-27123_155-2712
others(7): Show 
c.155-27123_155-27122insAGG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326218
chrX:68326246 C
C
 CT
CT
 1 a0001c0001t0001g0098
a0001c0001t0001g0098
 1 NA18955.hp1
NA18955.hp1
 intron_variant MODIFIER c.155-27151_155-2715
others(5): Show 
c.155-27151_155-27150insA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326246
chrX:68326253 A
A
 T
T
 3 a0001c0001t0002g0019
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0002g0019
a0001c0001t0003g0018
a0001c0001t0003g0020
 3 HG02109.hp2
HG02280.hp1
HG02809.hp1
HG02109.hp2
HG02280.hp1
HG02809.hp1
 intron_variant MODIFIER c.155-27157T>A
c.155-27157T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326253
chrX:68326266 G
G
 GC
GC
 1 a0001c0001t0002g0006
a0001c0001t0002g0006
 1 HG02074.hp1
HG02074.hp1
 intron_variant MODIFIER c.155-27171dupG
c.155-27171dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326266
chrX:68326277 G
G
 GC
GC
 1 a0001c0001t0004g0034
a0001c0001t0004g0034
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.155-27182dupG
c.155-27182dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326277
chrX:68326282 C
C
 CCA
CCA
 1 a0001c0001t0002g0006
a0001c0001t0002g0006
 1 HG02074.hp1
HG02074.hp1
 intron_variant MODIFIER c.155-27187_155-2718
others(6): Show 
c.155-27187_155-27186insTG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326282
chrX:68326283 A
A
 AC
AC
 25 a0001c0001t0001g0008
a0001c0001t0001g0028
a0001c0001t0001g0038
others(22): Show 
a0001c0001t0001g0008
a0001c0001t0001g0028
a0001c0001t0001g0038
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0077
a0001c0001t0001g0090
a0001c0001t0001g0149
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0057
a0001c0001t0002g0115
a0001c0001t0003g0020
a0001c0001t0003g0076
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0009g0129
a0001c0001t0021g0150
a0001c0001t0024g0007
a0001c0003t0010g0089
a0004c0005t0012g0024
 25 HG00621.hp1
HG00673.hp1
HG01081.hp2
others(22): Show 
HG00621.hp1
HG00673.hp1
HG01081.hp2
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01261.hp1
HG01346.hp1
HG01433.hp1
HG02015.hp1
HG02055.hp1
HG02071.hp1
HG02083.hp1
HG02109.hp2
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02602.hp1
HG02809.hp1
HG03471.hp1
HG03688.hp1
NA18906.hp1
NA19000.hp1
NA19012.hp1
NA20805.hp1
 intron_variant MODIFIER c.155-27188dupG
c.155-27188dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326283
chrX:68326283 A
A
 ACC
ACC
 2 a0001c0001t0007g0022
a0001c0001t0007g0033
a0001c0001t0007g0022
a0001c0001t0007g0033
 2 NA19030.hp1
NA19030.hp2
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.155-27189_155-2718
others(6): Show 
c.155-27189_155-27188dupGG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326283
chrX:68326283 A
A
 C
C
 1 a0001c0001t0002g0006
a0001c0001t0002g0006
 1 HG02074.hp1
HG02074.hp1
 intron_variant MODIFIER c.155-27187T>G
c.155-27187T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326283
chrX:68326283 ACC
ACC
 A
A
 1 a0001c0001t0002g0054
a0001c0001t0002g0054
 1 NA18986.hp1
NA18986.hp1
 intron_variant MODIFIER c.155-27189_155-2718
others(6): Show 
c.155-27189_155-27188delGG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326283
chrX:68326284 C
C
 CCA
CCA
 1 a0001c0001t0001g0066
a0001c0001t0001g0066
 1 NA18990.hp1
NA18990.hp1
 intron_variant MODIFIER c.155-27189_155-2718
others(6): Show 
c.155-27189_155-27188insTG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326284
chrX:68326291 T
T
 TCGC
TCGC
 1 a0001c0001t0002g0054
a0001c0001t0002g0054
 1 NA18986.hp1
NA18986.hp1
 intron_variant MODIFIER c.155-27196_155-2719
others(7): Show 
c.155-27196_155-27195insGCG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326291
chrX:68326292 G
G
 T
T
 1 a0001c0001t0002g0054
a0001c0001t0002g0054
 1 NA18986.hp1
NA18986.hp1
 intron_variant MODIFIER c.155-27196C>A
c.155-27196C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326292
chrX:68326320 AC
AC
 A
A
 1 a0001c0001t0001g0098
a0001c0001t0001g0098
 1 NA18955.hp1
NA18955.hp1
 intron_variant MODIFIER c.155-27225delG
c.155-27225delG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326320
chrX:68326343 G
G
 GC
GC
 1 a0001c0001t0001g0077
a0001c0001t0001g0077
 1 HG02071.hp1
HG02071.hp1
 intron_variant MODIFIER c.155-27248dupG
c.155-27248dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326343
chrX:68326388 G
G
 GC
GC
 1 a0001c0001t0001g0029
a0001c0001t0001g0029
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.155-27293dupG
c.155-27293dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326388
chrX:68326391 C
C
 CG
CG
 1 a0001c0001t0002g0006
a0001c0001t0002g0006
 1 HG02074.hp1
HG02074.hp1
 intron_variant MODIFIER c.155-27296dupC
c.155-27296dupC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326391
chrX:68326393 G
G
 GT
GT
 1 a0001c0001t0001g0077
a0001c0001t0001g0077
 1 HG02071.hp1
HG02071.hp1
 intron_variant MODIFIER c.155-27298_155-2729
others(5): Show 
c.155-27298_155-27297insA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326393
chrX:68326393 GC
GC
 G
G
 1 a0001c0001t0001g0141
a0001c0001t0001g0141
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.155-27298delG
c.155-27298delG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326393
chrX:68326400 T
T
 TC
TC
 1 a0001c0001t0002g0047
a0001c0001t0002g0047
 1 HG00673.hp1
HG00673.hp1
 intron_variant MODIFIER c.155-27305dupG
c.155-27305dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326400
chrX:68326404 G
G
 A
A
 45 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(42): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0115
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
 45 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(42): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG01891.hp1
HG02055.hp1
HG02071.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02976.hp1
HG03209.hp1
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18944.hp1
NA18966.hp1
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.155-27308C>T
c.155-27308C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326404
chrX:68326407 T
T
 TG
TG
 1 a0001c0001t0001g0029
a0001c0001t0001g0029
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.155-27312_155-2731
others(5): Show 
c.155-27312_155-27311insC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326407
chrX:68326414 C
C
 CGA
CGA
 1 a0001c0003t0010g0085
a0001c0003t0010g0085
 1 HG02735.hp1
HG02735.hp1
 intron_variant MODIFIER c.155-27320_155-2731
others(6): Show 
c.155-27320_155-27319dupTC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326414
chrX:68326428 T
T
 TC
TC
 2 a0001c0001t0001g0029
a0001c0001t0002g0006
a0001c0001t0001g0029
a0001c0001t0002g0006
 2 HG02074.hp1
NA18988.hp1
HG02074.hp1
NA18988.hp1
 intron_variant MODIFIER c.155-27333dupG
c.155-27333dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326428
chrX:68326440 T
T
 TC
TC
 1 a0001c0001t0002g0006
a0001c0001t0002g0006
 1 HG02074.hp1
HG02074.hp1
 intron_variant MODIFIER c.155-27345dupG
c.155-27345dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326440
chrX:68326468 G
G
 GC
GC
 1 a0001c0001t0003g0076
a0001c0001t0003g0076
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.155-27373dupG
c.155-27373dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326468
chrX:68326471 C
C
 CG
CG
 2 a0001c0001t0001g0029
a0001c0001t0002g0006
a0001c0001t0001g0029
a0001c0001t0002g0006
 2 HG02074.hp1
NA18988.hp1
HG02074.hp1
NA18988.hp1
 intron_variant MODIFIER c.155-27376dupC
c.155-27376dupC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326471
chrX:68326473 G
G
 GC
GC
 2 a0001c0001t0001g0098
a0001c0001t0024g0007
a0001c0001t0001g0098
a0001c0001t0024g0007
 2 NA18955.hp1
NA19000.hp1
NA18955.hp1
NA19000.hp1
 intron_variant MODIFIER c.155-27378dupG
c.155-27378dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326473
chrX:68326476 G
G
 GC
GC
 1 a0001c0001t0002g0006
a0001c0001t0002g0006
 1 HG02074.hp1
HG02074.hp1
 intron_variant MODIFIER c.155-27381dupG
c.155-27381dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326476
chrX:68326476 GC
GC
 G
G
 1 a0001c0001t0002g0054
a0001c0001t0002g0054
 1 NA18986.hp1
NA18986.hp1
 intron_variant MODIFIER c.155-27381delG
c.155-27381delG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326476
chrX:68326502 CCTCT
CCTCT
 C
C
 1 a0001c0001t0002g0054
a0001c0001t0002g0054
 1 NA18986.hp1
NA18986.hp1
 intron_variant MODIFIER c.155-27410_155-2740
others(8): Show 
c.155-27410_155-27407delAGAG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326502
chrX:68326546 T
T
 TG
TG
 1 a0001c0001t0001g0077
a0001c0001t0001g0077
 1 HG02071.hp1
HG02071.hp1
 intron_variant MODIFIER c.155-27451dupC
c.155-27451dupC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326546
chrX:68326551 C
C
 T
T
 3 a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0021g0150
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0021g0150
 3 HG01081.hp2
HG02055.hp1
HG03471.hp1
HG01081.hp2
HG02055.hp1
HG03471.hp1
 intron_variant MODIFIER c.155-27455G>A
c.155-27455G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326551
chrX:68326616 C
C
 T
T
 1 a0001c0001t0020g0099
a0001c0001t0020g0099
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.155-27520G>A
c.155-27520G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326616
chrX:68326632 G
G
 GC
GC
 128 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(125): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 128 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(125): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02922.hp2
HG02976.hp1
HG03017.hp1
HG03209.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-27537dupG
c.155-27537dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326632
chrX:68326632 G
G
 GCC
GCC
 2 a0001c0001t0002g0123
a0001c0001t0024g0007
a0001c0001t0002g0123
a0001c0001t0024g0007
 2 HG02027.hp1
NA19000.hp1
HG02027.hp1
NA19000.hp1
 intron_variant MODIFIER c.155-27538_155-2753
others(6): Show 
c.155-27538_155-27537dupGG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326632
chrX:68326652 G
G
 GC
GC
 129 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(126): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 129 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(126): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02922.hp2
HG02976.hp1
HG03017.hp1
HG03209.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-27557dupG
c.155-27557dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326652
chrX:68326652 G
G
 GCC
GCC
 1 a0001c0001t0002g0006
a0001c0001t0002g0006
 1 HG02074.hp1
HG02074.hp1
 intron_variant MODIFIER c.155-27558_155-2755
others(6): Show 
c.155-27558_155-27557dupGG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326652
chrX:68326670 A
A
 AC
AC
 3 a0001c0001t0001g0029
a0001c0001t0001g0141
a0001c0001t0002g0006
a0001c0001t0001g0029
a0001c0001t0001g0141
a0001c0001t0002g0006
 3 HG01074.hp1
HG02074.hp1
NA18988.hp1
HG01074.hp1
HG02074.hp1
NA18988.hp1
 intron_variant MODIFIER c.155-27575dupG
c.155-27575dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326670
chrX:68326722 A
A
 AGGGAGGT
others(621): Show 
AGGGAGGTGAGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG
GGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCC
GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCC
GTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCAG
TCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTC
CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA
GCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTCA
GCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAG
CCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCAGC
CCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGC
CCCCCGCCCGGCCAGCCGCCCCGTCCGGG
 1 a0001c0001t0017g0036
a0001c0001t0017g0036
 1 HG01952.hp1
HG01952.hp1
 intron_variant MODIFIER c.155-27627_155-2762
others(632): Show 
c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG
GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG
GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGG
GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGG
GGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGG
GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC
CCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCC
GGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTG
GACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG
GCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCC
CCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA
GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCA
CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCTCACCTC
CC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326722
chrX:68326722 A
A
 AGGGAGGT
others(626): Show 
AGGGAGGTGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG
AGGTGAGGGGCTCCTCTGCCCCCGGCCGCCCCTACTGGGAAGTGAGGAGC
CCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGAGGCGGGGGGGGGGGGG
GGGGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGC
CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCC
CCCGTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCC
CAGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCC
GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA
GGAGCCCCTCTGCCCGGCCAGCCGCCCGCCCAGGAGGGAGGTGGGGGGGT
CAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTC
AGCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGGAGGGGGGGGT
CAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGG
TCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
 1 a0001c0001t0001g0029
a0001c0001t0001g0029
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.155-27627_155-2762
others(637): Show 
c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG
GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG
GGGGGCTGACCCCCCCCTCCCCCCCTCCCGGACGAGGCGGCTGGCCGGGC
GGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCG
GGGGGCTGACCCCCCCACCTCCCTCCTGGGCGGGCGGCTGGCCGGGCAGA
GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC
TCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTC
CCGGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCC
TGGACGGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG
GCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGAC
CCCCCCCCCCCCCCCCCCCCCGCCTCCTCCCGGACGGGGCGGCTGGCCGG
GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGGGCAGAGGAGCC
CCTCACCTCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCC
ACCTCCC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326722
chrX:68326722 A
A
 AGGGAGGT
others(632): Show 
AGGGAGGTGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG
GAGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC
CCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGG
GGGGGGGGGGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTC
CTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCA
GTCGCCCCGTCCAGGAGGGAGGTGGGGGGGGTCAACCCCCCGCCCGGCCA
GCCGCCCAGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGC
CGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG
AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTG
GGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTG
GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGG
GGGGGTCAGCCCCCTGCCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG
GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
 1 a0001c0001t0018g0104
a0001c0001t0018g0104
 1 HG00280.hp1
HG00280.hp1
 intron_variant MODIFIER c.155-27627_155-2762
others(643): Show 
c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG
GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGGCA
GGGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGG
GGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGG
GGGCTGACCCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGA
GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC
TCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTC
CCGGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCCACCTCCCTC
CTGGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG
GCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGAC
CCCCCCCCCCCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGC
TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG
GAGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCC
CCCCCCACCTCCC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326722
chrX:68326722 A
A
 AGGGAGGT
others(642): Show 
AGGGAGGTGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG
GAGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC
CCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGG
GGGGGGGGGGGGGTCGGCCAGCCGCCCCCGGCCGGGAGGTGAGGGGCTCC
TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG
TCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGC
CCGCCCAGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCC
GCCCCCGTCCGGGAGGTGAGGGGGCGCCTCTGCCCGGCCGCCCCCTACTG
GGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCCGCCCAGGAGGGGA
GGTGGGGGGGGTCAGCCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGG
AGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTCGTCCGGGAGG
GGGGAGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAG
GGAGGTGGGGGGGGGTCAGCCCCCCGCCCCGGCCAGCCGCCCCGTCCGGG
 1 a0001c0001t0002g0006
a0001c0001t0002g0006
 1 HG02074.hp1
HG02074.hp1
 intron_variant MODIFIER c.155-27627_155-2762
others(653): Show 
c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGGCG
GGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC
AGGGGGGCTGACCCCCCCCTCCCCCCTCCCGGACGAGGGCGGCTGGCCGG
GCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAG
GCGGGGGGGCTGACCCCCCCCACCTCCCCTCCTGGGCGGGGGCGGCTGGC
CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGGCGGCCGGGCAGAGGCG
CCCCCTCACCTCCCGGACGGGGGCGGCTGGCCAGGCGGGGGGCTGACCCC
CCACCTCCCTCCCGGACTGGGCGGGCTGGCCGGGCGGGGGGTTGACCCCC
CCACCTCCCTCCTGGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACT
TCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGG
CGGCTGGCCGACCCCCCCCCCCCCCCCCCCCCCCCCCGCCTCCCTCCCGG
ACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG
CCGGGCAGAGGAGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGG
GGGCTGACCCCCCCCCACCTCCC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326722
chrX:68326722 A
A
 AGGGAGGT
others(624): Show 
AGGGAGGTGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG
GAGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC
CCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGG
GGGGGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTG
CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGC
CCCGTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCC
CAGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCC
GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA
GGAGCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGG
TCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGT
CAGCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTC
AGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTC
AGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
 1 a0001c0001t0002g0057
a0001c0001t0002g0057
 1 NA19012.hp1
NA19012.hp1
 intron_variant MODIFIER c.155-27627_155-2762
others(635): Show 
c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG
GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG
GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGG
GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGG
GGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGG
GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC
CCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCC
GGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTG
GACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG
GCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCC
CCCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGG
CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCT
CACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCAC
CTCCC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326722
chrX:68326722 A
A
 AGGGAGGT
others(624): Show 
AGGGAGGTGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG
GAGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC
CCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGG
GGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCCG
GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCCG
TCCAGGAGGGAGGTGGGGGGGGTCAACCCCCCCGCCCGGCCAGCCGCCCA
GTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGT
CCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG
AGCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTC
AGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGGTC
AGCCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTC
AGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTC
AGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
 1 a0001c0001t0024g0007
a0001c0001t0024g0007
 1 NA19000.hp1
NA19000.hp1
 intron_variant MODIFIER c.155-27627_155-2762
others(635): Show 
c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG
GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG
GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGG
GGGGCTGACCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGG
GGGGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGA
GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC
TCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTC
CCGGACTGGGCGGCTGGCCGGGCGGGGGGGTTGACCCCCCCCACCTCCCT
CCTGGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGG
GGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGA
CCCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGG
CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCT
CACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCAC
CTCCC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326722
chrX:68326722 A
A
 AGGGAGGT
others(294): Show 
AGGGAGGTGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG
GAGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC
CCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGG
GGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCCGGCCG
CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCCGTCCA
GGAGGGAGGTGGGGGGGTCAACCCCCCCGCCCGGCCAGCCGCCCAGTCCG
GG
 1 a0001c0001t0003g0139
a0001c0001t0003g0139
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.155-27627_155-2762
others(305): Show 
c.155-27627_155-27626insCCCGGACTGGGCGGCTGGCCGGGCGG
GGGGGTTGACCCCCCCACCTCCCTCCTGGACGGGGCGACTGGCCGGGCAG
AGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCAC
CTCCCGGCCGGGGCGGCTGGCCGACCCCCCCCCCCCCCCGCCTCCCTCCC
GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC
GGCCGGGCAGAGGAGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCG
GGGGGCTGACCCCCCCCCACCTCCC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326722
chrX:68326722 A
A
 AGGGAGGT
others(673): Show 
AGGGAGGTGGGGGGGGGTCAGCCCCCCGCCCGGCGAGCCGCCCCGTCCGG
GAGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC
CCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGG
GGGGGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTG
CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGC
CCCGTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCC
CAGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCC
GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA
GGAGCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGG
TCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGT
CAGCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTC
AGCCCCCTGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCA
GCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCA
GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.155-27627_155-2762
others(684): Show 
c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG
GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG
GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCAGG
GGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGGG
GGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGGG
GCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGGG
GCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCC
CGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCCG
GACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTGG
ACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG
CCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCCC
CCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGC
AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTC
ACCTCCCGGACGGGGCGGCTCGCCGGGCGGGGGGCTGACCCCCCCCCACC
TCCC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326722
chrX:68326722 A
A
 AGGGAGGT
others(627): Show 
AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGCTCCTCTGCCCGGCCCCCCTACTGGGAAGTGAGGAGCCCC
TCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGGG
GGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCC
GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCC
GTCCAGGAGGGAGGTGGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCA
GTCCGGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCG
TCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG
GAGCCCCTCTGCCCGGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGG
TCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGT
CAGCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGGAGGGGGGGT
CAGCCCCCTGCCCGGCCAGCCGCCCCCGTCCGGGAGGGAGGTGGGGGGGG
TCAGCCCCCCGCCCGGCCAGCCGCCCCCGTCCGGG
 1 a0001c0001t0001g0027
a0001c0001t0001g0027
 1 NA18994.hp1
NA18994.hp1
 intron_variant MODIFIER c.155-27627_155-2762
others(638): Show 
c.155-27627_155-27626insCCCGGACGGGGGCGGCTGGCCGGGCG
GGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGGCGGCTGGCCGGGC
AGGGGGCTGACCCCCCCTCCCCCCCTCCCGGACGAGGCGGCTGGCCGGGC
GGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCG
GGGGGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCCGGGCA
GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA
CCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCC
TCCCCGGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCCACCTCC
CTCCTGGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA
GGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCC
GACCCCCCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGG
CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGGGCCGGGCAGAGGAGC
CCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC
CACCTCCC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326722
chrX:68326722 A
A
 AGGGAGGT
others(622): Show 
AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCGGCCAGCCGCCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGG
GGGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCC
CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCC
CGTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCA
GTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGT
CCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG
AGCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTC
AGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCA
GCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCAG
CCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGAGGGGTCAG
CCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
 1 a0001c0001t0001g0093
a0001c0001t0001g0093
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.155-27627_155-2762
others(633): Show 
c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG
GGGGCTGACCCCTCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG
GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGG
GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGG
GGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGG
GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC
CCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCC
GGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTG
GACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG
GCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCC
CCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGGCGGCTGGCCGGGC
AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTC
ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCT
CCC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326722
chrX:68326722 A
A
 AGGGAGGT
others(615): Show 
AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCGGCCAGCCGCCCCGTCCGGAGGGAGGCGGGGGGGGGGGGGGG
GGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCCGGC
CGCCCCTACTGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCCGTCC
AGGAGGGAGGTGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCAGTCCGG
GAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGA
GGTGAGGGGCGCCTCTGCCCGCCGCCCCTACTGGGAAGTGAGGAGCCCCT
CTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTCAGCCCCC
CGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC
GCCCGGCCAGCCGCCCTCGTCCGGGAGGGGGGAGGGGGGGTCAGCCCCCT
GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG
CCCGGCCAGCCGCCCCGTCCGGG
 1 a0001c0001t0002g0054
a0001c0001t0002g0054
 1 NA18986.hp1
NA18986.hp1
 intron_variant MODIFIER c.155-27627_155-2762
others(626): Show 
c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG
GGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGG
GGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGGCGGCTGGCCGGGCGGG
GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGG
GGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGG
GGCTCCTCACTTCCCAGTAGGGGCGGCGGGCAGAGGCGCCCCTCACCTCC
CGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCCG
GACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCACCTCCCTCCTGGA
CGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCAGTAGGGGCGGCC
GGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCCCCC
CCCCCCCCCCCCGCCTCCCTCCGGACGGGGCGGCTGGCCGGGCAGAGGGG
CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCC
GGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326722
chrX:68326722 A
A
 AGGGAGGT
others(632): Show 
AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG
GGGGGGGGGGGGGGGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGG
GGCTCCTCTGCCCGGCCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG
CCAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGC
CAGCCGCCCAGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCA
GCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTG
GGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGG
TGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGT
GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAG
GGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG
GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
 1 a0001c0001t0002g0047
a0001c0001t0002g0047
 1 HG00673.hp1
HG00673.hp1
 intron_variant MODIFIER c.155-27627_155-2762
others(643): Show 
c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG
GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG
GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGG
GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGG
GGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGG
GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC
CCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCC
GGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTG
GACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGGC
CGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCCCC
CCCCCCCCCCCCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGG
CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA
GGAGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC
CCCCCCACCTCCC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326722
chrX:68326722 A
A
 AGGGAGGT
others(632): Show 
AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG
GGGGGGGGGGGGGGGGTTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGC
TCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGC
CAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCC
AGCCGCCCAGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAG
CCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGG
GAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGT
GGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTG
GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGG
GGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG
GGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCCGTCCGGG
 1 a0001c0001t0001g0141
a0001c0001t0001g0141
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.155-27627_155-2762
others(643): Show 
c.155-27627_155-27626insCCCGGACGGGGGCGGCTGGCCGGGCG
GGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA
GGGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGG
GGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGG
GGGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAG
GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT
CCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCC
CGGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCT
GGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC
GGCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGAACC
CCCCCCCCCCCCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGG
CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA
GGAGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC
CCCCCCACCTCCC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326722
chrX:68326722 A
A
 AGGGAGGT
others(630): Show 
AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG
GGGGGGGGGGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTC
CTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCA
GTCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAG
CCGCCCAGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCC
GCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGA
AGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGG
GGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGG
GGGGGTCAGCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGG
GGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG
GGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
 1 a0001c0001t0001g0090
a0001c0001t0001g0090
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.155-27627_155-2762
others(641): Show 
c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG
GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG
GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGG
GGGCTGACCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGG
GGGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAG
GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT
CCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCC
CGGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCT
GGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC
GGCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCC
CCCCCCCCCCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCT
GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG
AGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCC
CCCCACCTCCC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326722
chrX:68326722 A
A
 AGGGAGGT
others(628): Show 
AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG
GGGGGGGGGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCC
TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG
TCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGC
CGCCCAGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCG
CCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA
GTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGG
GGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGG
GGGTCAGCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGG
GGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG
GGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
 1 a0001c0001t0013g0042
a0001c0001t0013g0042
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.155-27627_155-2762
others(639): Show 
c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG
GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG
GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGG
GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGG
GGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGG
GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC
CCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCC
GGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTG
GACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG
GCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCC
CCCCCCCCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGG
CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAG
CCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC
CCACCTCCC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326722
chrX:68326722 A
A
 AGGGAGGT
others(626): Show 
AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG
GGGGGGGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTC
TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTC
GCCCCGTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCG
CCCAGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCC
CCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGT
GAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGG
GGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGG
GTCAGCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGG
TCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGG
TCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
 1 a0001c0001t0001g0079
a0001c0001t0001g0079
 1 NA20752.hp1
NA20752.hp1
 intron_variant MODIFIER c.155-27627_155-2762
others(637): Show 
c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG
GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG
GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGG
GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGG
GGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGG
GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC
CCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCC
GGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTG
GACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG
GCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCC
CCCCCCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCC
GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCC
CCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCC
ACCTCCC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326722
chrX:68326722 A
A
 AGGGAGGT
others(632): Show 
AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG
GGGGGGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCT
GCCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTC
GCCCCGTCCAGGAGGGAGGTGGGGGGGGTCAAACCCCCCGCCCGGCCAGC
CGCCCAGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCC
GCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGA
AGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGG
GGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGG
GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGG
GGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG
GGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCCGTCCGGG
 1 a0001c0001t0001g0050
a0001c0001t0001g0050
 1 HG00609.hp1
HG00609.hp1
 intron_variant MODIFIER c.155-27627_155-2762
others(643): Show 
c.155-27627_155-27626insCCCGGACGGGGGCGGCTGGCCGGGCG
GGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA
GGGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGG
GGGGCTGACCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGG
GGGGCTGACCCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAG
AGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAC
CTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCC
TCCCGGACTGGGCGGCTGGCCGGGCGGGGGGTTTGACCCCCCCCACCTCC
CTCCTGGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA
GGGGCGGCCGGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGC
CGACCCCCCCCCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGG
CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA
GGAGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC
CCCCCCACCTCCC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326722
chrX:68326722 A
A
 AGGGAGGT
others(625): Show 
AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG
GGGGGGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCT
GCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCG
CCCCGTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGC
CCAGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCC
CGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG
AGGAGCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGG
GTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGG
TCAGCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGT
CAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGT
CAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
 2 a0001c0001t0001g0025
a0001c0001t0003g0100
a0001c0001t0001g0025
a0001c0001t0003g0100
 2 HG01106.hp1
HG01515.hp1
HG01106.hp1
HG01515.hp1
 intron_variant MODIFIER c.155-27627_155-2762
others(636): Show 
c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG
GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG
GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGG
GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGG
GGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGG
GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC
CCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCC
GGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTG
GACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG
GCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCC
CCCCCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCG
GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCC
CTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCA
CCTCCC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326722
chrX:68326722 A
A
 AGGGAGGT
others(625): Show 
AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG
GGGGGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTG
CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGC
CCCGTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCC
CAGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCC
GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA
GGAGCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGG
TCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGT
CAGCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGGT
CAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGT
CAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
 1 a0001c0001t0001g0086
a0001c0001t0001g0086
 1 NA19060.hp1
NA19060.hp1
 intron_variant MODIFIER c.155-27627_155-2762
others(636): Show 
c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG
GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG
GGGGCTGACCCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGG
GGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGG
GGGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAG
GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT
CCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCC
CGGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCT
GGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC
GGCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCC
CCCCCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCG
GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCC
CTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCA
CCTCCC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326722
chrX:68326722 A
A
 AGGGAGGT
others(624): Show 
AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG
GGGGGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTG
CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGC
CCCGTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCC
CAGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCC
GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA
GGAGCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGG
TCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGT
CAGCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTC
AGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGAGGGGTC
AGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
 1 a0001c0001t0003g0081
a0001c0001t0003g0081
 1 HG03492.hp1
HG03492.hp1
 intron_variant MODIFIER c.155-27627_155-2762
others(635): Show 
c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG
GGGGCTGACCCCTCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG
GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGG
GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGG
GGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGG
GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC
CCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCC
GGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTG
GACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG
GCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCC
CCCCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGG
GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCC
TCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCAC
CTCCC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326722
chrX:68326722 A
A
 AGGGAGGT
others(624): Show 
AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG
GGGGGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTG
CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGC
CCCGTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCC
CAGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCC
GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA
GGAGCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGG
TCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGT
CAGCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTC
AGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTC
AGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
 5 a0001c0001t0001g0039
a0001c0001t0001g0046
a0001c0001t0001g0058
others(2): Show 
a0001c0001t0001g0039
a0001c0001t0001g0046
a0001c0001t0001g0058
a0001c0001t0001g0097
a0001c0001t0026g0056
 5 HG01928.hp1
HG02129.hp1
HG02698.hp1
others(2): Show 
HG01928.hp1
HG02129.hp1
HG02698.hp1
NA18970.hp1
NA20905.hp1
 intron_variant MODIFIER c.155-27627_155-2762
others(635): Show 
c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG
GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG
GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGG
GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGG
GGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGG
GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC
CCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCC
GGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTG
GACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG
GCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCC
CCCCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGG
GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCC
TCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCAC
CTCCC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326722
chrX:68326722 A
A
 AGGGAGGT
others(625): Show 
AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG
GGGGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGC
CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCC
CCGTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCC
AGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCC
GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA
GGAGCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGG
TCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGT
CAGCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTC
AGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTC
AGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
 1 a0001c0001t0001g0154
a0001c0001t0001g0154
 1 NA19005.hp1
NA19005.hp1
 intron_variant MODIFIER c.155-27627_155-2762
others(636): Show 
c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG
GGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA
GGGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGG
GGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGG
GGGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAG
GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT
CCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTC
CCGGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCC
TGGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG
CGGCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACC
CCCCCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCG
GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCC
CTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCA
CCTCCC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326722
chrX:68326722 A
A
 AGGGAGGT
others(624): Show 
AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG
GGGGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGC
CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCC
CCGTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCC
AGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCCGCCTGGCCAGCCGCCCC
GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA
GGAGCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGG
TCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGT
CAGCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTC
AGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTC
AGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
 1 a0001c0001t0001g0082
a0001c0001t0001g0082
 1 HG03710.hp1
HG03710.hp1
 intron_variant MODIFIER c.155-27627_155-2762
others(635): Show 
c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG
GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG
GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGG
GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGG
GGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGG
GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC
CCGGACGGGGCGGCTGGCCAGGCGGGGGGGCTGACCCCCCACCTCCCTCC
CGGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCT
GGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC
GGCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCC
CCCCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGG
GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCC
TCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCAC
CTCCC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326722
chrX:68326722 A
A
 AGGGAGGT
others(624): Show 
AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG
GGGGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGC
CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCC
CCGTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCC
AGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCG
TCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG
GAGCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGG
TCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGT
CAGCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTC
AGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTC
AGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
 1 a0001c0001t0001g0040
a0001c0001t0001g0040
 1 NA18965.hp1
NA18965.hp1
 intron_variant MODIFIER c.155-27627_155-2762
others(635): Show 
c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG
GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG
GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGG
GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGG
GGCTGACCCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAG
GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT
CCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCC
CGGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCT
GGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC
GGCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCC
CCCCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGG
GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCC
TCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCAC
CTCCC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326722
chrX:68326722 A
A
 AGGGAGGT
others(623): Show 
AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG
GGGGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGC
CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCC
CCGTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCC
AGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCG
TCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG
GAGCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGT
CAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTC
AGCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCA
GCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCA
GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
 6 a0001c0001t0001g0028
a0001c0001t0001g0060
a0001c0001t0001g0062
others(3): Show 
a0001c0001t0001g0028
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0088
a0001c0001t0025g0087
 6 HG02015.hp1
HG02056.hp1
HG02083.hp1
others(3): Show 
HG02015.hp1
HG02056.hp1
HG02083.hp1
HG02300.hp1
NA18943.hp1
NA19009.hp1
 intron_variant MODIFIER c.155-27627_155-2762
others(634): Show 
c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG
GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG
GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGG
GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGG
GGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGG
GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC
CCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCC
GGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTG
GACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG
GCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCC
CCCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGG
CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCT
CACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACC
TCCC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326722
chrX:68326722 A
A
 AGGGAGGT
others(623): Show 
AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG
GGGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCC
CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCC
CCGTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCC
AGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCG
TCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG
GAGCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGT
CAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTC
AGCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCA
GCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCA
GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
 1 a0001c0001t0002g0123
a0001c0001t0002g0123
 1 HG02027.hp1
HG02027.hp1
 intron_variant MODIFIER c.155-27627_155-2762
others(634): Show 
c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG
GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG
GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGG
GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGG
GGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGG
GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC
CCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCC
GGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTG
GACGGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC
GGCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCC
CCCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGG
CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCT
CACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACC
TCCC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326722
chrX:68326722 A
A
 AGGGAGGT
others(626): Show 
AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG
GGGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCC
CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCC
CGTCCAGGAGGGAGGTGGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCC
AGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCG
TCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG
GAGCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGT
CAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGGT
CAGCCCCCCGCCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGT
CAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGG
TCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
 1 a0001c0001t0001g0048
a0001c0001t0001g0048
 1 HG02738.hp1
HG02738.hp1
 intron_variant MODIFIER c.155-27627_155-2762
others(637): Show 
c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG
GGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA
GGGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGGCG
GGGGGCTGACCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCG
GGGGGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAG
AGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAC
CTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCT
CCCGGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCCACCTCCCT
CCTGGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGG
GGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGA
CCCCCCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCC
GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCC
CCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCC
ACCTCCC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326722
chrX:68326722 A
A
 AGGGAGGT
others(622): Show 
AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG
GGGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCC
CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCC
CGTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCA
GTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGT
CCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG
AGCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTC
AGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCA
GCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCAG
CCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAG
CCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
 2 a0001c0001t0002g0055
a0001c0003t0010g0089
a0001c0001t0002g0055
a0001c0003t0010g0089
 2 HG03688.hp1
NA18983.hp1
HG03688.hp1
NA18983.hp1
 intron_variant MODIFIER c.155-27627_155-2762
others(633): Show 
c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG
GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG
GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGG
GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGG
GGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGG
GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC
CCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCC
GGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTG
GACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG
GCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCC
CCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGC
AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTC
ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCT
CCC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326722
chrX:68326722 A
A
 AGGGAGGT
others(623): Show 
AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG
GGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCC
GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCC
GTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCAG
TCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTC
CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA
GCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTCA
GCCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCA
GCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCAG
CCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCA
GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
 1 a0004c0005t0012g0024
a0004c0005t0012g0024
 1 HG01169.hp2
HG01169.hp2
 intron_variant MODIFIER c.155-27627_155-2762
others(634): Show 
c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG
GGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA
GGGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGG
GGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGG
GGGGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGA
GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC
TCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTC
CCGGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCC
TGGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG
CGGCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACC
CCCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGG
CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCT
CACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACC
TCCC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326722
chrX:68326722 A
A
 AGGGAGGT
others(622): Show 
AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG
GGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCC
GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCC
GTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCAG
TCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTC
CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA
GCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTCA
GCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAG
CCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCAGC
CCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAG
CCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
 1 a0001c0003t0010g0085
a0001c0003t0010g0085
 1 HG02735.hp1
HG02735.hp1
 intron_variant MODIFIER c.155-27627_155-2762
others(633): Show 
c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG
GGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA
GGGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGG
GGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGG
GGGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAG
GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT
CCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCC
CGGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCT
GGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC
GGCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCC
CCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGC
AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTC
ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCT
CCC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326722
chrX:68326722 A
A
 AGGGAGGT
others(621): Show 
AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG
GGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCC
GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCC
GTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCAG
TCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTC
CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA
GCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTCA
GCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAG
CCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCAGC
CCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGC
CCCCCGCCCGGCCAGCCGCCCCGTCCGGG
 9 a0001c0001t0001g0017
a0001c0001t0001g0067
a0001c0001t0001g0068
others(6): Show 
a0001c0001t0001g0017
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0075
a0001c0001t0001g0132
a0001c0001t0001g0147
a0001c0001t0003g0035
a0001c0001t0027g0072
 9 HG00099.hp1
HG01069.hp1
HG01099.hp1
others(6): Show 
HG00099.hp1
HG01069.hp1
HG01099.hp1
HG01934.hp1
NA18952.hp1
NA18971.hp1
NA18977.hp1
NA19056.hp1
NA19066.hp1
 intron_variant MODIFIER c.155-27627_155-2762
others(632): Show 
c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG
GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG
GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGG
GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGG
GGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGG
GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC
CCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCC
GGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTG
GACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG
GCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCC
CCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA
GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCA
CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTC
CC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326722
chrX:68326722 A
A
 AGGGAGGT
others(621): Show 
AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG
GGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCCG
GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCCG
TCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCAGT
CCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCC
GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG
CCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTCAG
CCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGGTCAG
CCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCAGC
CCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGC
CCCCCGCCCGGCCAGCCGCCCCGTCCGGG
 1 a0001c0001t0001g0153
a0001c0001t0001g0153
 1 HG04228.hp1
HG04228.hp1
 intron_variant MODIFIER c.155-27627_155-2762
others(632): Show 
c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG
GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG
GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGG
GGGCTGACCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGG
GGGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAG
GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT
CCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCC
CGGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCT
GGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC
GGCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCC
CCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA
GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCA
CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTC
CC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326722
chrX:68326722 A
A
 AGGGAGGT
others(622): Show 
AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG
GGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCCG
GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCCG
TCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCAGT
CCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCC
GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG
CCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTCAG
CCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGC
CCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGGTCAGC
CCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAG
CCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
 1 a0001c0001t0001g0059
a0001c0001t0001g0059
 1 HG01261.hp1
HG01261.hp1
 intron_variant MODIFIER c.155-27627_155-2762
others(633): Show 
c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG
GGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA
GGGGGCTGACCCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCG
GGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGG
GGGGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGA
GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC
TCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTC
CCGGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCC
TGGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG
CGGCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACC
CCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGC
AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTC
ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCT
CCC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326722
chrX:68326722 A
A
 AGGGAGGT
others(621): Show 
AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG
GGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCCG
GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCCG
TCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCAGT
CCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCC
GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG
CCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTCAG
CCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGC
CCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCAGCC
CCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGC
CCCCCGCCCGGCCAGCCGCCCCGTCCGGG
 1 a0001c0001t0001g0080
a0001c0001t0001g0080
 1 HG03017.hp1
HG03017.hp1
 intron_variant MODIFIER c.155-27627_155-2762
others(632): Show 
c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG
GGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA
GGGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGG
GGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGG
GGGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAG
GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT
CCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCC
CGGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCT
GGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC
GGCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCC
CCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA
GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCA
CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTC
CC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326722
chrX:68326722 A
A
 AGGGAGGT
others(621): Show 
AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG
GGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCCG
GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCCG
TCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCAGT
CCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCC
GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG
CCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTCAG
CCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGC
CCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCAGCC
CCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCC
CCCCCGCCCGGCCAGCCGCCCCGTCCGGG
 1 a0002c0002t0001g0002
a0002c0002t0001g0002
 1 HG01358.hp1
HG01358.hp1
 intron_variant MODIFIER c.155-27627_155-2762
others(632): Show 
c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG
GGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA
GGGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGG
GGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGG
GGGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAG
GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT
CCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCC
CGGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCT
GGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC
GGCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCC
CCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA
GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCA
CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTC
CC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326722
chrX:68326722 A
A
 AGGGAGGT
others(620): Show 
AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG
GGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCCG
GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCCG
TCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCAGT
CCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCC
GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG
CCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTCAG
CCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGC
CCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCAGCC
CCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCC
CCCCGCCCGGCCAGCCGCCCCGTCCGGG
 12 a0001c0001t0001g0016
a0001c0001t0001g0043
a0001c0001t0001g0045
others(9): Show 
a0001c0001t0001g0016
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0149
a0001c0001t0002g0083
a0001c0001t0003g0063
a0001c0001t0003g0065
 12 HG00140.hp1
HG01256.hp1
HG01258.hp1
others(9): Show 
HG00140.hp1
HG01256.hp1
HG01258.hp1
HG02135.hp1
HG02615.hp2
HG04199.hp1
NA18747.hp1
NA18948.hp1
NA19068.hp1
NA19085.hp1
NA19088.hp1
NA20805.hp1
 intron_variant MODIFIER c.155-27627_155-2762
others(631): Show 
c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG
GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG
GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGG
GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGG
GGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGG
GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC
CCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCC
GGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTG
GACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG
GCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCC
CCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG
AGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCAC
CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCC
C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326722
chrX:68326722 A
A
 AGGGAGGT
others(621): Show 
AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG
GGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCCG
GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCCG
TCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCAGT
CCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCC
GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG
CCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTCAG
CCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGC
CCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGGAGGGGGGGTCAGC
CCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGC
CCCCCGCCCGGCCAGCCGCCCCGTCCGGG
 1 a0001c0001t0001g0066
a0001c0001t0001g0066
 1 NA18990.hp1
NA18990.hp1
 intron_variant MODIFIER c.155-27627_155-2762
others(632): Show 
c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG
GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG
GGGGCTGACCCCCCCTCCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGG
GGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGG
GGGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAG
GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT
CCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCC
CGGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCT
GGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC
GGCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCC
CCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA
GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCA
CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTC
CC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326722
chrX:68326722 A
A
 AGGGAGGT
others(620): Show 
AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG
GGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCCGG
CCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCCGT
CCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCAGTC
CGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCG
GGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC
CCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGGTCAG
CCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGC
CCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCAGCC
CCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCC
CCCCGCCCGGCCAGCCGCCCCGTCCGGG
 1 a0001c0001t0001g0051
a0001c0001t0001g0051
 1 HG00621.hp1
HG00621.hp1
 intron_variant MODIFIER c.155-27627_155-2762
others(631): Show 
c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG
GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG
GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGG
GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGG
GGCTGACCCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAG
GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT
CCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCC
CGGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCT
GGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC
GGCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCC
CCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG
AGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCAC
CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCC
C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326722
chrX:68326722 A
A
 AGGGAGGT
others(619): Show 
AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG
GGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCCGG
CCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCCGT
CCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCAGTC
CGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCG
GGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC
CCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTCAGC
CCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCC
CCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCAGCCC
CCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCC
CCCGCCCGGCCAGCCGCCCCGTCCGGG
 4 a0001c0001t0001g0015
a0001c0001t0001g0041
a0001c0001t0028g0084
others(1): Show 
a0001c0001t0001g0015
a0001c0001t0001g0041
a0001c0001t0028g0084
a0002c0002t0003g0001
 4 NA19004.hp1
NA19007.hp1
NA19070.hp1
others(1): Show 
NA19004.hp1
NA19007.hp1
NA19070.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-27627_155-2762
others(630): Show 
c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG
GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG
GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGG
GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGG
GGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGG
GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC
CCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCC
GGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTG
GACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG
GCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCC
CCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGA
GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACC
TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326722
chrX:68326722 A
A
 AGGGAGGT
others(619): Show 
AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG
GGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCCGGC
CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCCGTC
CAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCAGTCC
GGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGG
GAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC
CCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTCAGCC
CCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCC
CCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCAGCCCC
CTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCC
CCCGCCCGGCCAGCCGCCCCGTCCGGG
 2 a0001c0001t0001g0044
a0001c0001t0004g0010
a0001c0001t0001g0044
a0001c0001t0004g0010
 2 HG02451.hp2
HG03942.hp1
HG02451.hp2
HG03942.hp1
 intron_variant MODIFIER c.155-27627_155-2762
others(630): Show 
c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG
GGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA
GGGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGG
GGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGG
GGGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAG
GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT
CCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCC
CGGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCT
GGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC
GGCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCC
CCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGA
GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACC
TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326722
chrX:68326722 A
A
 AGGGAGGT
others(618): Show 
AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG
GGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCCGGC
CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCCGTC
CAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCAGTCC
GGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGG
GAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC
CCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTCAGCC
CCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCC
CCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCAGCCCC
CTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCC
CCGCCCGGCCAGCCGCCCCGTCCGGG
 6 a0001c0001t0001g0009
a0001c0001t0001g0049
a0001c0001t0001g0092
others(3): Show 
a0001c0001t0001g0009
a0001c0001t0001g0049
a0001c0001t0001g0092
a0001c0001t0011g0061
a0001c0001t0029g0031
a0003c0004t0014g0102
 6 HG02886.hp1
NA18945.hp1
NA18960.hp1
others(3): Show 
HG02886.hp1
NA18945.hp1
NA18960.hp1
NA18962.hp1
NA18982.hp1
NA18995.hp1
 intron_variant MODIFIER c.155-27627_155-2762
others(629): Show 
c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG
GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG
GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGG
GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGG
GGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGG
GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC
CCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCC
GGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTG
GACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG
GCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCC
CCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAG
GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCT
CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326722
chrX:68326722 A
A
 AGGGAGGT
others(617): Show 
AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG
GGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCCGGCC
GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCCGTCC
AGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCAGTCCG
GGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTCAGCCC
CCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCC
CCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCAGCCCCC
TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCC
CGCCCGGCCAGCCGCCCCGTCCGGG
 3 a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0007g0023
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0007g0023
 3 HG02280.hp2
HG02559.hp1
HG02922.hp2
HG02280.hp2
HG02559.hp1
HG02922.hp2
 intron_variant MODIFIER c.155-27627_155-2762
others(628): Show 
c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG
GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG
GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGG
GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGG
GGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGG
GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC
CCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCC
GGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTG
GACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG
GCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCC
CCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGG
GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTC
CCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326722
chrX:68326722 A
A
 AGGGAGGT
others(617): Show 
AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG
GGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCCGGCC
GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCCGTCC
AGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCAGTCCG
GGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTCAGCCC
CCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCC
CCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCAGCCCCC
TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCC
CGCCCGGCCAGCCGCCCCGTCCGGG
 1 a0001c0001t0003g0101
a0001c0001t0003g0101
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.155-27627_155-2762
others(628): Show 
c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG
GGGGCTGACCCCCACCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG
GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGG
GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGG
GGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGG
GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC
CCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCC
GGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTG
GACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG
GCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCC
CCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGG
GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTC
CCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326722
chrX:68326722 A
A
 AGGGAGGT
others(616): Show 
AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG
GGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCCGGCCG
CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCCGTCCA
GGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCAGTCCGG
GAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGA
GGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC
TCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTCAGCCCC
CCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCC
CGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCAGCCCCCT
GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCC
GCCCGGCCAGCCGCCCCGTCCGGG
 1 a0001c0001t0002g0021
a0001c0001t0002g0021
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.155-27627_155-2762
others(627): Show 
c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG
GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG
GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGG
GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGG
GGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGG
GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC
CCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCC
GGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTG
GACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG
GCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCC
CCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGG
GCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCC
CGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326722
chrX:68326722 A
A
 AGGGAGGT
others(517): Show 
AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG
GTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCCGGCCGC
CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCCGTCCAG
GAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCAGTCCGGG
AGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAG
GTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCT
CTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTCAGCCCCC
CGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGGTCAGCCCCC
CGCCCGGCCAGCCGCCCCGTCCGGG
 1 a0001c0001t0002g0133
a0001c0001t0002g0133
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.155-27627_155-2762
others(528): Show 
c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG
GGGGCTGACCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGG
GGGGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGA
GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC
TCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTC
CCGGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCC
TGGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG
CGGCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACC
CCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGG
GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTC
CCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326722
chrX:68326722 A
A
 AGGGAGGT
others(517): Show 
AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG
TCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCCGGCCGCC
CCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCCGTCCAGG
AGGGAGGTGGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCAGTCCGGG
AGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAG
GTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCT
CTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTCAGCCCCC
CGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGGTCAGCCCCC
CGCCCGGCCAGCCGCCCCGTCCGGG
 2 a0001c0001t0007g0022
a0001c0001t0007g0033
a0001c0001t0007g0022
a0001c0001t0007g0033
 2 NA19030.hp1
NA19030.hp2
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.155-27627_155-2762
others(528): Show 
c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG
GGGGCTGACCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGG
GGGGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGA
GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC
TCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTC
CCGGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCCACCTCCCTC
CTGGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG
GCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGAC
CCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGG
GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTC
CCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326722
chrX:68326722 A
A
 AGGGAGGT
others(606): Show 
AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGT
CGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCCGGCCGCCC
CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCCGTCCAGGA
GGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCTCCCGGAGGTGGGG
GGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGC
CTCTGCCCGGCCGCCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCC
AGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCA
GCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCGCCCGGCCA
GCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAG
CCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAG
CCGCCCCGTCCGGG
 1 a0001c0001t0004g0030
a0001c0001t0004g0030
 1 HG01081.hp2
HG01081.hp2
 intron_variant MODIFIER c.155-27627_155-2762
others(617): Show 
c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG
GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG
GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGG
GGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGG
GGGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCAGGCAGAG
GGGCTCCTCACTTCCCAGTAGGGGGCGGCCGGGCAGAGGCGCCCCTCACC
TCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCGG
GAGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTGGACGGGG
CGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC
AGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCCCCCCCCC
CCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT
TCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGACGGGGC
GGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326722
chrX:68326722 A
A
 AGGGAGGT
others(605): Show 
AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGT
CGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCCGGCCGCCC
CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCCGTCCAGGA
GGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCTCCCGGAGGTGGGG
GGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCC
TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAG
CCGCCCCGCCCAGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCTGGCCAG
CCGCCCCATCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAG
CCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGC
CGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGC
CGCCCCGTCCGGG
 1 a0001c0001t0004g0034
a0001c0001t0004g0034
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.155-27627_155-2762
others(616): Show 
c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG
GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG
GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGG
GGGCTGACCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGG
GGGCTGACCCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCAGGCAGA
GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC
TCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCGGG
AGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTGGACGGGGC
GACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA
GAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCCCCCCCCCC
CGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT
CCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGACGGGGCG
GCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326722
chrX:68326722 A
A
 AGGGAGGT
others(605): Show 
AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGT
CGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCCGGCCGCCC
CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCCGTCCAGGA
GGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCTCCCGGAGGTGGGG
GGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCC
TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAG
CCGCCCCGCCCAGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCTGGCCAG
CCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGC
CGCCTCGTCCGGGAGGGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCC
GCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCGCCCGGCCAGC
CGCCCCGTCCGGG
 1 a0001c0001t0002g0115
a0001c0001t0002g0115
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.155-27627_155-2762
others(616): Show 
c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG
GGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA
GGGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGG
GGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGG
GGGCTGACCCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCAGGCAGA
GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC
TCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCGGG
AGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTGGACGGGGC
GACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA
GAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCCCCCCCCCC
CGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT
CCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGACGGGGCG
GCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326722
chrX:68326722 A
A
 AGGGAGGT
others(605): Show 
AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGT
CGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCCGGCCGCCC
CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCCGTCCAGGA
GGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCTCCCGGAGGTGGGG
GGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCC
TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAG
CCGCCCCGCCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGC
CGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCC
GCCTCGTCCGGGAGGGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCG
CCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCCGCCCGGCCAGC
CGCCCCGTCCGGG
 1 a0001c0001t0021g0150
a0001c0001t0021g0150
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.155-27627_155-2762
others(616): Show 
c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG
GGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC
AGGGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCG
GGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGG
GGGGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCAGGCAGA
GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC
TCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCGGG
AGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTGGACGGGGC
GACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA
GAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCCCCCCCCCC
CGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT
CCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGACGGGGCG
GCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326722
chrX:68326722 A
A
 AGGGAGGT
others(603): Show 
AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGT
CGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCCGGCCGCCC
CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCCGTCCAGGA
GGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCTCCCGGAGGTGGGG
GGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCC
TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAG
CCGCCCCGCCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGC
CGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCC
GCCTCGTCCGGGAGGGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCG
CCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCG
CCCCGTCCGGG
 2 a0001c0001t0004g0026
a0001c0001t0006g0120
a0001c0001t0004g0026
a0001c0001t0006g0120
 2 HG01169.hp1
NA18906.hp1
HG01169.hp1
NA18906.hp1
 intron_variant MODIFIER c.155-27627_155-2762
others(614): Show 
c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG
GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG
GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGG
GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGG
GGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCAGGCAGAGG
GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC
CCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCGGGAG
GCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTGGACGGGGCGA
CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA
GGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCCCCCCCCCCCG
CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC
CAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGACGGGGCGGC
TGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326722
chrX:68326722 A
A
 AGGGAGGT
others(602): Show 
AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGTC
GGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCCGGCCGCCCC
TACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCCGTCCAGGAG
GGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCTCCCGGAGGTGGGGG
GTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCT
CTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGC
CGCCCCGCCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCC
GCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCG
CCTCGTCCGGGAGGGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGC
CCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGC
CCCGTCCGGG
 1 a0001c0001t0006g0121
a0001c0001t0006g0121
 1 HG01167.hp1
HG01167.hp1
 intron_variant MODIFIER c.155-27627_155-2762
others(613): Show 
c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG
GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG
GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGG
GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGG
GGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCAGGCAGAGG
GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC
CCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCGGGAG
GCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTGGACGGGGCGA
CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA
GGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCCCCCCCCCCGC
CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC
AGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGACGGGGCGGCT
GGCCGGGCGGGGGGCTGACCCCCCCCACCTCCC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326722
chrX:68326722 A
A
 AGGGAGGT
others(619): Show 
AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCGAGCCGCCCCGTCCGGG
AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG
GGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCCGG
CCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCCGT
CCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCAGTC
CGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCG
GGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC
CCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTCAGC
CCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCC
CCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCAGCCC
CCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCC
CCCGCCCGGCCAGCCGCCCCGTCCGGG
 1 a0001c0001t0015g0148
a0001c0001t0015g0148
 1 HG01943.hp1
HG01943.hp1
 intron_variant MODIFIER c.155-27627_155-2762
others(630): Show 
c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG
GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG
GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGG
GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGG
GGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGG
GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC
CCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCC
GGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTG
GACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG
GCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCC
CCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGA
GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACC
TCCCGGACGGGGCGGCTCGCCGGGCGGGGGGCTGACCCCCCCCACCTCCC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326722
chrX:68326723 A
A
 G
G
 34 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(31): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0098
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0002g0019
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0076
a0001c0001t0003g0091
a0001c0001t0003g0113
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0023g0037
 34 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(31): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG02071.hp1
HG02109.hp2
HG02132.hp1
HG02280.hp1
HG02451.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18944.hp1
NA18955.hp1
NA18966.hp1
 intron_variant MODIFIER c.155-27627T>C
c.155-27627T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326723
chrX:68326726 A
A
 G
G
 96 a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
others(93): Show 
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0132
a0001c0001t0001g0141
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0123
a0001c0001t0002g0133
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0081
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0139
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0021g0150
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 96 HG00099.hp1
HG00140.hp1
HG00280.hp1
others(93): Show 
HG00099.hp1
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00673.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02074.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02559.hp1
HG02615.hp2
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02922.hp2
HG03017.hp1
HG03471.hp1
HG03492.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-27630T>C
c.155-27630T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326726
chrX:68326726 AC
AC
 A
A
 2 a0001c0001t0001g0098
a0001c0001t0003g0076
a0001c0001t0001g0098
a0001c0001t0003g0076
 2 HG01192.hp1
NA18955.hp1
HG01192.hp1
NA18955.hp1
 intron_variant MODIFIER c.155-27631delG
c.155-27631delG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326726
chrX:68326727 C
C
 A
A
 96 a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
others(93): Show 
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0132
a0001c0001t0001g0141
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0123
a0001c0001t0002g0133
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0081
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0139
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0021g0150
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 96 HG00099.hp1
HG00140.hp1
HG00280.hp1
others(93): Show 
HG00099.hp1
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00673.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02074.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02559.hp1
HG02615.hp2
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02922.hp2
HG03017.hp1
HG03471.hp1
HG03492.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-27631G>T
c.155-27631G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326727
chrX:68326727 C
C
 G
G
 32 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(29): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0002g0019
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0113
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0023g0037
 32 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(29): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG02071.hp1
HG02109.hp2
HG02132.hp1
HG02280.hp1
HG02451.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18944.hp1
NA18966.hp1
 intron_variant MODIFIER c.155-27631G>C
c.155-27631G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326727
chrX:68326729 G
G
 T
T
 32 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(29): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0002g0019
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0113
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0023g0037
 32 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(29): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG02071.hp1
HG02109.hp2
HG02132.hp1
HG02280.hp1
HG02451.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18944.hp1
NA18966.hp1
 intron_variant MODIFIER c.155-27633C>A
c.155-27633C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326729
chrX:68326730 T
T
 G
G
 32 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(29): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0002g0019
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0113
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0023g0037
 32 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(29): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG02071.hp1
HG02109.hp2
HG02132.hp1
HG02280.hp1
HG02451.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18944.hp1
NA18966.hp1
 intron_variant MODIFIER c.155-27634A>C
c.155-27634A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326730
chrX:68326730 T
T
 TGGGGGGG
others(634): Show 
TGGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTG
AGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG
CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGGGGGGG
GGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCC
GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCC
GTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCAG
TCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTC
CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA
GCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTCA
GCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAG
CCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGGTCAG
CCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAG
CCCCCCCGCCCCGGGCCAGCCGCCCCGTCCGGGAGGGAGGTG
 1 a0001c0001t0003g0076
a0001c0001t0003g0076
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.155-27635_155-2763
others(645): Show 
c.155-27635_155-27634insCACCTCCCTCCCGGACGGGGCGGCTG
GCCCGGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGG
CTGGCCGGGCAGGGGGCTGACCCCCCCCTCCCCCCTCCCGGACGAGGCGG
CTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGC
TGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCT
GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG
CGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCC
CCACCTCCCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCC
CACCTCCCTCCTGGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTT
CCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCG
GCTGGCCGACCCCCCCCCCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGAC
GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC
GGGCAGAGGAGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG
GGCTGACCCCCCCCC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326730
chrX:68326730 T
T
 TGGGGGGG
others(635): Show 
TGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGA
GGGGCTCCTCTGCCCGGCTGGCCCCTACTGGGAAGTGAGGAGCCCCTCTG
CCCGGCCAGCCGCCCCGTCCGGGGAGGGGAGGGAGGGGGGGGGGGGGGGG
GGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCCGG
CCGCCCCTTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCCG
TCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCCGGCCAGCCGCCCAG
TCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTC
CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGGAAAGTGAG
GAGCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGT
CAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTC
AGCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGGTC
AGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGG
TCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG
 1 a0001c0001t0001g0098
a0001c0001t0001g0098
 1 NA18955.hp1
NA18955.hp1
 intron_variant MODIFIER c.155-27635_155-2763
others(646): Show 
c.155-27635_155-27634insCACCTCCCTCCCGGACGGGGCGGCTG
GCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCT
GGCCGGGCAGGGGGGCTGACCCCCCCCTCCCCCCTCCCGGACGAGGCGGC
TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCT
GGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTG
GCCGGGCAGAGGGGCTCCTCACTTTCCCCAGTAGGGGCGGCCGGGCAGAG
GCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCC
CCCACCTCCCTCCCGGACTGGGCGGCTGGCCGGGGCGGGGGGTTGACCCC
CCCACCTCCCTCCTGGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCAC
TTCCCAGTAAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGG
GCGGCTGGCCGACCCCCCCCCCCCCCCCCCCCCTCCCTCCCCTCCCCGGA
CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCCAG
CCGGGCAGAGGAGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGG
GGGCTGACCCCCCCCC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326730
chrX:68326737 A
A
 G
G
 33 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(30): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0002g0019
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0023g0037
 33 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(30): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG02071.hp1
HG02109.hp2
HG02132.hp1
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18944.hp1
NA18966.hp1
 intron_variant MODIFIER c.155-27641T>C
c.155-27641T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326737
chrX:68326741 G
G
 GC
GC
 127 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(124): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0152
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 127 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(124): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02922.hp2
HG03017.hp1
HG03209.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-27646dupG
c.155-27646dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326741
chrX:68326741 G
G
 GCCCCCCG
others(291): Show 
GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCTCCTCTGC
CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC
CCGTCCGGGAGGGAGGCGGGGGGGGGGGGGGTCGGCCAGCCGCCCCGGCC
GGGAGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG
CCCCTCTGCCCGGCCAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAA
CCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGTGGGGGGTCAGC
 1 a0001c0001t0005g0138
a0001c0001t0005g0138
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.155-27646_155-2764
others(302): Show 
c.155-27646_155-27645insGCTGACCCCCCACCTCCCTCCCGGAC
TGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTGGACG
GGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG
GGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCCCCCC
CCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT
CACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGACG
GGGCGGCTGGCCGGGCGGGGGG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326741
chrX:68326741 G
G
 GCCCCCCG
others(516): Show 
GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCTCCTCTGC
CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC
CCGTCCGGGAGGGAGGCGGGGGGGGGGGGGGTCGGCCAGCCGCCCCGGCC
GGGAGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG
CCCCTCTGCCCGGCCAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAA
CCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGTGGGGGGTCAGCC
CCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCG
GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCG
CCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCAT
CCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCTCGTC
CGGGAGGGGGGAGGGGGGGTCAGC
 1 a0001c0001t0020g0099
a0001c0001t0020g0099
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.155-27646_155-2764
others(527): Show 
c.155-27646_155-27645insGCTGACCCCCCCTCCCCCCTCCCGGA
CGAGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAT
GGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGGCG
GGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG
GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGG
CTGACCCCCCACCTCCCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGTT
GACCCCCCCACCTCCCTCCTGGACGGGGCGACTGGCCGGGCAGAGGGGCT
CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGG
CCGGGGCGGCTGGCCGACCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGG
CGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC
AGAGGAGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326741
chrX:68326746 T
T
 C
C
 32 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(29): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0002g0019
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0022g0103
a0001c0001t0023g0037
 32 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(29): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG01081.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG02071.hp1
HG02109.hp2
HG02132.hp1
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18944.hp1
NA18966.hp1
 intron_variant MODIFIER c.155-27650A>G
c.155-27650A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326746
chrX:68326750 T
T
 C
C
 30 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(27): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0002g0019
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0113
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0152
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0022g0103
a0001c0001t0023g0037
 30 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(27): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG01081.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG02071.hp1
HG02109.hp2
HG02132.hp1
HG02280.hp1
HG02451.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18944.hp1
NA18966.hp1
 intron_variant MODIFIER c.155-27654A>G
c.155-27654A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326750
chrX:68326757 G
G
 C
C
 130 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(127): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 130 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(127): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02922.hp2
HG02976.hp1
HG03017.hp1
HG03209.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-27661C>G
c.155-27661C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326757
chrX:68326759 G
G
 GC
GC
 2 a0001c0001t0001g0051
a0001c0001t0024g0007
a0001c0001t0001g0051
a0001c0001t0024g0007
 2 HG00621.hp1
NA19000.hp1
HG00621.hp1
NA19000.hp1
 intron_variant MODIFIER c.155-27664dupG
c.155-27664dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326759
chrX:68326767 C
C
 CG
CG
 129 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(126): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 129 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(126): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02922.hp2
HG02976.hp1
HG03017.hp1
HG03209.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-27672dupC
c.155-27672dupC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326767
chrX:68326769 G
G
 GGA
GGA
 1 a0001c0001t0001g0141
a0001c0001t0001g0141
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.155-27674_155-2767
others(6): Show 
c.155-27674_155-27673insTC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326769
chrX:68326770 A
A
 G
G
 1 a0001c0001t0001g0141
a0001c0001t0001g0141
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.155-27674T>C
c.155-27674T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326770
chrX:68326779 G
G
 GC
GC
 129 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(126): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 129 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(126): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02922.hp2
HG02976.hp1
HG03017.hp1
HG03209.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-27684_155-2768
others(5): Show 
c.155-27684_155-27683insG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326779
chrX:68326779 G
G
 GGC
GGC
 1 a0001c0001t0002g0006
a0001c0001t0002g0006
 1 HG02074.hp1
HG02074.hp1
 intron_variant MODIFIER c.155-27685_155-2768
others(6): Show 
c.155-27685_155-27684dupGC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326779
chrX:68326780 G
G
 T
T
 30 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(27): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0002g0019
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0113
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0152
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0022g0103
a0001c0001t0023g0037
 30 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(27): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG01081.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG02071.hp1
HG02109.hp2
HG02132.hp1
HG02280.hp1
HG02451.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18944.hp1
NA18966.hp1
 intron_variant MODIFIER c.155-27684C>A
c.155-27684C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326780
chrX:68326786 G
G
 GC
GC
 3 a0001c0001t0001g0066
a0001c0001t0002g0006
a0001c0001t0002g0115
a0001c0001t0001g0066
a0001c0001t0002g0006
a0001c0001t0002g0115
 3 HG02074.hp1
HG02145.hp1
NA18990.hp1
HG02074.hp1
HG02145.hp1
NA18990.hp1
 intron_variant MODIFIER c.155-27691dupG
c.155-27691dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326786
chrX:68326814 A
A
 AC
AC
 2 a0001c0001t0001g0048
a0001c0001t0001g0154
a0001c0001t0001g0048
a0001c0001t0001g0154
 2 HG02738.hp1
NA19005.hp1
HG02738.hp1
NA19005.hp1
 intron_variant MODIFIER c.155-27719dupG
c.155-27719dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326814
chrX:68326814 A
A
 AG
AG
 32 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(29): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0002g0019
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0022g0103
a0001c0001t0023g0037
 32 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(29): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG01081.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG02071.hp1
HG02109.hp2
HG02132.hp1
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18944.hp1
NA18966.hp1
 intron_variant MODIFIER c.155-27719_155-2771
others(5): Show 
c.155-27719_155-27718insC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326814
chrX:68326822 G
G
 GC
GC
 1 a0001c0001t0001g0098
a0001c0001t0001g0098
 1 NA18955.hp1
NA18955.hp1
 intron_variant MODIFIER c.155-27727dupG
c.155-27727dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326822
chrX:68326840 T
T
 C
C
 2 a0001c0001t0003g0139
a0001c0001t0005g0138
a0001c0001t0003g0139
a0001c0001t0005g0138
 2 HG02258.hp1
HG02976.hp1
HG02258.hp1
HG02976.hp1
 intron_variant MODIFIER c.155-27744A>G
c.155-27744A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326840
chrX:68326843 G
G
 A
A
 2 a0001c0001t0003g0139
a0001c0001t0005g0138
a0001c0001t0003g0139
a0001c0001t0005g0138
 2 HG02258.hp1
HG02976.hp1
HG02258.hp1
HG02976.hp1
 intron_variant MODIFIER c.155-27747C>T
c.155-27747C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326843
chrX:68326853 T
T
 C
C
 30 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(27): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0002g0019
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0113
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0152
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0022g0103
a0001c0001t0023g0037
 30 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(27): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG01081.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG02071.hp1
HG02109.hp2
HG02132.hp1
HG02280.hp1
HG02451.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18944.hp1
NA18966.hp1
 intron_variant MODIFIER c.155-27757A>G
c.155-27757A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326853
chrX:68326853 TG
TG
 T
T
 2 a0001c0001t0001g0090
a0001c0001t0003g0139
a0001c0001t0001g0090
a0001c0001t0003g0139
 2 HG01433.hp1
HG02258.hp1
HG01433.hp1
HG02258.hp1
 intron_variant MODIFIER c.155-27758delC
c.155-27758delC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326853
chrX:68326854 G
G
 GGGGGGGG
others(337): Show 
GGGGGGGGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCT
CTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGT
CGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCC
GCCCAGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGC
CCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAG
TGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGG
GGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGT
 1 a0001c0001t0002g0134
a0001c0001t0002g0134
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.155-27759_155-2775
others(348): Show 
c.155-27759_155-27758insACCTCCCTCCCGGATGGGGCGGCTGG
CCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGC
CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC
CCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCA
CCTCCCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCAC
CTCCCTCCTGGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCC
AGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCT
GGCCGACCCCCCCCCCCC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326854
chrX:68326860 G
G
 GGGGGGGG
others(463): Show 
GGGGGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTG
CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGC
CCCGTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCC
CAGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCC
GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA
GGAGCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGG
TCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGT
CAGCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTC
AGCCCCCTGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTG
CCCGGCCGCCCCTACTGGGAA
 1 a0001c0001t0003g0018
a0001c0001t0003g0018
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.155-27765_155-2776
others(474): Show 
c.155-27765_155-27764insTTCCCAGTAGGGGCGGCCGGGCAGAG
GCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCAGGGGGCTGACCC
CCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGGGGGCTGACCCC
CCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCC
CCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT
TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGC
GGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCCGGACTGGGCGG
CTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTGGACGGGGCGAC
TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG
GAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCCCCCCC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326860
chrX:68326860 G
G
 GGGGGGGG
others(462): Show 
GGGGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGC
CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCC
CCGTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCC
AGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCG
TCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG
GAGCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGT
CAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTC
AGCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCA
GCCCCCTGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGC
CCGGCCGCCCCTACTGGGAA
 2 a0001c0001t0002g0019
a0001c0001t0003g0020
a0001c0001t0002g0019
a0001c0001t0003g0020
 2 HG02109.hp2
HG02809.hp1
HG02109.hp2
HG02809.hp1
 intron_variant MODIFIER c.155-27765_155-2776
others(473): Show 
c.155-27765_155-27764insTTCCCAGTAGGGGCGGCCGGGCAGAG
GCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCAGGGGGCTGACCC
CCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGGGGGCTGACCCC
CCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCC
CCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT
TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGC
GGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCCGGACTGGGCGG
CTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTGGACGGGGCGAC
TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG
GAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCCCCCC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326860
chrX:68326860 G
G
 GGGGGGGG
others(462): Show 
GGGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCC
CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCC
CGTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCCGCCCGGCCAGCCGCCC
AGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCG
TCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG
GAGCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGT
CAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTC
AGCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCA
GCCCCCTGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGC
CCGGCCGCCCCTACTGGGAA
 1 a0001c0001t0001g0145
a0001c0001t0001g0145
 1 NA18944.hp1
NA18944.hp1
 intron_variant MODIFIER c.155-27765_155-2776
others(473): Show 
c.155-27765_155-27764insTTCCCAGTAGGGGCGGCCGGGCAGAG
GCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCAGGGGGCTGACCC
CCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGGGGGCTGACCCC
CCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCC
CCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT
TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGC
GGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCCGGACTGGGCGG
CTGGCCGGGCGGGGGGGTTGACCCCCCCACCTCCCTCCTGGACGGGGCGA
CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA
GGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCCCCC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326860
chrX:68326860 G
G
 GGGGGGGG
others(461): Show 
GGGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCC
CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCC
CGTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCA
GTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGT
CCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG
AGCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTC
AGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCA
GCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCAG
CCCCCTGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCC
CGGCCGCCCCTACTGGGAA
 7 a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0002g0125
others(4): Show 
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0009g0128
 7 HG00642.hp1
HG01255.hp1
HG02071.hp1
others(4): Show 
HG00642.hp1
HG01255.hp1
HG02071.hp1
HG02451.hp1
HG02717.hp1
HG02818.hp1
HG03540.hp1
 intron_variant MODIFIER c.155-27765_155-2776
others(472): Show 
c.155-27765_155-27764insTTCCCAGTAGGGGCGGCCGGGCAGAG
GCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCAGGGGGCTGACCC
CCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGGGGGCTGACCCC
CCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCC
CCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT
TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGC
GGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCCGGACTGGGCGG
CTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTGGACGGGGCGAC
TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG
GAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCCCCC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326860
chrX:68326860 G
G
 GGGGGGGG
others(461): Show 
GGGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCC
CTGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCC
CGTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCA
GTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGT
CCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG
AGCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTC
AGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCA
GCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCAG
CCCCCTGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCC
CGGCCGCCCCTACTGGGAA
 1 a0001c0001t0009g0129
a0001c0001t0009g0129
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.155-27765_155-2776
others(472): Show 
c.155-27765_155-27764insTTCCCAGTAGGGGCGGCCGGGCAGAG
GCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCAGGGGGCTGACCC
CCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGGGGGCTGACCCC
CCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCC
CCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT
TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGC
GGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCCGGACTGGGCGG
CTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTGGACGGGGCGAC
TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCAGGGCAGAG
GAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCCCCC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326860
chrX:68326860 G
G
 GGGGGGGT
others(461): Show 
GGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCC
GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCC
CGTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCA
GTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGT
CCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG
AGCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTC
AGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCA
GCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCAG
CCCCCTGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCC
CGGCCGCCCCTACTGGGAA
 1 a0001c0001t0001g0140
a0001c0001t0001g0140
 1 NA18966.hp1
NA18966.hp1
 intron_variant MODIFIER c.155-27765_155-2776
others(472): Show 
c.155-27765_155-27764insTTCCCAGTAGGGGCGGCCGGGCAGAG
GCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCAGGGGGCTGACCC
CCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGGGGGCTGACCCC
CCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCC
CCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT
TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGC
GGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCCGGACTGGGCGG
CTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTGGACGGGGGCGA
CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA
GGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCCCC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326860
chrX:68326860 G
G
 GGGGGGGT
others(462): Show 
GGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCC
GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCC
GTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCAG
TCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTC
CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA
GCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTCA
GCCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCA
GCCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCA
GCCCCCTGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGC
CCGGCCGCCCCTACTGGGAA
 1 a0001c0001t0001g0038
a0001c0001t0001g0038
 1 HG02602.hp1
HG02602.hp1
 intron_variant MODIFIER c.155-27765_155-2776
others(473): Show 
c.155-27765_155-27764insTTCCCAGTAGGGGCGGCCGGGCAGAG
GCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCAGGGGGCTGACCC
CCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGGGGGGCTGACCC
CCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGGGGGCTGACCC
CCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCA
CTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGG
GCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCCGGACTGGGC
GGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTGGACGGGGCG
ACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG
AGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCCCC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326860
chrX:68326860 G
G
 GGGGGGGT
others(460): Show 
GGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCC
GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCC
GTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCAG
TCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTC
CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA
GCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTCA
GCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAG
CCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCAGC
CCCCTGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCC
AGCCGCCCCTACTGGGAA
 2 a0001c0001t0001g0008
a0001c0001t0022g0103
a0001c0001t0001g0008
a0001c0001t0022g0103
 2 HG01081.hp1
HG01346.hp1
HG01081.hp1
HG01346.hp1
 intron_variant MODIFIER c.155-27765_155-2776
others(471): Show 
c.155-27765_155-27764insTTCCCAGTAGGGGCGGCTGGGCAGAG
GCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCAGGGGGCTGACCC
CCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGGGGGCTGACCCC
CCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCC
CCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT
TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGC
GGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCCGGACTGGGCGG
CTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTGGACGGGGCGAC
TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG
GAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCCCC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326860
chrX:68326860 G
G
 GGGGGGGT
others(461): Show 
GGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCC
GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCC
GTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCAG
TCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTC
CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA
GCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTCA
GCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAG
CCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCAGC
CCCCTGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCC
GGCCGCCCCCTACTGGGAA
 1 a0001c0001t0023g0037
a0001c0001t0023g0037
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.155-27765_155-2776
others(472): Show 
c.155-27765_155-27764insTTCCCAGTAGGGGGCGGCCGGGCAGA
GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCAGGGGGCTGACC
CCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGGGGGCTGACCC
CCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCC
CCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC
TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGG
CGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCCGGACTGGGCG
GCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTGGACGGGGCGA
CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA
GGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCCCC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326860
chrX:68326860 G
G
 GGGGGGGT
others(460): Show 
GGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCC
GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCC
GTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCAG
TCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTC
CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA
GCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTCA
GCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAG
CCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCAGC
CCCCTGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCC
GGCCGCCCCTACTGGGAA
 9 a0001c0001t0001g0143
a0001c0001t0002g0124
a0001c0001t0002g0144
others(6): Show 
a0001c0001t0001g0143
a0001c0001t0002g0124
a0001c0001t0002g0144
a0001c0001t0003g0113
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0152
a0001c0001t0016g0119
 9 HG00735.hp2
HG02132.hp1
HG02630.hp2
others(6): Show 
HG00735.hp2
HG02132.hp1
HG02630.hp2
HG02683.hp1
HG02723.hp2
HG03209.hp1
HG03490.hp1
HG03516.hp1
NA18612.hp1
 intron_variant MODIFIER c.155-27765_155-2776
others(471): Show 
c.155-27765_155-27764insTTCCCAGTAGGGGCGGCCGGGCAGAG
GCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCAGGGGGCTGACCC
CCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGGGGGCTGACCCC
CCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCC
CCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT
TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGC
GGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCCGGACTGGGCGG
CTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTGGACGGGGCGAC
TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG
GAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCCCC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326860
chrX:68326860 G
G
 GGGGGGTC
others(460): Show 
GGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCCG
GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCCG
TCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCAGT
CCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCC
GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG
CCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTCAG
CCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGC
CCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGGTCAGC
CCCCTGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCC
AGCCGCCCCTACTGGGAA
 1 a0001c0001t0001g0146
a0001c0001t0001g0146
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.155-27765_155-2776
others(471): Show 
c.155-27765_155-27764insTTCCCAGTAGGGGCGGCTGGGCAGAG
GCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCAGGGGGCTGACCC
CCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGGGGGCTGACCC
CCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCC
CCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC
TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGG
CGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCCGGACTGGGCG
GCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTGGACGGGGCGA
CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA
GGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCCC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326860
chrX:68326860 G
G
 GGGGGGTC
others(459): Show 
GGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCCG
GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCCG
TCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCAGT
CCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCC
GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG
CCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTCAG
CCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGC
CCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCAGCC
CCCTGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCG
GCCGCCCCTACTGGGAA
 2 a0001c0001t0003g0091
a0001c0001t0003g0151
a0001c0001t0003g0091
a0001c0001t0003g0151
 2 HG00099.hp2
NA18522.hp1
HG00099.hp2
NA18522.hp1
 intron_variant MODIFIER c.155-27765_155-2776
others(470): Show 
c.155-27765_155-27764insTTCCCAGTAGGGGCGGCCGGGCAGAG
GCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCAGGGGGCTGACCC
CCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGGGGGCTGACCCC
CCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCC
CCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT
TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGC
GGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCCGGACTGGGCGG
CTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTGGACGGGGCGAC
TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG
GAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCCC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326860
chrX:68326863 C
C
 G
G
 29 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(26): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0002g0019
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0113
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0152
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0022g0103
a0001c0001t0023g0037
 29 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(26): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG01081.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG02071.hp1
HG02109.hp2
HG02132.hp1
HG02280.hp1
HG02451.hp1
HG02602.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18944.hp1
NA18966.hp1
 intron_variant MODIFIER c.155-27767G>C
c.155-27767G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326863
chrX:68326865 G
G
 GC
GC
 1 a0001c0001t0024g0007
a0001c0001t0024g0007
 1 NA19000.hp1
NA19000.hp1
 intron_variant MODIFIER c.155-27770dupG
c.155-27770dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326865
chrX:68326865 G
G
 GGAC
GGAC
 29 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(26): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0002g0019
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0113
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0152
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0022g0103
a0001c0001t0023g0037
 29 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(26): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG01081.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG02071.hp1
HG02109.hp2
HG02132.hp1
HG02280.hp1
HG02451.hp1
HG02602.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18944.hp1
NA18966.hp1
 intron_variant MODIFIER c.155-27770_155-2776
others(7): Show 
c.155-27770_155-27769insGTC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326865
chrX:68326869 C
C
 T
T
 29 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(26): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0002g0019
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0113
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0152
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0022g0103
a0001c0001t0023g0037
 29 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(26): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG01081.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG02071.hp1
HG02109.hp2
HG02132.hp1
HG02280.hp1
HG02451.hp1
HG02602.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18944.hp1
NA18966.hp1
 intron_variant MODIFIER c.155-27773G>A
c.155-27773G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326869
chrX:68326871 C
C
 CCG
CCG
 1 a0001c0001t0001g0098
a0001c0001t0001g0098
 1 NA18955.hp1
NA18955.hp1
 intron_variant MODIFIER c.155-27776_155-2777
others(6): Show 
c.155-27776_155-27775insCG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326871
chrX:68326871 C
C
 CGCCTGGC
others(168): Show 
CGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC
GCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCAGCCCCCTG
CCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC
CCCTACTGGGAAGTGAGGACCCCTCT
 2 a0001c0001t0003g0139
a0001c0001t0005g0138
a0001c0001t0003g0139
a0001c0001t0005g0138
 2 HG02258.hp1
HG02976.hp1
HG02258.hp1
HG02976.hp1
 intron_variant MODIFIER c.155-27776_155-2777
others(179): Show 
c.155-27776_155-27775insAGAGGGGTCCTCACTTCCCAGTAGGG
GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGG
CAGGGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGC
GGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326871
chrX:68326871 C
C
 T
T
 29 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(26): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0002g0019
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0113
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0152
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0022g0103
a0001c0001t0023g0037
 29 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(26): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG01081.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG02071.hp1
HG02109.hp2
HG02132.hp1
HG02280.hp1
HG02451.hp1
HG02602.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18944.hp1
NA18966.hp1
 intron_variant MODIFIER c.155-27775G>A
c.155-27775G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326871
chrX:68326887 C
C
 T
T
 1 a0001c0001t0002g0134
a0001c0001t0002g0134
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.155-27791G>A
c.155-27791G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326887
chrX:68326900 A
A
 G
G
 1 a0001c0001t0002g0134
a0001c0001t0002g0134
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.155-27804T>C
c.155-27804T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326900
chrX:68326903 T
T
 A
A
 1 a0001c0001t0002g0134
a0001c0001t0002g0134
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.155-27807A>T
c.155-27807A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326903
chrX:68326910 A
A
 G
G
 1 a0001c0001t0002g0134
a0001c0001t0002g0134
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.155-27814T>C
c.155-27814T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326910
chrX:68326918 C
C
 T
T
 1 a0001c0001t0013g0042
a0001c0001t0013g0042
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.155-27822G>A
c.155-27822G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326918
chrX:68326933 G
G
 GC
GC
 1 a0001c0001t0001g0153
a0001c0001t0001g0153
 1 HG04228.hp1
HG04228.hp1
 intron_variant MODIFIER c.155-27838dupG
c.155-27838dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326933
chrX:68326934 C
C
 T
T
 2 a0001c0001t0001g0068
a0001c0001t0001g0073
a0001c0001t0001g0068
a0001c0001t0001g0073
 2 NA19066.hp1
NA19068.hp1
NA19066.hp1
NA19068.hp1
 intron_variant MODIFIER c.155-27838G>A
c.155-27838G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326934
chrX:68326956 G
G
 GCCTCTGC
others(155): Show 
GCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCGGCC
AGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCTGCCTGGCCA
GCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTG
GGAAGTGAGGACC
 1 a0001c0001t0002g0134
a0001c0001t0002g0134
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.155-27861_155-2786
others(166): Show 
c.155-27861_155-27860insGGTCCTCACTTCCCAGTAGGGGCGGC
CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCAGGG
GGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGG
GGTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326956
chrX:68326962 G
G
 GC
GC
 2 a0001c0001t0001g0044
a0001c0001t0003g0076
a0001c0001t0001g0044
a0001c0001t0003g0076
 2 HG01192.hp1
HG03942.hp1
HG01192.hp1
HG03942.hp1
 intron_variant MODIFIER c.155-27867dupG
c.155-27867dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326962
chrX:68326970 G
G
 GC
GC
 1 a0001c0001t0001g0075
a0001c0001t0001g0075
 1 NA18977.hp1
NA18977.hp1
 intron_variant MODIFIER c.155-27875dupG
c.155-27875dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326970
chrX:68326990 A
A
 AC
AC
 2 a0001c0001t0001g0029
a0001c0001t0001g0075
a0001c0001t0001g0029
a0001c0001t0001g0075
 2 NA18977.hp1
NA18988.hp1
NA18977.hp1
NA18988.hp1
 intron_variant MODIFIER c.155-27895dupG
c.155-27895dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68326990
chrX:68327001 T
T
 C
C
 45 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(42): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0115
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
 45 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(42): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG01891.hp1
HG02055.hp1
HG02071.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02976.hp1
HG03209.hp1
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18944.hp1
NA18966.hp1
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.155-27905A>G
c.155-27905A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68327001
chrX:68327022 A
A
 AG
AG
 1 a0001c0001t0001g0141
a0001c0001t0001g0141
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.155-27927dupC
c.155-27927dupC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68327022
chrX:68327029 T
T
 TG
TG
 3 a0001c0001t0001g0050
a0001c0001t0002g0006
a0001c0001t0024g0007
a0001c0001t0001g0050
a0001c0001t0002g0006
a0001c0001t0024g0007
 3 HG00609.hp1
HG02074.hp1
NA19000.hp1
HG00609.hp1
HG02074.hp1
NA19000.hp1
 intron_variant MODIFIER c.155-27934dupC
c.155-27934dupC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68327029
chrX:68327029 TG
TG
 T
T
 1 a0001c0001t0002g0054
a0001c0001t0002g0054
 1 NA18986.hp1
NA18986.hp1
 intron_variant MODIFIER c.155-27934delC
c.155-27934delC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68327029
chrX:68327041 C
C
 A
A
 1 a0001c0001t0001g0098
a0001c0001t0001g0098
 1 NA18955.hp1
NA18955.hp1
 intron_variant MODIFIER c.155-27945G>T
c.155-27945G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68327041
chrX:68327045 C
C
 T
T
 3 a0001c0001t0002g0125
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0002g0125
a0001c0001t0009g0128
a0001c0001t0009g0129
 3 HG01243.hp1
HG01255.hp1
HG02451.hp1
HG01243.hp1
HG01255.hp1
HG02451.hp1
 intron_variant MODIFIER c.155-27949G>A
c.155-27949G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68327045
chrX:68327136 G
G
 GC
GC
 129 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(126): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 129 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(126): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02922.hp2
HG02976.hp1
HG03017.hp1
HG03209.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-28041dupG
c.155-28041dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68327136
chrX:68327136 G
G
 GCC
GCC
 1 a0001c0001t0001g0029
a0001c0001t0001g0029
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.155-28042_155-2804
others(6): Show 
c.155-28042_155-28041dupGG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68327136
chrX:68327154 T
T
 TG
TG
 5 a0001c0001t0001g0039
a0001c0001t0001g0050
a0001c0001t0001g0141
others(2): Show 
a0001c0001t0001g0039
a0001c0001t0001g0050
a0001c0001t0001g0141
a0001c0001t0002g0047
a0001c0001t0024g0007
 5 HG00609.hp1
HG00673.hp1
HG01074.hp1
others(2): Show 
HG00609.hp1
HG00673.hp1
HG01074.hp1
HG02698.hp1
NA19000.hp1
 intron_variant MODIFIER c.155-28059dupC
c.155-28059dupC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68327154
chrX:68327154 TG
TG
 T
T
 1 a0001c0001t0002g0054
a0001c0001t0002g0054
 1 NA18986.hp1
NA18986.hp1
 intron_variant MODIFIER c.155-28059delC
c.155-28059delC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68327154
chrX:68327165 G
G
 GC
GC
 2 a0001c0001t0001g0086
a0001c0001t0024g0007
a0001c0001t0001g0086
a0001c0001t0024g0007
 2 NA19000.hp1
NA19060.hp1
NA19000.hp1
NA19060.hp1
 intron_variant MODIFIER c.155-28070dupG
c.155-28070dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68327165
chrX:68327165 GC
GC
 G
G
 1 a0001c0001t0002g0054
a0001c0001t0002g0054
 1 NA18986.hp1
NA18986.hp1
 intron_variant MODIFIER c.155-28070delG
c.155-28070delG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68327165
chrX:68327172 G
G
 GC
GC
 1 a0001c0001t0001g0098
a0001c0001t0001g0098
 1 NA18955.hp1
NA18955.hp1
 intron_variant MODIFIER c.155-28077dupG
c.155-28077dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68327172
chrX:68327175 CG
CG
 C
C
 1 a0001c0001t0029g0031
a0001c0001t0029g0031
 1 NA18962.hp1
NA18962.hp1
 intron_variant MODIFIER c.155-28080delC
c.155-28080delC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68327175
chrX:68327221 GC
GC
 G
G
 1 a0001c0001t0002g0054
a0001c0001t0002g0054
 1 NA18986.hp1
NA18986.hp1
 intron_variant MODIFIER c.155-28126delG
c.155-28126delG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68327221
chrX:68327255 GC
GC
 G
G
 1 a0001c0001t0001g0098
a0001c0001t0001g0098
 1 NA18955.hp1
NA18955.hp1
 intron_variant MODIFIER c.155-28160delG
c.155-28160delG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68327255
chrX:68327261 A
A
 AC
AC
 2 a0001c0001t0001g0053
a0001c0001t0003g0076
a0001c0001t0001g0053
a0001c0001t0003g0076
 2 HG01192.hp1
NA18974.hp1
HG01192.hp1
NA18974.hp1
 intron_variant MODIFIER c.155-28166dupG
c.155-28166dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68327261
chrX:68327319 G
G
 A
A
 1 a0001c0001t0020g0099
a0001c0001t0020g0099
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.155-28223C>T
c.155-28223C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68327319
chrX:68327325 G
G
 C
C
 4 a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0009g0128
others(1): Show 
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
 4 HG01243.hp1
HG01255.hp1
HG02451.hp1
others(1): Show 
HG01243.hp1
HG01255.hp1
HG02451.hp1
HG03540.hp1
 intron_variant MODIFIER c.155-28229C>G
c.155-28229C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68327325
chrX:68327352 G
G
 GA
GA
 2 a0001c0001t0001g0050
a0001c0001t0002g0115
a0001c0001t0001g0050
a0001c0001t0002g0115
 2 HG00609.hp1
HG02145.hp1
HG00609.hp1
HG02145.hp1
 intron_variant MODIFIER c.155-28257dupT
c.155-28257dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68327352
chrX:68327405 TG
TG
 T
T
 1 a0001c0001t0002g0054
a0001c0001t0002g0054
 1 NA18986.hp1
NA18986.hp1
 intron_variant MODIFIER c.155-28310delC
c.155-28310delC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68327405
chrX:68327435 G
G
 GA
GA
 1 a0001c0001t0002g0054
a0001c0001t0002g0054
 1 NA18986.hp1
NA18986.hp1
 intron_variant MODIFIER c.155-28340dupT
c.155-28340dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68327435
chrX:68327452 T
T
 TG
TG
 1 a0001c0001t0001g0029
a0001c0001t0001g0029
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.155-28357dupC
c.155-28357dupC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68327452
chrX:68327636 C
C
 T
T
 3 a0001c0001t0002g0133
a0001c0001t0007g0022
a0001c0001t0007g0033
a0001c0001t0002g0133
a0001c0001t0007g0022
a0001c0001t0007g0033
 3 HG01891.hp1
NA19030.hp1
NA19030.hp2
HG01891.hp1
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.155-28540G>A
c.155-28540G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68327636
chrX:68327781 TA
TA
 T
T
 1 a0001c0001t0001g0025
a0001c0001t0001g0025
 1 HG01515.hp1
HG01515.hp1
 intron_variant MODIFIER c.155-28686delT
c.155-28686delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68327781
chrX:68327788 T
T
 A
A
 1 a0001c0001t0003g0076
a0001c0001t0003g0076
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.155-28692A>T
c.155-28692A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68327788
chrX:68327796 AT
AT
 A
A
 1 a0001c0001t0015g0148
a0001c0001t0015g0148
 1 HG01943.hp1
HG01943.hp1
 intron_variant MODIFIER c.155-28701delA
c.155-28701delA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68327796
chrX:68327797 T
T
 TA
TA
 7 a0001c0001t0001g0027
a0001c0001t0001g0040
a0001c0001t0001g0046
others(4): Show 
a0001c0001t0001g0027
a0001c0001t0001g0040
a0001c0001t0001g0046
a0001c0001t0001g0086
a0001c0001t0001g0098
a0001c0001t0002g0006
a0001c0001t0024g0007
 7 HG01928.hp1
HG02074.hp1
NA18955.hp1
others(4): Show 
HG01928.hp1
HG02074.hp1
NA18955.hp1
NA18965.hp1
NA18994.hp1
NA19000.hp1
NA19060.hp1
 intron_variant MODIFIER c.155-28702dupT
c.155-28702dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68327797
chrX:68327797 TA
TA
 T
T
 57 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0048
others(54): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0077
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0093
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0153
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0054
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0011
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0026g0056
 57 HG00099.hp2
HG00621.hp1
HG00642.hp1
others(54): Show 
HG00099.hp2
HG00621.hp1
HG00642.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01099.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG01891.hp1
HG01952.hp1
HG02027.hp1
HG02071.hp1
HG02109.hp2
HG02132.hp1
HG02135.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02976.hp1
HG03017.hp1
HG03209.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03710.hp1
HG04115.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18944.hp1
NA18945.hp1
NA18952.hp1
NA18966.hp1
NA18986.hp1
NA18990.hp1
NA19009.hp1
NA19030.hp1
NA19030.hp2
NA19068.hp1
NA20905.hp1
 intron_variant MODIFIER c.155-28702delT
c.155-28702delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68327797
chrX:68327797 TAA
TAA
 T
T
 3 a0001c0001t0004g0026
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0004g0026
a0001c0001t0006g0120
a0001c0001t0006g0121
 3 HG01167.hp1
HG01169.hp1
NA18906.hp1
HG01167.hp1
HG01169.hp1
NA18906.hp1
 intron_variant MODIFIER c.155-28703_155-2870
others(6): Show 
c.155-28703_155-28702delTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68327797
chrX:68327804 A
A
 T
T
 1 a0001c0001t0001g0147
a0001c0001t0001g0147
 1 HG01934.hp1
HG01934.hp1
 intron_variant MODIFIER c.155-28708T>A
c.155-28708T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68327804
chrX:68327806 A
A
 T
T
 4 a0001c0001t0001g0043
a0001c0001t0001g0058
a0001c0001t0002g0047
others(1): Show 
a0001c0001t0001g0043
a0001c0001t0001g0058
a0001c0001t0002g0047
a0001c0001t0002g0083
 4 HG00673.hp1
HG02129.hp1
NA18747.hp1
others(1): Show 
HG00673.hp1
HG02129.hp1
NA18747.hp1
NA18948.hp1
 intron_variant MODIFIER c.155-28710T>A
c.155-28710T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68327806
chrX:68327807 A
A
 T
T
 33 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(30): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0002g0019
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0023g0037
 33 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(30): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG02071.hp1
HG02109.hp2
HG02132.hp1
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18944.hp1
NA18966.hp1
 intron_variant MODIFIER c.155-28711T>A
c.155-28711T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68327807
chrX:68327808 A
A
 T
T
 6 a0001c0001t0002g0123
a0001c0001t0003g0101
a0001c0001t0004g0010
others(3): Show 
a0001c0001t0002g0123
a0001c0001t0003g0101
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0003c0004t0014g0102
 6 HG02027.hp1
HG02280.hp2
HG02451.hp2
others(3): Show 
HG02027.hp1
HG02280.hp2
HG02451.hp2
HG02723.hp1
HG02886.hp1
HG02922.hp2
 intron_variant MODIFIER c.155-28712T>A
c.155-28712T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68327808
chrX:68327825 C
C
 CT
CT
 5 a0001c0001t0001g0050
a0001c0001t0001g0066
a0001c0001t0001g0098
others(2): Show 
a0001c0001t0001g0050
a0001c0001t0001g0066
a0001c0001t0001g0098
a0001c0001t0024g0007
a0001c0003t0010g0085
 5 HG00609.hp1
HG02735.hp1
NA18955.hp1
others(2): Show 
HG00609.hp1
HG02735.hp1
NA18955.hp1
NA18990.hp1
NA19000.hp1
 intron_variant MODIFIER c.155-28730dupA
c.155-28730dupA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68327825
chrX:68327825 CT
CT
 C
C
 4 a0001c0001t0001g0073
a0001c0001t0001g0077
a0001c0001t0005g0136
others(1): Show 
a0001c0001t0001g0073
a0001c0001t0001g0077
a0001c0001t0005g0136
a0001c0001t0029g0031
 4 HG02071.hp1
HG02717.hp1
NA18962.hp1
others(1): Show 
HG02071.hp1
HG02717.hp1
NA18962.hp1
NA19068.hp1
 intron_variant MODIFIER c.155-28730delA
c.155-28730delA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68327825
chrX:68327863 C
C
 T
T
 1 a0001c0001t0020g0099
a0001c0001t0020g0099
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.155-28767G>A
c.155-28767G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68327863
chrX:68327885 AG
AG
 A
A
 1 a0001c0001t0001g0040
a0001c0001t0001g0040
 1 NA18965.hp1
NA18965.hp1
 intron_variant MODIFIER c.155-28790delC
c.155-28790delC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68327885
chrX:68327916 G
G
 A
A
 3 a0001c0001t0003g0122
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0003g0122
a0001c0001t0006g0105
a0001c0001t0006g0106
 3 HG02647.hp1
HG02886.hp2
NA19043.hp1
HG02647.hp1
HG02886.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-28820C>T
c.155-28820C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68327916
chrX:68327987 G
G
 GC
GC
 1 a0001c0001t0001g0141
a0001c0001t0001g0141
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.155-28892dupG
c.155-28892dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68327987
chrX:68327996 AT
AT
 A
A
 1 a0001c0001t0001g0025
a0001c0001t0001g0025
 1 HG01515.hp1
HG01515.hp1
 intron_variant MODIFIER c.155-28901delA
c.155-28901delA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68327996
chrX:68328015 G
G
 C
C
 21 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(18): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0019g0003
a0001c0001t0030g0155
 21 HG01891.hp2
HG02109.hp1
HG02257.hp1
others(18): Show 
HG01891.hp2
HG02109.hp1
HG02257.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.155-28919C>G
c.155-28919C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68328015
chrX:68328020 G
G
 A
A
 1 a0001c0001t0001g0009
a0001c0001t0001g0009
 1 NA18995.hp1
NA18995.hp1
 intron_variant MODIFIER c.155-28924C>T
c.155-28924C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68328020
chrX:68328030 CT
CT
 C
C
 1 a0001c0001t0004g0011
a0001c0001t0004g0011
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.155-28935delA
c.155-28935delA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68328030
chrX:68328125 G
G
 A
A
 1 a0001c0001t0026g0056
a0001c0001t0026g0056
 1 NA20905.hp1
NA20905.hp1
 intron_variant MODIFIER c.155-29029C>T
c.155-29029C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68328125
chrX:68328132 C
C
 CT
CT
 35 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0048
others(32): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0048
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0098
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0002g0019
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0011
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0022g0103
a0001c0001t0023g0037
 35 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(32): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG01081.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG02071.hp1
HG02109.hp2
HG02132.hp1
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18944.hp1
NA18955.hp1
NA18966.hp1
 intron_variant MODIFIER c.155-29037dupA
c.155-29037dupA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68328132
chrX:68328132 CT
CT
 C
C
 1 a0001c0003t0010g0085
a0001c0003t0010g0085
 1 HG02735.hp1
HG02735.hp1
 intron_variant MODIFIER c.155-29037delA
c.155-29037delA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68328132
chrX:68328198 G
G
 A
A
 21 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(18): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0019g0003
a0001c0001t0030g0155
 21 HG01891.hp2
HG02109.hp1
HG02257.hp1
others(18): Show 
HG01891.hp2
HG02109.hp1
HG02257.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.155-29102C>T
c.155-29102C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68328198
chrX:68328241 G
G
 A
A
 17 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(14): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0008g0112
a0001c0001t0030g0155
 17 HG01891.hp2
HG02486.hp1
HG02572.hp1
others(14): Show 
HG01891.hp2
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.155-29145C>T
c.155-29145C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68328241
chrX:68328251 C
C
 T
T
 1 a0001c0001t0003g0065
a0001c0001t0003g0065
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.155-29155G>A
c.155-29155G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68328251
chrX:68328272 G
G
 A
A
 1 a0001c0001t0003g0122
a0001c0001t0003g0122
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.155-29176C>T
c.155-29176C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68328272
chrX:68328286 G
G
 GC
GC
 1 a0001c0001t0002g0115
a0001c0001t0002g0115
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.155-29191dupG
c.155-29191dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68328286
chrX:68328340 A
A
 G
G
 24 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(21): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0019g0003
a0001c0001t0030g0155
 24 HG01891.hp2
HG02109.hp1
HG02257.hp1
others(21): Show 
HG01891.hp2
HG02109.hp1
HG02257.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-29244T>C
c.155-29244T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68328340
chrX:68328737 AC
AC
 A
A
 1 a0001c0001t0001g0040
a0001c0001t0001g0040
 1 NA18965.hp1
NA18965.hp1
 intron_variant MODIFIER c.155-29642delG
c.155-29642delG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68328737
chrX:68329283 A
A
 C
C
 1 a0001c0001t0001g0025
a0001c0001t0001g0025
 1 HG01515.hp1
HG01515.hp1
 intron_variant MODIFIER c.155-30187T>G
c.155-30187T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68329283
chrX:68329937 C
C
 T
T
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.155-30841G>A
c.155-30841G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68329937
chrX:68330051 TTC
TTC
 T
T
 1 a0001c0001t0001g0040
a0001c0001t0001g0040
 1 NA18965.hp1
NA18965.hp1
 intron_variant MODIFIER c.155-30957_155-3095
others(6): Show 
c.155-30957_155-30956delGA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68330051
chrX:68330078 T
T
 C
C
 1 a0001c0001t0005g0152
a0001c0001t0005g0152
 1 HG02630.hp2
HG02630.hp2
 intron_variant MODIFIER c.155-30982A>G
c.155-30982A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68330078
chrX:68330354 TC
TC
 T
T
 1 a0001c0001t0001g0025
a0001c0001t0001g0025
 1 HG01515.hp1
HG01515.hp1
 intron_variant MODIFIER c.155-31259delG
c.155-31259delG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68330354
chrX:68330382 G
G
 GC
GC
 154 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(151): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 154 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(151): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-31287dupG
c.155-31287dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68330382
chrX:68330635 TA
TA
 T
T
 1 a0001c0001t0001g0092
a0001c0001t0001g0092
 1 NA18960.hp1
NA18960.hp1
 intron_variant MODIFIER c.155-31540delT
c.155-31540delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68330635
chrX:68330648 A
A
 C
C
 1 a0001c0001t0005g0110
a0001c0001t0005g0110
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.155-31552T>G
c.155-31552T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68330648
chrX:68330700 C
C
 T
T
 24 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(21): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0019g0003
a0001c0001t0030g0155
 24 HG01891.hp2
HG02109.hp1
HG02257.hp1
others(21): Show 
HG01891.hp2
HG02109.hp1
HG02257.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-31604G>A
c.155-31604G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68330700
chrX:68330722 G
G
 GA
GA
 4 a0001c0001t0001g0098
a0001c0001t0002g0014
a0001c0001t0007g0022
others(1): Show 
a0001c0001t0001g0098
a0001c0001t0002g0014
a0001c0001t0007g0022
a0001c0001t0007g0033
 4 HG03098.hp1
NA18955.hp1
NA19030.hp1
others(1): Show 
HG03098.hp1
NA18955.hp1
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.155-31627dupT
c.155-31627dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68330722
chrX:68330765 T
T
 TA
TA
 1 a0004c0005t0012g0024
a0004c0005t0012g0024
 1 HG01169.hp2
HG01169.hp2
 intron_variant MODIFIER c.155-31670dupT
c.155-31670dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68330765
chrX:68330866 T
T
 C
C
 1 a0001c0001t0011g0061
a0001c0001t0011g0061
 1 NA18982.hp1
NA18982.hp1
 intron_variant MODIFIER c.155-31770A>G
c.155-31770A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68330866
chrX:68331299 T
T
 C
C
 1 a0001c0001t0002g0115
a0001c0001t0002g0115
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.155-32203A>G
c.155-32203A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68331299
chrX:68331385 TG
TG
 T
T
 1 a0001c0001t0006g0120
a0001c0001t0006g0120
 1 HG01169.hp1
HG01169.hp1
 intron_variant MODIFIER c.155-32290delC
c.155-32290delC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68331385
chrX:68331550 G
G
 A
A
 1 a0001c0001t0029g0031
a0001c0001t0029g0031
 1 NA18962.hp1
NA18962.hp1
 intron_variant MODIFIER c.155-32454C>T
c.155-32454C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68331550
chrX:68331671 C
C
 A
A
 24 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(21): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0019g0003
a0001c0001t0030g0155
 24 HG01891.hp2
HG02109.hp1
HG02257.hp1
others(21): Show 
HG01891.hp2
HG02109.hp1
HG02257.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-32575G>T
c.155-32575G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68331671
chrX:68331730 C
C
 CA
CA
 20 a0001c0001t0001g0009
a0001c0001t0001g0016
a0001c0001t0001g0027
others(17): Show 
a0001c0001t0001g0009
a0001c0001t0001g0016
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0060
a0001c0001t0001g0069
a0001c0001t0001g0075
a0001c0001t0001g0098
a0001c0001t0001g0149
a0001c0001t0002g0047
a0001c0001t0002g0115
a0001c0001t0002g0144
a0001c0001t0004g0034
a0001c0001t0004g0095
a0001c0001t0009g0129
a0001c0001t0020g0099
a0001c0001t0023g0037
a0001c0001t0027g0072
a0001c0003t0010g0089
a0004c0005t0012g0024
 20 HG00099.hp1
HG00140.hp1
HG00673.hp1
others(17): Show 
HG00099.hp1
HG00140.hp1
HG00673.hp1
HG00738.hp1
HG01169.hp2
HG01243.hp1
HG01256.hp1
HG02015.hp1
HG02055.hp1
HG02132.hp1
HG02145.hp1
HG03516.hp1
HG03688.hp1
HG04115.hp1
NA18955.hp1
NA18977.hp1
NA18988.hp1
NA18994.hp1
NA18995.hp1
NA20805.hp1
 intron_variant MODIFIER c.155-32635dupT
c.155-32635dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68331730
chrX:68331730 CA
CA
 C
C
 19 a0001c0001t0001g0141
a0001c0001t0002g0014
a0001c0001t0002g0108
others(16): Show 
a0001c0001t0001g0141
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0011
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0120
a0001c0001t0008g0112
a0001c0001t0030g0155
 19 HG01074.hp1
HG01169.hp1
HG01891.hp2
others(16): Show 
HG01074.hp1
HG01169.hp1
HG01891.hp2
HG02280.hp2
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.155-32635delT
c.155-32635delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68331730
chrX:68331809 G
G
 A
A
 2 a0001c0001t0001g0068
a0001c0001t0001g0073
a0001c0001t0001g0068
a0001c0001t0001g0073
 2 NA19066.hp1
NA19068.hp1
NA19066.hp1
NA19068.hp1
 intron_variant MODIFIER c.155-32713C>T
c.155-32713C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68331809
chrX:68332034 C
C
 CATAA
CATAA
 3 a0001c0001t0001g0049
a0001c0001t0020g0099
a0002c0002t0003g0001
a0001c0001t0001g0049
a0001c0001t0020g0099
a0002c0002t0003g0001
 3 HG00738.hp1
NA18945.hp1
homoSapiens_chm13v2.hp1
HG00738.hp1
NA18945.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-32942_155-3293
others(8): Show 
c.155-32942_155-32939dupTTAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68332034
chrX:68332034 CATAA
CATAA
 C
C
 27 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(24): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0019g0003
a0001c0001t0030g0155
 27 HG01243.hp1
HG01255.hp1
HG01891.hp2
others(24): Show 
HG01243.hp1
HG01255.hp1
HG01891.hp2
HG02109.hp1
HG02257.hp1
HG02451.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-32942_155-3293
others(8): Show 
c.155-32942_155-32939delTTAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68332034
chrX:68332171 AATG
AATG
 A
A
 2 a0001c0001t0002g0021
a0001c0001t0007g0023
a0001c0001t0002g0021
a0001c0001t0007g0023
 2 HG02257.hp2
HG02559.hp1
HG02257.hp2
HG02559.hp1
 intron_variant MODIFIER c.155-33078_155-3307
others(7): Show 
c.155-33078_155-33076delCAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68332171
chrX:68332235 C
C
 CT
CT
 1 a0001c0001t0001g0046
a0001c0001t0001g0046
 1 HG01928.hp1
HG01928.hp1
 intron_variant MODIFIER c.155-33140dupA
c.155-33140dupA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68332235
chrX:68332455 T
T
 C
C
 1 a0001c0001t0003g0122
a0001c0001t0003g0122
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.155-33359A>G
c.155-33359A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68332455
chrX:68332464 G
G
 A
A
 2 a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0105
a0001c0001t0006g0106
 2 HG02647.hp1
HG02886.hp2
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.155-33368C>T
c.155-33368C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68332464
chrX:68332506 C
C
 T
T
 21 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(18): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0019g0003
a0001c0001t0030g0155
 21 HG01891.hp2
HG02109.hp1
HG02257.hp1
others(18): Show 
HG01891.hp2
HG02109.hp1
HG02257.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.155-33410G>A
c.155-33410G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68332506
chrX:68332802 T
T
 TA
TA
 2 a0001c0001t0001g0086
a0001c0001t0024g0007
a0001c0001t0001g0086
a0001c0001t0024g0007
 2 NA19000.hp1
NA19060.hp1
NA19000.hp1
NA19060.hp1
 intron_variant MODIFIER c.155-33707dupT
c.155-33707dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68332802
chrX:68332802 TA
TA
 T
T
 24 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(21): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0018
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0019g0003
a0001c0001t0030g0155
 24 HG01891.hp2
HG02109.hp1
HG02257.hp1
others(21): Show 
HG01891.hp2
HG02109.hp1
HG02257.hp1
HG02280.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.155-33707delT
c.155-33707delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68332802
chrX:68333139 T
T
 A
A
 1 a0001c0001t0001g0051
a0001c0001t0001g0051
 1 HG00621.hp1
HG00621.hp1
 intron_variant MODIFIER c.155-34043A>T
c.155-34043A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68333139
chrX:68333255 A
A
 AAAT
AAAT
 5 a0001c0001t0002g0021
a0001c0001t0002g0133
a0001c0001t0007g0022
others(2): Show 
a0001c0001t0002g0021
a0001c0001t0002g0133
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
 5 HG01891.hp1
HG02257.hp2
HG02559.hp1
others(2): Show 
HG01891.hp1
HG02257.hp2
HG02559.hp1
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.155-34162_155-3416
others(7): Show 
c.155-34162_155-34160dupATT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68333255
chrX:68333255 AAATAAT
AAATAAT
 A
A
 1 a0001c0001t0016g0119
a0001c0001t0016g0119
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.155-34165_155-3416
others(10): Show 
c.155-34165_155-34160delATTATT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68333255
chrX:68333258 T
T
 TAAG
TAAG
 1 a0001c0001t0003g0122
a0001c0001t0003g0122
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.155-34163_155-3416
others(7): Show 
c.155-34163_155-34162insCTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68333258
chrX:68333297 C
C
 G
G
 24 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(21): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0019g0003
a0001c0001t0030g0155
 24 HG01891.hp2
HG02109.hp1
HG02257.hp1
others(21): Show 
HG01891.hp2
HG02109.hp1
HG02257.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-34201G>C
c.155-34201G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68333297
chrX:68333365 G
G
 A
A
 1 a0001c0001t0001g0028
a0001c0001t0001g0028
 1 HG02083.hp1
HG02083.hp1
 intron_variant MODIFIER c.155-34269C>T
c.155-34269C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68333365
chrX:68333496 A
A
 G
G
 1 a0001c0001t0001g0093
a0001c0001t0001g0093
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.155-34400T>C
c.155-34400T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68333496
chrX:68333664 C
C
 T
T
 2 a0001c0001t0007g0022
a0001c0001t0007g0033
a0001c0001t0007g0022
a0001c0001t0007g0033
 2 NA19030.hp1
NA19030.hp2
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.155-34568G>A
c.155-34568G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68333664
chrX:68333671 G
G
 GCACACA
GCACACA
 2 a0001c0001t0001g0050
a0001c0001t0001g0154
a0001c0001t0001g0050
a0001c0001t0001g0154
 2 HG00609.hp1
NA19005.hp1
HG00609.hp1
NA19005.hp1
 intron_variant MODIFIER c.155-34581_155-3457
others(10): Show 
c.155-34581_155-34576dupTGTGTG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68333671
chrX:68333671 GCA
GCA
 G
G
 5 a0001c0001t0002g0134
a0001c0001t0003g0139
a0001c0001t0005g0136
others(2): Show 
a0001c0001t0002g0134
a0001c0001t0003g0139
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
 5 HG02258.hp1
HG02559.hp2
HG02717.hp1
others(2): Show 
HG02258.hp1
HG02559.hp2
HG02717.hp1
HG02818.hp1
HG02976.hp1
 intron_variant MODIFIER c.155-34577_155-3457
others(6): Show 
c.155-34577_155-34576delTG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68333671
chrX:68333673 A
A
 G
G
 24 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(21): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0019g0003
a0001c0001t0030g0155
 24 HG01891.hp2
HG02109.hp1
HG02257.hp1
others(21): Show 
HG01891.hp2
HG02109.hp1
HG02257.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-34577T>C
c.155-34577T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68333673
chrX:68333688 G
G
 GAC
GAC
 1 a0001c0001t0002g0124
a0001c0001t0002g0124
 1 NA18612.hp1
NA18612.hp1
 intron_variant MODIFIER c.155-34594_155-3459
others(6): Show 
c.155-34594_155-34593dupGT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68333688
chrX:68333767 G
G
 A
A
 1 a0001c0001t0001g0049
a0001c0001t0001g0049
 1 NA18945.hp1
NA18945.hp1
 intron_variant MODIFIER c.155-34671C>T
c.155-34671C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68333767
chrX:68333891 A
A
 AT
AT
 5 a0001c0001t0001g0027
a0001c0001t0001g0059
a0001c0001t0001g0066
others(2): Show 
a0001c0001t0001g0027
a0001c0001t0001g0059
a0001c0001t0001g0066
a0001c0001t0001g0069
a0004c0005t0012g0024
 5 HG00140.hp1
HG01169.hp2
HG01261.hp1
others(2): Show 
HG00140.hp1
HG01169.hp2
HG01261.hp1
NA18990.hp1
NA18994.hp1
 intron_variant MODIFIER c.155-34796dupA
c.155-34796dupA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68333891
chrX:68333906 TTTG
TTTG
 T
T
 1 a0001c0001t0005g0110
a0001c0001t0005g0110
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.155-34813_155-3481
others(7): Show 
c.155-34813_155-34811delCAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68333906
chrX:68333907 TTG
TTG
 T
T
 21 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(18): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0138
a0001c0001t0006g0013
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0030g0155
 21 HG00738.hp1
HG01891.hp2
HG02109.hp1
others(18): Show 
HG00738.hp1
HG01891.hp2
HG02109.hp1
HG02257.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.155-34813_155-3481
others(6): Show 
c.155-34813_155-34812delCA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68333907
chrX:68333908 TG
TG
 T
T
 42 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(39): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0002g0021
a0001c0001t0002g0115
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0113
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0004g0005
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
 42 HG00099.hp2
HG00280.hp1
HG00642.hp1
others(39): Show 
HG00099.hp2
HG00280.hp1
HG00642.hp1
HG00735.hp2
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG01891.hp1
HG02055.hp1
HG02071.hp1
HG02132.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02818.hp1
HG02886.hp2
HG03130.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03540.hp1
HG04115.hp1
NA18612.hp1
NA18906.hp1
NA18944.hp1
NA18966.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-34813delC
c.155-34813delC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68333908
chrX:68333909 G
G
 T
T
 90 a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
others(87): Show 
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0141
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0019
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0123
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0151
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0152
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0017g0036
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 90 HG00099.hp1
HG00140.hp1
HG00609.hp1
others(87): Show 
HG00099.hp1
HG00140.hp1
HG00609.hp1
HG00621.hp1
HG00673.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02135.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02615.hp2
HG02630.hp2
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02886.hp1
HG02922.hp2
HG03017.hp1
HG03209.hp1
HG03516.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18747.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-34813C>A
c.155-34813C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68333909
chrX:68333921 C
C
 G
G
 154 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(151): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 154 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(151): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-34825G>C
c.155-34825G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68333921
chrX:68333943 C
C
 G
G
 24 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(21): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0019g0003
a0001c0001t0030g0155
 24 HG01891.hp2
HG02109.hp1
HG02257.hp1
others(21): Show 
HG01891.hp2
HG02109.hp1
HG02257.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-34847G>C
c.155-34847G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68333943
chrX:68334029 C
C
 G
G
 1 a0001c0001t0001g0154
a0001c0001t0001g0154
 1 NA19005.hp1
NA19005.hp1
 intron_variant MODIFIER c.155-34933G>C
c.155-34933G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68334029
chrX:68334207 T
T
 C
C
 24 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(21): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0019g0003
a0001c0001t0030g0155
 24 HG01891.hp2
HG02109.hp1
HG02257.hp1
others(21): Show 
HG01891.hp2
HG02109.hp1
HG02257.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-35111A>G
c.155-35111A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68334207
chrX:68334511 G
G
 A
A
 3 a0001c0001t0002g0019
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0002g0019
a0001c0001t0003g0018
a0001c0001t0003g0020
 3 HG02109.hp2
HG02280.hp1
HG02809.hp1
HG02109.hp2
HG02280.hp1
HG02809.hp1
 intron_variant MODIFIER c.155-35415C>T
c.155-35415C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68334511
chrX:68334529 A
A
 G
G
 1 a0001c0001t0001g0141
a0001c0001t0001g0141
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.155-35433T>C
c.155-35433T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68334529
chrX:68334535 G
G
 A
A
 2 a0001c0001t0002g0124
a0001c0001t0002g0144
a0001c0001t0002g0124
a0001c0001t0002g0144
 2 HG02132.hp1
NA18612.hp1
HG02132.hp1
NA18612.hp1
 intron_variant MODIFIER c.155-35439C>T
c.155-35439C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68334535
chrX:68334628 TA
TA
 T
T
 1 a0001c0001t0001g0040
a0001c0001t0001g0040
 1 NA18965.hp1
NA18965.hp1
 intron_variant MODIFIER c.155-35533delT
c.155-35533delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68334628
chrX:68334710 T
T
 G
G
 1 a0001c0001t0001g0147
a0001c0001t0001g0147
 1 HG01934.hp1
HG01934.hp1
 intron_variant MODIFIER c.155-35614A>C
c.155-35614A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68334710
chrX:68334975 C
C
 CAATT
CAATT
 1 a0001c0001t0003g0122
a0001c0001t0003g0122
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.155-35883_155-3588
others(8): Show 
c.155-35883_155-35880dupAATT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68334975
chrX:68334975 CAATT
CAATT
 C
C
 4 a0001c0001t0001g0071
a0001c0001t0003g0063
a0001c0001t0003g0101
others(1): Show 
a0001c0001t0001g0071
a0001c0001t0003g0063
a0001c0001t0003g0101
a0001c0001t0006g0013
 4 HG00642.hp1
HG02630.hp1
HG02723.hp1
others(1): Show 
HG00642.hp1
HG02630.hp1
HG02723.hp1
HG04199.hp1
 intron_variant MODIFIER c.155-35883_155-3588
others(8): Show 
c.155-35883_155-35880delAATT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68334975
chrX:68334994 T
T
 C
C
 2 a0001c0001t0001g0053
a0001c0001t0015g0148
a0001c0001t0001g0053
a0001c0001t0015g0148
 2 HG01943.hp1
NA18974.hp1
HG01943.hp1
NA18974.hp1
 intron_variant MODIFIER c.155-35898A>G
c.155-35898A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68334994
chrX:68335082 C
C
 T
T
 1 a0001c0001t0006g0013
a0001c0001t0006g0013
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.155-35986G>A
c.155-35986G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68335082
chrX:68335169 TA
TA
 T
T
 69 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0040
others(66): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0040
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0030g0155
 69 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(66): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18965.hp1
NA18966.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-36074delT
c.155-36074delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68335169
chrX:68335181 A
A
 G
G
 1 a0001c0001t0005g0107
a0001c0001t0005g0107
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.155-36085T>C
c.155-36085T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68335181
chrX:68335181 A
A
 T
T
 1 a0001c0001t0002g0125
a0001c0001t0002g0125
 1 HG01255.hp1
HG01255.hp1
 intron_variant MODIFIER c.155-36085T>A
c.155-36085T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68335181
chrX:68335182 G
G
 C
C
 1 a0001c0001t0005g0107
a0001c0001t0005g0107
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.155-36086C>G
c.155-36086C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68335182
chrX:68335183 C
C
 CG
CG
 1 a0001c0001t0024g0007
a0001c0001t0024g0007
 1 NA19000.hp1
NA19000.hp1
 intron_variant MODIFIER c.155-36088dupC
c.155-36088dupC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68335183
chrX:68335183 C
C
 G
G
 1 a0001c0001t0005g0107
a0001c0001t0005g0107
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.155-36087G>C
c.155-36087G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68335183
chrX:68335195 C
C
 T
T
 1 a0003c0004t0014g0102
a0003c0004t0014g0102
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.155-36099G>A
c.155-36099G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68335195
chrX:68335209 T
T
 A
A
 69 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(66): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0030g0155
 69 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(66): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18966.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-36113A>T
c.155-36113A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68335209
chrX:68335271 AC
AC
 A
A
 1 a0001c0001t0001g0040
a0001c0001t0001g0040
 1 NA18965.hp1
NA18965.hp1
 intron_variant MODIFIER c.155-36176delG
c.155-36176delG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68335271
chrX:68335301 GC
GC
 G
G
 1 a0001c0001t0001g0040
a0001c0001t0001g0040
 1 NA18965.hp1
NA18965.hp1
 intron_variant MODIFIER c.155-36206delG
c.155-36206delG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68335301
chrX:68335337 A
A
 G
G
 24 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(21): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0019g0003
a0001c0001t0030g0155
 24 HG01891.hp2
HG02109.hp1
HG02257.hp1
others(21): Show 
HG01891.hp2
HG02109.hp1
HG02257.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-36241T>C
c.155-36241T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68335337
chrX:68335446 A
A
 T
T
 1 a0001c0001t0003g0122
a0001c0001t0003g0122
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.155-36350T>A
c.155-36350T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68335446
chrX:68335781 T
T
 C
C
 1 a0001c0001t0001g0153
a0001c0001t0001g0153
 1 HG04228.hp1
HG04228.hp1
 intron_variant MODIFIER c.155-36685A>G
c.155-36685A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68335781
chrX:68336283 G
G
 A
A
 1 a0001c0001t0001g0153
a0001c0001t0001g0153
 1 HG04228.hp1
HG04228.hp1
 intron_variant MODIFIER c.155-37187C>T
c.155-37187C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68336283
chrX:68336653 C
C
 CGT
CGT
 1 a0001c0001t0003g0065
a0001c0001t0003g0065
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.155-37559_155-3755
others(6): Show 
c.155-37559_155-37558dupAC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68336653
chrX:68336673 A
A
 AGT
AGT
 1 a0001c0001t0003g0063
a0001c0001t0003g0063
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.155-37579_155-3757
others(6): Show 
c.155-37579_155-37578dupAC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68336673
chrX:68336673 AGT
AGT
 A
A
 67 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(64): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0023g0037
a0001c0001t0030g0155
 67 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(64): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18966.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-37579_155-3757
others(6): Show 
c.155-37579_155-37578delAC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68336673
chrX:68336734 A
A
 G
G
 5 a0001c0001t0002g0021
a0001c0001t0002g0133
a0001c0001t0007g0022
others(2): Show 
a0001c0001t0002g0021
a0001c0001t0002g0133
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
 5 HG01891.hp1
HG02257.hp2
HG02559.hp1
others(2): Show 
HG01891.hp1
HG02257.hp2
HG02559.hp1
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.155-37638T>C
c.155-37638T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68336734
chrX:68337069 G
G
 A
A
 1 a0001c0001t0003g0122
a0001c0001t0003g0122
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.155-37973C>T
c.155-37973C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68337069
chrX:68337129 G
G
 A
A
 1 a0001c0001t0003g0101
a0001c0001t0003g0101
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.155-38033C>T
c.155-38033C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68337129
chrX:68337200 TA
TA
 T
T
 5 a0001c0001t0002g0021
a0001c0001t0002g0133
a0001c0001t0007g0022
others(2): Show 
a0001c0001t0002g0021
a0001c0001t0002g0133
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
 5 HG01891.hp1
HG02257.hp2
HG02559.hp1
others(2): Show 
HG01891.hp1
HG02257.hp2
HG02559.hp1
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.155-38105delT
c.155-38105delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68337200
chrX:68337528 G
G
 GT
GT
 1 a0001c0001t0001g0027
a0001c0001t0001g0027
 1 NA18994.hp1
NA18994.hp1
 intron_variant MODIFIER c.155-38433dupA
c.155-38433dupA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68337528
chrX:68337796 C
C
 CA
CA
 3 a0001c0001t0001g0027
a0001c0001t0001g0069
a0001c0001t0002g0057
a0001c0001t0001g0027
a0001c0001t0001g0069
a0001c0001t0002g0057
 3 HG00140.hp1
NA18994.hp1
NA19012.hp1
HG00140.hp1
NA18994.hp1
NA19012.hp1
 intron_variant MODIFIER c.155-38701dupT
c.155-38701dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68337796
chrX:68337796 CA
CA
 C
C
 43 a0001c0001t0001g0008
a0001c0001t0001g0016
a0001c0001t0001g0038
others(40): Show 
a0001c0001t0001g0008
a0001c0001t0001g0016
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0113
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0011
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0120
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0029g0031
 43 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(40): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01169.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01346.hp1
HG01891.hp1
HG02071.hp1
HG02109.hp2
HG02132.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18944.hp1
NA18962.hp1
NA18966.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-38701delT
c.155-38701delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68337796
chrX:68337875 C
C
 A
A
 1 a0001c0001t0007g0032
a0001c0001t0007g0032
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.155-38779G>T
c.155-38779G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68337875
chrX:68338018 T
T
 A
A
 1 a0001c0001t0003g0122
a0001c0001t0003g0122
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.155-38922A>T
c.155-38922A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68338018
chrX:68338918 T
T
 TA
TA
 1 a0001c0001t0003g0018
a0001c0001t0003g0018
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.155-39823dupT
c.155-39823dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68338918
chrX:68339077 G
G
 GA
GA
 1 a0004c0005t0012g0024
a0004c0005t0012g0024
 1 HG01169.hp2
HG01169.hp2
 intron_variant MODIFIER c.155-39982dupT
c.155-39982dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68339077
chrX:68339077 GA
GA
 G
G
 7 a0001c0001t0001g0071
a0001c0001t0002g0125
a0001c0001t0002g0127
others(4): Show 
a0001c0001t0001g0071
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0003g0122
a0001c0001t0004g0005
a0001c0001t0009g0128
a0001c0001t0009g0129
 7 HG00642.hp1
HG00735.hp2
HG01243.hp1
others(4): Show 
HG00642.hp1
HG00735.hp2
HG01243.hp1
HG01255.hp1
HG02451.hp1
HG03540.hp1
NA19043.hp1
 intron_variant MODIFIER c.155-39982delT
c.155-39982delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68339077
chrX:68339085 A
A
 AAAATATA
others(26): Show 
AAAATATATATATATATATATTTATATATATATG
 1 a0001c0001t0003g0081
a0001c0001t0003g0081
 1 HG03492.hp1
HG03492.hp1
 intron_variant MODIFIER c.155-40022_155-3999
others(37): Show 
c.155-40022_155-39990dupCATATATATATAAATATATATATATA
TATATTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68339085
chrX:68339085 A
A
 AAT
AAT
 3 a0001c0001t0002g0133
a0001c0001t0007g0022
a0001c0001t0007g0033
a0001c0001t0002g0133
a0001c0001t0007g0022
a0001c0001t0007g0033
 3 HG01891.hp1
NA19030.hp1
NA19030.hp2
HG01891.hp1
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.155-39990_155-3998
others(6): Show 
c.155-39990_155-39989insAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68339085
chrX:68339086 AAAT
AAAT
 A
A
 20 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(17): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0019g0003
a0001c0001t0030g0155
 20 HG01891.hp2
HG02109.hp1
HG02257.hp1
others(17): Show 
HG01891.hp2
HG02109.hp1
HG02257.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02809.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.155-39993_155-3999
others(7): Show 
c.155-39993_155-39991delATT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68339086
chrX:68339087 A
A
 AAT
AAT
 1 a0001c0001t0005g0152
a0001c0001t0005g0152
 1 HG02630.hp2
HG02630.hp2
 intron_variant MODIFIER c.155-39993_155-3999
others(6): Show 
c.155-39993_155-39992dupAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68339087
chrX:68339087 A
A
 T
T
 43 a0001c0001t0001g0008
a0001c0001t0001g0016
a0001c0001t0001g0038
others(40): Show 
a0001c0001t0001g0008
a0001c0001t0001g0016
a0001c0001t0001g0038
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0062
a0001c0001t0001g0067
a0001c0001t0001g0074
a0001c0001t0001g0088
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0002g0019
a0001c0001t0002g0115
a0001c0001t0002g0124
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0139
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0033
a0001c0001t0016g0119
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0025g0087
 43 HG00738.hp1
HG01069.hp1
HG01081.hp1
others(40): Show 
HG00738.hp1
HG01069.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01891.hp1
HG02055.hp1
HG02056.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02258.hp1
HG02280.hp1
HG02559.hp2
HG02602.hp1
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02976.hp1
HG03209.hp1
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03942.hp1
HG04115.hp1
NA18612.hp1
NA18906.hp1
NA18943.hp1
NA18944.hp1
NA18952.hp1
NA18966.hp1
NA19009.hp1
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.155-39991T>A
c.155-39991T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68339087
chrX:68339088 ATAT
ATAT
 A
A
 1 a0001c0001t0008g0112
a0001c0001t0008g0112
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.155-39995_155-3999
others(7): Show 
c.155-39995_155-39993delATA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68339088
chrX:68339089 T
T
 A
A
 1 a0001c0001t0001g0051
a0001c0001t0001g0051
 1 HG00621.hp1
HG00621.hp1
 intron_variant MODIFIER c.155-39993A>T
c.155-39993A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68339089
chrX:68339245 GA
GA
 G
G
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.155-40150delT
c.155-40150delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68339245
chrX:68339452 T
T
 G
G
 2 a0002c0002t0001g0002
a0002c0002t0003g0001
a0002c0002t0001g0002
a0002c0002t0003g0001
 2 HG01358.hp1
homoSapiens_chm13v2.hp1
HG01358.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-40356A>C
c.155-40356A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68339452
chrX:68339622 T
T
 G
G
 1 a0001c0001t0002g0125
a0001c0001t0002g0125
 1 HG01255.hp1
HG01255.hp1
 intron_variant MODIFIER c.155-40526A>C
c.155-40526A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68339622
chrX:68340173 C
C
 A
A
 2 a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0054
a0001c0001t0002g0055
 2 NA18983.hp1
NA18986.hp1
NA18983.hp1
NA18986.hp1
 intron_variant MODIFIER c.155-41077G>T
c.155-41077G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68340173
chrX:68340249 T
T
 C
C
 2 a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0105
a0001c0001t0006g0106
 2 HG02647.hp1
HG02886.hp2
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.155-41153A>G
c.155-41153A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68340249
chrX:68340428 T
T
 C
C
 1 a0001c0001t0020g0099
a0001c0001t0020g0099
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.155-41332A>G
c.155-41332A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68340428
chrX:68340585 T
T
 TA
TA
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.155-41490dupT
c.155-41490dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68340585
chrX:68341006 G
G
 GA
GA
 2 a0001c0001t0003g0076
a0001c0001t0019g0003
a0001c0001t0003g0076
a0001c0001t0019g0003
 2 HG01192.hp1
HG02809.hp2
HG01192.hp1
HG02809.hp2
 intron_variant MODIFIER c.155-41911dupT
c.155-41911dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68341006
chrX:68341006 GA
GA
 G
G
 2 a0001c0001t0001g0016
a0001c0001t0030g0155
a0001c0001t0001g0016
a0001c0001t0030g0155
 2 HG01256.hp1
HG02895.hp1
HG01256.hp1
HG02895.hp1
 intron_variant MODIFIER c.155-41911delT
c.155-41911delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68341006
chrX:68341076 C
C
 CA
CA
 8 a0001c0001t0001g0051
a0001c0001t0003g0101
a0001c0001t0004g0010
others(5): Show 
a0001c0001t0001g0051
a0001c0001t0003g0101
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0006g0105
a0001c0001t0006g0106
a0003c0004t0014g0102
 8 HG00621.hp1
HG02280.hp2
HG02451.hp2
others(5): Show 
HG00621.hp1
HG02280.hp2
HG02451.hp2
HG02647.hp1
HG02723.hp1
HG02886.hp1
HG02886.hp2
HG02922.hp2
 intron_variant MODIFIER c.155-41981dupT
c.155-41981dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68341076
chrX:68341076 C
C
 CAA
CAA
 1 a0001c0001t0003g0122
a0001c0001t0003g0122
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.155-41982_155-4198
others(6): Show 
c.155-41982_155-41981dupTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68341076
chrX:68341076 CA
CA
 C
C
 1 a0001c0001t0002g0115
a0001c0001t0002g0115
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.155-41981delT
c.155-41981delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68341076
chrX:68341326 C
C
 CA
CA
 40 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0066
others(37): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0066
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0023g0037
 40 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(37): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG01891.hp1
HG02027.hp1
HG02071.hp1
HG02109.hp2
HG02132.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18944.hp1
NA18966.hp1
NA18990.hp1
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.155-42231dupT
c.155-42231dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68341326
chrX:68341434 G
G
 A
A
 7 a0001c0001t0002g0115
a0001c0001t0004g0026
a0001c0001t0004g0030
others(4): Show 
a0001c0001t0002g0115
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0021g0150
 7 HG01081.hp2
HG01167.hp1
HG01169.hp1
others(4): Show 
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG02055.hp1
HG02145.hp1
HG03471.hp1
NA18906.hp1
 intron_variant MODIFIER c.155-42338C>T
c.155-42338C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68341434
chrX:68341675 A
A
 G
G
 2 a0001c0001t0001g0075
a0001c0001t0002g0057
a0001c0001t0001g0075
a0001c0001t0002g0057
 2 NA18977.hp1
NA19012.hp1
NA18977.hp1
NA19012.hp1
 intron_variant MODIFIER c.155-42579T>C
c.155-42579T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68341675
chrX:68341703 C
C
 G
G
 24 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(21): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0019g0003
a0001c0001t0030g0155
 24 HG01891.hp2
HG02109.hp1
HG02257.hp1
others(21): Show 
HG01891.hp2
HG02109.hp1
HG02257.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-42607G>C
c.155-42607G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68341703
chrX:68341968 G
G
 GT
GT
 16 a0001c0001t0001g0027
a0001c0001t0001g0044
a0001c0001t0001g0046
others(13): Show 
a0001c0001t0001g0027
a0001c0001t0001g0044
a0001c0001t0001g0046
a0001c0001t0001g0066
a0001c0001t0001g0088
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0134
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0009g0129
a0002c0002t0001g0002
 16 HG00673.hp1
HG01243.hp1
HG01358.hp1
others(13): Show 
HG00673.hp1
HG01243.hp1
HG01358.hp1
HG01928.hp1
HG02056.hp1
HG02257.hp2
HG02559.hp1
HG02559.hp2
HG02717.hp1
HG02818.hp1
HG02976.hp1
HG03942.hp1
NA18990.hp1
NA18994.hp1
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.155-42873dupA
c.155-42873dupA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68341968
chrX:68341968 G
G
 GTT
GTT
 2 a0001c0001t0002g0133
a0001c0001t0003g0139
a0001c0001t0002g0133
a0001c0001t0003g0139
 2 HG01891.hp1
HG02258.hp1
HG01891.hp1
HG02258.hp1
 intron_variant MODIFIER c.155-42874_155-4287
others(6): Show 
c.155-42874_155-42873dupAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68341968
chrX:68341968 GT
GT
 G
G
 11 a0001c0001t0001g0040
a0001c0001t0003g0101
a0001c0001t0004g0010
others(8): Show 
a0001c0001t0001g0040
a0001c0001t0003g0101
a0001c0001t0004g0010
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0021g0150
a0003c0004t0014g0102
 11 HG01081.hp2
HG01167.hp1
HG01169.hp1
others(8): Show 
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG02055.hp1
HG02451.hp2
HG02723.hp1
HG02886.hp1
HG02922.hp2
HG03471.hp1
NA18906.hp1
NA18965.hp1
 intron_variant MODIFIER c.155-42873delA
c.155-42873delA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68341968
chrX:68341968 GTT
GTT
 G
G
 3 a0001c0001t0002g0115
a0001c0001t0005g0107
a0001c0001t0006g0106
a0001c0001t0002g0115
a0001c0001t0005g0107
a0001c0001t0006g0106
 3 HG02145.hp1
HG02486.hp1
HG02647.hp1
HG02145.hp1
HG02486.hp1
HG02647.hp1
 intron_variant MODIFIER c.155-42874_155-4287
others(6): Show 
c.155-42874_155-42873delAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68341968
chrX:68341968 GTTT
GTTT
 G
G
 22 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(19): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0019g0003
a0001c0001t0030g0155
 22 HG01891.hp2
HG02109.hp1
HG02257.hp1
others(19): Show 
HG01891.hp2
HG02109.hp1
HG02257.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-42875_155-4287
others(7): Show 
c.155-42875_155-42873delAAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68341968
chrX:68341971 T
T
 G
G
 1 a0001c0001t0006g0106
a0001c0001t0006g0106
 1 HG02647.hp1
HG02647.hp1
 intron_variant MODIFIER c.155-42875A>C
c.155-42875A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68341971
chrX:68341972 T
T
 G
G
 1 a0001c0001t0006g0105
a0001c0001t0006g0105
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.155-42876A>C
c.155-42876A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68341972
chrX:68342028 G
G
 A
A
 5 a0001c0001t0002g0021
a0001c0001t0002g0133
a0001c0001t0007g0022
others(2): Show 
a0001c0001t0002g0021
a0001c0001t0002g0133
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
 5 HG01891.hp1
HG02257.hp2
HG02559.hp1
others(2): Show 
HG01891.hp1
HG02257.hp2
HG02559.hp1
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.155-42932C>T
c.155-42932C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68342028
chrX:68342105 G
G
 A
A
 38 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(35): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0023g0037
 38 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(35): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG01891.hp1
HG02071.hp1
HG02109.hp2
HG02132.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18944.hp1
NA18966.hp1
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.155-43009C>T
c.155-43009C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68342105
chrX:68342137 T
T
 C
C
 2 a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0105
a0001c0001t0006g0106
 2 HG02647.hp1
HG02886.hp2
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.155-43041A>G
c.155-43041A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68342137
chrX:68342483 C
C
 T
T
 18 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(15): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0007g0032
a0001c0001t0008g0112
a0001c0001t0030g0155
 18 HG01891.hp2
HG02486.hp1
HG02572.hp1
others(15): Show 
HG01891.hp2
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.155-43387G>A
c.155-43387G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68342483
chrX:68342802 G
G
 C
C
 24 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(21): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0019g0003
a0001c0001t0030g0155
 24 HG01891.hp2
HG02109.hp1
HG02257.hp1
others(21): Show 
HG01891.hp2
HG02109.hp1
HG02257.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-43706C>G
c.155-43706C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68342802
chrX:68342977 G
G
 A
A
 18 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(15): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0007g0032
a0001c0001t0008g0112
a0001c0001t0030g0155
 18 HG01891.hp2
HG02486.hp1
HG02572.hp1
others(15): Show 
HG01891.hp2
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.155-43881C>T
c.155-43881C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68342977
chrX:68343024 G
G
 A
A
 1 a0001c0001t0007g0032
a0001c0001t0007g0032
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.155-43928C>T
c.155-43928C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68343024
chrX:68343222 C
C
 G
G
 1 a0001c0001t0001g0077
a0001c0001t0001g0077
 1 HG02071.hp1
HG02071.hp1
 intron_variant MODIFIER c.155-44126G>C
c.155-44126G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68343222
chrX:68343274 C
C
 CA
CA
 39 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(36): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0115
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0023g0037
 39 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(36): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG01891.hp1
HG02071.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18944.hp1
NA18966.hp1
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.155-44179dupT
c.155-44179dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68343274
chrX:68343274 CA
CA
 C
C
 21 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(18): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0030g0155
 21 HG01891.hp2
HG02109.hp1
HG02257.hp1
others(18): Show 
HG01891.hp2
HG02109.hp1
HG02257.hp1
HG02486.hp1
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.155-44179delT
c.155-44179delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68343274
chrX:68343285 A
A
 G
G
 2 a0001c0001t0003g0118
a0001c0001t0019g0003
a0001c0001t0003g0118
a0001c0001t0019g0003
 2 HG02572.hp1
HG02809.hp2
HG02572.hp1
HG02809.hp2
 intron_variant MODIFIER c.155-44189T>C
c.155-44189T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68343285
chrX:68343286 G
G
 C
C
 2 a0001c0001t0003g0118
a0001c0001t0019g0003
a0001c0001t0003g0118
a0001c0001t0019g0003
 2 HG02572.hp1
HG02809.hp2
HG02572.hp1
HG02809.hp2
 intron_variant MODIFIER c.155-44190C>G
c.155-44190C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68343286
chrX:68343287 C
C
 CG
CG
 2 a0001c0001t0001g0048
a0001c0001t0001g0053
a0001c0001t0001g0048
a0001c0001t0001g0053
 2 HG02738.hp1
NA18974.hp1
HG02738.hp1
NA18974.hp1
 intron_variant MODIFIER c.155-44192dupC
c.155-44192dupC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68343287
chrX:68343287 C
C
 G
G
 2 a0001c0001t0003g0118
a0001c0001t0019g0003
a0001c0001t0003g0118
a0001c0001t0019g0003
 2 HG02572.hp1
HG02809.hp2
HG02572.hp1
HG02809.hp2
 intron_variant MODIFIER c.155-44191G>C
c.155-44191G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68343287
chrX:68343287 CG
CG
 C
C
 2 a0001c0001t0003g0122
a0001c0001t0029g0031
a0001c0001t0003g0122
a0001c0001t0029g0031
 2 NA18962.hp1
NA19043.hp1
NA18962.hp1
NA19043.hp1
 intron_variant MODIFIER c.155-44192delC
c.155-44192delC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68343287
chrX:68343529 G
G
 A
A
 24 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(21): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0019g0003
a0001c0001t0030g0155
 24 HG01891.hp2
HG02109.hp1
HG02257.hp1
others(21): Show 
HG01891.hp2
HG02109.hp1
HG02257.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-44433C>T
c.155-44433C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68343529
chrX:68343629 T
T
 C
C
 30 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(27): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0019g0003
a0001c0001t0021g0150
a0001c0001t0030g0155
 30 HG01081.hp2
HG01167.hp1
HG01169.hp1
others(27): Show 
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01891.hp2
HG02055.hp1
HG02109.hp1
HG02257.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03471.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp1
NA18906.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-44533A>G
c.155-44533A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68343629
chrX:68343658 C
C
 T
T
 24 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(21): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0019g0003
a0001c0001t0030g0155
 24 HG01891.hp2
HG02109.hp1
HG02257.hp1
others(21): Show 
HG01891.hp2
HG02109.hp1
HG02257.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-44562G>A
c.155-44562G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68343658
chrX:68343741 C
C
 T
T
 1 a0001c0001t0016g0119
a0001c0001t0016g0119
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.155-44645G>A
c.155-44645G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68343741
chrX:68344107 G
G
 A
A
 3 a0001c0001t0004g0004
a0001c0001t0008g0096
a0001c0001t0019g0003
a0001c0001t0004g0004
a0001c0001t0008g0096
a0001c0001t0019g0003
 3 HG02109.hp1
HG02257.hp1
HG02809.hp2
HG02109.hp1
HG02257.hp1
HG02809.hp2
 intron_variant MODIFIER c.155-45011C>T
c.155-45011C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68344107
chrX:68344163 T
T
 C
C
 2 a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0105
a0001c0001t0006g0106
 2 HG02647.hp1
HG02886.hp2
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.155-45067A>G
c.155-45067A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68344163
chrX:68344436 AC
AC
 A
A
 1 a0001c0001t0013g0042
a0001c0001t0013g0042
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.155-45341delG
c.155-45341delG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68344436
chrX:68344440 C
C
 T
T
 1 a0001c0001t0001g0080
a0001c0001t0001g0080
 1 HG03017.hp1
HG03017.hp1
 intron_variant MODIFIER c.155-45344G>A
c.155-45344G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68344440
chrX:68344505 A
A
 G
G
 45 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(42): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0115
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
 45 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(42): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG01891.hp1
HG02055.hp1
HG02071.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02976.hp1
HG03209.hp1
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18944.hp1
NA18966.hp1
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.155-45409T>C
c.155-45409T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68344505
chrX:68344577 A
A
 T
T
 1 a0001c0001t0004g0117
a0001c0001t0004g0117
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.155-45481T>A
c.155-45481T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68344577
chrX:68344639 T
T
 A
A
 45 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(42): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0115
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
 45 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(42): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG01891.hp1
HG02055.hp1
HG02071.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02976.hp1
HG03209.hp1
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18944.hp1
NA18966.hp1
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.155-45543A>T
c.155-45543A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68344639
chrX:68344974 G
G
 T
T
 1 a0001c0001t0003g0122
a0001c0001t0003g0122
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.155-45878C>A
c.155-45878C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68344974
chrX:68345474 C
C
 CA
CA
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.155-46379dupT
c.155-46379dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68345474
chrX:68345510 T
T
 G
G
 2 a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0105
a0001c0001t0006g0106
 2 HG02647.hp1
HG02886.hp2
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.155-46414A>C
c.155-46414A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68345510
chrX:68345771 G
G
 C
C
 12 a0001c0001t0002g0021
a0001c0001t0002g0115
a0001c0001t0002g0133
others(9): Show 
a0001c0001t0002g0021
a0001c0001t0002g0115
a0001c0001t0002g0133
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0021g0150
 12 HG01081.hp2
HG01167.hp1
HG01169.hp1
others(9): Show 
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01891.hp1
HG02055.hp1
HG02145.hp1
HG02257.hp2
HG02559.hp1
HG03471.hp1
NA18906.hp1
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.155-46675C>G
c.155-46675C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68345771
chrX:68345861 C
C
 T
T
 69 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(66): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0030g0155
 69 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(66): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18966.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-46765G>A
c.155-46765G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68345861
chrX:68346801 T
T
 C
C
 6 a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
others(3): Show 
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0021g0150
 6 HG01081.hp2
HG01167.hp1
HG01169.hp1
others(3): Show 
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG02055.hp1
HG03471.hp1
NA18906.hp1
 intron_variant MODIFIER c.155-47705A>G
c.155-47705A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68346801
chrX:68346890 G
G
 A
A
 1 a0001c0001t0001g0097
a0001c0001t0001g0097
 1 NA18970.hp1
NA18970.hp1
 intron_variant MODIFIER c.155-47794C>T
c.155-47794C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68346890
chrX:68347385 CAG
CAG
 C
C
 38 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(35): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0023g0037
 38 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(35): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG01891.hp1
HG02071.hp1
HG02109.hp2
HG02132.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18944.hp1
NA18966.hp1
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.155-48291_155-4829
others(6): Show 
c.155-48291_155-48290delCT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68347385
chrX:68347392 C
C
 T
T
 38 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(35): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0023g0037
 38 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(35): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG01891.hp1
HG02071.hp1
HG02109.hp2
HG02132.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18944.hp1
NA18966.hp1
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.155-48296G>A
c.155-48296G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68347392
chrX:68347491 T
T
 G
G
 1 a0001c0001t0008g0096
a0001c0001t0008g0096
 1 HG02257.hp1
HG02257.hp1
 intron_variant MODIFIER c.155-48395A>C
c.155-48395A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68347491
chrX:68347648 G
G
 T
T
 69 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(66): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0030g0155
 69 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(66): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18966.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-48552C>A
c.155-48552C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68347648
chrX:68347651 T
T
 TA
TA
 3 a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0019g0003
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0019g0003
 3 HG02257.hp1
HG02809.hp2
HG03130.hp1
HG02257.hp1
HG02809.hp2
HG03130.hp1
 intron_variant MODIFIER c.155-48556dupT
c.155-48556dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68347651
chrX:68347662 G
G
 A
A
 1 a0001c0001t0002g0115
a0001c0001t0002g0115
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.155-48566C>T
c.155-48566C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68347662
chrX:68347855 TG
TG
 T
T
 38 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(35): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0023g0037
 38 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(35): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG01891.hp1
HG02071.hp1
HG02109.hp2
HG02132.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18944.hp1
NA18966.hp1
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.155-48760delC
c.155-48760delC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68347855
chrX:68347857 C
C
 T
T
 38 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(35): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0023g0037
 38 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(35): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG01891.hp1
HG02071.hp1
HG02109.hp2
HG02132.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18944.hp1
NA18966.hp1
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.155-48761G>A
c.155-48761G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68347857
chrX:68348270 A
A
 T
T
 1 a0001c0001t0001g0060
a0001c0001t0001g0060
 1 HG02015.hp1
HG02015.hp1
 intron_variant MODIFIER c.155-49174T>A
c.155-49174T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68348270
chrX:68348323 GT
GT
 G
G
 69 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(66): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0030g0155
 69 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(66): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18966.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-49228delA
c.155-49228delA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68348323
chrX:68348536 C
C
 CA
CA
 53 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(50): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0030g0155
 53 HG00099.hp2
HG00642.hp1
HG00735.hp2
others(50): Show 
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG01891.hp1
HG01891.hp2
HG02071.hp1
HG02109.hp2
HG02132.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp2
NA18944.hp1
NA18966.hp1
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.155-49441dupT
c.155-49441dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68348536
chrX:68348600 T
T
 C
C
 1 a0001c0001t0003g0035
a0001c0001t0003g0035
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.155-49504A>G
c.155-49504A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68348600
chrX:68348844 T
T
 C
C
 27 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(24): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0004
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0019g0003
a0001c0001t0021g0150
a0001c0001t0030g0155
 27 HG01081.hp2
HG01167.hp1
HG01169.hp1
others(24): Show 
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01891.hp2
HG02055.hp1
HG02109.hp1
HG02257.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03471.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp1
NA18906.hp2
 intron_variant MODIFIER c.155-49748A>G
c.155-49748A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68348844
chrX:68348993 CTG
CTG
 C
C
 1 a0001c0001t0028g0084
a0001c0001t0028g0084
 1 NA19070.hp1
NA19070.hp1
 intron_variant MODIFIER c.155-49899_155-4989
others(6): Show 
c.155-49899_155-49898delCA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68348993
chrX:68349301 G
G
 GA
GA
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.155-50206dupT
c.155-50206dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68349301
chrX:68349557 G
G
 C
C
 1 a0001c0001t0003g0100
a0001c0001t0003g0100
 1 HG01106.hp1
HG01106.hp1
 intron_variant MODIFIER c.155-50461C>G
c.155-50461C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68349557
chrX:68349920 G
G
 T
T
 18 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(15): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0007g0032
a0001c0001t0008g0112
a0001c0001t0030g0155
 18 HG01891.hp2
HG02486.hp1
HG02572.hp1
others(15): Show 
HG01891.hp2
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.155-50824C>A
c.155-50824C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68349920
chrX:68349968 T
T
 C
C
 4 a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0009g0128
others(1): Show 
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
 4 HG01243.hp1
HG01255.hp1
HG02451.hp1
others(1): Show 
HG01243.hp1
HG01255.hp1
HG02451.hp1
HG03540.hp1
 intron_variant MODIFIER c.155-50872A>G
c.155-50872A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68349968
chrX:68350189 T
T
 A
A
 3 a0001c0001t0003g0122
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0003g0122
a0001c0001t0006g0105
a0001c0001t0006g0106
 3 HG02647.hp1
HG02886.hp2
NA19043.hp1
HG02647.hp1
HG02886.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-51093A>T
c.155-51093A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68350189
chrX:68350427 CCTCCCTC
others(1): Show 
CCTCCCTCT
 C
C
 1 a0001c0001t0001g0082
a0001c0001t0001g0082
 1 HG03710.hp1
HG03710.hp1
 intron_variant MODIFIER c.155-51339_155-5133
others(12): Show 
c.155-51339_155-51332delAGAGGGAG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68350427
chrX:68350454 CCCTT
CCCTT
 C
C
 3 a0001c0001t0003g0122
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0003g0122
a0001c0001t0006g0105
a0001c0001t0006g0106
 3 HG02647.hp1
HG02886.hp2
NA19043.hp1
HG02647.hp1
HG02886.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-51362_155-5135
others(8): Show 
c.155-51362_155-51359delAAGG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68350454
chrX:68350458 T
T
 TCCTTCCT
others(5): Show 
TCCTTCCTTCCTC
 7 a0001c0001t0002g0115
a0001c0001t0004g0026
a0001c0001t0004g0030
others(4): Show 
a0001c0001t0002g0115
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0021g0150
 7 HG01081.hp2
HG01167.hp1
HG01169.hp1
others(4): Show 
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG02055.hp1
HG02145.hp1
HG03471.hp1
NA18906.hp1
 intron_variant MODIFIER c.155-51363_155-5136
others(16): Show 
c.155-51363_155-51362insGAGGAAGGAAGG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68350458
chrX:68350466 T
T
 C
C
 28 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(25): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0023g0037
 28 HG00642.hp1
HG00735.hp2
HG00738.hp1
others(25): Show 
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG02071.hp1
HG02132.hp1
HG02258.hp1
HG02451.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp2
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02818.hp1
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18944.hp1
NA18966.hp1
 intron_variant MODIFIER c.155-51370A>G
c.155-51370A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68350466
chrX:68350470 T
T
 C
C
 28 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(25): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0023g0037
 28 HG00642.hp1
HG00735.hp2
HG00738.hp1
others(25): Show 
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG02071.hp1
HG02132.hp1
HG02258.hp1
HG02451.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp2
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02818.hp1
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18944.hp1
NA18966.hp1
 intron_variant MODIFIER c.155-51374A>G
c.155-51374A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68350470
chrX:68350470 TCCTC
TCCTC
 T
T
 16 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(13): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0008g0112
a0001c0001t0030g0155
 16 HG01891.hp2
HG02486.hp1
HG02572.hp1
others(13): Show 
HG01891.hp2
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.155-51378_155-5137
others(8): Show 
c.155-51378_155-51375delGAGG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68350470
chrX:68350478 C
C
 T
T
 28 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(25): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0023g0037
 28 HG00642.hp1
HG00735.hp2
HG00738.hp1
others(25): Show 
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG02071.hp1
HG02132.hp1
HG02258.hp1
HG02451.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp2
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02818.hp1
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18944.hp1
NA18966.hp1
 intron_variant MODIFIER c.155-51382G>A
c.155-51382G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68350478
chrX:68350484 C
C
 CTTCCTCC
others(17): Show 
CTTCCTCCTTTCCTCCTTTCCTCCT
 1 a0001c0001t0020g0099
a0001c0001t0020g0099
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.155-51389_155-5138
others(28): Show 
c.155-51389_155-51388insAGGAGGAAAGGAGGAAAGGAGGAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68350484
chrX:68350484 C
C
 CTTCCTCC
others(25): Show 
CTTCCTCCTTTCCTCCTTTCCTCCTTTCCTCCT
 27 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(24): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0022g0103
a0001c0001t0023g0037
 27 HG00642.hp1
HG00735.hp2
HG01081.hp1
others(24): Show 
HG00642.hp1
HG00735.hp2
HG01081.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG02071.hp1
HG02132.hp1
HG02258.hp1
HG02451.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp2
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02818.hp1
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18944.hp1
NA18966.hp1
 intron_variant MODIFIER c.155-51389_155-5138
others(36): Show 
c.155-51389_155-51388insAGGAGGAAAGGAGGAAAGGAGGAAAG
GAGGAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68350484
chrX:68350492 C
C
 T
T
 28 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(25): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0023g0037
 28 HG00642.hp1
HG00735.hp2
HG00738.hp1
others(25): Show 
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG02071.hp1
HG02132.hp1
HG02258.hp1
HG02451.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp2
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02818.hp1
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18944.hp1
NA18966.hp1
 intron_variant MODIFIER c.155-51396G>A
c.155-51396G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68350492
chrX:68350510 T
T
 TCCTC
TCCTC
 5 a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
others(2): Show 
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0111
 5 HG02965.hp1
HG02976.hp2
HG03139.hp1
others(2): Show 
HG02965.hp1
HG02976.hp2
HG03139.hp1
HG03225.hp1
NA18906.hp2
 intron_variant MODIFIER c.155-51418_155-5141
others(8): Show 
c.155-51418_155-51415dupGAGG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68350510
chrX:68350549 T
T
 C
C
 1 a0001c0001t0001g0046
a0001c0001t0001g0046
 1 HG01928.hp1
HG01928.hp1
 intron_variant MODIFIER c.155-51453A>G
c.155-51453A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68350549
chrX:68350716 T
T
 TA
TA
 28 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(25): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0023g0037
 28 HG00642.hp1
HG00735.hp2
HG00738.hp1
others(25): Show 
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG02071.hp1
HG02132.hp1
HG02258.hp1
HG02451.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp2
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02818.hp1
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18944.hp1
NA18966.hp1
 intron_variant MODIFIER c.155-51621_155-5162
others(5): Show 
c.155-51621_155-51620insT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68350716
chrX:68350731 A
A
 G
G
 68 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(65): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0030g0155
 68 HG00280.hp1
HG00642.hp1
HG00735.hp2
others(65): Show 
HG00280.hp1
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18966.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-51635T>C
c.155-51635T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68350731
chrX:68350970 C
C
 A
A
 18 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(15): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0007g0032
a0001c0001t0008g0112
a0001c0001t0030g0155
 18 HG01891.hp2
HG02486.hp1
HG02572.hp1
others(15): Show 
HG01891.hp2
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.155-51874G>T
c.155-51874G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68350970
chrX:68351006 G
G
 A
A
 1 a0001c0001t0005g0152
a0001c0001t0005g0152
 1 HG02630.hp2
HG02630.hp2
 intron_variant MODIFIER c.155-51910C>T
c.155-51910C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68351006
chrX:68351118 G
G
 A
A
 28 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(25): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0023g0037
 28 HG00642.hp1
HG00735.hp2
HG00738.hp1
others(25): Show 
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG02071.hp1
HG02132.hp1
HG02258.hp1
HG02451.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp2
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02818.hp1
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18944.hp1
NA18966.hp1
 intron_variant MODIFIER c.155-52022C>T
c.155-52022C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68351118
chrX:68351178 C
C
 T
T
 1 a0001c0001t0001g0143
a0001c0001t0001g0143
 1 HG03490.hp1
HG03490.hp1
 intron_variant MODIFIER c.155-52082G>A
c.155-52082G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68351178
chrX:68351436 G
G
 GC
GC
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.155-52341dupG
c.155-52341dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68351436
chrX:68351746 G
G
 T
T
 1 a0001c0001t0001g0145
a0001c0001t0001g0145
 1 NA18944.hp1
NA18944.hp1
 intron_variant MODIFIER c.155-52650C>A
c.155-52650C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68351746
chrX:68351757 C
C
 A
A
 5 a0001c0001t0001g0027
a0001c0001t0001g0041
a0001c0001t0001g0053
others(2): Show 
a0001c0001t0001g0027
a0001c0001t0001g0041
a0001c0001t0001g0053
a0001c0001t0001g0092
a0001c0001t0024g0007
 5 NA18960.hp1
NA18974.hp1
NA18994.hp1
others(2): Show 
NA18960.hp1
NA18974.hp1
NA18994.hp1
NA19000.hp1
NA19007.hp1
 intron_variant MODIFIER c.155-52661G>T
c.155-52661G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68351757
chrX:68351870 T
T
 TC
TC
 2 a0001c0001t0001g0077
a0001c0001t0023g0037
a0001c0001t0001g0077
a0001c0001t0023g0037
 2 HG02071.hp1
HG04115.hp1
HG02071.hp1
HG04115.hp1
 intron_variant MODIFIER c.155-52775_155-5277
others(5): Show 
c.155-52775_155-52774insG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68351870
chrX:68351871 T
T
 C
C
 26 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(23): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0020g0099
a0001c0001t0022g0103
 26 HG00642.hp1
HG00735.hp2
HG00738.hp1
others(23): Show 
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG02132.hp1
HG02258.hp1
HG02451.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp2
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02818.hp1
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp1
NA18522.hp1
NA18612.hp1
NA18944.hp1
NA18966.hp1
 intron_variant MODIFIER c.155-52775A>G
c.155-52775A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68351871
chrX:68351873 C
C
 CT
CT
 8 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0062
others(5): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0062
a0001c0001t0001g0153
a0001c0001t0004g0004
a0001c0001t0019g0003
a0001c0001t0024g0007
a0002c0002t0001g0002
 8 HG01358.hp1
HG02109.hp1
HG02698.hp1
others(5): Show 
HG01358.hp1
HG02109.hp1
HG02698.hp1
HG02809.hp2
HG04228.hp1
NA18994.hp1
NA19000.hp1
NA19009.hp1
 intron_variant MODIFIER c.155-52778dupA
c.155-52778dupA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68351873
chrX:68351873 C
C
 CTT
CTT
 1 a0001c0001t0008g0096
a0001c0001t0008g0096
 1 HG02257.hp1
HG02257.hp1
 intron_variant MODIFIER c.155-52779_155-5277
others(6): Show 
c.155-52779_155-52778dupAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68351873
chrX:68351873 C
C
 T
T
 28 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(25): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0023g0037
 28 HG00642.hp1
HG00735.hp2
HG00738.hp1
others(25): Show 
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG02071.hp1
HG02132.hp1
HG02258.hp1
HG02451.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp2
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02818.hp1
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18944.hp1
NA18966.hp1
 intron_variant MODIFIER c.155-52777G>A
c.155-52777G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68351873
chrX:68351873 CT
CT
 C
C
 33 a0001c0001t0001g0092
a0001c0001t0001g0147
a0001c0001t0002g0014
others(30): Show 
a0001c0001t0001g0092
a0001c0001t0001g0147
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0054
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0006g0013
a0001c0001t0006g0120
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0112
a0001c0001t0018g0104
a0001c0001t0021g0150
a0001c0001t0030g0155
 33 HG00280.hp1
HG01081.hp2
HG01169.hp1
others(30): Show 
HG00280.hp1
HG01081.hp2
HG01169.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG02055.hp1
HG02109.hp2
HG02280.hp1
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03471.hp1
HG03579.hp1
NA18906.hp1
NA18906.hp2
NA18960.hp1
NA18986.hp1
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.155-52778delA
c.155-52778delA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68351873
chrX:68351873 CTT
CTT
 C
C
 5 a0001c0001t0002g0115
a0001c0001t0003g0122
a0001c0001t0006g0105
others(2): Show 
a0001c0001t0002g0115
a0001c0001t0003g0122
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0121
 5 HG01167.hp1
HG02145.hp1
HG02647.hp1
others(2): Show 
HG01167.hp1
HG02145.hp1
HG02647.hp1
HG02886.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-52779_155-5277
others(6): Show 
c.155-52779_155-52778delAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68351873
chrX:68351874 T
T
 C
C
 2 a0001c0001t0001g0077
a0001c0001t0023g0037
a0001c0001t0001g0077
a0001c0001t0023g0037
 2 HG02071.hp1
HG04115.hp1
HG02071.hp1
HG04115.hp1
 intron_variant MODIFIER c.155-52778A>G
c.155-52778A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68351874
chrX:68351875 T
T
 C
C
 26 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(23): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0020g0099
a0001c0001t0022g0103
 26 HG00642.hp1
HG00735.hp2
HG00738.hp1
others(23): Show 
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG02132.hp1
HG02258.hp1
HG02451.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp2
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02818.hp1
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp1
NA18522.hp1
NA18612.hp1
NA18944.hp1
NA18966.hp1
 intron_variant MODIFIER c.155-52779A>G
c.155-52779A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68351875
chrX:68352361 G
G
 GA
GA
 33 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0043
others(30): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0043
a0001c0001t0001g0053
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0002g0057
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0007g0032
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0023g0037
 33 HG00642.hp1
HG00735.hp2
HG00738.hp1
others(30): Show 
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG01952.hp1
HG02071.hp1
HG02132.hp1
HG02258.hp1
HG02451.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp2
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02818.hp1
HG02976.hp1
HG03130.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18944.hp1
NA18966.hp1
NA18974.hp1
NA19012.hp1
 intron_variant MODIFIER c.155-53266dupT
c.155-53266dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68352361
chrX:68352361 GA
GA
 G
G
 1 a0001c0001t0001g0146
a0001c0001t0001g0146
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.155-53266delT
c.155-53266delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68352361
chrX:68352507 A
A
 G
G
 1 a0001c0001t0002g0115
a0001c0001t0002g0115
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.155-53411T>C
c.155-53411T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68352507
chrX:68352573 T
T
 TC
TC
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.155-53478dupG
c.155-53478dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68352573
chrX:68353043 T
T
 G
G
 2 a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0094
a0001c0001t0004g0095
 2 HG03209.hp1
HG03516.hp1
HG03209.hp1
HG03516.hp1
 intron_variant MODIFIER c.155-53947A>C
c.155-53947A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68353043
chrX:68353110 C
C
 T
T
 1 a0001c0001t0003g0111
a0001c0001t0003g0111
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.155-54014G>A
c.155-54014G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68353110
chrX:68353252 AC
AC
 A
A
 1 a0001c0001t0001g0015
a0001c0001t0001g0015
 1 NA19004.hp1
NA19004.hp1
 intron_variant MODIFIER c.155-54157delG
c.155-54157delG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68353252
chrX:68353393 A
A
 AC
AC
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.155-54298dupG
c.155-54298dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68353393
chrX:68353406 A
A
 AG
AG
 2 a0001c0001t0004g0034
a0001c0001t0021g0150
a0001c0001t0004g0034
a0001c0001t0021g0150
 2 HG02055.hp1
HG03471.hp1
HG02055.hp1
HG03471.hp1
 intron_variant MODIFIER c.155-54311dupC
c.155-54311dupC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68353406
chrX:68353408 G
G
 GA
GA
 22 a0001c0001t0001g0008
a0001c0001t0001g0016
a0001c0001t0001g0029
others(19): Show 
a0001c0001t0001g0008
a0001c0001t0001g0016
a0001c0001t0001g0029
a0001c0001t0001g0048
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0064
a0001c0001t0001g0077
a0001c0001t0001g0080
a0001c0001t0001g0088
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0122
a0001c0001t0004g0095
a0001c0001t0013g0042
a0001c0001t0024g0007
a0001c0001t0025g0087
 22 HG00735.hp1
HG01192.hp1
HG01256.hp1
others(19): Show 
HG00735.hp1
HG01192.hp1
HG01256.hp1
HG01346.hp1
HG01346.hp2
HG02056.hp1
HG02071.hp1
HG02129.hp1
HG02135.hp1
HG02300.hp1
HG02559.hp2
HG02738.hp1
HG03017.hp1
HG03516.hp1
HG04199.hp1
NA18612.hp1
NA18943.hp1
NA18960.hp1
NA18974.hp1
NA18988.hp1
NA19000.hp1
NA19043.hp1
 intron_variant MODIFIER c.155-54313dupT
c.155-54313dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68353408
chrX:68353408 G
G
 GAA
GAA
 2 a0001c0001t0003g0100
a0001c0001t0006g0105
a0001c0001t0003g0100
a0001c0001t0006g0105
 2 HG01106.hp1
HG02886.hp2
HG01106.hp1
HG02886.hp2
 intron_variant MODIFIER c.155-54314_155-5431
others(6): Show 
c.155-54314_155-54313dupTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68353408
chrX:68353408 G
G
 GAAA
GAAA
 2 a0001c0001t0001g0062
a0001c0001t0006g0106
a0001c0001t0001g0062
a0001c0001t0006g0106
 2 HG02647.hp1
NA19009.hp1
HG02647.hp1
NA19009.hp1
 intron_variant MODIFIER c.155-54315_155-5431
others(7): Show 
c.155-54315_155-54313dupTTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68353408
chrX:68353408 GA
GA
 G
G
 4 a0001c0001t0001g0015
a0001c0001t0002g0014
a0001c0001t0002g0108
others(1): Show 
a0001c0001t0001g0015
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
 4 HG02922.hp1
HG03098.hp1
HG03516.hp2
others(1): Show 
HG02922.hp1
HG03098.hp1
HG03516.hp2
NA19004.hp1
 intron_variant MODIFIER c.155-54313delT
c.155-54313delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68353408
chrX:68353409 A
A
 G
G
 22 a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
others(19): Show 
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0004
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0019g0003
a0001c0001t0030g0155
 22 HG01081.hp2
HG01167.hp1
HG01169.hp1
others(19): Show 
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01891.hp2
HG02109.hp1
HG02257.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02965.hp1
HG02976.hp2
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03540.hp2
HG03579.hp1
NA18906.hp1
NA18906.hp2
 intron_variant MODIFIER c.155-54313T>C
c.155-54313T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68353409
chrX:68353410 A
A
 G
G
 3 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
 3 HG02922.hp1
HG03098.hp1
HG03516.hp2
HG02922.hp1
HG03098.hp1
HG03516.hp2
 intron_variant MODIFIER c.155-54314T>C
c.155-54314T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68353410
chrX:68353415 A
A
 G
G
 1 a0001c0001t0002g0115
a0001c0001t0002g0115
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.155-54319T>C
c.155-54319T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68353415
chrX:68353425 A
A
 AG
AG
 1 a0001c0003t0010g0089
a0001c0003t0010g0089
 1 HG03688.hp1
HG03688.hp1
 intron_variant MODIFIER c.155-54330_155-5432
others(5): Show 
c.155-54330_155-54329insC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68353425
chrX:68353655 G
G
 A
A
 25 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(22): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0032
a0001c0001t0008g0112
a0001c0001t0021g0150
a0001c0001t0030g0155
 25 HG01081.hp2
HG01167.hp1
HG01169.hp1
others(22): Show 
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01891.hp2
HG02055.hp1
HG02145.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03471.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp1
NA18906.hp2
 intron_variant MODIFIER c.155-54559C>T
c.155-54559C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68353655
chrX:68353743 C
C
 G
G
 1 a0001c0001t0018g0104
a0001c0001t0018g0104
 1 HG00280.hp1
HG00280.hp1
 intron_variant MODIFIER c.155-54647G>C
c.155-54647G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68353743
chrX:68354189 G
G
 A
A
 67 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(64): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0030g0155
 67 HG00280.hp1
HG00642.hp1
HG00735.hp2
others(64): Show 
HG00280.hp1
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18966.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-55093C>T
c.155-55093C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68354189
chrX:68354452 C
C
 CA
CA
 36 a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
others(33): Show 
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0048
a0001c0001t0001g0058
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0077
a0001c0001t0001g0080
a0001c0001t0001g0088
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0054
a0001c0001t0002g0108
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0095
a0001c0001t0005g0137
a0001c0001t0006g0013
a0001c0001t0006g0106
a0001c0001t0007g0022
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0013g0042
a0001c0001t0024g0007
a0001c0001t0028g0084
a0003c0004t0014g0102
 36 HG00642.hp1
HG00735.hp2
HG01106.hp1
others(33): Show 
HG00642.hp1
HG00735.hp2
HG01106.hp1
HG01192.hp1
HG01346.hp2
HG02027.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02129.hp1
HG02280.hp2
HG02451.hp2
HG02630.hp1
HG02647.hp1
HG02723.hp1
HG02738.hp1
HG02818.hp1
HG02886.hp1
HG02922.hp2
HG03017.hp1
HG03098.hp1
HG03130.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG04199.hp1
NA18906.hp1
NA18986.hp1
NA18988.hp1
NA18994.hp1
NA19000.hp1
NA19030.hp1
NA19030.hp2
NA19068.hp1
NA19070.hp1
 intron_variant MODIFIER c.155-55357dupT
c.155-55357dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68354452
chrX:68354452 C
C
 CAA
CAA
 1 a0001c0001t0002g0133
a0001c0001t0002g0133
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.155-55358_155-5535
others(6): Show 
c.155-55358_155-55357dupTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68354452
chrX:68354479 C
C
 A
A
 3 a0001c0001t0004g0004
a0001c0001t0008g0096
a0001c0001t0019g0003
a0001c0001t0004g0004
a0001c0001t0008g0096
a0001c0001t0019g0003
 3 HG02109.hp1
HG02257.hp1
HG02809.hp2
HG02109.hp1
HG02257.hp1
HG02809.hp2
 intron_variant MODIFIER c.155-55383G>T
c.155-55383G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68354479
chrX:68354594 C
C
 T
T
 23 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(20): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0032
a0001c0001t0008g0112
a0001c0001t0021g0150
a0001c0001t0030g0155
 23 HG01081.hp2
HG01167.hp1
HG01169.hp1
others(20): Show 
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01891.hp2
HG02055.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03471.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp1
NA18906.hp2
 intron_variant MODIFIER c.155-55498G>A
c.155-55498G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68354594
chrX:68354754 C
C
 CA
CA
 16 a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0053
others(13): Show 
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0053
a0001c0001t0001g0059
a0001c0001t0001g0090
a0001c0001t0002g0006
a0001c0001t0002g0021
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0133
a0001c0001t0003g0122
a0001c0001t0006g0105
a0001c0001t0007g0022
a0001c0001t0007g0033
a0001c0001t0024g0007
a0001c0001t0025g0087
 16 HG01261.hp1
HG01433.hp1
HG01891.hp1
others(13): Show 
HG01261.hp1
HG01433.hp1
HG01891.hp1
HG02074.hp1
HG02083.hp1
HG02145.hp1
HG02257.hp2
HG02886.hp2
NA18943.hp1
NA18948.hp1
NA18974.hp1
NA18994.hp1
NA19000.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-55659dupT
c.155-55659dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68354754
chrX:68354754 C
C
 CAA
CAA
 27 a0001c0001t0002g0014
a0001c0001t0002g0114
a0001c0001t0002g0116
others(24): Show 
a0001c0001t0002g0014
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0004
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0019g0003
a0001c0001t0021g0150
a0001c0001t0030g0155
 27 HG01081.hp2
HG01167.hp1
HG01169.hp1
others(24): Show 
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01891.hp2
HG02055.hp1
HG02109.hp1
HG02257.hp1
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02647.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03471.hp1
HG03540.hp2
HG03579.hp1
NA18906.hp1
NA18906.hp2
 intron_variant MODIFIER c.155-55660_155-5565
others(6): Show 
c.155-55660_155-55659dupTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68354754
chrX:68354754 C
C
 CAAA
CAAA
 1 a0001c0001t0002g0108
a0001c0001t0002g0108
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.155-55661_155-5565
others(7): Show 
c.155-55661_155-55659dupTTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68354754
chrX:68354766 A
A
 C
C
 1 a0001c0001t0002g0144
a0001c0001t0002g0144
 1 HG02132.hp1
HG02132.hp1
 intron_variant MODIFIER c.155-55670T>G
c.155-55670T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68354766
chrX:68355465 C
C
 T
T
 23 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(20): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0032
a0001c0001t0008g0112
a0001c0001t0021g0150
a0001c0001t0030g0155
 23 HG01081.hp2
HG01167.hp1
HG01169.hp1
others(20): Show 
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01891.hp2
HG02055.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03471.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp1
NA18906.hp2
 intron_variant MODIFIER c.155-56369G>A
c.155-56369G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68355465
chrX:68355687 T
T
 C
C
 3 a0001c0001t0002g0116
a0001c0001t0005g0110
a0001c0001t0008g0112
a0001c0001t0002g0116
a0001c0001t0005g0110
a0001c0001t0008g0112
 3 HG02818.hp2
HG03540.hp2
HG03579.hp1
HG02818.hp2
HG03540.hp2
HG03579.hp1
 intron_variant MODIFIER c.155-56591A>G
c.155-56591A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68355687
chrX:68355803 G
G
 A
A
 3 a0001c0001t0004g0004
a0001c0001t0008g0096
a0001c0001t0019g0003
a0001c0001t0004g0004
a0001c0001t0008g0096
a0001c0001t0019g0003
 3 HG02109.hp1
HG02257.hp1
HG02809.hp2
HG02109.hp1
HG02257.hp1
HG02809.hp2
 intron_variant MODIFIER c.155-56707C>T
c.155-56707C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68355803
chrX:68355861 AC
AC
 A
A
 1 a0001c0001t0001g0029
a0001c0001t0001g0029
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.155-56766delG
c.155-56766delG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68355861
chrX:68355975 G
G
 C
C
 1 a0001c0001t0003g0065
a0001c0001t0003g0065
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.155-56879C>G
c.155-56879C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68355975
chrX:68356048 C
C
 CA
CA
 12 a0001c0001t0001g0027
a0001c0001t0001g0048
a0001c0001t0001g0070
others(9): Show 
a0001c0001t0001g0027
a0001c0001t0001g0048
a0001c0001t0001g0070
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0002g0014
a0001c0001t0002g0135
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0118
a0001c0001t0007g0023
a0001c0001t0028g0084
 12 HG02071.hp1
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02071.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp2
HG02738.hp1
HG03098.hp1
HG04199.hp1
NA18906.hp2
NA18994.hp1
NA19056.hp1
NA19070.hp1
NA20752.hp1
 intron_variant MODIFIER c.155-56953dupT
c.155-56953dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68356048
chrX:68356128 C
C
 G
G
 1 a0001c0001t0005g0152
a0001c0001t0005g0152
 1 HG02630.hp2
HG02630.hp2
 intron_variant MODIFIER c.155-57032G>C
c.155-57032G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68356128
chrX:68356145 CTGTAGGG
others(1): Show 
CTGTAGGGG
 C
C
 1 a0001c0001t0003g0076
a0001c0001t0003g0076
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.155-57057_155-5705
others(12): Show 
c.155-57057_155-57050delCCCCTACA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68356145
chrX:68356244 A
A
 C
C
 3 a0001c0001t0004g0004
a0001c0001t0008g0096
a0001c0001t0019g0003
a0001c0001t0004g0004
a0001c0001t0008g0096
a0001c0001t0019g0003
 3 HG02109.hp1
HG02257.hp1
HG02809.hp2
HG02109.hp1
HG02257.hp1
HG02809.hp2
 intron_variant MODIFIER c.155-57148T>G
c.155-57148T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68356244
chrX:68356269 AT
AT
 A
A
 1 a0001c0001t0001g0029
a0001c0001t0001g0029
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.155-57174delA
c.155-57174delA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68356269
chrX:68356358 TC
TC
 T
T
 1 a0001c0001t0001g0029
a0001c0001t0001g0029
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.155-57263delG
c.155-57263delG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68356358
chrX:68356418 A
A
 AT
AT
 54 a0001c0001t0001g0008
a0001c0001t0001g0071
a0001c0001t0001g0077
others(51): Show 
a0001c0001t0001g0008
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0065
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0120
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0030g0155
 54 HG00642.hp1
HG00735.hp2
HG00738.hp1
others(51): Show 
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01169.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG01891.hp2
HG02055.hp1
HG02071.hp1
HG02109.hp1
HG02132.hp1
HG02257.hp1
HG02258.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18966.hp1
NA19043.hp1
 intron_variant MODIFIER c.155-57323dupA
c.155-57323dupA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68356418
chrX:68356418 A
A
 ATT
ATT
 2 a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0105
a0001c0001t0006g0106
 2 HG02647.hp1
HG02886.hp2
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.155-57324_155-5732
others(6): Show 
c.155-57324_155-57323dupAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68356418
chrX:68356418 AT
AT
 A
A
 2 a0001c0001t0001g0029
a0001c0001t0015g0148
a0001c0001t0001g0029
a0001c0001t0015g0148
 2 HG01943.hp1
NA18988.hp1
HG01943.hp1
NA18988.hp1
 intron_variant MODIFIER c.155-57323delA
c.155-57323delA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68356418
chrX:68356601 TG
TG
 T
T
 1 a0001c0001t0001g0029
a0001c0001t0001g0029
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.155-57506delC
c.155-57506delC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68356601
chrX:68356734 A
A
 AT
AT
 1 a0001c0001t0001g0029
a0001c0001t0001g0029
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.155-57639_155-5763
others(5): Show 
c.155-57639_155-57638insA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68356734
chrX:68356810 AT
AT
 A
A
 1 a0001c0001t0001g0029
a0001c0001t0001g0029
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.155-57715delA
c.155-57715delA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68356810
chrX:68356811 T
T
 A
A
 9 a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0133
others(6): Show 
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0133
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0018g0104
 9 HG00280.hp1
HG01891.hp1
HG02109.hp2
others(6): Show 
HG00280.hp1
HG01891.hp1
HG02109.hp2
HG02257.hp2
HG02280.hp1
HG02559.hp1
HG02809.hp1
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.155-57715A>T
c.155-57715A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68356811
chrX:68356924 G
G
 A
A
 1 a0001c0001t0013g0042
a0001c0001t0013g0042
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.155-57828C>T
c.155-57828C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68356924
chrX:68357066 T
T
 C
C
 16 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(13): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0008g0112
a0001c0001t0030g0155
 16 HG01891.hp2
HG02486.hp1
HG02572.hp1
others(13): Show 
HG01891.hp2
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.155-57970A>G
c.155-57970A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68357066
chrX:68357276 A
A
 G
G
 35 a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
others(32): Show 
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0112
a0001c0001t0018g0104
a0001c0001t0021g0150
a0001c0001t0030g0155
 35 HG00280.hp1
HG01081.hp2
HG01167.hp1
others(32): Show 
HG00280.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02109.hp2
HG02257.hp2
HG02280.hp1
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02647.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03471.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp1
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-58180T>C
c.155-58180T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68357276
chrX:68357338 G
G
 C
C
 4 a0001c0001t0001g0016
a0001c0001t0001g0059
a0001c0001t0001g0074
others(1): Show 
a0001c0001t0001g0016
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0132
 4 HG01069.hp1
HG01256.hp1
HG01258.hp1
others(1): Show 
HG01069.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
 intron_variant MODIFIER c.155-58242C>G
c.155-58242C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68357338
chrX:68357396 T
T
 TC
TC
 1 a0001c0001t0001g0147
a0001c0001t0001g0147
 1 HG01934.hp1
HG01934.hp1
 intron_variant MODIFIER c.155-58301dupG
c.155-58301dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68357396
chrX:68357400 C
C
 CA
CA
 3 a0001c0001t0004g0004
a0001c0001t0008g0096
a0001c0001t0019g0003
a0001c0001t0004g0004
a0001c0001t0008g0096
a0001c0001t0019g0003
 3 HG02109.hp1
HG02257.hp1
HG02809.hp2
HG02109.hp1
HG02257.hp1
HG02809.hp2
 intron_variant MODIFIER c.155-58305_155-5830
others(5): Show 
c.155-58305_155-58304insT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68357400
chrX:68357515 TC
TC
 T
T
 2 a0001c0001t0001g0068
a0001c0001t0001g0073
a0001c0001t0001g0068
a0001c0001t0001g0073
 2 NA19066.hp1
NA19068.hp1
NA19066.hp1
NA19068.hp1
 intron_variant MODIFIER c.155-58420delG
c.155-58420delG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68357515
chrX:68357587 A
A
 C
C
 3 a0001c0001t0004g0004
a0001c0001t0008g0096
a0001c0001t0019g0003
a0001c0001t0004g0004
a0001c0001t0008g0096
a0001c0001t0019g0003
 3 HG02109.hp1
HG02257.hp1
HG02809.hp2
HG02109.hp1
HG02257.hp1
HG02809.hp2
 intron_variant MODIFIER c.155-58491T>G
c.155-58491T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68357587
chrX:68357701 T
T
 C
C
 67 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(64): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0030g0155
 67 HG00280.hp1
HG00642.hp1
HG00735.hp2
others(64): Show 
HG00280.hp1
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18966.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-58605A>G
c.155-58605A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68357701
chrX:68357778 T
T
 C
C
 1 a0001c0001t0002g0115
a0001c0001t0002g0115
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.155-58682A>G
c.155-58682A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68357778
chrX:68358128 T
T
 TA
TA
 6 a0001c0001t0001g0071
a0001c0001t0001g0088
a0001c0001t0002g0125
others(3): Show 
a0001c0001t0001g0071
a0001c0001t0001g0088
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
 6 HG00642.hp1
HG01243.hp1
HG01255.hp1
others(3): Show 
HG00642.hp1
HG01243.hp1
HG01255.hp1
HG02056.hp1
HG02451.hp1
HG03540.hp1
 intron_variant MODIFIER c.155-59033dupT
c.155-59033dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68358128
chrX:68358735 C
C
 T
T
 2 a0001c0001t0001g0079
a0001c0001t0001g0090
a0001c0001t0001g0079
a0001c0001t0001g0090
 2 HG01433.hp1
NA20752.hp1
HG01433.hp1
NA20752.hp1
 intron_variant MODIFIER c.155-59639G>A
c.155-59639G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68358735
chrX:68358851 G
G
 A
A
 1 a0001c0001t0004g0004
a0001c0001t0004g0004
 1 HG02109.hp1
HG02109.hp1
 intron_variant MODIFIER c.155-59755C>T
c.155-59755C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68358851
chrX:68359023 C
C
 T
T
 1 a0001c0001t0001g0086
a0001c0001t0001g0086
 1 NA19060.hp1
NA19060.hp1
 intron_variant MODIFIER c.155-59927G>A
c.155-59927G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68359023
chrX:68359579 G
G
 A
A
 2 a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0094
a0001c0001t0004g0095
 2 HG03209.hp1
HG03516.hp1
HG03209.hp1
HG03516.hp1
 intron_variant MODIFIER c.155-60483C>T
c.155-60483C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68359579
chrX:68359594 A
A
 C
C
 2 a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0105
a0001c0001t0006g0106
 2 HG02647.hp1
HG02886.hp2
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.155-60498T>G
c.155-60498T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68359594
chrX:68359810 C
C
 T
T
 17 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0077
others(14): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0139
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0016g0119
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0023g0037
 17 HG00738.hp1
HG01081.hp1
HG01346.hp1
others(14): Show 
HG00738.hp1
HG01081.hp1
HG01346.hp1
HG02071.hp1
HG02132.hp1
HG02258.hp1
HG02559.hp2
HG02602.hp1
HG02683.hp1
HG02717.hp1
HG02818.hp1
HG02976.hp1
HG03490.hp1
HG04115.hp1
NA18612.hp1
NA18944.hp1
NA18966.hp1
 intron_variant MODIFIER c.155-60714G>A
c.155-60714G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68359810
chrX:68359855 C
C
 CA
CA
 36 a0001c0001t0001g0016
a0001c0001t0001g0027
a0001c0001t0001g0044
others(33): Show 
a0001c0001t0001g0016
a0001c0001t0001g0027
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0048
a0001c0001t0001g0052
a0001c0001t0001g0071
a0001c0001t0001g0088
a0001c0001t0001g0093
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0057
a0001c0001t0002g0115
a0001c0001t0002g0123
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0133
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0063
a0001c0001t0003g0113
a0001c0001t0003g0122
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0117
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0009g0128
a0001c0001t0013g0042
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0024g0007
a0002c0002t0003g0001
 36 HG00280.hp1
HG00642.hp1
HG00735.hp1
others(33): Show 
HG00280.hp1
HG00642.hp1
HG00735.hp1
HG00735.hp2
HG01255.hp1
HG01256.hp1
HG01346.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG02027.hp1
HG02056.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02145.hp1
HG02280.hp1
HG02451.hp1
HG02559.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG03098.hp1
HG03209.hp1
HG03540.hp1
HG03942.hp1
HG04199.hp1
NA18522.hp1
NA18994.hp1
NA19000.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19085.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.155-60760dupT
c.155-60760dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68359855
chrX:68359855 C
C
 CAA
CAA
 15 a0001c0001t0002g0021
a0001c0001t0004g0026
a0001c0001t0004g0030
others(12): Show 
a0001c0001t0002g0021
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0095
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0009g0129
a0001c0001t0019g0003
a0001c0001t0021g0150
 15 HG01081.hp2
HG01167.hp1
HG01169.hp1
others(12): Show 
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01243.hp1
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02630.hp2
HG02647.hp1
HG02809.hp2
HG02886.hp2
HG03130.hp1
HG03471.hp1
HG03516.hp1
NA18906.hp1
 intron_variant MODIFIER c.155-60761_155-6076
others(6): Show 
c.155-60761_155-60760dupTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68359855
chrX:68359855 CA
CA
 C
C
 19 a0001c0001t0001g0008
a0001c0001t0001g0029
a0001c0001t0001g0038
others(16): Show 
a0001c0001t0001g0008
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0060
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0139
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0023g0037
a0004c0005t0012g0024
 19 HG00738.hp1
HG01081.hp1
HG01169.hp2
others(16): Show 
HG00738.hp1
HG01081.hp1
HG01169.hp2
HG01346.hp1
HG02015.hp1
HG02132.hp1
HG02258.hp1
HG02559.hp2
HG02602.hp1
HG02717.hp1
HG02818.hp1
HG02976.hp1
HG03490.hp1
HG03540.hp2
HG04115.hp1
NA18612.hp1
NA18944.hp1
NA18966.hp1
NA18988.hp1
 intron_variant MODIFIER c.155-60760delT
c.155-60760delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68359855
chrX:68359857 A
A
 C
C
 2 a0001c0001t0001g0077
a0001c0001t0016g0119
a0001c0001t0001g0077
a0001c0001t0016g0119
 2 HG02071.hp1
HG02683.hp1
HG02071.hp1
HG02683.hp1
 intron_variant MODIFIER c.155-60761T>G
c.155-60761T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68359857
chrX:68359858 A
A
 C
C
 15 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0140
others(12): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0002g0124
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0139
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0023g0037
 15 HG00738.hp1
HG01081.hp1
HG01346.hp1
others(12): Show 
HG00738.hp1
HG01081.hp1
HG01346.hp1
HG02132.hp1
HG02258.hp1
HG02559.hp2
HG02602.hp1
HG02717.hp1
HG02818.hp1
HG02976.hp1
HG03490.hp1
HG04115.hp1
NA18612.hp1
NA18944.hp1
NA18966.hp1
 intron_variant MODIFIER c.155-60762T>G
c.155-60762T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68359858
chrX:68359906 G
G
 A
A
 1 a0001c0001t0001g0008
a0001c0001t0001g0008
 1 HG01346.hp1
HG01346.hp1
 intron_variant MODIFIER c.155-60810C>T
c.155-60810C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68359906
chrX:68359930 C
C
 G
G
 1 a0001c0001t0002g0115
a0001c0001t0002g0115
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.155-60834G>C
c.155-60834G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68359930
chrX:68360090 G
G
 C
C
 7 a0001c0001t0002g0115
a0001c0001t0004g0026
a0001c0001t0004g0030
others(4): Show 
a0001c0001t0002g0115
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0021g0150
 7 HG01081.hp2
HG01167.hp1
HG01169.hp1
others(4): Show 
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG02055.hp1
HG02145.hp1
HG03471.hp1
NA18906.hp1
 intron_variant MODIFIER c.155-60994C>G
c.155-60994C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68360090
chrX:68361015 C
C
 T
T
 1 a0001c0001t0007g0032
a0001c0001t0007g0032
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.155-61919G>A
c.155-61919G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68361015
chrX:68361241 G
G
 A
A
 1 a0001c0001t0003g0113
a0001c0001t0003g0113
 1 HG02723.hp2
HG02723.hp2
 intron_variant MODIFIER c.155-62145C>T
c.155-62145C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68361241
chrX:68361485 A
A
 C
C
 1 a0001c0001t0002g0115
a0001c0001t0002g0115
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.155-62389T>G
c.155-62389T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68361485
chrX:68361510 A
A
 T
T
 2 a0001c0001t0001g0098
a0001c0001t0028g0084
a0001c0001t0001g0098
a0001c0001t0028g0084
 2 NA18955.hp1
NA19070.hp1
NA18955.hp1
NA19070.hp1
 intron_variant MODIFIER c.155-62414T>A
c.155-62414T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68361510
chrX:68361863 C
C
 T
T
 2 a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0004g0117
a0001c0001t0005g0107
 2 HG01891.hp2
HG02486.hp1
HG01891.hp2
HG02486.hp1
 intron_variant MODIFIER c.155-62767G>A
c.155-62767G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68361863
chrX:68362437 T
T
 A
A
 1 a0001c0001t0022g0103
a0001c0001t0022g0103
 1 HG01081.hp1
HG01081.hp1
 intron_variant MODIFIER c.155-63341A>T
c.155-63341A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68362437
chrX:68362546 C
C
 T
T
 1 a0001c0001t0003g0139
a0001c0001t0003g0139
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.155-63450G>A
c.155-63450G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68362546
chrX:68362580 C
C
 T
T
 1 a0001c0001t0015g0148
a0001c0001t0015g0148
 1 HG01943.hp1
HG01943.hp1
 intron_variant MODIFIER c.155-63484G>A
c.155-63484G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68362580
chrX:68362704 T
T
 G
G
 2 a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0105
a0001c0001t0006g0106
 2 HG02647.hp1
HG02886.hp2
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.155-63608A>C
c.155-63608A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68362704
chrX:68362768 T
T
 C
C
 30 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(27): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0008g0096
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0023g0037
 30 HG00642.hp1
HG00735.hp2
HG00738.hp1
others(27): Show 
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG02071.hp1
HG02132.hp1
HG02257.hp1
HG02258.hp1
HG02451.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp2
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18944.hp1
NA18966.hp1
 intron_variant MODIFIER c.155-63672A>G
c.155-63672A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68362768
chrX:68362861 T
T
 C
C
 1 a0001c0001t0003g0139
a0001c0001t0003g0139
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.155-63765A>G
c.155-63765A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68362861
chrX:68363308 C
C
 CT
CT
 1 a0001c0001t0003g0035
a0001c0001t0003g0035
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.155-64213dupA
c.155-64213dupA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68363308
chrX:68363624 A
A
 T
T
 3 a0001c0001t0004g0026
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0004g0026
a0001c0001t0006g0120
a0001c0001t0006g0121
 3 HG01167.hp1
HG01169.hp1
NA18906.hp1
HG01167.hp1
HG01169.hp1
NA18906.hp1
 intron_variant MODIFIER c.155-64528T>A
c.155-64528T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68363624
chrX:68363961 C
C
 A
A
 66 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(63): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0030g0155
 66 HG00280.hp1
HG00642.hp1
HG00735.hp2
others(63): Show 
HG00280.hp1
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18966.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-64865G>T
c.155-64865G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68363961
chrX:68364276 T
T
 C
C
 1 a0001c0001t0002g0006
a0001c0001t0002g0006
 1 HG02074.hp1
HG02074.hp1
 intron_variant MODIFIER c.155-65180A>G
c.155-65180A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68364276
chrX:68364574 T
T
 C
C
 1 a0001c0001t0003g0100
a0001c0001t0003g0100
 1 HG01106.hp1
HG01106.hp1
 intron_variant MODIFIER c.155-65478A>G
c.155-65478A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68364574
chrX:68365290 GA
GA
 G
G
 3 a0001c0001t0001g0025
a0001c0001t0002g0114
a0001c0001t0011g0061
a0001c0001t0001g0025
a0001c0001t0002g0114
a0001c0001t0011g0061
 3 HG01515.hp1
HG02922.hp1
NA18982.hp1
HG01515.hp1
HG02922.hp1
NA18982.hp1
 intron_variant MODIFIER c.155-66195delT
c.155-66195delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68365290
chrX:68365363 A
A
 G
G
 67 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(64): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0030g0155
 67 HG00280.hp1
HG00642.hp1
HG00735.hp2
others(64): Show 
HG00280.hp1
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18966.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.155-66267T>C
c.155-66267T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68365363
chrX:68365504 T
T
 C
C
 28 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(25): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0023g0037
 28 HG00642.hp1
HG00735.hp2
HG00738.hp1
others(25): Show 
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG02071.hp1
HG02132.hp1
HG02258.hp1
HG02451.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp2
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02818.hp1
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18944.hp1
NA18966.hp1
 intron_variant MODIFIER c.155-66408A>G
c.155-66408A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68365504
chrX:68365640 A
A
 G
G
 2 a0001c0001t0002g0124
a0001c0001t0002g0144
a0001c0001t0002g0124
a0001c0001t0002g0144
 2 HG02132.hp1
NA18612.hp1
HG02132.hp1
NA18612.hp1
 intron_variant MODIFIER c.155-66544T>C
c.155-66544T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68365640
chrX:68365818 C
C
 CT
CT
 32 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(29): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0002g0115
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0063
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0008g0096
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0022g0103
 32 HG00642.hp1
HG00735.hp2
HG00738.hp1
others(29): Show 
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG02071.hp1
HG02109.hp1
HG02132.hp1
HG02145.hp1
HG02257.hp1
HG02258.hp1
HG02451.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp2
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG04199.hp1
NA18522.hp1
NA18612.hp1
NA18944.hp1
NA18966.hp1
 intron_variant MODIFIER c.155-66723dupA
c.155-66723dupA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68365818
chrX:68365818 CT
CT
 C
C
 1 a0001c0001t0001g0149
a0001c0001t0001g0149
 1 NA20805.hp1
NA20805.hp1
 intron_variant MODIFIER c.155-66723delA
c.155-66723delA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68365818
chrX:68365953 C
C
 A
A
 4 a0001c0001t0002g0115
a0001c0001t0004g0004
a0001c0001t0008g0096
others(1): Show 
a0001c0001t0002g0115
a0001c0001t0004g0004
a0001c0001t0008g0096
a0001c0001t0019g0003
 4 HG02109.hp1
HG02145.hp1
HG02257.hp1
others(1): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp1
HG02809.hp2
 intron_variant MODIFIER c.155-66857G>T
c.155-66857G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68365953
chrX:68365979 C
C
 CA
CA
 1 a0001c0001t0001g0044
a0001c0001t0001g0044
 1 HG03942.hp1
HG03942.hp1
 intron_variant MODIFIER c.155-66884dupT
c.155-66884dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68365979
chrX:68366471 G
G
 A
A
 3 a0001c0001t0004g0004
a0001c0001t0008g0096
a0001c0001t0019g0003
a0001c0001t0004g0004
a0001c0001t0008g0096
a0001c0001t0019g0003
 3 HG02109.hp1
HG02257.hp1
HG02809.hp2
HG02109.hp1
HG02257.hp1
HG02809.hp2
 intron_variant MODIFIER c.154+66396C>T
c.154+66396C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68366471
chrX:68366703 C
C
 T
T
 2 a0001c0001t0001g0068
a0001c0001t0001g0073
a0001c0001t0001g0068
a0001c0001t0001g0073
 2 NA19066.hp1
NA19068.hp1
NA19066.hp1
NA19068.hp1
 intron_variant MODIFIER c.154+66164G>A
c.154+66164G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68366703
chrX:68367079 G
G
 A
A
 1 a0001c0001t0002g0006
a0001c0001t0002g0006
 1 HG02074.hp1
HG02074.hp1
 intron_variant MODIFIER c.154+65788C>T
c.154+65788C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68367079
chrX:68367081 C
C
 G
G
 1 a0001c0001t0002g0006
a0001c0001t0002g0006
 1 HG02074.hp1
HG02074.hp1
 intron_variant MODIFIER c.154+65786G>C
c.154+65786G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68367081
chrX:68367095 C
C
 T
T
 1 a0001c0001t0005g0152
a0001c0001t0005g0152
 1 HG02630.hp2
HG02630.hp2
 intron_variant MODIFIER c.154+65772G>A
c.154+65772G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68367095
chrX:68367185 T
T
 C
C
 10 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(7): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
 10 HG02572.hp1
HG02615.hp1
HG02922.hp1
others(7): Show 
HG02572.hp1
HG02615.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
NA18906.hp2
 intron_variant MODIFIER c.154+65682A>G
c.154+65682A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68367185
chrX:68367320 C
C
 T
T
 2 a0001c0001t0001g0045
a0001c0001t0001g0078
a0001c0001t0001g0045
a0001c0001t0001g0078
 2 NA19085.hp1
NA19088.hp1
NA19085.hp1
NA19088.hp1
 intron_variant MODIFIER c.154+65547G>A
c.154+65547G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68367320
chrX:68367356 G
G
 GA
GA
 34 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0043
others(31): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0043
a0001c0001t0001g0064
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0134
a0001c0001t0003g0076
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0011
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0107
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
 34 HG00642.hp1
HG00735.hp2
HG00738.hp1
others(31): Show 
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG02055.hp1
HG02071.hp1
HG02258.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp2
HG02630.hp2
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG04115.hp1
NA18522.hp1
NA18747.hp1
NA18944.hp1
NA18966.hp1
NA19000.hp1
NA19004.hp1
 intron_variant MODIFIER c.154+65510dupT
c.154+65510dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68367356
chrX:68367356 G
G
 GAA
GAA
 3 a0001c0001t0001g0038
a0001c0001t0002g0124
a0001c0001t0002g0144
a0001c0001t0001g0038
a0001c0001t0002g0124
a0001c0001t0002g0144
 3 HG02132.hp1
HG02602.hp1
NA18612.hp1
HG02132.hp1
HG02602.hp1
NA18612.hp1
 intron_variant MODIFIER c.154+65509_154+6551
others(6): Show 
c.154+65509_154+65510dupTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68367356
chrX:68367356 G
G
 GAAA
GAAA
 1 a0001c0001t0002g0115
a0001c0001t0002g0115
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.154+65508_154+6551
others(7): Show 
c.154+65508_154+65510dupTTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68367356
chrX:68367852 C
C
 G
G
 67 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(64): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0030g0155
 67 HG00280.hp1
HG00642.hp1
HG00735.hp2
others(64): Show 
HG00280.hp1
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18966.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.154+65015G>C
c.154+65015G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68367852
chrX:68367928 C
C
 T
T
 3 a0001c0001t0004g0004
a0001c0001t0008g0096
a0001c0001t0019g0003
a0001c0001t0004g0004
a0001c0001t0008g0096
a0001c0001t0019g0003
 3 HG02109.hp1
HG02257.hp1
HG02809.hp2
HG02109.hp1
HG02257.hp1
HG02809.hp2
 intron_variant MODIFIER c.154+64939G>A
c.154+64939G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68367928
chrX:68368232 G
G
 A
A
 35 a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
others(32): Show 
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0112
a0001c0001t0018g0104
a0001c0001t0021g0150
a0001c0001t0030g0155
 35 HG00280.hp1
HG01081.hp2
HG01167.hp1
others(32): Show 
HG00280.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02109.hp2
HG02257.hp2
HG02280.hp1
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02647.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03471.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp1
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.154+64635C>T
c.154+64635C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68368232
chrX:68368395 A
A
 C
C
 2 a0001c0001t0002g0124
a0001c0001t0002g0144
a0001c0001t0002g0124
a0001c0001t0002g0144
 2 HG02132.hp1
NA18612.hp1
HG02132.hp1
NA18612.hp1
 intron_variant MODIFIER c.154+64472T>G
c.154+64472T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68368395
chrX:68368542 C
C
 CA
CA
 1 a0001c0001t0011g0061
a0001c0001t0011g0061
 1 NA18982.hp1
NA18982.hp1
 intron_variant MODIFIER c.154+64324dupT
c.154+64324dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68368542
chrX:68368646 T
T
 C
C
 23 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(20): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0032
a0001c0001t0008g0112
a0001c0001t0021g0150
a0001c0001t0030g0155
 23 HG01081.hp2
HG01167.hp1
HG01169.hp1
others(20): Show 
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01891.hp2
HG02055.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03471.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp1
NA18906.hp2
 intron_variant MODIFIER c.154+64221A>G
c.154+64221A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68368646
chrX:68369132 C
C
 T
T
 1 a0001c0001t0030g0155
a0001c0001t0030g0155
 1 HG02895.hp1
HG02895.hp1
 intron_variant MODIFIER c.154+63735G>A
c.154+63735G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68369132
chrX:68369205 G
G
 GA
GA
 4 a0001c0001t0004g0004
a0001c0001t0005g0152
a0001c0001t0008g0096
others(1): Show 
a0001c0001t0004g0004
a0001c0001t0005g0152
a0001c0001t0008g0096
a0001c0001t0019g0003
 4 HG02109.hp1
HG02257.hp1
HG02630.hp2
others(1): Show 
HG02109.hp1
HG02257.hp1
HG02630.hp2
HG02809.hp2
 intron_variant MODIFIER c.154+63661dupT
c.154+63661dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68369205
chrX:68369295 C
C
 T
T
 2 a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0105
a0001c0001t0006g0106
 2 HG02647.hp1
HG02886.hp2
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.154+63572G>A
c.154+63572G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68369295
chrX:68369565 C
C
 T
T
 28 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(25): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0023g0037
 28 HG00642.hp1
HG00735.hp2
HG00738.hp1
others(25): Show 
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG02071.hp1
HG02132.hp1
HG02258.hp1
HG02451.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp2
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02818.hp1
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18944.hp1
NA18966.hp1
 intron_variant MODIFIER c.154+63302G>A
c.154+63302G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68369565
chrX:68369623 A
A
 G
G
 28 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(25): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0023g0037
 28 HG00642.hp1
HG00735.hp2
HG00738.hp1
others(25): Show 
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG02071.hp1
HG02132.hp1
HG02258.hp1
HG02451.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp2
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02818.hp1
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18944.hp1
NA18966.hp1
 intron_variant MODIFIER c.154+63244T>C
c.154+63244T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68369623
chrX:68369718 A
A
 C
C
 1 a0001c0001t0004g0004
a0001c0001t0004g0004
 1 HG02109.hp1
HG02109.hp1
 intron_variant MODIFIER c.154+63149T>G
c.154+63149T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68369718
chrX:68369813 G
G
 A
A
 3 a0001c0001t0004g0004
a0001c0001t0008g0096
a0001c0001t0019g0003
a0001c0001t0004g0004
a0001c0001t0008g0096
a0001c0001t0019g0003
 3 HG02109.hp1
HG02257.hp1
HG02809.hp2
HG02109.hp1
HG02257.hp1
HG02809.hp2
 intron_variant MODIFIER c.154+63054C>T
c.154+63054C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68369813
chrX:68370009 G
G
 GATATATA
others(25): Show 
GATATATATATATATATATATATATATATATAT
 1 a0001c0001t0002g0124
a0001c0001t0002g0124
 1 NA18612.hp1
NA18612.hp1
 intron_variant MODIFIER c.154+62857_154+6285
others(36): Show 
c.154+62857_154+62858insATATATATATATATATATATATATAT
ATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68370009
chrX:68370009 G
G
 GTATATAT
GTATATAT
 1 a0001c0001t0003g0091
a0001c0001t0003g0091
 1 HG00099.hp2
HG00099.hp2
 intron_variant MODIFIER c.154+62857_154+6285
others(11): Show 
c.154+62857_154+62858insATATATA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68370009
chrX:68370010 AAAT
AAAT
 A
A
 1 a0001c0001t0002g0133
a0001c0001t0002g0133
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.154+62854_154+6285
others(7): Show 
c.154+62854_154+62856delATT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68370010
chrX:68370011 A
A
 AAT
AAT
 15 a0001c0001t0001g0017
a0001c0001t0001g0028
a0001c0001t0001g0048
others(12): Show 
a0001c0001t0001g0017
a0001c0001t0001g0028
a0001c0001t0001g0048
a0001c0001t0001g0067
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0088
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0154
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0004c0005t0012g0024
 15 HG01169.hp2
HG01934.hp1
HG02056.hp1
others(12): Show 
HG01169.hp2
HG01934.hp1
HG02056.hp1
HG02083.hp1
HG02735.hp1
HG02738.hp1
HG03017.hp1
HG03688.hp1
HG03710.hp1
NA18952.hp1
NA18962.hp1
NA18971.hp1
NA19005.hp1
NA20752.hp1
NA20805.hp1
 intron_variant MODIFIER c.154+62854_154+6285
others(6): Show 
c.154+62854_154+62855dupAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68370011
chrX:68370011 A
A
 AATAT
AATAT
 10 a0001c0001t0001g0008
a0001c0001t0001g0044
a0001c0001t0001g0052
others(7): Show 
a0001c0001t0001g0008
a0001c0001t0001g0044
a0001c0001t0001g0052
a0001c0001t0001g0153
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0006g0013
a0001c0001t0018g0104
a0003c0004t0014g0102
 10 HG00280.hp1
HG01346.hp1
HG02135.hp1
others(7): Show 
HG00280.hp1
HG01346.hp1
HG02135.hp1
HG02280.hp2
HG02451.hp2
HG02630.hp1
HG02886.hp1
HG02922.hp2
HG03942.hp1
HG04228.hp1
 intron_variant MODIFIER c.154+62852_154+6285
others(8): Show 
c.154+62852_154+62855dupATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68370011
chrX:68370011 A
A
 AATATATA
others(1): Show 
AATATATAT
 3 a0001c0001t0002g0115
a0001c0001t0003g0101
a0001c0001t0020g0099
a0001c0001t0002g0115
a0001c0001t0003g0101
a0001c0001t0020g0099
 3 HG00738.hp1
HG02145.hp1
HG02723.hp1
HG00738.hp1
HG02145.hp1
HG02723.hp1
 intron_variant MODIFIER c.154+62848_154+6285
others(12): Show 
c.154+62848_154+62855dupATATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68370011
chrX:68370011 A
A
 AATATATA
others(3): Show 
AATATATATAT
 1 a0001c0001t0004g0026
a0001c0001t0004g0026
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.154+62846_154+6285
others(14): Show 
c.154+62846_154+62855dupATATATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68370011
chrX:68370011 A
A
 AATATATA
others(7): Show 
AATATATATATATAT
 1 a0001c0001t0004g0034
a0001c0001t0004g0034
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.154+62842_154+6285
others(18): Show 
c.154+62842_154+62855dupATATATATATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68370011
chrX:68370011 A
A
 AATATATA
others(9): Show 
AATATATATATATATAT
 1 a0001c0001t0004g0030
a0001c0001t0004g0030
 1 HG01081.hp2
HG01081.hp2
 intron_variant MODIFIER c.154+62840_154+6285
others(20): Show 
c.154+62840_154+62855dupATATATATATATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68370011
chrX:68370011 A
A
 AATATATA
others(11): Show 
AATATATATATATATATAT
 1 a0001c0001t0021g0150
a0001c0001t0021g0150
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.154+62838_154+6285
others(22): Show 
c.154+62838_154+62855dupATATATATATATATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68370011
chrX:68370011 A
A
 AATATATA
others(13): Show 
AATATATATATATATATATAT
 3 a0001c0001t0002g0134
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0002g0134
a0001c0001t0006g0120
a0001c0001t0006g0121
 3 HG01167.hp1
HG01169.hp1
HG02559.hp2
HG01167.hp1
HG01169.hp1
HG02559.hp2
 intron_variant MODIFIER c.154+62836_154+6285
others(24): Show 
c.154+62836_154+62855dupATATATATATATATATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68370011
chrX:68370011 A
A
 AATATATA
others(15): Show 
AATATATATATATATATATATAT
 3 a0001c0001t0001g0077
a0001c0001t0001g0143
a0001c0001t0016g0119
a0001c0001t0001g0077
a0001c0001t0001g0143
a0001c0001t0016g0119
 3 HG02071.hp1
HG02683.hp1
HG03490.hp1
HG02071.hp1
HG02683.hp1
HG03490.hp1
 intron_variant MODIFIER c.154+62834_154+6285
others(26): Show 
c.154+62834_154+62855dupATATATATATATATATATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68370011
chrX:68370011 A
A
 AATATATA
others(19): Show 
AATATATATATATATATATATATATAT
 3 a0001c0001t0001g0145
a0001c0001t0002g0125
a0001c0001t0009g0129
a0001c0001t0001g0145
a0001c0001t0002g0125
a0001c0001t0009g0129
 3 HG01243.hp1
HG01255.hp1
NA18944.hp1
HG01243.hp1
HG01255.hp1
NA18944.hp1
 intron_variant MODIFIER c.154+62830_154+6285
others(30): Show 
c.154+62830_154+62855dupATATATATATATATATATATATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68370011
chrX:68370011 A
A
 AATATATA
others(21): Show 
AATATATATATATATATATATATATATAT
 3 a0001c0001t0001g0140
a0001c0001t0002g0127
a0001c0001t0005g0136
a0001c0001t0001g0140
a0001c0001t0002g0127
a0001c0001t0005g0136
 3 HG02717.hp1
HG03540.hp1
NA18966.hp1
HG02717.hp1
HG03540.hp1
NA18966.hp1
 intron_variant MODIFIER c.154+62828_154+6285
others(32): Show 
c.154+62828_154+62855dupATATATATATATATATATATATATAT
AT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68370011
chrX:68370011 A
A
 AATATATA
others(23): Show 
AATATATATATATATATATATATATATATAT
 2 a0001c0001t0009g0128
a0001c0001t0023g0037
a0001c0001t0009g0128
a0001c0001t0023g0037
 2 HG02451.hp1
HG04115.hp1
HG02451.hp1
HG04115.hp1
 intron_variant MODIFIER c.154+62826_154+6285
others(34): Show 
c.154+62826_154+62855dupATATATATATATATATATATATATAT
ATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68370011
chrX:68370011 A
A
 AATATATA
others(25): Show 
AATATATATATATATATATATATATATATATAT
 1 a0001c0001t0005g0137
a0001c0001t0005g0137
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.154+62824_154+6285
others(36): Show 
c.154+62824_154+62855dupATATATATATATATATATATATATAT
ATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68370011
chrX:68370011 A
A
 AATATATA
others(27): Show 
AATATATATATATATATATATATATATATATATAT
 3 a0001c0001t0003g0113
a0001c0001t0004g0095
a0001c0001t0005g0152
a0001c0001t0003g0113
a0001c0001t0004g0095
a0001c0001t0005g0152
 3 HG02630.hp2
HG02723.hp2
HG03516.hp1
HG02630.hp2
HG02723.hp2
HG03516.hp1
 intron_variant MODIFIER c.154+62855_154+6285
others(38): Show 
c.154+62855_154+62856insATATATATATATATATATATATATAT
ATATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68370011
chrX:68370011 A
A
 AATATATA
others(29): Show 
AATATATATATATATATATATATATATATATATATAT
 3 a0001c0001t0002g0144
a0001c0001t0004g0005
a0001c0001t0022g0103
a0001c0001t0002g0144
a0001c0001t0004g0005
a0001c0001t0022g0103
 3 HG00735.hp2
HG01081.hp1
HG02132.hp1
HG00735.hp2
HG01081.hp1
HG02132.hp1
 intron_variant MODIFIER c.154+62855_154+6285
others(40): Show 
c.154+62855_154+62856insATATATATATATATATATATATATAT
ATATATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68370011
chrX:68370011 A
A
 AATATATA
others(31): Show 
AATATATATATATATATATATATATATATATATATATAT
 3 a0001c0001t0001g0071
a0001c0001t0003g0139
a0001c0001t0005g0138
a0001c0001t0001g0071
a0001c0001t0003g0139
a0001c0001t0005g0138
 3 HG00642.hp1
HG02258.hp1
HG02976.hp1
HG00642.hp1
HG02258.hp1
HG02976.hp1
 intron_variant MODIFIER c.154+62855_154+6285
others(42): Show 
c.154+62855_154+62856insATATATATATATATATATATATATAT
ATATATATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68370011
chrX:68370011 A
A
 AATATATA
others(35): Show 
AATATATATATATATATATATATATATATATATATATATATAT
 1 a0001c0001t0004g0094
a0001c0001t0004g0094
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.154+62855_154+6285
others(46): Show 
c.154+62855_154+62856insATATATATATATATATATATATATAT
ATATATATATATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68370011
chrX:68370011 A
A
 AATATATA
others(39): Show 
AATATATATATATATATATATATATATATATATATATATATATATAT
 1 a0001c0001t0001g0038
a0001c0001t0001g0038
 1 HG02602.hp1
HG02602.hp1
 intron_variant MODIFIER c.154+62855_154+6285
others(50): Show 
c.154+62855_154+62856insATATATATATATATATATATATATAT
ATATATATATATATATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68370011
chrX:68370011 A
A
 ATATATAT
others(2): Show 
ATATATATAT
 1 a0001c0001t0027g0072
a0001c0001t0027g0072
 1 HG00099.hp1
HG00099.hp1
 intron_variant MODIFIER c.154+62855_154+6285
others(13): Show 
c.154+62855_154+62856insATATATATA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68370011
chrX:68370011 A
A
 T
T
 2 a0001c0001t0002g0124
a0001c0001t0003g0091
a0001c0001t0002g0124
a0001c0001t0003g0091
 2 HG00099.hp2
NA18612.hp1
HG00099.hp2
NA18612.hp1
 intron_variant MODIFIER c.154+62856T>A
c.154+62856T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68370011
chrX:68370011 AAT
AAT
 A
A
 11 a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0135
others(8): Show 
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0135
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0111
a0001c0001t0005g0110
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0008g0112
 11 HG02109.hp2
HG02257.hp2
HG02280.hp1
others(8): Show 
HG02109.hp2
HG02257.hp2
HG02280.hp1
HG02559.hp1
HG02809.hp1
HG02818.hp2
HG02976.hp2
HG03540.hp2
NA18906.hp2
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.154+62854_154+6285
others(6): Show 
c.154+62854_154+62855delAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68370011
chrX:68370011 AATAT
AATAT
 A
A
 17 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(14): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0003g0109
a0001c0001t0003g0118
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0019g0003
a0001c0001t0030g0155
 17 HG01891.hp2
HG02109.hp1
HG02257.hp1
others(14): Show 
HG01891.hp2
HG02109.hp1
HG02257.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02647.hp1
HG02809.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
 intron_variant MODIFIER c.154+62852_154+6285
others(8): Show 
c.154+62852_154+62855delATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68370011
chrX:68370011 AATATATA
others(7): Show 
AATATATATATATAT
 A
A
 1 a0001c0001t0003g0151
a0001c0001t0003g0151
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.154+62842_154+6285
others(18): Show 
c.154+62842_154+62855delATATATATATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68370011
chrX:68370199 A
A
 G
G
 3 a0001c0001t0002g0021
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0002g0021
a0001c0001t0007g0022
a0001c0001t0007g0023
 3 HG02257.hp2
HG02559.hp1
NA19030.hp2
HG02257.hp2
HG02559.hp1
NA19030.hp2
 intron_variant MODIFIER c.154+62668T>C
c.154+62668T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68370199
chrX:68370506 CA
CA
 C
C
 2 a0001c0001t0003g0063
a0004c0005t0012g0024
a0001c0001t0003g0063
a0004c0005t0012g0024
 2 HG01169.hp2
HG04199.hp1
HG01169.hp2
HG04199.hp1
 intron_variant MODIFIER c.154+62360delT
c.154+62360delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68370506
chrX:68371082 T
T
 C
C
 9 a0001c0001t0003g0101
a0001c0001t0004g0004
a0001c0001t0004g0010
others(6): Show 
a0001c0001t0003g0101
a0001c0001t0004g0004
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0006g0013
a0001c0001t0008g0096
a0001c0001t0019g0003
a0003c0004t0014g0102
 9 HG02109.hp1
HG02257.hp1
HG02280.hp2
others(6): Show 
HG02109.hp1
HG02257.hp1
HG02280.hp2
HG02451.hp2
HG02630.hp1
HG02723.hp1
HG02809.hp2
HG02886.hp1
HG02922.hp2
 intron_variant MODIFIER c.154+61785A>G
c.154+61785A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68371082
chrX:68371219 C
C
 CT
CT
 34 a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
others(31): Show 
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0117
a0001c0001t0005g0110
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0008g0112
a0001c0001t0018g0104
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0030g0155
 34 HG00280.hp1
HG00738.hp1
HG01081.hp2
others(31): Show 
HG00280.hp1
HG00738.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02109.hp2
HG02257.hp2
HG02280.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02647.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03471.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp1
NA18906.hp2
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.154+61647dupA
c.154+61647dupA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68371219
chrX:68371219 C
C
 CTT
CTT
 3 a0001c0001t0001g0153
a0001c0001t0005g0107
a0001c0001t0007g0033
a0001c0001t0001g0153
a0001c0001t0005g0107
a0001c0001t0007g0033
 3 HG02486.hp1
HG04228.hp1
NA19030.hp1
HG02486.hp1
HG04228.hp1
NA19030.hp1
 intron_variant MODIFIER c.154+61646_154+6164
others(6): Show 
c.154+61646_154+61647dupAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68371219
chrX:68371219 CT
CT
 C
C
 6 a0001c0001t0003g0101
a0001c0001t0004g0010
a0001c0001t0004g0011
others(3): Show 
a0001c0001t0003g0101
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0006g0013
a0003c0004t0014g0102
 6 HG02280.hp2
HG02451.hp2
HG02630.hp1
others(3): Show 
HG02280.hp2
HG02451.hp2
HG02630.hp1
HG02723.hp1
HG02886.hp1
HG02922.hp2
 intron_variant MODIFIER c.154+61647delA
c.154+61647delA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68371219
chrX:68371276 G
G
 A
A
 36 a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
others(33): Show 
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0112
a0001c0001t0018g0104
a0001c0001t0021g0150
a0001c0001t0030g0155
 36 HG00280.hp1
HG01081.hp2
HG01167.hp1
others(33): Show 
HG00280.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02280.hp1
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02647.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03471.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp1
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.154+61591C>T
c.154+61591C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68371276
chrX:68371286 C
C
 T
T
 2 a0001c0001t0001g0079
a0001c0001t0001g0090
a0001c0001t0001g0079
a0001c0001t0001g0090
 2 HG01433.hp1
NA20752.hp1
HG01433.hp1
NA20752.hp1
 intron_variant MODIFIER c.154+61581G>A
c.154+61581G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68371286
chrX:68371374 C
C
 A
A
 28 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(25): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0023g0037
 28 HG00642.hp1
HG00735.hp2
HG00738.hp1
others(25): Show 
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG02071.hp1
HG02132.hp1
HG02258.hp1
HG02451.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp2
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02818.hp1
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18944.hp1
NA18966.hp1
 intron_variant MODIFIER c.154+61493G>T
c.154+61493G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68371374
chrX:68371379 G
G
 T
T
 36 a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
others(33): Show 
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0112
a0001c0001t0018g0104
a0001c0001t0021g0150
a0001c0001t0030g0155
 36 HG00280.hp1
HG01081.hp2
HG01167.hp1
others(33): Show 
HG00280.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02280.hp1
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02647.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03471.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp1
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.154+61488C>A
c.154+61488C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68371379
chrX:68372024 T
T
 C
C
 28 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(25): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0023g0037
 28 HG00642.hp1
HG00735.hp2
HG00738.hp1
others(25): Show 
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG02071.hp1
HG02132.hp1
HG02258.hp1
HG02451.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp2
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02818.hp1
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18944.hp1
NA18966.hp1
 intron_variant MODIFIER c.154+60843A>G
c.154+60843A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68372024
chrX:68372150 C
C
 CA
CA
 1 a0001c0001t0001g0082
a0001c0001t0001g0082
 1 HG03710.hp1
HG03710.hp1
 intron_variant MODIFIER c.154+60716dupT
c.154+60716dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68372150
chrX:68372150 C
C
 T
T
 1 a0001c0001t0030g0155
a0001c0001t0030g0155
 1 HG02895.hp1
HG02895.hp1
 intron_variant MODIFIER c.154+60717G>A
c.154+60717G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68372150
chrX:68372379 T
T
 C
C
 1 a0001c0001t0029g0031
a0001c0001t0029g0031
 1 NA18962.hp1
NA18962.hp1
 intron_variant MODIFIER c.154+60488A>G
c.154+60488A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68372379
chrX:68372439 G
G
 A
A
 2 a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0105
a0001c0001t0006g0106
 2 HG02647.hp1
HG02886.hp2
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.154+60428C>T
c.154+60428C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68372439
chrX:68372843 C
C
 T
T
 1 a0001c0001t0016g0119
a0001c0001t0016g0119
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.154+60024G>A
c.154+60024G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68372843
chrX:68373007 A
A
 T
T
 1 a0001c0001t0002g0019
a0001c0001t0002g0019
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.154+59860T>A
c.154+59860T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68373007
chrX:68373467 C
C
 A
A
 1 a0001c0001t0001g0086
a0001c0001t0001g0086
 1 NA19060.hp1
NA19060.hp1
 intron_variant MODIFIER c.154+59400G>T
c.154+59400G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68373467
chrX:68373692 ACT
ACT
 A
A
 1 a0001c0001t0011g0061
a0001c0001t0011g0061
 1 NA18982.hp1
NA18982.hp1
 intron_variant MODIFIER c.154+59173_154+5917
others(6): Show 
c.154+59173_154+59174delAG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68373692
chrX:68374095 T
T
 C
C
 29 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(26): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0029g0031
 29 HG00642.hp1
HG00735.hp2
HG00738.hp1
others(26): Show 
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG02071.hp1
HG02132.hp1
HG02258.hp1
HG02451.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp2
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02818.hp1
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18944.hp1
NA18962.hp1
NA18966.hp1
 intron_variant MODIFIER c.154+58772A>G
c.154+58772A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68374095
chrX:68374101 T
T
 A
A
 2 a0002c0002t0001g0002
a0002c0002t0003g0001
a0002c0002t0001g0002
a0002c0002t0003g0001
 2 HG01358.hp1
homoSapiens_chm13v2.hp1
HG01358.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.154+58766A>T
c.154+58766A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68374101
chrX:68374275 G
G
 T
T
 29 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(26): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0029g0031
 29 HG00642.hp1
HG00735.hp2
HG00738.hp1
others(26): Show 
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG02071.hp1
HG02132.hp1
HG02258.hp1
HG02451.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp2
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02818.hp1
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18944.hp1
NA18962.hp1
NA18966.hp1
 intron_variant MODIFIER c.154+58592C>A
c.154+58592C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68374275
chrX:68374336 C
C
 G
G
 1 a0001c0001t0002g0083
a0001c0001t0002g0083
 1 NA18948.hp1
NA18948.hp1
 intron_variant MODIFIER c.154+58531G>C
c.154+58531G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68374336
chrX:68374347 T
T
 C
C
 1 a0001c0001t0001g0043
a0001c0001t0001g0043
 1 NA18747.hp1
NA18747.hp1
 intron_variant MODIFIER c.154+58520A>G
c.154+58520A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68374347
chrX:68374354 C
C
 CA
CA
 13 a0001c0001t0001g0038
a0001c0001t0002g0019
a0001c0001t0002g0021
others(10): Show 
a0001c0001t0001g0038
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0133
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0122
a0001c0001t0004g0010
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0018g0104
a0001c0001t0024g0007
 13 HG00280.hp1
HG01891.hp1
HG02109.hp2
others(10): Show 
HG00280.hp1
HG01891.hp1
HG02109.hp2
HG02257.hp2
HG02280.hp1
HG02451.hp2
HG02559.hp1
HG02602.hp1
HG02809.hp1
NA19000.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.154+58512dupT
c.154+58512dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68374354
chrX:68374354 C
C
 CAA
CAA
 27 a0001c0001t0001g0008
a0001c0001t0001g0071
a0001c0001t0001g0077
others(24): Show 
a0001c0001t0001g0008
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0113
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0029g0031
 27 HG00642.hp1
HG00735.hp2
HG00738.hp1
others(24): Show 
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG02071.hp1
HG02132.hp1
HG02451.hp1
HG02559.hp2
HG02630.hp2
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02818.hp1
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18944.hp1
NA18962.hp1
NA18966.hp1
 intron_variant MODIFIER c.154+58511_154+5851
others(6): Show 
c.154+58511_154+58512dupTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68374354
chrX:68374354 C
C
 CAAA
CAAA
 1 a0001c0001t0003g0139
a0001c0001t0003g0139
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.154+58510_154+5851
others(7): Show 
c.154+58510_154+58512dupTTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68374354
chrX:68374354 CA
CA
 C
C
 1 a0001c0001t0001g0025
a0001c0001t0001g0025
 1 HG01515.hp1
HG01515.hp1
 intron_variant MODIFIER c.154+58512delT
c.154+58512delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68374354
chrX:68374554 C
C
 G
G
 1 a0001c0001t0002g0115
a0001c0001t0002g0115
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.154+58313G>C
c.154+58313G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68374554
chrX:68374561 A
A
 C
C
 68 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(65): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0029g0031
a0001c0001t0030g0155
 68 HG00280.hp1
HG00642.hp1
HG00735.hp2
others(65): Show 
HG00280.hp1
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18962.hp1
NA18966.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.154+58306T>G
c.154+58306T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68374561
chrX:68374868 C
C
 T
T
 1 a0001c0001t0003g0076
a0001c0001t0003g0076
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.154+57999G>A
c.154+57999G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68374868
chrX:68375148 CA
CA
 C
C
 1 a0002c0002t0001g0002
a0002c0002t0001g0002
 1 HG01358.hp1
HG01358.hp1
 intron_variant MODIFIER c.154+57718delT
c.154+57718delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68375148
chrX:68375150 A
A
 C
C
 4 a0001c0001t0004g0004
a0001c0001t0008g0096
a0001c0001t0019g0003
others(1): Show 
a0001c0001t0004g0004
a0001c0001t0008g0096
a0001c0001t0019g0003
a0001c0001t0021g0150
 4 HG02109.hp1
HG02257.hp1
HG02809.hp2
others(1): Show 
HG02109.hp1
HG02257.hp1
HG02809.hp2
HG03471.hp1
 intron_variant MODIFIER c.154+57717T>G
c.154+57717T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68375150
chrX:68375272 C
C
 T
T
 1 a0001c0001t0030g0155
a0001c0001t0030g0155
 1 HG02895.hp1
HG02895.hp1
 intron_variant MODIFIER c.154+57595G>A
c.154+57595G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68375272
chrX:68375295 C
C
 T
T
 3 a0001c0001t0004g0004
a0001c0001t0008g0096
a0001c0001t0019g0003
a0001c0001t0004g0004
a0001c0001t0008g0096
a0001c0001t0019g0003
 3 HG02109.hp1
HG02257.hp1
HG02809.hp2
HG02109.hp1
HG02257.hp1
HG02809.hp2
 intron_variant MODIFIER c.154+57572G>A
c.154+57572G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68375295
chrX:68375549 T
T
 C
C
 3 a0001c0001t0004g0004
a0001c0001t0008g0096
a0001c0001t0019g0003
a0001c0001t0004g0004
a0001c0001t0008g0096
a0001c0001t0019g0003
 3 HG02109.hp1
HG02257.hp1
HG02809.hp2
HG02109.hp1
HG02257.hp1
HG02809.hp2
 intron_variant MODIFIER c.154+57318A>G
c.154+57318A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68375549
chrX:68375573 C
C
 T
T
 6 a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
others(3): Show 
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0021g0150
 6 HG01081.hp2
HG01167.hp1
HG01169.hp1
others(3): Show 
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG02055.hp1
HG03471.hp1
NA18906.hp1
 intron_variant MODIFIER c.154+57294G>A
c.154+57294G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68375573
chrX:68375602 T
T
 G
G
 68 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(65): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0029g0031
a0001c0001t0030g0155
 68 HG00280.hp1
HG00642.hp1
HG00735.hp2
others(65): Show 
HG00280.hp1
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18962.hp1
NA18966.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.154+57265A>C
c.154+57265A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68375602
chrX:68375717 A
A
 AT
AT
 63 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(60): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0029g0031
a0001c0001t0030g0155
 63 HG00280.hp1
HG00642.hp1
HG00735.hp2
others(60): Show 
HG00280.hp1
HG00642.hp1
HG00735.hp2
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02071.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18962.hp1
NA18966.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.154+57149dupA
c.154+57149dupA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68375717
chrX:68375917 G
G
 A
A
 1 a0001c0001t0007g0032
a0001c0001t0007g0032
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.154+56950C>T
c.154+56950C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68375917
chrX:68376072 T
T
 C
C
 63 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(60): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0029g0031
a0001c0001t0030g0155
 63 HG00280.hp1
HG00642.hp1
HG00735.hp2
others(60): Show 
HG00280.hp1
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02071.hp1
HG02109.hp2
HG02132.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18962.hp1
NA18966.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.154+56795A>G
c.154+56795A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68376072
chrX:68376108 T
T
 C
C
 63 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(60): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0029g0031
a0001c0001t0030g0155
 63 HG00280.hp1
HG00642.hp1
HG00735.hp2
others(60): Show 
HG00280.hp1
HG00642.hp1
HG00735.hp2
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02071.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18962.hp1
NA18966.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.154+56759A>G
c.154+56759A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68376108
chrX:68376149 TC
TC
 T
T
 1 a0001c0001t0001g0040
a0001c0001t0001g0040
 1 NA18965.hp1
NA18965.hp1
 intron_variant MODIFIER c.154+56717delG
c.154+56717delG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68376149
chrX:68376326 G
G
 A
A
 2 a0001c0001t0001g0068
a0001c0001t0001g0073
a0001c0001t0001g0068
a0001c0001t0001g0073
 2 NA19066.hp1
NA19068.hp1
NA19066.hp1
NA19068.hp1
 intron_variant MODIFIER c.154+56541C>T
c.154+56541C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68376326
chrX:68376563 A
A
 G
G
 1 a0001c0001t0020g0099
a0001c0001t0020g0099
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.154+56304T>C
c.154+56304T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68376563
chrX:68376930 C
C
 CT
CT
 3 a0001c0001t0001g0027
a0001c0001t0001g0082
a0001c0001t0003g0076
a0001c0001t0001g0027
a0001c0001t0001g0082
a0001c0001t0003g0076
 3 HG01192.hp1
HG03710.hp1
NA18994.hp1
HG01192.hp1
HG03710.hp1
NA18994.hp1
 intron_variant MODIFIER c.154+55936dupA
c.154+55936dupA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68376930
chrX:68376930 CT
CT
 C
C
 8 a0001c0001t0002g0115
a0001c0001t0004g0004
a0001c0001t0004g0010
others(5): Show 
a0001c0001t0002g0115
a0001c0001t0004g0004
a0001c0001t0004g0010
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0019g0003
a0001c0001t0020g0099
a0004c0005t0012g0024
 8 HG00738.hp1
HG01169.hp2
HG02109.hp1
others(5): Show 
HG00738.hp1
HG01169.hp2
HG02109.hp1
HG02145.hp1
HG02257.hp1
HG02451.hp2
HG02809.hp2
HG03130.hp1
 intron_variant MODIFIER c.154+55936delA
c.154+55936delA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68376930
chrX:68376930 CTT
CTT
 C
C
 62 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(59): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0029g0031
a0001c0001t0030g0155
 62 HG00280.hp1
HG00642.hp1
HG00735.hp2
others(59): Show 
HG00280.hp1
HG00642.hp1
HG00735.hp2
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02071.hp1
HG02109.hp2
HG02132.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18962.hp1
NA18966.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.154+55935_154+5593
others(6): Show 
c.154+55935_154+55936delAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68376930
chrX:68377014 C
C
 T
T
 1 a0001c0001t0020g0099
a0001c0001t0020g0099
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.154+55853G>A
c.154+55853G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68377014
chrX:68377096 A
A
 AT
AT
 6 a0001c0001t0001g0062
a0001c0001t0001g0088
a0001c0001t0008g0096
others(3): Show 
a0001c0001t0001g0062
a0001c0001t0001g0088
a0001c0001t0008g0096
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0025g0087
 6 HG00738.hp1
HG02056.hp1
HG02257.hp1
others(3): Show 
HG00738.hp1
HG02056.hp1
HG02257.hp1
HG02809.hp2
NA18943.hp1
NA19009.hp1
 intron_variant MODIFIER c.154+55770dupA
c.154+55770dupA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68377096
chrX:68377096 AT
AT
 A
A
 39 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(36): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0101
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0028g0084
a0001c0001t0029g0031
a0003c0004t0014g0102
 39 HG00642.hp1
HG00735.hp2
HG01081.hp1
others(36): Show 
HG00642.hp1
HG00735.hp2
HG01081.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG01891.hp1
HG01891.hp2
HG02071.hp1
HG02132.hp1
HG02258.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02886.hp1
HG02922.hp2
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18944.hp1
NA18962.hp1
NA18966.hp1
NA19070.hp1
 intron_variant MODIFIER c.154+55770delA
c.154+55770delA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68377096
chrX:68377096 ATT
ATT
 A
A
 1 a0001c0001t0002g0115
a0001c0001t0002g0115
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.154+55769_154+5577
others(6): Show 
c.154+55769_154+55770delAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68377096
chrX:68377114 T
T
 A
A
 1 a0001c0001t0001g0077
a0001c0001t0001g0077
 1 HG02071.hp1
HG02071.hp1
 intron_variant MODIFIER c.154+55753A>T
c.154+55753A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68377114
chrX:68377210 C
C
 A
A
 1 a0001c0001t0002g0115
a0001c0001t0002g0115
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.154+55657G>T
c.154+55657G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68377210
chrX:68377400 CT
CT
 C
C
 1 a0001c0001t0007g0032
a0001c0001t0007g0032
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.154+55466delA
c.154+55466delA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68377400
chrX:68377429 T
T
 A
A
 68 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(65): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0029g0031
a0001c0001t0030g0155
 68 HG00280.hp1
HG00642.hp1
HG00735.hp2
others(65): Show 
HG00280.hp1
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18962.hp1
NA18966.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.154+55438A>T
c.154+55438A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68377429
chrX:68377518 T
T
 C
C
 1 a0001c0001t0001g0149
a0001c0001t0001g0149
 1 NA20805.hp1
NA20805.hp1
 intron_variant MODIFIER c.154+55349A>G
c.154+55349A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68377518
chrX:68377621 C
C
 T
T
 1 a0001c0001t0002g0115
a0001c0001t0002g0115
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.154+55246G>A
c.154+55246G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68377621
chrX:68377622 C
C
 T
T
 1 a0001c0001t0020g0099
a0001c0001t0020g0099
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.154+55245G>A
c.154+55245G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68377622
chrX:68377715 A
A
 T
T
 1 a0001c0001t0001g0086
a0001c0001t0001g0086
 1 NA19060.hp1
NA19060.hp1
 intron_variant MODIFIER c.154+55152T>A
c.154+55152T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68377715
chrX:68377765 A
A
 C
C
 3 a0001c0001t0004g0004
a0001c0001t0008g0096
a0001c0001t0019g0003
a0001c0001t0004g0004
a0001c0001t0008g0096
a0001c0001t0019g0003
 3 HG02109.hp1
HG02257.hp1
HG02809.hp2
HG02109.hp1
HG02257.hp1
HG02809.hp2
 intron_variant MODIFIER c.154+55102T>G
c.154+55102T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68377765
chrX:68378115 T
T
 C
C
 1 a0001c0001t0017g0036
a0001c0001t0017g0036
 1 HG01952.hp1
HG01952.hp1
 intron_variant MODIFIER c.154+54752A>G
c.154+54752A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68378115
chrX:68378150 G
G
 A
A
 1 a0001c0001t0007g0032
a0001c0001t0007g0032
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.154+54717C>T
c.154+54717C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68378150
chrX:68378268 C
C
 T
T
 1 a0001c0001t0001g0043
a0001c0001t0001g0043
 1 NA18747.hp1
NA18747.hp1
 intron_variant MODIFIER c.154+54599G>A
c.154+54599G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68378268
chrX:68378269 G
G
 GA
GA
 1 a0001c0001t0001g0043
a0001c0001t0001g0043
 1 NA18747.hp1
NA18747.hp1
 intron_variant MODIFIER c.154+54597dupT
c.154+54597dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68378269
chrX:68378373 T
T
 C
C
 1 a0001c0001t0001g0082
a0001c0001t0001g0082
 1 HG03710.hp1
HG03710.hp1
 intron_variant MODIFIER c.154+54494A>G
c.154+54494A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68378373
chrX:68378386 G
G
 C
C
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.154+54481C>G
c.154+54481C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68378386
chrX:68378391 A
A
 C
C
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.154+54476T>G
c.154+54476T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68378391
chrX:68378448 G
G
 T
T
 66 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(63): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0029g0031
a0001c0001t0030g0155
 66 HG00280.hp1
HG00642.hp1
HG00735.hp2
others(63): Show 
HG00280.hp1
HG00642.hp1
HG00735.hp2
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18962.hp1
NA18966.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.154+54419C>A
c.154+54419C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68378448
chrX:68378449 G
G
 A
A
 4 a0001c0001t0002g0115
a0001c0001t0004g0004
a0001c0001t0008g0096
others(1): Show 
a0001c0001t0002g0115
a0001c0001t0004g0004
a0001c0001t0008g0096
a0001c0001t0019g0003
 4 HG02109.hp1
HG02145.hp1
HG02257.hp1
others(1): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp1
HG02809.hp2
 intron_variant MODIFIER c.154+54418C>T
c.154+54418C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68378449
chrX:68378820 G
G
 C
C
 1 a0001c0001t0002g0116
a0001c0001t0002g0116
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.154+54047C>G
c.154+54047C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68378820
chrX:68378959 A
A
 G
G
 2 a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0105
a0001c0001t0006g0106
 2 HG02647.hp1
HG02886.hp2
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.154+53908T>C
c.154+53908T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68378959
chrX:68378976 A
A
 T
T
 29 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(26): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0029g0031
 29 HG00642.hp1
HG00735.hp2
HG01081.hp1
others(26): Show 
HG00642.hp1
HG00735.hp2
HG01081.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG02071.hp1
HG02132.hp1
HG02258.hp1
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02630.hp2
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02818.hp1
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18944.hp1
NA18962.hp1
NA18966.hp1
 intron_variant MODIFIER c.154+53891T>A
c.154+53891T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68378976
chrX:68379148 C
C
 T
T
 1 a0001c0001t0001g0145
a0001c0001t0001g0145
 1 NA18944.hp1
NA18944.hp1
 intron_variant MODIFIER c.154+53719G>A
c.154+53719G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68379148
chrX:68379224 GCTCT
GCTCT
 G
G
 1 a0001c0001t0007g0032
a0001c0001t0007g0032
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.154+53639_154+5364
others(8): Show 
c.154+53639_154+53642delAGAG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68379224
chrX:68379427 C
C
 A
A
 4 a0001c0001t0002g0115
a0001c0001t0004g0004
a0001c0001t0008g0096
others(1): Show 
a0001c0001t0002g0115
a0001c0001t0004g0004
a0001c0001t0008g0096
a0001c0001t0019g0003
 4 HG02109.hp1
HG02145.hp1
HG02257.hp1
others(1): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp1
HG02809.hp2
 intron_variant MODIFIER c.154+53440G>T
c.154+53440G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68379427
chrX:68379440 G
G
 T
T
 66 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(63): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0029g0031
a0001c0001t0030g0155
 66 HG00280.hp1
HG00642.hp1
HG00735.hp2
others(63): Show 
HG00280.hp1
HG00642.hp1
HG00735.hp2
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18962.hp1
NA18966.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.154+53427C>A
c.154+53427C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68379440
chrX:68379502 T
T
 C
C
 1 a0001c0001t0002g0108
a0001c0001t0002g0108
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.154+53365A>G
c.154+53365A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68379502
chrX:68379576 T
T
 C
C
 1 a0001c0001t0027g0072
a0001c0001t0027g0072
 1 HG00099.hp1
HG00099.hp1
 intron_variant MODIFIER c.154+53291A>G
c.154+53291A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68379576
chrX:68379598 C
C
 T
T
 1 a0001c0001t0004g0004
a0001c0001t0004g0004
 1 HG02109.hp1
HG02109.hp1
 intron_variant MODIFIER c.154+53269G>A
c.154+53269G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68379598
chrX:68379786 G
G
 C
C
 1 a0001c0001t0027g0072
a0001c0001t0027g0072
 1 HG00099.hp1
HG00099.hp1
 intron_variant MODIFIER c.154+53081C>G
c.154+53081C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68379786
chrX:68379811 G
G
 GTGC
GTGC
 66 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(63): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0029g0031
a0001c0001t0030g0155
 66 HG00280.hp1
HG00642.hp1
HG00735.hp2
others(63): Show 
HG00280.hp1
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG04115.hp1
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18962.hp1
NA18966.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.154+53053_154+5305
others(7): Show 
c.154+53053_154+53055dupGCA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68379811
chrX:68379815 T
T
 TGCC
TGCC
 2 a0001c0001t0002g0124
a0001c0001t0002g0144
a0001c0001t0002g0124
a0001c0001t0002g0144
 2 HG02132.hp1
NA18612.hp1
HG02132.hp1
NA18612.hp1
 intron_variant MODIFIER c.154+53051_154+5305
others(7): Show 
c.154+53051_154+53052insGGC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68379815
chrX:68379866 G
G
 A
A
 1 a0001c0001t0007g0032
a0001c0001t0007g0032
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.154+53001C>T
c.154+53001C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68379866
chrX:68379875 G
G
 C
C
 2 a0001c0001t0001g0147
a0001c0001t0003g0100
a0001c0001t0001g0147
a0001c0001t0003g0100
 2 HG01106.hp1
HG01934.hp1
HG01106.hp1
HG01934.hp1
 intron_variant MODIFIER c.154+52992C>G
c.154+52992C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68379875
chrX:68379931 G
G
 A
A
 28 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(25): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0029g0031
 28 HG00642.hp1
HG00735.hp2
HG01081.hp1
others(25): Show 
HG00642.hp1
HG00735.hp2
HG01081.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG02071.hp1
HG02132.hp1
HG02258.hp1
HG02451.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp2
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02818.hp1
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18944.hp1
NA18962.hp1
NA18966.hp1
 intron_variant MODIFIER c.154+52936C>T
c.154+52936C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68379931
chrX:68379964 T
T
 C
C
 67 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(64): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0029g0031
a0001c0001t0030g0155
 67 HG00280.hp1
HG00642.hp1
HG00735.hp2
others(64): Show 
HG00280.hp1
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18962.hp1
NA18966.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.154+52903A>G
c.154+52903A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68379964
chrX:68380126 G
G
 A
A
 68 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(65): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0029g0031
a0001c0001t0030g0155
 68 HG00280.hp1
HG00642.hp1
HG00735.hp2
others(65): Show 
HG00280.hp1
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18962.hp1
NA18966.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.154+52741C>T
c.154+52741C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68380126
chrX:68380141 T
T
 G
G
 10 a0001c0001t0002g0115
a0001c0001t0004g0004
a0001c0001t0004g0026
others(7): Show 
a0001c0001t0002g0115
a0001c0001t0004g0004
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0008g0096
a0001c0001t0019g0003
a0001c0001t0021g0150
 10 HG01081.hp2
HG01167.hp1
HG01169.hp1
others(7): Show 
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG02055.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp1
HG02809.hp2
HG03471.hp1
NA18906.hp1
 intron_variant MODIFIER c.154+52726A>C
c.154+52726A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68380141
chrX:68380187 T
T
 C
C
 1 a0001c0001t0020g0099
a0001c0001t0020g0099
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.154+52680A>G
c.154+52680A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68380187
chrX:68380194 T
T
 C
C
 2 a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0105
a0001c0001t0006g0106
 2 HG02647.hp1
HG02886.hp2
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.154+52673A>G
c.154+52673A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68380194
chrX:68380197 A
A
 G
G
 10 a0001c0001t0002g0115
a0001c0001t0004g0004
a0001c0001t0004g0026
others(7): Show 
a0001c0001t0002g0115
a0001c0001t0004g0004
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0008g0096
a0001c0001t0019g0003
a0001c0001t0021g0150
 10 HG01081.hp2
HG01167.hp1
HG01169.hp1
others(7): Show 
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG02055.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp1
HG02809.hp2
HG03471.hp1
NA18906.hp1
 intron_variant MODIFIER c.154+52670T>C
c.154+52670T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68380197
chrX:68380314 C
C
 G
G
 2 a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0105
a0001c0001t0006g0106
 2 HG02647.hp1
HG02886.hp2
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.154+52553G>C
c.154+52553G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68380314
chrX:68381379 C
C
 T
T
 3 a0001c0001t0002g0116
a0001c0001t0005g0110
a0001c0001t0008g0112
a0001c0001t0002g0116
a0001c0001t0005g0110
a0001c0001t0008g0112
 3 HG02818.hp2
HG03540.hp2
HG03579.hp1
HG02818.hp2
HG03540.hp2
HG03579.hp1
 intron_variant MODIFIER c.154+51488G>A
c.154+51488G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68381379
chrX:68381569 C
C
 T
T
 28 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(25): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0003g0113
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0029g0031
 28 HG00642.hp1
HG00735.hp2
HG01081.hp1
others(25): Show 
HG00642.hp1
HG00735.hp2
HG01081.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG02071.hp1
HG02132.hp1
HG02258.hp1
HG02451.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp2
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02818.hp1
HG02976.hp1
HG03209.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18944.hp1
NA18962.hp1
NA18966.hp1
 intron_variant MODIFIER c.154+51298G>A
c.154+51298G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68381569
chrX:68381573 C
C
 G
G
 2 a0001c0001t0001g0045
a0001c0001t0001g0078
a0001c0001t0001g0045
a0001c0001t0001g0078
 2 NA19085.hp1
NA19088.hp1
NA19085.hp1
NA19088.hp1
 intron_variant MODIFIER c.154+51294G>C
c.154+51294G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68381573
chrX:68381590 C
C
 T
T
 1 a0001c0001t0001g0078
a0001c0001t0001g0078
 1 NA19088.hp1
NA19088.hp1
 intron_variant MODIFIER c.154+51277G>A
c.154+51277G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68381590
chrX:68381818 CCTTT
CCTTT
 C
C
 2 a0001c0001t0008g0096
a0001c0001t0019g0003
a0001c0001t0008g0096
a0001c0001t0019g0003
 2 HG02257.hp1
HG02809.hp2
HG02257.hp1
HG02809.hp2
 intron_variant MODIFIER c.154+51045_154+5104
others(8): Show 
c.154+51045_154+51048delAAAG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68381818
chrX:68382012 C
C
 T
T
 67 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(64): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0029g0031
a0001c0001t0030g0155
 67 HG00280.hp1
HG00642.hp1
HG00735.hp2
others(64): Show 
HG00280.hp1
HG00642.hp1
HG00735.hp2
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18962.hp1
NA18966.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.154+50855G>A
c.154+50855G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68382012
chrX:68382199 C
C
 T
T
 67 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(64): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0029g0031
a0001c0001t0030g0155
 67 HG00280.hp1
HG00642.hp1
HG00735.hp2
others(64): Show 
HG00280.hp1
HG00642.hp1
HG00735.hp2
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18962.hp1
NA18966.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.154+50668G>A
c.154+50668G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68382199
chrX:68382220 A
A
 G
G
 68 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
others(65): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0029g0031
a0001c0001t0030g0155
 68 HG00280.hp1
HG00642.hp1
HG00735.hp2
others(65): Show 
HG00280.hp1
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18962.hp1
NA18966.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.154+50647T>C
c.154+50647T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68382220
chrX:68382314 T
T
 C
C
 1 a0001c0001t0020g0099
a0001c0001t0020g0099
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.154+50553A>G
c.154+50553A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68382314
chrX:68382350 A
A
 AAAAAT
AAAAAT
 1 a0001c0001t0019g0003
a0001c0001t0019g0003
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.154+50512_154+5051
others(9): Show 
c.154+50512_154+50516dupATTTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68382350
chrX:68382355 T
T
 A
A
 6 a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0003g0018
others(3): Show 
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0007g0022
a0001c0001t0007g0023
 6 HG02109.hp2
HG02257.hp2
HG02280.hp1
others(3): Show 
HG02109.hp2
HG02257.hp2
HG02280.hp1
HG02559.hp1
HG02809.hp1
NA19030.hp2
 intron_variant MODIFIER c.154+50512A>T
c.154+50512A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68382355
chrX:68382483 C
C
 T
T
 1 a0001c0001t0020g0099
a0001c0001t0020g0099
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.154+50384G>A
c.154+50384G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68382483
chrX:68382746 C
C
 T
T
 67 a0001c0001t0001g0008
a0001c0001t0001g0071
a0001c0001t0001g0077
others(64): Show 
a0001c0001t0001g0008
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0029g0031
a0001c0001t0030g0155
 67 HG00280.hp1
HG00642.hp1
HG00735.hp2
others(64): Show 
HG00280.hp1
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18962.hp1
NA18966.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.154+50121G>A
c.154+50121G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68382746
chrX:68383318 G
G
 A
A
 3 a0001c0001t0004g0004
a0001c0001t0008g0096
a0001c0001t0019g0003
a0001c0001t0004g0004
a0001c0001t0008g0096
a0001c0001t0019g0003
 3 HG02109.hp1
HG02257.hp1
HG02809.hp2
HG02109.hp1
HG02257.hp1
HG02809.hp2
 intron_variant MODIFIER c.154+49549C>T
c.154+49549C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68383318
chrX:68383378 G
G
 T
T
 1 a0001c0001t0001g0038
a0001c0001t0001g0038
 1 HG02602.hp1
HG02602.hp1
 intron_variant MODIFIER c.154+49489C>A
c.154+49489C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68383378
chrX:68383421 G
G
 A
A
 3 a0001c0001t0002g0019
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0002g0019
a0001c0001t0003g0018
a0001c0001t0003g0020
 3 HG02109.hp2
HG02280.hp1
HG02809.hp1
HG02109.hp2
HG02280.hp1
HG02809.hp1
 intron_variant MODIFIER c.154+49446C>T
c.154+49446C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68383421
chrX:68383547 C
C
 T
T
 6 a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
others(3): Show 
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0021g0150
 6 HG01081.hp2
HG01167.hp1
HG01169.hp1
others(3): Show 
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG02055.hp1
HG03471.hp1
NA18906.hp1
 intron_variant MODIFIER c.154+49320G>A
c.154+49320G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68383547
chrX:68383598 G
G
 GA
GA
 31 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0027
others(28): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0027
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0090
a0001c0001t0001g0093
a0001c0001t0001g0140
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0057
a0001c0001t0002g0115
a0001c0001t0002g0127
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0004g0005
a0001c0001t0004g0095
a0001c0001t0009g0129
a0001c0001t0013g0042
a0001c0001t0023g0037
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0029g0031
a0001c0003t0010g0089
 31 HG00621.hp1
HG00673.hp1
HG00735.hp1
others(28): Show 
HG00621.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG01192.hp1
HG01243.hp1
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG02074.hp1
HG02135.hp1
HG02145.hp1
HG02615.hp2
HG02738.hp1
HG03516.hp1
HG03540.hp1
HG03688.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
NA18943.hp1
NA18962.hp1
NA18966.hp1
NA18977.hp1
NA18994.hp1
NA19004.hp1
NA19007.hp1
NA19012.hp1
NA19066.hp1
NA19088.hp1
NA20905.hp1
 intron_variant MODIFIER c.154+49268dupT
c.154+49268dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68383598
chrX:68383598 G
G
 GAA
GAA
 2 a0001c0001t0001g0045
a0001c0001t0001g0077
a0001c0001t0001g0045
a0001c0001t0001g0077
 2 HG02071.hp1
NA19085.hp1
HG02071.hp1
NA19085.hp1
 intron_variant MODIFIER c.154+49267_154+4926
others(6): Show 
c.154+49267_154+49268dupTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68383598
chrX:68383598 GA
GA
 G
G
 33 a0001c0001t0001g0053
a0001c0001t0002g0014
a0001c0001t0002g0019
others(30): Show 
a0001c0001t0001g0053
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0105
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0112
a0001c0001t0018g0104
a0001c0001t0020g0099
a0001c0001t0030g0155
a0004c0005t0012g0024
 33 HG00280.hp1
HG00738.hp1
HG01081.hp2
others(30): Show 
HG00280.hp1
HG00738.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG02055.hp1
HG02109.hp1
HG02109.hp2
HG02257.hp2
HG02280.hp1
HG02486.hp1
HG02559.hp1
HG02615.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp1
NA18974.hp1
NA18983.hp1
NA18986.hp1
NA19030.hp1
NA19043.hp1
 intron_variant MODIFIER c.154+49268delT
c.154+49268delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68383598
chrX:68383598 GAA
GAA
 G
G
 2 a0001c0001t0002g0131
a0001c0001t0019g0003
a0001c0001t0002g0131
a0001c0001t0019g0003
 2 HG02809.hp2
HG02965.hp1
HG02809.hp2
HG02965.hp1
 intron_variant MODIFIER c.154+49267_154+4926
others(6): Show 
c.154+49267_154+49268delTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68383598
chrX:68383598 GAAAAAAA
GAAAAAAA
 G
G
 1 a0001c0001t0008g0096
a0001c0001t0008g0096
 1 HG02257.hp1
HG02257.hp1
 intron_variant MODIFIER c.154+49262_154+4926
others(11): Show 
c.154+49262_154+49268delTTTTTTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68383598
chrX:68383598 GAAAAAAA
others(5): Show 
GAAAAAAAAAAAA
 G
G
 1 a0001c0001t0022g0103
a0001c0001t0022g0103
 1 HG01081.hp1
HG01081.hp1
 intron_variant MODIFIER c.154+49257_154+4926
others(16): Show 
c.154+49257_154+49268delTTTTTTTTTTTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68383598
chrX:68383865 A
A
 G
G
 1 a0001c0001t0001g0040
a0001c0001t0001g0040
 1 NA18965.hp1
NA18965.hp1
 intron_variant MODIFIER c.154+49002T>C
c.154+49002T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68383865
chrX:68383939 G
G
 C
C
 68 a0001c0001t0001g0008
a0001c0001t0001g0071
a0001c0001t0001g0077
others(65): Show 
a0001c0001t0001g0008
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0029g0031
a0001c0001t0030g0155
 68 HG00280.hp1
HG00642.hp1
HG00735.hp2
others(65): Show 
HG00280.hp1
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG02055.hp1
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18962.hp1
NA18966.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.154+48928C>G
c.154+48928C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68383939
chrX:68384139 T
T
 C
C
 1 a0001c0001t0004g0004
a0001c0001t0004g0004
 1 HG02109.hp1
HG02109.hp1
 intron_variant MODIFIER c.154+48728A>G
c.154+48728A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68384139
chrX:68384289 C
C
 T
T
 68 a0001c0001t0001g0008
a0001c0001t0001g0071
a0001c0001t0001g0077
others(65): Show 
a0001c0001t0001g0008
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0029g0031
a0001c0001t0030g0155
 68 HG00280.hp1
HG00642.hp1
HG00735.hp2
others(65): Show 
HG00280.hp1
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG02055.hp1
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18962.hp1
NA18966.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.154+48578G>A
c.154+48578G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68384289
chrX:68384535 T
T
 C
C
 1 a0001c0001t0003g0035
a0001c0001t0003g0035
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.154+48332A>G
c.154+48332A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68384535
chrX:68384578 C
C
 T
T
 7 a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0003g0018
others(4): Show 
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0018g0104
 7 HG00280.hp1
HG02109.hp2
HG02257.hp2
others(4): Show 
HG00280.hp1
HG02109.hp2
HG02257.hp2
HG02280.hp1
HG02559.hp1
HG02809.hp1
NA19030.hp2
 intron_variant MODIFIER c.154+48289G>A
c.154+48289G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68384578
chrX:68384721 C
C
 CA
CA
 8 a0001c0001t0001g0025
a0001c0001t0001g0064
a0001c0001t0002g0115
others(5): Show 
a0001c0001t0001g0025
a0001c0001t0001g0064
a0001c0001t0002g0115
a0001c0001t0003g0113
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
 8 HG00735.hp2
HG01515.hp1
HG02145.hp1
others(5): Show 
HG00735.hp2
HG01515.hp1
HG02145.hp1
HG02300.hp1
HG02723.hp2
HG03209.hp1
HG03516.hp1
NA18522.hp1
 intron_variant MODIFIER c.154+48145dupT
c.154+48145dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68384721
chrX:68384721 CA
CA
 C
C
 3 a0001c0001t0001g0053
a0001c0001t0001g0080
a0001c0001t0001g0098
a0001c0001t0001g0053
a0001c0001t0001g0080
a0001c0001t0001g0098
 3 HG03017.hp1
NA18955.hp1
NA18974.hp1
HG03017.hp1
NA18955.hp1
NA18974.hp1
 intron_variant MODIFIER c.154+48145delT
c.154+48145delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68384721
chrX:68384734 AG
AG
 A
A
 4 a0001c0001t0001g0071
a0001c0001t0005g0110
a0001c0001t0009g0128
others(1): Show 
a0001c0001t0001g0071
a0001c0001t0005g0110
a0001c0001t0009g0128
a0001c0001t0015g0148
 4 HG00642.hp1
HG01943.hp1
HG02451.hp1
others(1): Show 
HG00642.hp1
HG01943.hp1
HG02451.hp1
HG03540.hp2
 intron_variant MODIFIER c.154+48132delC
c.154+48132delC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68384734
chrX:68384735 G
G
 A
A
 63 a0001c0001t0001g0008
a0001c0001t0001g0077
a0001c0001t0001g0140
others(60): Show 
a0001c0001t0001g0008
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0129
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0029g0031
a0001c0001t0030g0155
 63 HG00280.hp1
HG00735.hp2
HG01081.hp1
others(60): Show 
HG00280.hp1
HG00735.hp2
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18962.hp1
NA18966.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.154+48132C>T
c.154+48132C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68384735
chrX:68385067 T
T
 A
A
 4 a0001c0001t0002g0115
a0001c0001t0004g0004
a0001c0001t0008g0096
others(1): Show 
a0001c0001t0002g0115
a0001c0001t0004g0004
a0001c0001t0008g0096
a0001c0001t0019g0003
 4 HG02109.hp1
HG02145.hp1
HG02257.hp1
others(1): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp1
HG02809.hp2
 intron_variant MODIFIER c.154+47800A>T
c.154+47800A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68385067
chrX:68385092 T
T
 C
C
 1 a0001c0001t0002g0125
a0001c0001t0002g0125
 1 HG01255.hp1
HG01255.hp1
 intron_variant MODIFIER c.154+47775A>G
c.154+47775A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68385092
chrX:68386236 A
A
 G
G
 1 a0001c0001t0001g0046
a0001c0001t0001g0046
 1 HG01928.hp1
HG01928.hp1
 intron_variant MODIFIER c.154+46631T>C
c.154+46631T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68386236
chrX:68386277 C
C
 A
A
 68 a0001c0001t0001g0008
a0001c0001t0001g0071
a0001c0001t0001g0077
others(65): Show 
a0001c0001t0001g0008
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0027g0072
a0001c0001t0029g0031
a0001c0001t0030g0155
 68 HG00099.hp1
HG00642.hp1
HG00735.hp2
others(65): Show 
HG00099.hp1
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG02055.hp1
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18962.hp1
NA18966.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.154+46590G>T
c.154+46590G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68386277
chrX:68386425 T
T
 C
C
 63 a0001c0001t0001g0008
a0001c0001t0001g0071
a0001c0001t0001g0077
others(60): Show 
a0001c0001t0001g0008
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0027g0072
a0001c0001t0029g0031
a0001c0001t0030g0155
 63 HG00099.hp1
HG00642.hp1
HG00735.hp2
others(60): Show 
HG00099.hp1
HG00642.hp1
HG00735.hp2
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG02055.hp1
HG02071.hp1
HG02109.hp2
HG02132.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18962.hp1
NA18966.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.154+46442A>G
c.154+46442A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68386425
chrX:68386455 T
T
 TA
TA
 1 a0001c0001t0002g0124
a0001c0001t0002g0124
 1 NA18612.hp1
NA18612.hp1
 intron_variant MODIFIER c.154+46411dupT
c.154+46411dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68386455
chrX:68386889 A
A
 G
G
 61 a0001c0001t0001g0008
a0001c0001t0001g0071
a0001c0001t0001g0077
others(58): Show 
a0001c0001t0001g0008
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0005
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0029g0031
a0001c0001t0030g0155
 61 HG00642.hp1
HG00735.hp2
HG00738.hp1
others(58): Show 
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG02055.hp1
HG02071.hp1
HG02109.hp2
HG02132.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18962.hp1
NA18966.hp1
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.154+45978T>C
c.154+45978T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68386889
chrX:68386909 G
G
 C
C
 1 a0001c0001t0005g0137
a0001c0001t0005g0137
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.154+45958C>G
c.154+45958C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68386909
chrX:68387033 CT
CT
 C
C
 65 a0001c0001t0001g0008
a0001c0001t0001g0071
a0001c0001t0001g0077
others(62): Show 
a0001c0001t0001g0008
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0015g0148
a0001c0001t0016g0119
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0029g0031
a0001c0001t0030g0155
 65 HG00642.hp1
HG00735.hp2
HG00738.hp1
others(62): Show 
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp1
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG02055.hp1
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG04115.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18962.hp1
NA18966.hp1
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.154+45833delA
c.154+45833delA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68387033
chrX:68387200 T
T
 TTC
TTC
 2 a0001c0001t0003g0122
a0001c0001t0007g0032
a0001c0001t0003g0122
a0001c0001t0007g0032
 2 HG03130.hp1
NA19043.hp1
HG03130.hp1
NA19043.hp1
 intron_variant MODIFIER c.154+45665_154+4566
others(6): Show 
c.154+45665_154+45666dupGA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68387200
chrX:68387200 T
T
 TTCTC
TTCTC
 34 a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
others(31): Show 
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0004
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0030g0155
 34 HG00738.hp1
HG01081.hp2
HG01167.hp1
others(31): Show 
HG00738.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01891.hp1
HG02055.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03471.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp1
NA18906.hp2
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.154+45663_154+4566
others(8): Show 
c.154+45663_154+45666dupGAGA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68387200
chrX:68387200 T
T
 TTCTCTC
TTCTCTC
 76 a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
others(73): Show 
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0123
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0004g0117
a0001c0001t0006g0013
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 76 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(73): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00673.hp1
HG00735.hp1
HG01069.hp1
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02074.hp1
HG02083.hp1
HG02129.hp1
HG02300.hp1
HG02602.hp1
HG02615.hp2
HG02630.hp1
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG03017.hp1
HG03492.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18977.hp1
NA18982.hp1
NA18988.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.154+45661_154+4566
others(10): Show 
c.154+45661_154+45666dupGAGAGA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68387200
chrX:68387200 T
T
 TTCTCTCT
others(1): Show 
TTCTCTCTC
 10 a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0066
others(7): Show 
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0066
a0001c0001t0001g0069
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0003c0004t0014g0102
 10 HG00140.hp1
HG02135.hp1
HG02280.hp2
others(7): Show 
HG00140.hp1
HG02135.hp1
HG02280.hp2
HG02451.hp2
HG02886.hp1
HG02922.hp2
NA18974.hp1
NA18983.hp1
NA18986.hp1
NA18990.hp1
 intron_variant MODIFIER c.154+45659_154+4566
others(12): Show 
c.154+45659_154+45666dupGAGAGAGA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68387200
chrX:68387200 TTC
TTC
 T
T
 2 a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0105
a0001c0001t0006g0106
 2 HG02647.hp1
HG02886.hp2
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.154+45665_154+4566
others(6): Show 
c.154+45665_154+45666delGA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68387200
chrX:68387353 T
T
 C
C
 2 a0001c0001t0003g0122
a0001c0001t0007g0032
a0001c0001t0003g0122
a0001c0001t0007g0032
 2 HG03130.hp1
NA19043.hp1
HG03130.hp1
NA19043.hp1
 intron_variant MODIFIER c.154+45514A>G
c.154+45514A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68387353
chrX:68387629 C
C
 T
T
 1 a0001c0001t0027g0072
a0001c0001t0027g0072
 1 HG00099.hp1
HG00099.hp1
 intron_variant MODIFIER c.154+45238G>A
c.154+45238G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68387629
chrX:68387913 T
T
 A
A
 1 a0001c0001t0026g0056
a0001c0001t0026g0056
 1 NA20905.hp1
NA20905.hp1
 intron_variant MODIFIER c.154+44954A>T
c.154+44954A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68387913
chrX:68388155 C
C
 A
A
 1 a0001c0001t0030g0155
a0001c0001t0030g0155
 1 HG02895.hp1
HG02895.hp1
 intron_variant MODIFIER c.154+44712G>T
c.154+44712G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68388155
chrX:68388212 C
C
 A
A
 1 a0002c0002t0001g0002
a0002c0002t0001g0002
 1 HG01358.hp1
HG01358.hp1
 intron_variant MODIFIER c.154+44655G>T
c.154+44655G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68388212
chrX:68388450 A
A
 G
G
 3 a0001c0001t0004g0004
a0001c0001t0008g0096
a0001c0001t0019g0003
a0001c0001t0004g0004
a0001c0001t0008g0096
a0001c0001t0019g0003
 3 HG02109.hp1
HG02257.hp1
HG02809.hp2
HG02109.hp1
HG02257.hp1
HG02809.hp2
 intron_variant MODIFIER c.154+44417T>C
c.154+44417T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68388450
chrX:68388459 C
C
 CA
CA
 1 a0001c0001t0001g0090
a0001c0001t0001g0090
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.154+44407dupT
c.154+44407dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68388459
chrX:68388459 CA
CA
 C
C
 7 a0001c0001t0001g0053
a0001c0001t0003g0091
a0001c0001t0003g0122
others(4): Show 
a0001c0001t0001g0053
a0001c0001t0003g0091
a0001c0001t0003g0122
a0001c0001t0007g0032
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
 7 HG00099.hp2
HG02735.hp1
HG03130.hp1
others(4): Show 
HG00099.hp2
HG02735.hp1
HG03130.hp1
HG03688.hp1
NA18962.hp1
NA18974.hp1
NA19043.hp1
 intron_variant MODIFIER c.154+44407delT
c.154+44407delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68388459
chrX:68388568 G
G
 T
T
 1 a0001c0001t0004g0034
a0001c0001t0004g0034
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.154+44299C>A
c.154+44299C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68388568
chrX:68388587 T
T
 A
A
 2 a0001c0001t0003g0122
a0001c0001t0007g0032
a0001c0001t0003g0122
a0001c0001t0007g0032
 2 HG03130.hp1
NA19043.hp1
HG03130.hp1
NA19043.hp1
 intron_variant MODIFIER c.154+44280A>T
c.154+44280A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68388587
chrX:68388742 A
A
 T
T
 1 a0001c0001t0023g0037
a0001c0001t0023g0037
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.154+44125T>A
c.154+44125T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68388742
chrX:68388960 A
A
 AT
AT
 4 a0001c0001t0002g0115
a0001c0001t0002g0133
a0001c0001t0007g0032
others(1): Show 
a0001c0001t0002g0115
a0001c0001t0002g0133
a0001c0001t0007g0032
a0001c0001t0007g0033
 4 HG01891.hp1
HG02145.hp1
HG03130.hp1
others(1): Show 
HG01891.hp1
HG02145.hp1
HG03130.hp1
NA19030.hp1
 intron_variant MODIFIER c.154+43906dupA
c.154+43906dupA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68388960
chrX:68388960 AT
AT
 A
A
 14 a0001c0001t0002g0116
a0001c0001t0002g0135
a0001c0001t0003g0111
others(11): Show 
a0001c0001t0002g0116
a0001c0001t0002g0135
a0001c0001t0003g0111
a0001c0001t0004g0005
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0005g0110
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0008g0112
a0001c0001t0011g0061
a0001c0001t0016g0119
a0001c0001t0021g0150
 14 HG00735.hp2
HG01081.hp2
HG01167.hp1
others(11): Show 
HG00735.hp2
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG02055.hp1
HG02683.hp1
HG02818.hp2
HG02976.hp2
HG03471.hp1
HG03540.hp2
HG03579.hp1
NA18906.hp1
NA18906.hp2
NA18982.hp1
 intron_variant MODIFIER c.154+43906delA
c.154+43906delA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68388960
chrX:68389121 A
A
 AT
AT
 89 a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
others(86): Show 
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0123
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0004g0004
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0006g0013
a0001c0001t0008g0096
a0001c0001t0013g0042
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0021g0150
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
 89 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(86): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00673.hp1
HG00735.hp1
HG01069.hp1
HG01099.hp1
HG01106.hp1
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01934.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp1
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02886.hp1
HG02922.hp2
HG03017.hp1
HG03471.hp1
HG03492.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.154+43745dupA
c.154+43745dupA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68389121
chrX:68389459 CG
CG
 C
C
 1 a0001c0001t0029g0031
a0001c0001t0029g0031
 1 NA18962.hp1
NA18962.hp1
 intron_variant MODIFIER c.154+43407delC
c.154+43407delC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68389459
chrX:68389482 G
G
 A
A
 1 a0001c0001t0007g0022
a0001c0001t0007g0022
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.154+43385C>T
c.154+43385C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68389482
chrX:68389542 G
G
 A
A
 1 a0001c0001t0001g0038
a0001c0001t0001g0038
 1 HG02602.hp1
HG02602.hp1
 intron_variant MODIFIER c.154+43325C>T
c.154+43325C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68389542
chrX:68389549 A
A
 T
T
 2 a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0105
a0001c0001t0006g0106
 2 HG02647.hp1
HG02886.hp2
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.154+43318T>A
c.154+43318T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68389549
chrX:68389568 A
A
 AAAAT
AAAAT
 18 a0001c0001t0002g0021
a0001c0001t0002g0116
a0001c0001t0002g0126
others(15): Show 
a0001c0001t0002g0021
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0003g0020
a0001c0001t0003g0109
a0001c0001t0004g0005
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0016g0119
a0001c0001t0020g0099
a0001c0001t0030g0155
 18 HG00735.hp2
HG00738.hp1
HG01891.hp1
others(15): Show 
HG00735.hp2
HG00738.hp1
HG01891.hp1
HG02257.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02809.hp1
HG02886.hp2
HG02895.hp1
HG03225.hp1
HG03579.hp1
NA18906.hp2
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.154+43295_154+4329
others(8): Show 
c.154+43295_154+43298dupATTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68389568
chrX:68389568 A
A
 AAAATAAA
others(1): Show 
AAAATAAAT
 18 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(15): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0003g0139
a0001c0001t0004g0004
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0019g0003
 18 HG02109.hp1
HG02257.hp1
HG02258.hp1
others(15): Show 
HG02109.hp1
HG02257.hp1
HG02258.hp1
HG02451.hp1
HG02572.hp1
HG02717.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
 intron_variant MODIFIER c.154+43291_154+4329
others(12): Show 
c.154+43291_154+43298dupATTTATTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68389568
chrX:68389568 A
A
 AAAATAAA
others(5): Show 
AAAATAAATAAAT
 1 a0001c0001t0002g0125
a0001c0001t0002g0125
 1 HG01255.hp1
HG01255.hp1
 intron_variant MODIFIER c.154+43287_154+4329
others(16): Show 
c.154+43287_154+43298dupATTTATTTATTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68389568
chrX:68389568 AAAAT
AAAAT
 A
A
 85 a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
others(82): Show 
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0123
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0006g0013
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 85 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(82): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00621.hp1
HG00673.hp1
HG00735.hp1
HG01069.hp1
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01934.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp1
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02922.hp2
HG03017.hp1
HG03492.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.154+43295_154+4329
others(8): Show 
c.154+43295_154+43298delATTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68389568
chrX:68389657 T
T
 TA
TA
 1 a0001c0001t0006g0105
a0001c0001t0006g0105
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.154+43209dupT
c.154+43209dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68389657
chrX:68389657 T
T
 TAA
TAA
 9 a0001c0001t0001g0027
a0001c0001t0001g0060
a0001c0001t0003g0101
others(6): Show 
a0001c0001t0001g0027
a0001c0001t0001g0060
a0001c0001t0003g0101
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0006g0013
a0001c0001t0027g0072
a0003c0004t0014g0102
 9 HG00099.hp1
HG02015.hp1
HG02280.hp2
others(6): Show 
HG00099.hp1
HG02015.hp1
HG02280.hp2
HG02451.hp2
HG02630.hp1
HG02723.hp1
HG02886.hp1
HG02922.hp2
NA18994.hp1
 intron_variant MODIFIER c.154+43208_154+4320
others(6): Show 
c.154+43208_154+43209dupTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68389657
chrX:68389657 T
T
 TAAA
TAAA
 74 a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
others(71): Show 
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0123
a0001c0001t0003g0035
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0028g0084
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 74 HG00099.hp2
HG00140.hp1
HG00280.hp1
others(71): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00673.hp1
HG00735.hp1
HG01069.hp1
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01934.hp1
HG01952.hp1
HG02027.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02129.hp1
HG02300.hp1
HG02602.hp1
HG02615.hp2
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG03017.hp1
HG03492.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04228.hp1
NA18747.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.154+43207_154+4320
others(7): Show 
c.154+43207_154+43209dupTTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68389657
chrX:68389657 T
T
 TAAAA
TAAAA
 3 a0001c0001t0001g0009
a0001c0001t0001g0052
a0001c0001t0003g0063
a0001c0001t0001g0009
a0001c0001t0001g0052
a0001c0001t0003g0063
 3 HG02135.hp1
HG04199.hp1
NA18995.hp1
HG02135.hp1
HG04199.hp1
NA18995.hp1
 intron_variant MODIFIER c.154+43206_154+4320
others(8): Show 
c.154+43206_154+43209dupTTTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68389657
chrX:68390179 T
T
 C
C
 1 a0001c0001t0003g0035
a0001c0001t0003g0035
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.154+42688A>G
c.154+42688A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68390179
chrX:68390575 G
G
 A
A
 2 a0001c0001t0003g0122
a0001c0001t0007g0032
a0001c0001t0003g0122
a0001c0001t0007g0032
 2 HG03130.hp1
NA19043.hp1
HG03130.hp1
NA19043.hp1
 intron_variant MODIFIER c.154+42292C>T
c.154+42292C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68390575
chrX:68390580 CA
CA
 C
C
 2 a0001c0001t0003g0122
a0001c0001t0007g0032
a0001c0001t0003g0122
a0001c0001t0007g0032
 2 HG03130.hp1
NA19043.hp1
HG03130.hp1
NA19043.hp1
 intron_variant MODIFIER c.154+42286delT
c.154+42286delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68390580
chrX:68390632 T
T
 G
G
 1 a0001c0001t0003g0113
a0001c0001t0003g0113
 1 HG02723.hp2
HG02723.hp2
 intron_variant MODIFIER c.154+42235A>C
c.154+42235A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68390632
chrX:68390903 A
A
 G
G
 1 a0001c0001t0001g0027
a0001c0001t0001g0027
 1 NA18994.hp1
NA18994.hp1
 intron_variant MODIFIER c.154+41964T>C
c.154+41964T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68390903
chrX:68391012 T
T
 TC
TC
 2 a0001c0001t0003g0122
a0001c0001t0007g0032
a0001c0001t0003g0122
a0001c0001t0007g0032
 2 HG03130.hp1
NA19043.hp1
HG03130.hp1
NA19043.hp1
 intron_variant MODIFIER c.154+41854dupG
c.154+41854dupG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68391012
chrX:68391375 T
T
 C
C
 1 a0001c0001t0001g0090
a0001c0001t0001g0090
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.154+41492A>G
c.154+41492A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68391375
chrX:68391754 A
A
 G
G
 1 a0001c0001t0017g0036
a0001c0001t0017g0036
 1 HG01952.hp1
HG01952.hp1
 intron_variant MODIFIER c.154+41113T>C
c.154+41113T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68391754
chrX:68391886 C
C
 T
T
 1 a0001c0001t0003g0122
a0001c0001t0003g0122
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.154+40981G>A
c.154+40981G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68391886
chrX:68391913 C
C
 T
T
 1 a0001c0001t0003g0100
a0001c0001t0003g0100
 1 HG01106.hp1
HG01106.hp1
 intron_variant MODIFIER c.154+40954G>A
c.154+40954G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68391913
chrX:68392038 C
C
 A
A
 1 a0001c0001t0002g0006
a0001c0001t0002g0006
 1 HG02074.hp1
HG02074.hp1
 intron_variant MODIFIER c.154+40829G>T
c.154+40829G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68392038
chrX:68392520 A
A
 G
G
 2 a0001c0001t0003g0122
a0001c0001t0007g0032
a0001c0001t0003g0122
a0001c0001t0007g0032
 2 HG03130.hp1
NA19043.hp1
HG03130.hp1
NA19043.hp1
 intron_variant MODIFIER c.154+40347T>C
c.154+40347T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68392520
chrX:68392574 G
G
 A
A
 15 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(12): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0008g0112
a0001c0001t0030g0155
 15 HG01891.hp2
HG02486.hp1
HG02572.hp1
others(12): Show 
HG01891.hp2
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.154+40293C>T
c.154+40293C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68392574
chrX:68392790 A
A
 C
C
 2 a0001c0001t0003g0122
a0001c0001t0007g0032
a0001c0001t0003g0122
a0001c0001t0007g0032
 2 HG03130.hp1
NA19043.hp1
HG03130.hp1
NA19043.hp1
 intron_variant MODIFIER c.154+40077T>G
c.154+40077T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68392790
chrX:68392801 T
T
 G
G
 2 a0001c0001t0003g0122
a0001c0001t0007g0032
a0001c0001t0003g0122
a0001c0001t0007g0032
 2 HG03130.hp1
NA19043.hp1
HG03130.hp1
NA19043.hp1
 intron_variant MODIFIER c.154+40066A>C
c.154+40066A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68392801
chrX:68392842 C
C
 T
T
 2 a0001c0001t0003g0122
a0001c0001t0007g0032
a0001c0001t0003g0122
a0001c0001t0007g0032
 2 HG03130.hp1
NA19043.hp1
HG03130.hp1
NA19043.hp1
 intron_variant MODIFIER c.154+40025G>A
c.154+40025G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68392842
chrX:68392894 G
G
 A
A
 86 a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
others(83): Show 
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0123
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0006g0013
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 86 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(83): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00673.hp1
HG00735.hp1
HG01069.hp1
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01934.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp1
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02922.hp2
HG03017.hp1
HG03492.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.154+39973C>T
c.154+39973C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68392894
chrX:68392897 A
A
 G
G
 1 a0001c0001t0003g0122
a0001c0001t0003g0122
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.154+39970T>C
c.154+39970T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68392897
chrX:68393091 A
A
 T
T
 86 a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
others(83): Show 
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0123
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0006g0013
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 86 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(83): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00673.hp1
HG00735.hp1
HG01069.hp1
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01934.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp1
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02922.hp2
HG03017.hp1
HG03492.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.154+39776T>A
c.154+39776T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68393091
chrX:68393117 G
G
 T
T
 1 a0001c0001t0020g0099
a0001c0001t0020g0099
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.154+39750C>A
c.154+39750C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68393117
chrX:68393133 G
G
 C
C
 2 a0001c0001t0003g0122
a0001c0001t0007g0032
a0001c0001t0003g0122
a0001c0001t0007g0032
 2 HG03130.hp1
NA19043.hp1
HG03130.hp1
NA19043.hp1
 intron_variant MODIFIER c.154+39734C>G
c.154+39734C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68393133
chrX:68393173 C
C
 T
T
 4 a0001c0001t0002g0115
a0001c0001t0004g0004
a0001c0001t0008g0096
others(1): Show 
a0001c0001t0002g0115
a0001c0001t0004g0004
a0001c0001t0008g0096
a0001c0001t0019g0003
 4 HG02109.hp1
HG02145.hp1
HG02257.hp1
others(1): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp1
HG02809.hp2
 intron_variant MODIFIER c.154+39694G>A
c.154+39694G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68393173
chrX:68393424 G
G
 A
A
 1 a0001c0001t0001g0077
a0001c0001t0001g0077
 1 HG02071.hp1
HG02071.hp1
 intron_variant MODIFIER c.154+39443C>T
c.154+39443C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68393424
chrX:68393634 C
C
 T
T
 6 a0001c0001t0003g0101
a0001c0001t0004g0010
a0001c0001t0004g0011
others(3): Show 
a0001c0001t0003g0101
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0006g0013
a0003c0004t0014g0102
 6 HG02280.hp2
HG02451.hp2
HG02630.hp1
others(3): Show 
HG02280.hp2
HG02451.hp2
HG02630.hp1
HG02723.hp1
HG02886.hp1
HG02922.hp2
 intron_variant MODIFIER c.154+39233G>A
c.154+39233G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68393634
chrX:68393885 G
G
 GT
GT
 12 a0001c0001t0002g0021
a0001c0001t0002g0125
a0001c0001t0002g0127
others(9): Show 
a0001c0001t0002g0021
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0134
a0001c0001t0003g0018
a0001c0001t0004g0095
a0001c0001t0005g0137
a0001c0001t0005g0152
a0001c0001t0009g0129
a0001c0001t0021g0150
a0001c0001t0023g0037
a0001c0001t0029g0031
 12 HG01243.hp1
HG01255.hp1
HG02257.hp2
others(9): Show 
HG01243.hp1
HG01255.hp1
HG02257.hp2
HG02280.hp1
HG02559.hp2
HG02630.hp2
HG02818.hp1
HG03471.hp1
HG03516.hp1
HG03540.hp1
HG04115.hp1
NA18962.hp1
 intron_variant MODIFIER c.154+38981dupA
c.154+38981dupA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68393885
chrX:68393885 G
G
 GTT
GTT
 3 a0001c0001t0004g0004
a0001c0001t0008g0096
a0001c0001t0019g0003
a0001c0001t0004g0004
a0001c0001t0008g0096
a0001c0001t0019g0003
 3 HG02109.hp1
HG02257.hp1
HG02809.hp2
HG02109.hp1
HG02257.hp1
HG02809.hp2
 intron_variant MODIFIER c.154+38980_154+3898
others(6): Show 
c.154+38980_154+38981dupAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68393885
chrX:68393885 G
G
 GTTT
GTTT
 1 a0001c0001t0002g0115
a0001c0001t0002g0115
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.154+38979_154+3898
others(7): Show 
c.154+38979_154+38981dupAAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68393885
chrX:68393885 G
G
 GTTTT
GTTTT
 2 a0001c0001t0001g0025
a0001c0001t0001g0058
a0001c0001t0001g0025
a0001c0001t0001g0058
 2 HG01515.hp1
HG02129.hp1
HG01515.hp1
HG02129.hp1
 intron_variant MODIFIER c.154+38978_154+3898
others(8): Show 
c.154+38978_154+38981dupAAAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68393885
chrX:68393885 G
G
 GTTTTT
GTTTTT
 26 a0001c0001t0001g0027
a0001c0001t0001g0040
a0001c0001t0001g0041
others(23): Show 
a0001c0001t0001g0027
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0050
a0001c0001t0001g0053
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0088
a0001c0001t0001g0093
a0001c0001t0001g0153
a0001c0001t0002g0083
a0001c0001t0003g0091
a0001c0001t0003g0101
a0001c0001t0006g0013
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0017g0036
a0001c0001t0028g0084
a0001c0003t0010g0085
a0002c0002t0003g0001
a0003c0004t0014g0102
 26 HG00099.hp2
HG00140.hp1
HG00609.hp1
others(23): Show 
HG00099.hp2
HG00140.hp1
HG00609.hp1
HG00735.hp1
HG01346.hp2
HG01952.hp1
HG02056.hp1
HG02630.hp1
HG02723.hp1
HG02735.hp1
HG02886.hp1
HG03017.hp1
HG03710.hp1
HG04228.hp1
NA18948.hp1
NA18952.hp1
NA18965.hp1
NA18974.hp1
NA18982.hp1
NA18994.hp1
NA19007.hp1
NA19068.hp1
NA19070.hp1
NA19088.hp1
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.154+38977_154+3898
others(9): Show 
c.154+38977_154+38981dupAAAAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68393885
chrX:68393885 G
G
 GTTTTTT
GTTTTTT
 44 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0028
others(41): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0049
a0001c0001t0001g0052
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0086
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0147
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0123
a0001c0001t0003g0035
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0100
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0003t0010g0089
a0004c0005t0012g0024
 44 HG00280.hp1
HG00673.hp1
HG01069.hp1
others(41): Show 
HG00280.hp1
HG00673.hp1
HG01069.hp1
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01433.hp1
HG01934.hp1
HG02027.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02135.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02602.hp1
HG02683.hp1
HG02698.hp1
HG02922.hp2
HG03492.hp1
HG03688.hp1
HG03942.hp1
NA18747.hp1
NA18943.hp1
NA18945.hp1
NA18955.hp1
NA18960.hp1
NA18970.hp1
NA18971.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA19000.hp1
NA19005.hp1
NA19009.hp1
NA19012.hp1
NA19060.hp1
NA19066.hp1
NA19085.hp1
NA20905.hp1
 intron_variant MODIFIER c.154+38976_154+3898
others(10): Show 
c.154+38976_154+38981dupAAAAAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68393885
chrX:68393885 G
G
 GTTTTTTT
GTTTTTTT
 12 a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0046
others(9): Show 
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0070
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0003g0065
a0002c0002t0001g0002
 12 HG00621.hp1
HG01258.hp1
HG01261.hp1
others(9): Show 
HG00621.hp1
HG01258.hp1
HG01261.hp1
HG01358.hp1
HG01928.hp1
HG02015.hp1
HG02615.hp2
HG02738.hp1
NA18977.hp1
NA18995.hp1
NA19004.hp1
NA19056.hp1
 intron_variant MODIFIER c.154+38975_154+3898
others(11): Show 
c.154+38975_154+38981dupAAAAAAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68393885
chrX:68393885 G
G
 GTTTTTTT
others(2): Show 
GTTTTTTTTT
 3 a0001c0001t0001g0149
a0001c0001t0003g0063
a0001c0001t0027g0072
a0001c0001t0001g0149
a0001c0001t0003g0063
a0001c0001t0027g0072
 3 HG00099.hp1
HG04199.hp1
NA20805.hp1
HG00099.hp1
HG04199.hp1
NA20805.hp1
 intron_variant MODIFIER c.154+38973_154+3898
others(13): Show 
c.154+38973_154+38981dupAAAAAAAAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68393885
chrX:68393885 G
G
 GTTTTTTT
others(8): Show 
GTTTTTTTTTTTTTTT
 1 a0001c0001t0007g0032
a0001c0001t0007g0032
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.154+38967_154+3898
others(19): Show 
c.154+38967_154+38981dupAAAAAAAAAAAAAAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68393885
chrX:68393885 G
G
 GTTTTTTT
others(14): Show 
GTTTTTTTTTTTTTTTTTTTTT
 1 a0001c0001t0003g0122
a0001c0001t0003g0122
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.154+38961_154+3898
others(25): Show 
c.154+38961_154+38981dupAAAAAAAAAAAAAAAAAAAAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68393885
chrX:68393885 GT
GT
 G
G
 14 a0001c0001t0002g0014
a0001c0001t0002g0116
a0001c0001t0002g0126
others(11): Show 
a0001c0001t0002g0014
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0003g0109
a0001c0001t0003g0118
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
 14 HG01081.hp2
HG01167.hp1
HG01169.hp1
others(11): Show 
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01891.hp2
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02647.hp1
HG02886.hp2
HG03098.hp1
HG03225.hp1
HG03540.hp2
HG03579.hp1
NA18906.hp1
 intron_variant MODIFIER c.154+38981delA
c.154+38981delA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68393885
chrX:68393885 GTT
GTT
 G
G
 6 a0001c0001t0002g0108
a0001c0001t0002g0130
a0001c0001t0002g0135
others(3): Show 
a0001c0001t0002g0108
a0001c0001t0002g0130
a0001c0001t0002g0135
a0001c0001t0003g0111
a0001c0001t0008g0112
a0001c0001t0030g0155
 6 HG02818.hp2
HG02895.hp1
HG02976.hp2
others(3): Show 
HG02818.hp2
HG02895.hp1
HG02976.hp2
HG03139.hp1
HG03516.hp2
NA18906.hp2
 intron_variant MODIFIER c.154+38980_154+3898
others(6): Show 
c.154+38980_154+38981delAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68393885
chrX:68393885 GTTT
GTTT
 G
G
 2 a0001c0001t0002g0114
a0001c0001t0002g0131
a0001c0001t0002g0114
a0001c0001t0002g0131
 2 HG02922.hp1
HG02965.hp1
HG02922.hp1
HG02965.hp1
 intron_variant MODIFIER c.154+38979_154+3898
others(7): Show 
c.154+38979_154+38981delAAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68393885
chrX:68393919 G
G
 A
A
 2 a0001c0001t0003g0122
a0001c0001t0007g0032
a0001c0001t0003g0122
a0001c0001t0007g0032
 2 HG03130.hp1
NA19043.hp1
HG03130.hp1
NA19043.hp1
 intron_variant MODIFIER c.154+38948C>T
c.154+38948C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68393919
chrX:68393959 G
G
 A
A
 2 a0001c0001t0003g0122
a0001c0001t0007g0032
a0001c0001t0003g0122
a0001c0001t0007g0032
 2 HG03130.hp1
NA19043.hp1
HG03130.hp1
NA19043.hp1
 intron_variant MODIFIER c.154+38908C>T
c.154+38908C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68393959
chrX:68394005 C
C
 T
T
 4 a0001c0001t0002g0115
a0001c0001t0004g0004
a0001c0001t0008g0096
others(1): Show 
a0001c0001t0002g0115
a0001c0001t0004g0004
a0001c0001t0008g0096
a0001c0001t0019g0003
 4 HG02109.hp1
HG02145.hp1
HG02257.hp1
others(1): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp1
HG02809.hp2
 intron_variant MODIFIER c.154+38862G>A
c.154+38862G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68394005
chrX:68394047 T
T
 C
C
 1 a0001c0001t0003g0113
a0001c0001t0003g0113
 1 HG02723.hp2
HG02723.hp2
 intron_variant MODIFIER c.154+38820A>G
c.154+38820A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68394047
chrX:68394050 C
C
 T
T
 1 a0001c0001t0003g0113
a0001c0001t0003g0113
 1 HG02723.hp2
HG02723.hp2
 intron_variant MODIFIER c.154+38817G>A
c.154+38817G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68394050
chrX:68394053 G
G
 C
C
 1 a0001c0001t0001g0070
a0001c0001t0001g0070
 1 NA19056.hp1
NA19056.hp1
 intron_variant MODIFIER c.154+38814C>G
c.154+38814C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68394053
chrX:68394102 C
C
 A
A
 89 a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
others(86): Show 
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0123
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0122
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0006g0013
a0001c0001t0007g0032
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 89 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(86): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00673.hp1
HG00735.hp1
HG01069.hp1
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01934.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02922.hp2
HG03017.hp1
HG03130.hp1
HG03492.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.154+38765G>T
c.154+38765G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68394102
chrX:68394253 C
C
 T
T
 89 a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
others(86): Show 
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0123
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0122
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0006g0013
a0001c0001t0007g0032
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 89 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(86): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00673.hp1
HG00735.hp1
HG01069.hp1
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01934.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02922.hp2
HG03017.hp1
HG03130.hp1
HG03492.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.154+38614G>A
c.154+38614G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68394253
chrX:68394795 C
C
 T
T
 3 a0001c0001t0002g0021
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0002g0021
a0001c0001t0007g0022
a0001c0001t0007g0023
 3 HG02257.hp2
HG02559.hp1
NA19030.hp2
HG02257.hp2
HG02559.hp1
NA19030.hp2
 intron_variant MODIFIER c.154+38072G>A
c.154+38072G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68394795
chrX:68394836 G
G
 A
A
 1 a0001c0001t0002g0057
a0001c0001t0002g0057
 1 NA19012.hp1
NA19012.hp1
 intron_variant MODIFIER c.154+38031C>T
c.154+38031C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68394836
chrX:68394962 T
T
 A
A
 80 a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
others(77): Show 
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0123
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0028g0084
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 80 HG00099.hp2
HG00140.hp1
HG00280.hp1
others(77): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00673.hp1
HG00735.hp1
HG01069.hp1
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01934.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02300.hp1
HG02602.hp1
HG02615.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG03017.hp1
HG03492.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.154+37905A>T
c.154+37905A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68394962
chrX:68395033 G
G
 A
A
 2 a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0054
a0001c0001t0002g0055
 2 NA18983.hp1
NA18986.hp1
NA18983.hp1
NA18986.hp1
 intron_variant MODIFIER c.154+37834C>T
c.154+37834C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68395033
chrX:68395117 C
C
 T
T
 1 a0002c0002t0003g0001
a0002c0002t0003g0001
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.154+37750G>A
c.154+37750G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68395117
chrX:68395118 G
G
 A
A
 1 a0001c0001t0001g0143
a0001c0001t0001g0143
 1 HG03490.hp1
HG03490.hp1
 intron_variant MODIFIER c.154+37749C>T
c.154+37749C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68395118
chrX:68395172 G
G
 A
A
 1 a0001c0001t0006g0121
a0001c0001t0006g0121
 1 HG01167.hp1
HG01167.hp1
 intron_variant MODIFIER c.154+37695C>T
c.154+37695C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68395172
chrX:68395187 C
C
 T
T
 1 a0001c0001t0002g0057
a0001c0001t0002g0057
 1 NA19012.hp1
NA19012.hp1
 intron_variant MODIFIER c.154+37680G>A
c.154+37680G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68395187
chrX:68395448 C
C
 CT
CT
 1 a0001c0001t0003g0118
a0001c0001t0003g0118
 1 HG02572.hp1
HG02572.hp1
 intron_variant MODIFIER c.154+37418dupA
c.154+37418dupA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68395448
chrX:68395448 CT
CT
 C
C
 1 a0001c0001t0001g0141
a0001c0001t0001g0141
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.154+37418delA
c.154+37418delA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68395448
chrX:68395916 C
C
 G
G
 1 a0001c0001t0003g0122
a0001c0001t0003g0122
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.154+36951G>C
c.154+36951G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68395916
chrX:68396267 C
C
 CA
CA
 1 a0001c0001t0023g0037
a0001c0001t0023g0037
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.154+36599dupT
c.154+36599dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68396267
chrX:68396267 CA
CA
 C
C
 2 a0001c0001t0001g0038
a0001c0001t0003g0122
a0001c0001t0001g0038
a0001c0001t0003g0122
 2 HG02602.hp1
NA19043.hp1
HG02602.hp1
NA19043.hp1
 intron_variant MODIFIER c.154+36599delT
c.154+36599delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68396267
chrX:68396289 G
G
 T
T
 87 a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
others(84): Show 
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0123
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0006g0013
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 87 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(84): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00673.hp1
HG00735.hp1
HG01069.hp1
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01934.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02922.hp2
HG03017.hp1
HG03492.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.154+36578C>A
c.154+36578C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68396289
chrX:68396398 C
C
 CA
CA
 7 a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0003g0151
others(4): Show 
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0003g0151
a0001c0001t0004g0094
a0001c0001t0009g0129
a0001c0001t0020g0099
a0001c0001t0023g0037
 7 HG00642.hp1
HG00738.hp1
HG01243.hp1
others(4): Show 
HG00642.hp1
HG00738.hp1
HG01243.hp1
HG03017.hp1
HG03209.hp1
HG04115.hp1
NA18522.hp1
 intron_variant MODIFIER c.154+36468dupT
c.154+36468dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68396398
chrX:68396398 C
C
 CAA
CAA
 5 a0001c0001t0002g0133
a0001c0001t0004g0030
a0001c0001t0004g0095
others(2): Show 
a0001c0001t0002g0133
a0001c0001t0004g0030
a0001c0001t0004g0095
a0001c0001t0007g0022
a0001c0001t0007g0023
 5 HG01081.hp2
HG01891.hp1
HG02559.hp1
others(2): Show 
HG01081.hp2
HG01891.hp1
HG02559.hp1
HG03516.hp1
NA19030.hp2
 intron_variant MODIFIER c.154+36467_154+3646
others(6): Show 
c.154+36467_154+36468dupTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68396398
chrX:68396398 C
C
 CAAA
CAAA
 9 a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0003g0018
others(6): Show 
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0004g0026
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0033
a0001c0001t0021g0150
 9 HG01167.hp1
HG01169.hp1
HG02109.hp2
others(6): Show 
HG01167.hp1
HG01169.hp1
HG02109.hp2
HG02257.hp2
HG02280.hp1
HG02809.hp1
HG03471.hp1
NA18906.hp1
NA19030.hp1
 intron_variant MODIFIER c.154+36466_154+3646
others(7): Show 
c.154+36466_154+36468dupTTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68396398
chrX:68396398 C
C
 CAAAA
CAAAA
 1 a0001c0001t0006g0105
a0001c0001t0006g0105
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.154+36465_154+3646
others(8): Show 
c.154+36465_154+36468dupTTTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68396398
chrX:68396398 C
C
 CAAAAA
CAAAAA
 1 a0001c0001t0006g0106
a0001c0001t0006g0106
 1 HG02647.hp1
HG02647.hp1
 intron_variant MODIFIER c.154+36464_154+3646
others(9): Show 
c.154+36464_154+36468dupTTTTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68396398
chrX:68396398 CA
CA
 C
C
 75 a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
others(72): Show 
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0028
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0101
a0001c0001t0004g0004
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0006g0013
a0001c0001t0008g0096
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0024g0007
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
 75 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(72): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00673.hp1
HG00735.hp1
HG01069.hp1
HG01099.hp1
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01934.hp1
HG01952.hp1
HG02015.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02135.hp1
HG02257.hp1
HG02280.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02809.hp2
HG02922.hp2
HG03492.hp1
HG03688.hp1
HG03710.hp1
HG04199.hp1
NA18747.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18990.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.154+36468delT
c.154+36468delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68396398
chrX:68396398 CAA
CAA
 C
C
 2 a0001c0001t0004g0010
a0004c0005t0012g0024
a0001c0001t0004g0010
a0004c0005t0012g0024
 2 HG01169.hp2
HG02451.hp2
HG01169.hp2
HG02451.hp2
 intron_variant MODIFIER c.154+36467_154+3646
others(6): Show 
c.154+36467_154+36468delTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68396398
chrX:68396398 CAAAAAAA
others(1): Show 
CAAAAAAAA
 C
C
 1 a0001c0001t0004g0034
a0001c0001t0004g0034
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.154+36461_154+3646
others(12): Show 
c.154+36461_154+36468delTTTTTTTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68396398
chrX:68396398 CAAAAAAA
others(5): Show 
CAAAAAAAAAAAA
 C
C
 16 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(13): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0135
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0008g0112
a0001c0001t0030g0155
 16 HG01891.hp2
HG02486.hp1
HG02572.hp1
others(13): Show 
HG01891.hp2
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.154+36457_154+3646
others(16): Show 
c.154+36457_154+36468delTTTTTTTTTTTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68396398
chrX:68396420 A
A
 AAC
AAC
 2 a0001c0001t0003g0122
a0001c0001t0007g0032
a0001c0001t0003g0122
a0001c0001t0007g0032
 2 HG03130.hp1
NA19043.hp1
HG03130.hp1
NA19043.hp1
 intron_variant MODIFIER c.154+36446_154+3644
others(6): Show 
c.154+36446_154+36447insGT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68396420
chrX:68396430 T
T
 C
C
 2 a0001c0001t0003g0122
a0001c0001t0007g0032
a0001c0001t0003g0122
a0001c0001t0007g0032
 2 HG03130.hp1
NA19043.hp1
HG03130.hp1
NA19043.hp1
 intron_variant MODIFIER c.154+36437A>G
c.154+36437A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68396430
chrX:68396437 G
G
 A
A
 2 a0001c0003t0010g0085
a0001c0003t0010g0089
a0001c0003t0010g0085
a0001c0003t0010g0089
 2 HG02735.hp1
HG03688.hp1
HG02735.hp1
HG03688.hp1
 intron_variant MODIFIER c.154+36430C>T
c.154+36430C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68396437
chrX:68396913 T
T
 G
G
 2 a0001c0001t0003g0122
a0001c0001t0007g0032
a0001c0001t0003g0122
a0001c0001t0007g0032
 2 HG03130.hp1
NA19043.hp1
HG03130.hp1
NA19043.hp1
 intron_variant MODIFIER c.154+35954A>C
c.154+35954A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68396913
chrX:68397358 A
A
 G
G
 1 a0001c0001t0001g0149
a0001c0001t0001g0149
 1 NA20805.hp1
NA20805.hp1
 intron_variant MODIFIER c.154+35509T>C
c.154+35509T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68397358
chrX:68397447 T
T
 G
G
 2 a0001c0001t0003g0122
a0001c0001t0007g0032
a0001c0001t0003g0122
a0001c0001t0007g0032
 2 HG03130.hp1
NA19043.hp1
HG03130.hp1
NA19043.hp1
 intron_variant MODIFIER c.154+35420A>C
c.154+35420A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68397447
chrX:68397460 C
C
 CT
CT
 18 a0001c0001t0001g0153
a0001c0001t0002g0014
a0001c0001t0002g0108
others(15): Show 
a0001c0001t0001g0153
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0003g0063
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0004g0117
a0001c0001t0005g0110
a0001c0001t0008g0112
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0015g0148
a0001c0001t0020g0099
 18 HG00738.hp1
HG01346.hp2
HG01891.hp2
others(15): Show 
HG00738.hp1
HG01346.hp2
HG01891.hp2
HG01943.hp1
HG02615.hp1
HG02818.hp2
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG04199.hp1
HG04228.hp1
NA18982.hp1
 intron_variant MODIFIER c.154+35406dupA
c.154+35406dupA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68397460
chrX:68397460 C
C
 CTT
CTT
 6 a0001c0001t0001g0048
a0001c0001t0002g0135
a0001c0001t0003g0118
others(3): Show 
a0001c0001t0001g0048
a0001c0001t0002g0135
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0005g0107
a0001c0001t0007g0032
 6 HG02486.hp1
HG02572.hp1
HG02738.hp1
others(3): Show 
HG02486.hp1
HG02572.hp1
HG02738.hp1
HG03130.hp1
NA18906.hp2
NA19043.hp1
 intron_variant MODIFIER c.154+35405_154+3540
others(6): Show 
c.154+35405_154+35406dupAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68397460
chrX:68397460 CT
CT
 C
C
 14 a0001c0001t0001g0025
a0001c0001t0001g0064
a0001c0001t0001g0075
others(11): Show 
a0001c0001t0001g0025
a0001c0001t0001g0064
a0001c0001t0001g0075
a0001c0001t0001g0093
a0001c0001t0001g0147
a0001c0001t0003g0100
a0001c0001t0004g0004
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0006g0013
a0001c0001t0008g0096
a0001c0001t0019g0003
a0003c0004t0014g0102
 14 HG00735.hp1
HG01106.hp1
HG01515.hp1
others(11): Show 
HG00735.hp1
HG01106.hp1
HG01515.hp1
HG01934.hp1
HG02109.hp1
HG02257.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02630.hp1
HG02809.hp2
HG02886.hp1
HG02922.hp2
NA18977.hp1
 intron_variant MODIFIER c.154+35406delA
c.154+35406delA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68397460
chrX:68397520 A
A
 AT
AT
 1 a0001c0001t0001g0058
a0001c0001t0001g0058
 1 HG02129.hp1
HG02129.hp1
 intron_variant MODIFIER c.154+35346dupA
c.154+35346dupA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68397520
chrX:68397522 TTA
TTA
 T
T
 2 a0001c0001t0001g0052
a0001c0001t0001g0069
a0001c0001t0001g0052
a0001c0001t0001g0069
 2 HG00140.hp1
HG02135.hp1
HG00140.hp1
HG02135.hp1
 intron_variant MODIFIER c.154+35343_154+3534
others(6): Show 
c.154+35343_154+35344delTA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68397522
chrX:68397523 TA
TA
 T
T
 65 a0001c0001t0001g0009
a0001c0001t0001g0016
a0001c0001t0001g0017
others(62): Show 
a0001c0001t0001g0009
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0149
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0123
a0001c0001t0003g0063
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0008g0096
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 65 HG00099.hp2
HG00280.hp1
HG00621.hp1
others(62): Show 
HG00099.hp2
HG00280.hp1
HG00621.hp1
HG00673.hp1
HG01069.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02074.hp1
HG02083.hp1
HG02257.hp1
HG02300.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG03017.hp1
HG03492.hp1
HG03688.hp1
HG03942.hp1
HG04199.hp1
NA18747.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18955.hp1
NA18960.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.154+35343delT
c.154+35343delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68397523
chrX:68397524 A
A
 T
T
 1 a0001c0001t0001g0058
a0001c0001t0001g0058
 1 HG02129.hp1
HG02129.hp1
 intron_variant MODIFIER c.154+35343T>A
c.154+35343T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68397524
chrX:68397524 AT
AT
 A
A
 64 a0001c0001t0001g0015
a0001c0001t0001g0045
a0001c0001t0001g0050
others(61): Show 
a0001c0001t0001g0015
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0067
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0082
a0001c0001t0001g0093
a0001c0001t0001g0147
a0001c0001t0001g0154
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0065
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0027g0072
a0001c0001t0028g0084
a0003c0004t0014g0102
 64 HG00099.hp1
HG00609.hp1
HG00642.hp1
others(61): Show 
HG00099.hp1
HG00609.hp1
HG00642.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp2
HG01099.hp1
HG01167.hp1
HG01169.hp1
HG01243.hp1
HG01255.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG02055.hp1
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03710.hp1
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18952.hp1
NA19004.hp1
NA19005.hp1
NA19030.hp1
NA19030.hp2
NA19070.hp1
NA19085.hp1
NA19088.hp1
 intron_variant MODIFIER c.154+35342delA
c.154+35342delA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68397524
chrX:68397524 ATT
ATT
 A
A
 2 a0001c0001t0005g0152
a0001c0001t0030g0155
a0001c0001t0005g0152
a0001c0001t0030g0155
 2 HG02630.hp2
HG02895.hp1
HG02630.hp2
HG02895.hp1
 intron_variant MODIFIER c.154+35341_154+3534
others(6): Show 
c.154+35341_154+35342delAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68397524
chrX:68397524 ATTTTTTT
others(2): Show 
ATTTTTTTTT
 A
A
 2 a0001c0001t0003g0122
a0001c0001t0007g0032
a0001c0001t0003g0122
a0001c0001t0007g0032
 2 HG03130.hp1
NA19043.hp1
HG03130.hp1
NA19043.hp1
 intron_variant MODIFIER c.154+35334_154+3534
others(13): Show 
c.154+35334_154+35342delAAAAAAAAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68397524
chrX:68397529 T
T
 A
A
 7 a0001c0001t0001g0071
a0001c0001t0001g0147
a0001c0001t0002g0108
others(4): Show 
a0001c0001t0001g0071
a0001c0001t0001g0147
a0001c0001t0002g0108
a0001c0001t0003g0118
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0033
 7 HG00642.hp1
HG01934.hp1
HG02572.hp1
others(4): Show 
HG00642.hp1
HG01934.hp1
HG02572.hp1
HG02647.hp1
HG02886.hp2
HG03516.hp2
NA19030.hp1
 intron_variant MODIFIER c.154+35338A>T
c.154+35338A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68397529
chrX:68397561 T
T
 C
C
 2 a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0022
a0001c0001t0007g0023
 2 HG02559.hp1
NA19030.hp2
HG02559.hp1
NA19030.hp2
 intron_variant MODIFIER c.154+35306A>G
c.154+35306A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68397561
chrX:68398078 G
G
 A
A
 1 a0001c0001t0001g0009
a0001c0001t0001g0009
 1 NA18995.hp1
NA18995.hp1
 intron_variant MODIFIER c.154+34789C>T
c.154+34789C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68398078
chrX:68398342 T
T
 C
C
 1 a0001c0001t0003g0113
a0001c0001t0003g0113
 1 HG02723.hp2
HG02723.hp2
 intron_variant MODIFIER c.154+34525A>G
c.154+34525A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68398342
chrX:68398458 C
C
 T
T
 1 a0001c0001t0001g0149
a0001c0001t0001g0149
 1 NA20805.hp1
NA20805.hp1
 intron_variant MODIFIER c.154+34409G>A
c.154+34409G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68398458
chrX:68398809 C
C
 T
T
 80 a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
others(77): Show 
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0123
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0028g0084
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 80 HG00099.hp2
HG00140.hp1
HG00280.hp1
others(77): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00673.hp1
HG00735.hp1
HG01069.hp1
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01934.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02300.hp1
HG02602.hp1
HG02615.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG03017.hp1
HG03492.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.154+34058G>A
c.154+34058G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68398809
chrX:68398960 A
A
 AGT
AGT
 22 a0001c0001t0001g0145
a0001c0001t0002g0019
a0001c0001t0002g0021
others(19): Show 
a0001c0001t0001g0145
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0116
a0001c0001t0002g0133
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0113
a0001c0001t0004g0005
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0033
a0001c0001t0008g0112
a0001c0001t0020g0099
a0001c0001t0030g0155
 22 HG00735.hp2
HG00738.hp1
HG01081.hp2
others(19): Show 
HG00735.hp2
HG00738.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02109.hp2
HG02257.hp2
HG02280.hp1
HG02486.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG03540.hp2
HG03579.hp1
NA18906.hp1
NA18944.hp1
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.154+33905_154+3390
others(6): Show 
c.154+33905_154+33906dupAC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68398960
chrX:68398960 A
A
 AGTGT
AGTGT
 3 a0001c0001t0001g0071
a0001c0001t0001g0141
a0001c0001t0007g0032
a0001c0001t0001g0071
a0001c0001t0001g0141
a0001c0001t0007g0032
 3 HG00642.hp1
HG01074.hp1
HG03130.hp1
HG00642.hp1
HG01074.hp1
HG03130.hp1
 intron_variant MODIFIER c.154+33903_154+3390
others(8): Show 
c.154+33903_154+33906dupACAC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68398960
chrX:68398960 A
A
 AGTGTGT
AGTGTGT
 1 a0001c0001t0021g0150
a0001c0001t0021g0150
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.154+33901_154+3390
others(10): Show 
c.154+33901_154+33906dupACACAC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68398960
chrX:68398960 AGT
AGT
 A
A
 6 a0001c0001t0001g0029
a0001c0001t0001g0053
a0001c0001t0001g0058
others(3): Show 
a0001c0001t0001g0029
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0001t0001g0075
a0001c0001t0002g0057
 6 HG02129.hp1
NA18974.hp1
NA18977.hp1
others(3): Show 
HG02129.hp1
NA18974.hp1
NA18977.hp1
NA18988.hp1
NA19009.hp1
NA19012.hp1
 intron_variant MODIFIER c.154+33905_154+3390
others(6): Show 
c.154+33905_154+33906delAC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68398960
chrX:68398960 AGTGT
AGTGT
 A
A
 77 a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
others(74): Show 
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0123
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0008g0096
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0028g0084
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 77 HG00099.hp2
HG00140.hp1
HG00280.hp1
others(74): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00673.hp1
HG00735.hp1
HG01069.hp1
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01934.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02071.hp1
HG02083.hp1
HG02109.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp1
HG02300.hp1
HG02602.hp1
HG02615.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG03017.hp1
HG03492.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19043.hp1
NA19056.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.154+33903_154+3390
others(8): Show 
c.154+33903_154+33906delACAC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68398960
chrX:68398960 AGTGTGT
AGTGTGT
 A
A
 9 a0001c0001t0001g0086
a0001c0001t0002g0006
a0001c0001t0003g0101
others(6): Show 
a0001c0001t0001g0086
a0001c0001t0002g0006
a0001c0001t0003g0101
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0006g0013
a0001c0001t0027g0072
a0003c0004t0014g0102
 9 HG00099.hp1
HG02074.hp1
HG02280.hp2
others(6): Show 
HG00099.hp1
HG02074.hp1
HG02280.hp2
HG02451.hp2
HG02630.hp1
HG02723.hp1
HG02886.hp1
HG02922.hp2
NA19060.hp1
 intron_variant MODIFIER c.154+33901_154+3390
others(10): Show 
c.154+33901_154+33906delACACAC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68398960
chrX:68399150 G
G
 A
A
 2 a0001c0001t0003g0122
a0001c0001t0007g0032
a0001c0001t0003g0122
a0001c0001t0007g0032
 2 HG03130.hp1
NA19043.hp1
HG03130.hp1
NA19043.hp1
 intron_variant MODIFIER c.154+33717C>T
c.154+33717C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68399150
chrX:68399200 A
A
 T
T
 3 a0001c0001t0004g0026
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0004g0026
a0001c0001t0006g0120
a0001c0001t0006g0121
 3 HG01167.hp1
HG01169.hp1
NA18906.hp1
HG01167.hp1
HG01169.hp1
NA18906.hp1
 intron_variant MODIFIER c.154+33667T>A
c.154+33667T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68399200
chrX:68399371 G
G
 C
C
 2 a0001c0001t0003g0122
a0001c0001t0007g0032
a0001c0001t0003g0122
a0001c0001t0007g0032
 2 HG03130.hp1
NA19043.hp1
HG03130.hp1
NA19043.hp1
 intron_variant MODIFIER c.154+33496C>G
c.154+33496C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68399371
chrX:68399383 G
G
 C
C
 91 a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
others(88): Show 
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0123
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0004g0004
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0006g0013
a0001c0001t0008g0096
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 91 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(88): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00673.hp1
HG00735.hp1
HG01069.hp1
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01934.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02886.hp1
HG02922.hp2
HG03017.hp1
HG03492.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.154+33484C>G
c.154+33484C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68399383
chrX:68399647 G
G
 A
A
 2 a0001c0001t0001g0079
a0001c0001t0001g0090
a0001c0001t0001g0079
a0001c0001t0001g0090
 2 HG01433.hp1
NA20752.hp1
HG01433.hp1
NA20752.hp1
 intron_variant MODIFIER c.154+33220C>T
c.154+33220C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68399647
chrX:68399682 AAAAT
AAAAT
 A
A
 126 a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
others(123): Show 
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 126 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(123): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00673.hp1
HG00735.hp1
HG00738.hp1
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02683.hp1
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03471.hp1
HG03492.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.154+33181_154+3318
others(8): Show 
c.154+33181_154+33184delATTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68399682
chrX:68399819 T
T
 C
C
 1 a0001c0001t0002g0019
a0001c0001t0002g0019
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.154+33048A>G
c.154+33048A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68399819
chrX:68399829 C
C
 CT
CT
 94 a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
others(91): Show 
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0123
a0001c0001t0002g0130
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0006g0013
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 94 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(91): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00673.hp1
HG00735.hp1
HG01069.hp1
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01934.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02886.hp1
HG02922.hp2
HG03017.hp1
HG03130.hp1
HG03139.hp1
HG03492.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.154+33037dupA
c.154+33037dupA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68399829
chrX:68400279 A
A
 G
G
 2 a0001c0001t0003g0122
a0001c0001t0007g0032
a0001c0001t0003g0122
a0001c0001t0007g0032
 2 HG03130.hp1
NA19043.hp1
HG03130.hp1
NA19043.hp1
 intron_variant MODIFIER c.154+32588T>C
c.154+32588T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68400279
chrX:68400458 C
C
 G
G
 142 a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
others(139): Show 
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 142 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(139): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.154+32409G>C
c.154+32409G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68400458
chrX:68400544 A
A
 T
T
 2 a0001c0001t0003g0122
a0001c0001t0007g0032
a0001c0001t0003g0122
a0001c0001t0007g0032
 2 HG03130.hp1
NA19043.hp1
HG03130.hp1
NA19043.hp1
 intron_variant MODIFIER c.154+32323T>A
c.154+32323T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68400544
chrX:68400569 G
G
 A
A
 1 a0001c0001t0001g0154
a0001c0001t0001g0154
 1 NA19005.hp1
NA19005.hp1
 intron_variant MODIFIER c.154+32298C>T
c.154+32298C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68400569
chrX:68400601 TC
TC
 T
T
 2 a0001c0001t0003g0122
a0001c0001t0007g0032
a0001c0001t0003g0122
a0001c0001t0007g0032
 2 HG03130.hp1
NA19043.hp1
HG03130.hp1
NA19043.hp1
 intron_variant MODIFIER c.154+32265delG
c.154+32265delG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68400601
chrX:68400602 C
C
 T
T
 87 a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
others(84): Show 
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0123
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0006g0013
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 87 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(84): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00673.hp1
HG00735.hp1
HG01069.hp1
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01934.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02922.hp2
HG03017.hp1
HG03492.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.154+32265G>A
c.154+32265G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68400602
chrX:68400687 C
C
 T
T
 1 a0001c0001t0004g0005
a0001c0001t0004g0005
 1 HG00735.hp2
HG00735.hp2
 intron_variant MODIFIER c.154+32180G>A
c.154+32180G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68400687
chrX:68400822 G
G
 A
A
 1 a0001c0001t0001g0043
a0001c0001t0001g0043
 1 NA18747.hp1
NA18747.hp1
 intron_variant MODIFIER c.154+32045C>T
c.154+32045C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68400822
chrX:68400849 G
G
 A
A
 1 a0001c0001t0002g0054
a0001c0001t0002g0054
 1 NA18986.hp1
NA18986.hp1
 intron_variant MODIFIER c.154+32018C>T
c.154+32018C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68400849
chrX:68401032 C
C
 T
T
 2 a0001c0001t0003g0122
a0001c0001t0007g0032
a0001c0001t0003g0122
a0001c0001t0007g0032
 2 HG03130.hp1
NA19043.hp1
HG03130.hp1
NA19043.hp1
 intron_variant MODIFIER c.154+31835G>A
c.154+31835G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68401032
chrX:68401260 A
A
 G
G
 3 a0001c0001t0003g0113
a0001c0001t0003g0122
a0001c0001t0007g0032
a0001c0001t0003g0113
a0001c0001t0003g0122
a0001c0001t0007g0032
 3 HG02723.hp2
HG03130.hp1
NA19043.hp1
HG02723.hp2
HG03130.hp1
NA19043.hp1
 intron_variant MODIFIER c.154+31607T>C
c.154+31607T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68401260
chrX:68401594 G
G
 A
A
 1 a0001c0001t0030g0155
a0001c0001t0030g0155
 1 HG02895.hp1
HG02895.hp1
 intron_variant MODIFIER c.154+31273C>T
c.154+31273C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68401594
chrX:68401627 G
G
 C
C
 2 a0001c0001t0003g0122
a0001c0001t0007g0032
a0001c0001t0003g0122
a0001c0001t0007g0032
 2 HG03130.hp1
NA19043.hp1
HG03130.hp1
NA19043.hp1
 intron_variant MODIFIER c.154+31240C>G
c.154+31240C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68401627
chrX:68401772 T
T
 C
C
 1 a0001c0001t0001g0043
a0001c0001t0001g0043
 1 NA18747.hp1
NA18747.hp1
 intron_variant MODIFIER c.154+31095A>G
c.154+31095A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68401772
chrX:68401784 A
A
 G
G
 3 a0001c0001t0003g0113
a0001c0001t0003g0122
a0001c0001t0007g0032
a0001c0001t0003g0113
a0001c0001t0003g0122
a0001c0001t0007g0032
 3 HG02723.hp2
HG03130.hp1
NA19043.hp1
HG02723.hp2
HG03130.hp1
NA19043.hp1
 intron_variant MODIFIER c.154+31083T>C
c.154+31083T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68401784
chrX:68402016 C
C
 G
G
 1 a0001c0001t0015g0148
a0001c0001t0015g0148
 1 HG01943.hp1
HG01943.hp1
 intron_variant MODIFIER c.154+30851G>C
c.154+30851G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68402016
chrX:68402255 GGAAA
GGAAA
 G
G
 1 a0001c0001t0002g0006
a0001c0001t0002g0006
 1 HG02074.hp1
HG02074.hp1
 intron_variant MODIFIER c.154+30608_154+3061
others(8): Show 
c.154+30608_154+30611delTTTC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68402255
chrX:68402346 AAGGAGG
AAGGAGG
 A
A
 2 a0001c0001t0003g0122
a0001c0001t0007g0032
a0001c0001t0003g0122
a0001c0001t0007g0032
 2 HG03130.hp1
NA19043.hp1
HG03130.hp1
NA19043.hp1
 intron_variant MODIFIER c.154+30515_154+3052
others(10): Show 
c.154+30515_154+30520delCCTCCT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68402346
chrX:68402387 AAGAAG
AAGAAG
 A
A
 93 a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
others(90): Show 
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0115
a0001c0001t0002g0123
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0006g0013
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 93 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(90): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00673.hp1
HG00735.hp1
HG01069.hp1
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01934.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02886.hp1
HG02922.hp2
HG03017.hp1
HG03130.hp1
HG03492.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.154+30475_154+3047
others(9): Show 
c.154+30475_154+30479delCTTCT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68402387
chrX:68402813 G
G
 T
T
 1 a0001c0001t0001g0062
a0001c0001t0001g0062
 1 NA19009.hp1
NA19009.hp1
 intron_variant MODIFIER c.154+30054C>A
c.154+30054C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68402813
chrX:68403078 A
A
 G
G
 126 a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
others(123): Show 
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 126 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(123): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00673.hp1
HG00735.hp1
HG00738.hp1
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02683.hp1
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03471.hp1
HG03492.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.154+29789T>C
c.154+29789T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68403078
chrX:68403268 T
T
 C
C
 126 a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
others(123): Show 
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0132
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0021g0150
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 126 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(123): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00673.hp1
HG00735.hp1
HG00738.hp1
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02683.hp1
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03471.hp1
HG03492.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.154+29599A>G
c.154+29599A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68403268
chrX:68403412 A
A
 G
G
 4 a0001c0001t0002g0115
a0001c0001t0004g0004
a0001c0001t0008g0096
others(1): Show 
a0001c0001t0002g0115
a0001c0001t0004g0004
a0001c0001t0008g0096
a0001c0001t0019g0003
 4 HG02109.hp1
HG02145.hp1
HG02257.hp1
others(1): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp1
HG02809.hp2
 intron_variant MODIFIER c.154+29455T>C
c.154+29455T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68403412
chrX:68403519 G
G
 A
A
 2 a0001c0001t0003g0122
a0001c0001t0007g0032
a0001c0001t0003g0122
a0001c0001t0007g0032
 2 HG03130.hp1
NA19043.hp1
HG03130.hp1
NA19043.hp1
 intron_variant MODIFIER c.154+29348C>T
c.154+29348C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68403519
chrX:68403627 T
T
 C
C
 2 a0001c0001t0003g0122
a0001c0001t0007g0032
a0001c0001t0003g0122
a0001c0001t0007g0032
 2 HG03130.hp1
NA19043.hp1
HG03130.hp1
NA19043.hp1
 intron_variant MODIFIER c.154+29240A>G
c.154+29240A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68403627
chrX:68403630 C
C
 T
T
 2 a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0105
a0001c0001t0006g0106
 2 HG02647.hp1
HG02886.hp2
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.154+29237G>A
c.154+29237G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68403630
chrX:68403647 C
C
 T
T
 4 a0001c0001t0001g0052
a0001c0001t0002g0019
a0001c0001t0003g0018
others(1): Show 
a0001c0001t0001g0052
a0001c0001t0002g0019
a0001c0001t0003g0018
a0001c0001t0003g0020
 4 HG02109.hp2
HG02135.hp1
HG02280.hp1
others(1): Show 
HG02109.hp2
HG02135.hp1
HG02280.hp1
HG02809.hp1
 intron_variant MODIFIER c.154+29220G>A
c.154+29220G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68403647
chrX:68403726 C
C
 T
T
 1 a0001c0001t0001g0080
a0001c0001t0001g0080
 1 HG03017.hp1
HG03017.hp1
 intron_variant MODIFIER c.154+29141G>A
c.154+29141G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68403726
chrX:68403957 A
A
 G
G
 1 a0001c0001t0004g0004
a0001c0001t0004g0004
 1 HG02109.hp1
HG02109.hp1
 intron_variant MODIFIER c.154+28910T>C
c.154+28910T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68403957
chrX:68404144 A
A
 G
G
 1 a0001c0001t0020g0099
a0001c0001t0020g0099
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.154+28723T>C
c.154+28723T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68404144
chrX:68404148 T
T
 C
C
 3 a0001c0001t0003g0113
a0001c0001t0003g0122
a0001c0001t0007g0032
a0001c0001t0003g0113
a0001c0001t0003g0122
a0001c0001t0007g0032
 3 HG02723.hp2
HG03130.hp1
NA19043.hp1
HG02723.hp2
HG03130.hp1
NA19043.hp1
 intron_variant MODIFIER c.154+28719A>G
c.154+28719A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68404148
chrX:68404164 CT
CT
 C
C
 1 a0001c0001t0030g0155
a0001c0001t0030g0155
 1 HG02895.hp1
HG02895.hp1
 intron_variant MODIFIER c.154+28702delA
c.154+28702delA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68404164
chrX:68404372 A
A
 G
G
 14 a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0133
others(11): Show 
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0133
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0033
a0001c0001t0021g0150
 14 HG01081.hp2
HG01167.hp1
HG01169.hp1
others(11): Show 
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01891.hp1
HG02055.hp1
HG02109.hp2
HG02257.hp2
HG02280.hp1
HG02559.hp1
HG02809.hp1
HG03471.hp1
NA18906.hp1
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.154+28495T>C
c.154+28495T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68404372
chrX:68404472 G
G
 A
A
 2 a0001c0001t0002g0133
a0001c0001t0007g0033
a0001c0001t0002g0133
a0001c0001t0007g0033
 2 HG01891.hp1
NA19030.hp1
HG01891.hp1
NA19030.hp1
 intron_variant MODIFIER c.154+28395C>T
c.154+28395C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68404472
chrX:68404525 CA
CA
 C
C
 1 a0001c0001t0030g0155
a0001c0001t0030g0155
 1 HG02895.hp1
HG02895.hp1
 intron_variant MODIFIER c.154+28341delT
c.154+28341delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68404525
chrX:68404735 A
A
 G
G
 6 a0001c0001t0003g0101
a0001c0001t0004g0010
a0001c0001t0004g0011
others(3): Show 
a0001c0001t0003g0101
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0006g0013
a0003c0004t0014g0102
 6 HG02280.hp2
HG02451.hp2
HG02630.hp1
others(3): Show 
HG02280.hp2
HG02451.hp2
HG02630.hp1
HG02723.hp1
HG02886.hp1
HG02922.hp2
 intron_variant MODIFIER c.154+28132T>C
c.154+28132T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68404735
chrX:68404779 G
G
 A
A
 1 a0001c0001t0003g0081
a0001c0001t0003g0081
 1 HG03492.hp1
HG03492.hp1
 intron_variant MODIFIER c.154+28088C>T
c.154+28088C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68404779
chrX:68405075 TCAC
TCAC
 T
T
 3 a0001c0001t0004g0004
a0001c0001t0008g0096
a0001c0001t0019g0003
a0001c0001t0004g0004
a0001c0001t0008g0096
a0001c0001t0019g0003
 3 HG02109.hp1
HG02257.hp1
HG02809.hp2
HG02109.hp1
HG02257.hp1
HG02809.hp2
 intron_variant MODIFIER c.154+27789_154+2779
others(7): Show 
c.154+27789_154+27791delGTG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68405075
chrX:68405167 C
C
 A
A
 86 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(83): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0123
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0122
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 86 HG00099.hp2
HG00140.hp1
HG00280.hp1
others(83): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02300.hp1
HG02602.hp1
HG02615.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG03017.hp1
HG03209.hp1
HG03492.hp1
HG03516.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.154+27700G>T
c.154+27700G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68405167
chrX:68405267 G
G
 C
C
 1 a0001c0001t0001g0064
a0001c0001t0001g0064
 1 HG02300.hp1
HG02300.hp1
 intron_variant MODIFIER c.154+27600C>G
c.154+27600C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68405267
chrX:68405312 T
T
 C
C
 3 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0071
 3 HG00642.hp1
HG01346.hp1
HG02602.hp1
HG00642.hp1
HG01346.hp1
HG02602.hp1
 intron_variant MODIFIER c.154+27555A>G
c.154+27555A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68405312
chrX:68405378 C
C
 T
T
 7 a0001c0001t0003g0122
a0001c0001t0004g0030
a0001c0001t0004g0034
others(4): Show 
a0001c0001t0003g0122
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0021g0150
 7 HG01081.hp2
HG02055.hp1
HG02257.hp1
others(4): Show 
HG01081.hp2
HG02055.hp1
HG02257.hp1
HG03130.hp1
HG03471.hp1
NA19030.hp1
NA19043.hp1
 intron_variant MODIFIER c.154+27489G>A
c.154+27489G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68405378
chrX:68405393 G
G
 A
A
 1 a0001c0001t0001g0143
a0001c0001t0001g0143
 1 HG03490.hp1
HG03490.hp1
 intron_variant MODIFIER c.154+27474C>T
c.154+27474C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68405393
chrX:68405828 G
G
 C
C
 1 a0001c0001t0001g0082
a0001c0001t0001g0082
 1 HG03710.hp1
HG03710.hp1
 intron_variant MODIFIER c.154+27039C>G
c.154+27039C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68405828
chrX:68405877 C
C
 T
T
 1 a0001c0001t0003g0111
a0001c0001t0003g0111
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.154+26990G>A
c.154+26990G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68405877
chrX:68405974 A
A
 T
T
 2 a0001c0001t0004g0004
a0001c0001t0019g0003
a0001c0001t0004g0004
a0001c0001t0019g0003
 2 HG02109.hp1
HG02809.hp2
HG02109.hp1
HG02809.hp2
 intron_variant MODIFIER c.154+26893T>A
c.154+26893T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68405974
chrX:68406123 G
G
 A
A
 28 a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0143
others(25): Show 
a0001c0001t0001g0132
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0147
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0003g0122
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0015g0148
a0001c0001t0021g0150
 28 HG01069.hp1
HG01081.hp2
HG01243.hp1
others(25): Show 
HG01069.hp1
HG01081.hp2
HG01243.hp1
HG01255.hp1
HG01891.hp1
HG01934.hp1
HG01943.hp1
HG02055.hp1
HG02132.hp1
HG02257.hp1
HG02258.hp1
HG02451.hp1
HG02559.hp2
HG02630.hp2
HG02717.hp1
HG02818.hp1
HG02976.hp1
HG03130.hp1
HG03471.hp1
HG03490.hp1
HG03540.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp2
NA18944.hp1
NA18966.hp1
NA19030.hp1
NA19043.hp1
 intron_variant MODIFIER c.154+26744C>T
c.154+26744C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68406123
chrX:68406145 C
C
 CA
CA
 4 a0001c0001t0003g0101
a0001c0001t0004g0010
a0001c0001t0006g0013
others(1): Show 
a0001c0001t0003g0101
a0001c0001t0004g0010
a0001c0001t0006g0013
a0003c0004t0014g0102
 4 HG02451.hp2
HG02630.hp1
HG02723.hp1
others(1): Show 
HG02451.hp2
HG02630.hp1
HG02723.hp1
HG02886.hp1
 intron_variant MODIFIER c.154+26721dupT
c.154+26721dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68406145
chrX:68406145 CA
CA
 C
C
 1 a0001c0001t0001g0048
a0001c0001t0001g0048
 1 HG02738.hp1
HG02738.hp1
 intron_variant MODIFIER c.154+26721delT
c.154+26721delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68406145
chrX:68406350 G
G
 A
A
 3 a0001c0001t0001g0154
a0001c0001t0002g0057
a0001c0001t0024g0007
a0001c0001t0001g0154
a0001c0001t0002g0057
a0001c0001t0024g0007
 3 NA19000.hp1
NA19005.hp1
NA19012.hp1
NA19000.hp1
NA19005.hp1
NA19012.hp1
 intron_variant MODIFIER c.154+26517C>T
c.154+26517C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68406350
chrX:68406567 A
A
 G
G
 106 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(103): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0004g0005
a0001c0001t0004g0026
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0008g0112
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 106 HG00099.hp2
HG00140.hp1
HG00280.hp1
others(103): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp2
HG01928.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp1
HG02300.hp1
HG02486.hp1
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.154+26300T>C
c.154+26300T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68406567
chrX:68406612 C
C
 CA
CA
 1 a0001c0001t0003g0081
a0001c0001t0003g0081
 1 HG03492.hp1
HG03492.hp1
 intron_variant MODIFIER c.154+26254dupT
c.154+26254dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68406612
chrX:68406652 T
T
 C
C
 2 a0001c0001t0018g0104
a0001c0001t0022g0103
a0001c0001t0018g0104
a0001c0001t0022g0103
 2 HG00280.hp1
HG01081.hp1
HG00280.hp1
HG01081.hp1
 intron_variant MODIFIER c.154+26215A>G
c.154+26215A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68406652
chrX:68407185 C
C
 A
A
 1 a0001c0001t0003g0109
a0001c0001t0003g0109
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.154+25682G>T
c.154+25682G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68407185
chrX:68407205 AAAAT
AAAAT
 A
A
 1 a0001c0001t0019g0003
a0001c0001t0019g0003
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.154+25658_154+2566
others(8): Show 
c.154+25658_154+25661delATTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68407205
chrX:68407233 T
T
 A
A
 1 a0001c0001t0001g0039
a0001c0001t0001g0039
 1 HG02698.hp1
HG02698.hp1
 intron_variant MODIFIER c.154+25634A>T
c.154+25634A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68407233
chrX:68407365 T
T
 C
C
 1 a0001c0001t0001g0067
a0001c0001t0001g0067
 1 NA18952.hp1
NA18952.hp1
 intron_variant MODIFIER c.154+25502A>G
c.154+25502A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68407365
chrX:68407582 G
G
 T
T
 1 a0001c0001t0023g0037
a0001c0001t0023g0037
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.154+25285C>A
c.154+25285C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68407582
chrX:68407690 G
G
 A
A
 1 a0001c0001t0005g0138
a0001c0001t0005g0138
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.154+25177C>T
c.154+25177C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68407690
chrX:68407758 A
A
 G
G
 109 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(106): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0004g0005
a0001c0001t0004g0026
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0008g0112
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 109 HG00099.hp2
HG00140.hp1
HG00280.hp1
others(106): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp2
HG01928.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp1
HG02300.hp1
HG02486.hp1
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.154+25109T>C
c.154+25109T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68407758
chrX:68408012 C
C
 T
T
 2 a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0006g0120
a0001c0001t0006g0121
 2 HG01167.hp1
HG01169.hp1
HG01167.hp1
HG01169.hp1
 intron_variant MODIFIER c.154+24855G>A
c.154+24855G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68408012
chrX:68408209 C
C
 T
T
 85 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(82): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0123
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 85 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(82): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02300.hp1
HG02602.hp1
HG02615.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG03017.hp1
HG03209.hp1
HG03492.hp1
HG03516.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.154+24658G>A
c.154+24658G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68408209
chrX:68408326 G
G
 C
C
 2 a0001c0001t0004g0004
a0001c0001t0019g0003
a0001c0001t0004g0004
a0001c0001t0019g0003
 2 HG02109.hp1
HG02809.hp2
HG02109.hp1
HG02809.hp2
 intron_variant MODIFIER c.154+24541C>G
c.154+24541C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68408326
chrX:68408479 T
T
 C
C
 1 a0001c0001t0001g0132
a0001c0001t0001g0132
 1 HG01069.hp1
HG01069.hp1
 intron_variant MODIFIER c.154+24388A>G
c.154+24388A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68408479
chrX:68408536 C
C
 G
G
 3 a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0008g0096
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0008g0096
 3 HG01081.hp2
HG02055.hp1
HG02257.hp1
HG01081.hp2
HG02055.hp1
HG02257.hp1
 intron_variant MODIFIER c.154+24331G>C
c.154+24331G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68408536
chrX:68408782 C
C
 T
T
 2 a0001c0001t0002g0115
a0001c0001t0011g0061
a0001c0001t0002g0115
a0001c0001t0011g0061
 2 HG02145.hp1
NA18982.hp1
HG02145.hp1
NA18982.hp1
 intron_variant MODIFIER c.154+24085G>A
c.154+24085G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68408782
chrX:68408908 C
C
 T
T
 6 a0001c0001t0003g0122
a0001c0001t0004g0030
a0001c0001t0004g0034
others(3): Show 
a0001c0001t0003g0122
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
 6 HG01081.hp2
HG02055.hp1
HG02257.hp1
others(3): Show 
HG01081.hp2
HG02055.hp1
HG02257.hp1
HG03130.hp1
NA19030.hp1
NA19043.hp1
 intron_variant MODIFIER c.154+23959G>A
c.154+23959G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68408908
chrX:68409238 G
G
 A
A
 1 a0001c0001t0001g0040
a0001c0001t0001g0040
 1 NA18965.hp1
NA18965.hp1
 intron_variant MODIFIER c.154+23629C>T
c.154+23629C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68409238
chrX:68409434 G
G
 C
C
 1 a0001c0001t0001g0058
a0001c0001t0001g0058
 1 HG02129.hp1
HG02129.hp1
 intron_variant MODIFIER c.154+23433C>G
c.154+23433C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68409434
chrX:68409731 T
T
 C
C
 2 a0001c0001t0004g0004
a0001c0001t0019g0003
a0001c0001t0004g0004
a0001c0001t0019g0003
 2 HG02109.hp1
HG02809.hp2
HG02109.hp1
HG02809.hp2
 intron_variant MODIFIER c.154+23136A>G
c.154+23136A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68409731
chrX:68409741 G
G
 A
A
 2 a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0105
a0001c0001t0006g0106
 2 HG02647.hp1
HG02886.hp2
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.154+23126C>T
c.154+23126C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68409741
chrX:68409811 C
C
 T
T
 1 a0001c0001t0007g0033
a0001c0001t0007g0033
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.154+23056G>A
c.154+23056G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68409811
chrX:68410445 C
C
 G
G
 2 a0001c0001t0018g0104
a0001c0001t0022g0103
a0001c0001t0018g0104
a0001c0001t0022g0103
 2 HG00280.hp1
HG01081.hp1
HG00280.hp1
HG01081.hp1
 intron_variant MODIFIER c.154+22422G>C
c.154+22422G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68410445
chrX:68410559 C
C
 CA
CA
 2 a0001c0001t0003g0122
a0001c0003t0010g0089
a0001c0001t0003g0122
a0001c0003t0010g0089
 2 HG03688.hp1
NA19043.hp1
HG03688.hp1
NA19043.hp1
 intron_variant MODIFIER c.154+22307dupT
c.154+22307dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68410559
chrX:68410559 CA
CA
 C
C
 22 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(19): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0004g0026
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0008g0112
a0001c0001t0018g0104
a0001c0001t0022g0103
a0001c0001t0030g0155
 22 HG00280.hp1
HG01081.hp1
HG01891.hp2
others(19): Show 
HG00280.hp1
HG01081.hp1
HG01891.hp2
HG02145.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02647.hp1
HG02723.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp1
 intron_variant MODIFIER c.154+22307delT
c.154+22307delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68410559
chrX:68410922 T
T
 C
C
 1 a0001c0001t0004g0026
a0001c0001t0004g0026
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.154+21945A>G
c.154+21945A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68410922
chrX:68410976 T
T
 C
C
 2 a0001c0001t0001g0154
a0001c0001t0002g0057
a0001c0001t0001g0154
a0001c0001t0002g0057
 2 NA19005.hp1
NA19012.hp1
NA19005.hp1
NA19012.hp1
 intron_variant MODIFIER c.154+21891A>G
c.154+21891A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68410976
chrX:68411055 T
T
 G
G
 1 a0001c0001t0030g0155
a0001c0001t0030g0155
 1 HG02895.hp1
HG02895.hp1
 intron_variant MODIFIER c.154+21812A>C
c.154+21812A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68411055
chrX:68411143 A
A
 AT
AT
 124 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(121): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0008g0112
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 124 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(121): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp2
HG01928.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02683.hp1
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp2
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.154+21723dupA
c.154+21723dupA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68411143
chrX:68411399 G
G
 A
A
 1 a0001c0001t0001g0145
a0001c0001t0001g0145
 1 NA18944.hp1
NA18944.hp1
 intron_variant MODIFIER c.154+21468C>T
c.154+21468C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68411399
chrX:68411504 A
A
 G
G
 118 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(115): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0026
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0008g0112
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 118 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(115): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp2
HG01928.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02280.hp1
HG02300.hp1
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp2
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.154+21363T>C
c.154+21363T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68411504
chrX:68411557 G
G
 A
A
 3 a0001c0001t0002g0125
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0002g0125
a0001c0001t0009g0128
a0001c0001t0009g0129
 3 HG01243.hp1
HG01255.hp1
HG02451.hp1
HG01243.hp1
HG01255.hp1
HG02451.hp1
 intron_variant MODIFIER c.154+21310C>T
c.154+21310C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68411557
chrX:68411613 GCTGT
GCTGT
 G
G
 1 a0001c0001t0001g0070
a0001c0001t0001g0070
 1 NA19056.hp1
NA19056.hp1
 intron_variant MODIFIER c.154+21250_154+2125
others(8): Show 
c.154+21250_154+21253delACAG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68411613
chrX:68411889 G
G
 A
A
 1 a0001c0001t0013g0042
a0001c0001t0013g0042
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.154+20978C>T
c.154+20978C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68411889
chrX:68411906 G
G
 A
A
 1 a0001c0001t0005g0152
a0001c0001t0005g0152
 1 HG02630.hp2
HG02630.hp2
 intron_variant MODIFIER c.154+20961C>T
c.154+20961C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68411906
chrX:68412422 T
T
 C
C
 130 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(127): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 130 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(127): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp2
HG01928.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02683.hp1
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.154+20445A>G
c.154+20445A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68412422
chrX:68412439 T
T
 C
C
 18 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(15): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0126
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0004g0026
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0008g0112
a0001c0001t0030g0155
 18 HG01891.hp2
HG02145.hp1
HG02486.hp1
others(15): Show 
HG01891.hp2
HG02145.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02723.hp2
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp1
 intron_variant MODIFIER c.154+20428A>G
c.154+20428A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68412439
chrX:68412798 G
G
 C
C
 6 a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0003g0018
others(3): Show 
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0007g0022
a0001c0001t0007g0023
 6 HG02109.hp2
HG02257.hp2
HG02280.hp1
others(3): Show 
HG02109.hp2
HG02257.hp2
HG02280.hp1
HG02559.hp1
HG02809.hp1
NA19030.hp2
 intron_variant MODIFIER c.154+20069C>G
c.154+20069C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68412798
chrX:68412969 G
G
 A
A
 1 a0001c0001t0003g0101
a0001c0001t0003g0101
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.154+19898C>T
c.154+19898C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68412969
chrX:68413262 A
A
 G
G
 17 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(14): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0004g0026
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0008g0112
a0001c0001t0030g0155
 17 HG01891.hp2
HG02145.hp1
HG02486.hp1
others(14): Show 
HG01891.hp2
HG02145.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02647.hp1
HG02723.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02976.hp2
HG03098.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp1
 intron_variant MODIFIER c.154+19605T>C
c.154+19605T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68413262
chrX:68413270 T
T
 TG
TG
 1 a0001c0001t0001g0008
a0001c0001t0001g0008
 1 HG01346.hp1
HG01346.hp1
 intron_variant MODIFIER c.154+19596dupC
c.154+19596dupC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68413270
chrX:68413399 A
A
 G
G
 118 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(115): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 118 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(115): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp2
HG01928.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02683.hp1
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03130.hp1
HG03209.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.154+19468T>C
c.154+19468T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68413399
chrX:68413743 CA
CA
 C
C
 127 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(124): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 127 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(124): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp2
HG01928.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02683.hp1
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03130.hp1
HG03209.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.154+19123delT
c.154+19123delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68413743
chrX:68413980 G
G
 A
A
 1 a0001c0001t0004g0117
a0001c0001t0004g0117
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.154+18887C>T
c.154+18887C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68413980
chrX:68414068 G
G
 A
A
 1 a0001c0001t0001g0149
a0001c0001t0001g0149
 1 NA20805.hp1
NA20805.hp1
 intron_variant MODIFIER c.154+18799C>T
c.154+18799C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68414068
chrX:68414222 T
T
 C
C
 1 a0001c0001t0007g0033
a0001c0001t0007g0033
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.154+18645A>G
c.154+18645A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68414222
chrX:68414259 G
G
 A
A
 127 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(124): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 127 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(124): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp2
HG01928.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02683.hp1
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03130.hp1
HG03209.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.154+18608C>T
c.154+18608C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68414259
chrX:68414294 T
T
 C
C
 1 a0001c0001t0027g0072
a0001c0001t0027g0072
 1 HG00099.hp1
HG00099.hp1
 intron_variant MODIFIER c.154+18573A>G
c.154+18573A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68414294
chrX:68414466 C
C
 T
T
 2 a0001c0001t0018g0104
a0001c0001t0022g0103
a0001c0001t0018g0104
a0001c0001t0022g0103
 2 HG00280.hp1
HG01081.hp1
HG00280.hp1
HG01081.hp1
 intron_variant MODIFIER c.154+18401G>A
c.154+18401G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68414466
chrX:68414482 T
T
 C
C
 2 a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0105
a0001c0001t0006g0106
 2 HG02647.hp1
HG02886.hp2
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.154+18385A>G
c.154+18385A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68414482
chrX:68414516 C
C
 T
T
 15 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(12): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0004g0026
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0008g0112
a0001c0001t0030g0155
 15 HG01891.hp2
HG02145.hp1
HG02486.hp1
others(12): Show 
HG01891.hp2
HG02145.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02723.hp2
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02976.hp2
HG03098.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp1
 intron_variant MODIFIER c.154+18351G>A
c.154+18351G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68414516
chrX:68415064 C
C
 A
A
 1 a0001c0001t0005g0152
a0001c0001t0005g0152
 1 HG02630.hp2
HG02630.hp2
 intron_variant MODIFIER c.154+17803G>T
c.154+17803G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68415064
chrX:68415220 TG
TG
 T
T
 1 a0001c0001t0001g0073
a0001c0001t0001g0073
 1 NA19068.hp1
NA19068.hp1
 intron_variant MODIFIER c.154+17646delC
c.154+17646delC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68415220
chrX:68415338 CA
CA
 C
C
 1 a0001c0001t0001g0073
a0001c0001t0001g0073
 1 NA19068.hp1
NA19068.hp1
 intron_variant MODIFIER c.154+17528delT
c.154+17528delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68415338
chrX:68415493 GC
GC
 G
G
 1 a0001c0001t0001g0073
a0001c0001t0001g0073
 1 NA19068.hp1
NA19068.hp1
 intron_variant MODIFIER c.154+17373delG
c.154+17373delG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68415493
chrX:68415494 C
C
 T
T
 124 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(121): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 124 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(121): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp2
HG01928.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02683.hp1
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03130.hp1
HG03209.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.154+17373G>A
c.154+17373G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68415494
chrX:68415496 C
C
 T
T
 1 a0001c0001t0001g0073
a0001c0001t0001g0073
 1 NA19068.hp1
NA19068.hp1
 intron_variant MODIFIER c.154+17371G>A
c.154+17371G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68415496
chrX:68415648 TG
TG
 T
T
 1 a0001c0001t0001g0073
a0001c0001t0001g0073
 1 NA19068.hp1
NA19068.hp1
 intron_variant MODIFIER c.154+17218delC
c.154+17218delC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68415648
chrX:68415825 GC
GC
 G
G
 1 a0001c0001t0001g0073
a0001c0001t0001g0073
 1 NA19068.hp1
NA19068.hp1
 intron_variant MODIFIER c.154+17041delG
c.154+17041delG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68415825
chrX:68415830 C
C
 T
T
 15 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(12): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0004g0026
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0008g0112
a0001c0001t0030g0155
 15 HG01891.hp2
HG02145.hp1
HG02486.hp1
others(12): Show 
HG01891.hp2
HG02145.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02723.hp2
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02976.hp2
HG03098.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp1
 intron_variant MODIFIER c.154+17037G>A
c.154+17037G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68415830
chrX:68415896 TC
TC
 T
T
 1 a0001c0001t0001g0073
a0001c0001t0001g0073
 1 NA19068.hp1
NA19068.hp1
 intron_variant MODIFIER c.154+16970delG
c.154+16970delG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68415896
chrX:68415909 GGA
GGA
 G
G
 1 a0001c0001t0001g0073
a0001c0001t0001g0073
 1 NA19068.hp1
NA19068.hp1
 intron_variant MODIFIER c.154+16956_154+1695
others(6): Show 
c.154+16956_154+16957delTC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68415909
chrX:68415912 G
G
 A
A
 1 a0001c0001t0001g0073
a0001c0001t0001g0073
 1 NA19068.hp1
NA19068.hp1
 intron_variant MODIFIER c.154+16955C>T
c.154+16955C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68415912
chrX:68415949 AG
AG
 A
A
 1 a0001c0001t0001g0073
a0001c0001t0001g0073
 1 NA19068.hp1
NA19068.hp1
 intron_variant MODIFIER c.154+16917delC
c.154+16917delC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68415949
chrX:68415952 T
T
 C
C
 2 a0001c0001t0004g0004
a0001c0001t0019g0003
a0001c0001t0004g0004
a0001c0001t0019g0003
 2 HG02109.hp1
HG02809.hp2
HG02109.hp1
HG02809.hp2
 intron_variant MODIFIER c.154+16915A>G
c.154+16915A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68415952
chrX:68415970 G
G
 A
A
 1 a0001c0001t0002g0123
a0001c0001t0002g0123
 1 HG02027.hp1
HG02027.hp1
 intron_variant MODIFIER c.154+16897C>T
c.154+16897C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68415970
chrX:68416010 G
G
 A
A
 1 a0002c0002t0001g0002
a0002c0002t0001g0002
 1 HG01358.hp1
HG01358.hp1
 intron_variant MODIFIER c.154+16857C>T
c.154+16857C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68416010
chrX:68416014 C
C
 CA
CA
 1 a0001c0001t0001g0050
a0001c0001t0001g0050
 1 HG00609.hp1
HG00609.hp1
 intron_variant MODIFIER c.154+16852dupT
c.154+16852dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68416014
chrX:68416014 CA
CA
 C
C
 2 a0001c0001t0001g0073
a0001c0001t0020g0099
a0001c0001t0001g0073
a0001c0001t0020g0099
 2 HG00738.hp1
NA19068.hp1
HG00738.hp1
NA19068.hp1
 intron_variant MODIFIER c.154+16852delT
c.154+16852delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68416014
chrX:68416033 A
A
 ATATATAT
ATATATAT
 1 a0001c0001t0006g0105
a0001c0001t0006g0105
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.154+16833_154+1683
others(11): Show 
c.154+16833_154+16834insATATATA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68416033
chrX:68416033 AAT
AAT
 A
A
 1 a0001c0001t0003g0139
a0001c0001t0003g0139
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.154+16832_154+1683
others(6): Show 
c.154+16832_154+16833delAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68416033
chrX:68416033 AATAT
AATAT
 A
A
 5 a0001c0001t0001g0132
a0001c0001t0001g0145
a0001c0001t0002g0134
others(2): Show 
a0001c0001t0001g0132
a0001c0001t0001g0145
a0001c0001t0002g0134
a0001c0001t0005g0137
a0001c0001t0005g0138
 5 HG01069.hp1
HG02559.hp2
HG02818.hp1
others(2): Show 
HG01069.hp1
HG02559.hp2
HG02818.hp1
HG02976.hp1
NA18944.hp1
 intron_variant MODIFIER c.154+16830_154+1683
others(8): Show 
c.154+16830_154+16833delATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68416033
chrX:68416033 AATATAT
AATATAT
 A
A
 1 a0001c0001t0002g0144
a0001c0001t0002g0144
 1 HG02132.hp1
HG02132.hp1
 intron_variant MODIFIER c.154+16828_154+1683
others(10): Show 
c.154+16828_154+16833delATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68416033
chrX:68416033 AATATATA
others(7): Show 
AATATATATATATAT
 A
A
 1 a0001c0001t0003g0020
a0001c0001t0003g0020
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.154+16820_154+1683
others(18): Show 
c.154+16820_154+16833delATATATATATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68416033
chrX:68416033 AATATATA
others(9): Show 
AATATATATATATATAT
 A
A
 1 a0001c0001t0007g0033
a0001c0001t0007g0033
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.154+16818_154+1683
others(20): Show 
c.154+16818_154+16833delATATATATATATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68416033
chrX:68416043 TATATATA
others(31): Show 
TATATATATATATATATATATATATAGAGAGAGAGAGAG
 T
T
 1 a0001c0001t0013g0042
a0001c0001t0013g0042
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.154+16786_154+1682
others(42): Show 
c.154+16786_154+16823delCTCTCTCTCTCTCTATATATATATAT
ATATATATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68416043
chrX:68416045 TATATATA
others(31): Show 
TATATATATATATATATATATATAGAGAGAGAGAGAGAG
 T
T
 2 a0001c0001t0001g0093
a0001c0001t0026g0056
a0001c0001t0001g0093
a0001c0001t0026g0056
 2 HG00735.hp1
NA20905.hp1
HG00735.hp1
NA20905.hp1
 intron_variant MODIFIER c.154+16784_154+1682
others(42): Show 
c.154+16784_154+16821delCTCTCTCTCTCTCTCTATATATATAT
ATATATATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68416045
chrX:68416047 TATATATA
others(31): Show 
TATATATATATATATATATATAGAGAGAGAGAGAGAGAG
 T
T
 19 a0001c0001t0001g0015
a0001c0001t0001g0041
a0001c0001t0001g0043
others(16): Show 
a0001c0001t0001g0015
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0067
a0001c0001t0001g0071
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0088
a0001c0001t0001g0092
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0057
a0001c0001t0003g0065
a0001c0001t0003g0100
a0001c0001t0016g0119
a0001c0001t0024g0007
a0001c0001t0027g0072
a0001c0001t0029g0031
 19 HG00099.hp1
HG00642.hp1
HG01106.hp1
others(16): Show 
HG00099.hp1
HG00642.hp1
HG01106.hp1
HG01258.hp1
HG02056.hp1
HG02074.hp1
HG02615.hp2
HG02683.hp1
NA18747.hp1
NA18952.hp1
NA18960.hp1
NA18962.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19012.hp1
NA19088.hp1
NA20752.hp1
 intron_variant MODIFIER c.154+16782_154+1681
others(42): Show 
c.154+16782_154+16819delCTCTCTCTCTCTCTCTCTATATATAT
ATATATATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68416047
chrX:68416047 TATATATA
others(37): Show 
TATATATATATATATATATATAGAGAGAGAGAGAGAGAGAGAGAG
 T
T
 1 a0001c0001t0001g0080
a0001c0001t0001g0080
 1 HG03017.hp1
HG03017.hp1
 intron_variant MODIFIER c.154+16776_154+1681
others(48): Show 
c.154+16776_154+16819delCTCTCTCTCTCTCTCTCTCTCTCTAT
ATATATATATATATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68416047
chrX:68416049 TATATATA
others(15): Show 
TATATATATATATATATATAGAG
 T
T
 1 a0001c0001t0007g0032
a0001c0001t0007g0032
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.154+16796_154+1681
others(26): Show 
c.154+16796_154+16817delCTCTATATATATATATATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68416049
chrX:68416049 TATATATA
others(29): Show 
TATATATATATATATATATAGAGAGAGAGAGAGAGAG
 T
T
 1 a0001c0001t0001g0058
a0001c0001t0001g0058
 1 HG02129.hp1
HG02129.hp1
 intron_variant MODIFIER c.154+16782_154+1681
others(40): Show 
c.154+16782_154+16817delCTCTCTCTCTCTCTCTCTATATATAT
ATATATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68416049
chrX:68416049 TATATATA
others(31): Show 
TATATATATATATATATATAGAGAGAGAGAGAGAGAGAG
 T
T
 47 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
others(44): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0086
a0001c0001t0001g0090
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0002g0047
a0001c0001t0002g0055
a0001c0001t0002g0083
a0001c0001t0002g0123
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0011g0061
a0001c0001t0017g0036
a0001c0001t0025g0087
a0001c0001t0028g0084
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 47 HG00099.hp2
HG00140.hp1
HG00609.hp1
others(44): Show 
HG00099.hp2
HG00140.hp1
HG00609.hp1
HG00621.hp1
HG00673.hp1
HG01099.hp1
HG01169.hp2
HG01256.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp1
HG01928.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02071.hp1
HG02083.hp1
HG02602.hp1
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG03492.hp1
HG03688.hp1
HG03942.hp1
HG04199.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18955.hp1
NA18970.hp1
NA18971.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19009.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.154+16780_154+1681
others(42): Show 
c.154+16780_154+16817delCTCTCTCTCTCTCTCTCTCTATATAT
ATATATATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68416049
chrX:68416051 TATATATA
others(29): Show 
TATATATATATATATATAGAGAGAGAGAGAGAGAGAG
 T
T
 1 a0001c0001t0002g0054
a0001c0001t0002g0054
 1 NA18986.hp1
NA18986.hp1
 intron_variant MODIFIER c.154+16780_154+1681
others(40): Show 
c.154+16780_154+16815delCTCTCTCTCTCTCTCTCTCTATATAT
ATATATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68416051
chrX:68416051 TATATATA
others(31): Show 
TATATATATATATATATAGAGAGAGAGAGAGAGAGAGAG
 T
T
 9 a0001c0001t0001g0025
a0001c0001t0001g0040
a0001c0001t0001g0052
others(6): Show 
a0001c0001t0001g0025
a0001c0001t0001g0040
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0064
a0001c0001t0001g0082
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0023g0037
 9 HG01515.hp1
HG02135.hp1
HG02300.hp1
others(6): Show 
HG01515.hp1
HG02135.hp1
HG02300.hp1
HG03710.hp1
HG04115.hp1
HG04228.hp1
NA18965.hp1
NA18974.hp1
NA20805.hp1
 intron_variant MODIFIER c.154+16778_154+1681
others(42): Show 
c.154+16778_154+16815delCTCTCTCTCTCTCTCTCTCTCTATAT
ATATATATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68416051
chrX:68416053 TATATATA
others(9): Show 
TATATATATATATATAG
 T
T
 1 a0001c0001t0003g0018
a0001c0001t0003g0018
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.154+16798_154+1681
others(20): Show 
c.154+16798_154+16813delCTATATATATATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68416053
chrX:68416053 TATATATA
others(13): Show 
TATATATATATATATAGAGAG
 T
T
 2 a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0030
a0001c0001t0004g0034
 2 HG01081.hp2
HG02055.hp1
HG01081.hp2
HG02055.hp1
 intron_variant MODIFIER c.154+16794_154+1681
others(24): Show 
c.154+16794_154+16813delCTCTCTATATATATATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68416053
chrX:68416053 TATATATA
others(15): Show 
TATATATATATATATAGAGAGAG
 T
T
 1 a0001c0001t0008g0096
a0001c0001t0008g0096
 1 HG02257.hp1
HG02257.hp1
 intron_variant MODIFIER c.154+16792_154+1681
others(26): Show 
c.154+16792_154+16813delCTCTCTCTATATATATATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68416053
chrX:68416053 TATATATA
others(29): Show 
TATATATATATATATAGAGAGAGAGAGAGAGAGAGAG
 T
T
 1 a0001c0001t0003g0076
a0001c0001t0003g0076
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.154+16778_154+1681
others(40): Show 
c.154+16778_154+16813delCTCTCTCTCTCTCTCTCTCTCTATAT
ATATATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68416053
chrX:68416055 TATATATA
others(9): Show 
TATATATATATATAGAG
 T
T
 1 a0001c0001t0002g0019
a0001c0001t0002g0019
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.154+16796_154+1681
others(20): Show 
c.154+16796_154+16811delCTCTATATATATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68416055
chrX:68416055 TATATATA
others(17): Show 
TATATATATATATAGAGAGAGAGAG
 T
T
 1 a0001c0001t0004g0094
a0001c0001t0004g0094
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.154+16788_154+1681
others(28): Show 
c.154+16788_154+16811delCTCTCTCTCTCTATATATATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68416055
chrX:68416057 TATATATA
others(5): Show 
TATATATATATAG
 T
T
 3 a0001c0001t0002g0014
a0001c0001t0002g0127
a0001c0001t0002g0131
a0001c0001t0002g0014
a0001c0001t0002g0127
a0001c0001t0002g0131
 3 HG02965.hp1
HG03098.hp1
HG03540.hp1
HG02965.hp1
HG03098.hp1
HG03540.hp1
 intron_variant MODIFIER c.154+16798_154+1680
others(16): Show 
c.154+16798_154+16809delCTATATATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68416057
chrX:68416057 TATATATA
others(7): Show 
TATATATATATAGAG
 T
T
 2 a0001c0001t0002g0124
a0001c0001t0003g0151
a0001c0001t0002g0124
a0001c0001t0003g0151
 2 NA18522.hp1
NA18612.hp1
NA18522.hp1
NA18612.hp1
 intron_variant MODIFIER c.154+16796_154+1680
others(18): Show 
c.154+16796_154+16809delCTCTATATATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68416057
chrX:68416057 TATATATA
others(11): Show 
TATATATATATAGAGAGAG
 T
T
 1 a0001c0001t0004g0004
a0001c0001t0004g0004
 1 HG02109.hp1
HG02109.hp1
 intron_variant MODIFIER c.154+16792_154+1680
others(22): Show 
c.154+16792_154+16809delCTCTCTCTATATATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68416057
chrX:68416057 TATATATA
others(17): Show 
TATATATATATAGAGAGAGAGAGAG
 T
T
 1 a0001c0001t0004g0095
a0001c0001t0004g0095
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.154+16786_154+1680
others(28): Show 
c.154+16786_154+16809delCTCTCTCTCTCTCTATATATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68416057
chrX:68416057 TATATATA
others(21): Show 
TATATATATATAGAGAGAGAGAGAGAGAG
 T
T
 1 a0001c0001t0004g0005
a0001c0001t0004g0005
 1 HG00735.hp2
HG00735.hp2
 intron_variant MODIFIER c.154+16782_154+1680
others(32): Show 
c.154+16782_154+16809delCTCTCTCTCTCTCTCTCTATATATAT
AT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68416057
chrX:68416059 TATATATA
others(3): Show 
TATATATATAG
 T
T
 1 a0001c0001t0020g0099
a0001c0001t0020g0099
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.154+16798_154+1680
others(14): Show 
c.154+16798_154+16807delCTATATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68416059
chrX:68416059 TATATATA
others(5): Show 
TATATATATAGAG
 T
T
 9 a0001c0001t0002g0108
a0001c0001t0002g0115
a0001c0001t0002g0116
others(6): Show 
a0001c0001t0002g0108
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0130
a0001c0001t0003g0109
a0001c0001t0003g0118
a0001c0001t0005g0152
a0001c0001t0009g0129
a0001c0001t0021g0150
 9 HG01243.hp1
HG02145.hp1
HG02572.hp1
others(6): Show 
HG01243.hp1
HG02145.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp2
HG03139.hp1
HG03471.hp1
HG03516.hp2
HG03579.hp1
 intron_variant MODIFIER c.154+16796_154+1680
others(16): Show 
c.154+16796_154+16807delCTCTATATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68416059
chrX:68416059 TATATATA
others(7): Show 
TATATATATAGAGAG
 T
T
 3 a0001c0001t0002g0021
a0001c0001t0004g0026
a0001c0001t0007g0022
a0001c0001t0002g0021
a0001c0001t0004g0026
a0001c0001t0007g0022
 3 HG02257.hp2
NA18906.hp1
NA19030.hp2
HG02257.hp2
NA18906.hp1
NA19030.hp2
 intron_variant MODIFIER c.154+16794_154+1680
others(18): Show 
c.154+16794_154+16807delCTCTCTATATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68416059
chrX:68416059 TATATATA
others(9): Show 
TATATATATAGAGAGAG
 T
T
 1 a0001c0001t0002g0133
a0001c0001t0002g0133
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.154+16792_154+1680
others(20): Show 
c.154+16792_154+16807delCTCTCTCTATATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68416059
chrX:68416059 TATATATA
others(11): Show 
TATATATATAGAGAGAGAG
 T
T
 1 a0001c0001t0019g0003
a0001c0001t0019g0003
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.154+16790_154+1680
others(22): Show 
c.154+16790_154+16807delCTCTCTCTCTATATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68416059
chrX:68416059 TATATATA
others(15): Show 
TATATATATAGAGAGAGAGAGAG
 T
T
 1 a0001c0001t0003g0122
a0001c0001t0003g0122
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.154+16786_154+1680
others(26): Show 
c.154+16786_154+16807delCTCTCTCTCTCTCTATATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68416059
chrX:68416061 TATATATA
others(3): Show 
TATATATAGAG
 T
T
 1 a0001c0001t0002g0114
a0001c0001t0002g0114
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.154+16796_154+1680
others(14): Show 
c.154+16796_154+16805delCTCTATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68416061
chrX:68416061 TATATATA
others(5): Show 
TATATATAGAGAG
 T
T
 4 a0001c0001t0003g0113
a0001c0001t0004g0117
a0001c0001t0005g0107
others(1): Show 
a0001c0001t0003g0113
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0008g0112
 4 HG01891.hp2
HG02486.hp1
HG02723.hp2
others(1): Show 
HG01891.hp2
HG02486.hp1
HG02723.hp2
HG02818.hp2
 intron_variant MODIFIER c.154+16794_154+1680
others(16): Show 
c.154+16794_154+16805delCTCTCTATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68416061
chrX:68416061 TATATATA
others(7): Show 
TATATATAGAGAGAG
 T
T
 1 a0001c0001t0007g0023
a0001c0001t0007g0023
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.154+16792_154+1680
others(18): Show 
c.154+16792_154+16805delCTCTCTCTATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68416061
chrX:68416063 T
T
 G
G
 1 a0001c0001t0003g0139
a0001c0001t0003g0139
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.154+16804A>C
c.154+16804A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68416063
chrX:68416063 TATATAGA
others(3): Show 
TATATAGAGAG
 T
T
 1 a0001c0001t0003g0111
a0001c0001t0003g0111
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.154+16794_154+1680
others(14): Show 
c.154+16794_154+16803delCTCTCTATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68416063
chrX:68416063 TATATAGA
others(7): Show 
TATATAGAGAGAGAG
 T
T
 1 a0001c0001t0009g0128
a0001c0001t0009g0128
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.154+16790_154+1680
others(18): Show 
c.154+16790_154+16803delCTCTCTCTCTATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68416063
chrX:68416063 TATATAGA
others(9): Show 
TATATAGAGAGAGAGAG
 T
T
 1 a0001c0001t0018g0104
a0001c0001t0018g0104
 1 HG00280.hp1
HG00280.hp1
 intron_variant MODIFIER c.154+16788_154+1680
others(20): Show 
c.154+16788_154+16803delCTCTCTCTCTCTATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68416063
chrX:68416065 T
T
 G
G
 1 a0001c0001t0003g0139
a0001c0001t0003g0139
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.154+16802A>C
c.154+16802A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68416065
chrX:68416065 T
T
 TAG
TAG
 1 a0001c0001t0001g0146
a0001c0001t0001g0146
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.154+16801_154+1680
others(6): Show 
c.154+16801_154+16802insCT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68416065
chrX:68416065 TATAG
TATAG
 T
T
 1 a0001c0001t0001g0141
a0001c0001t0001g0141
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.154+16798_154+1680
others(8): Show 
c.154+16798_154+16801delCTAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68416065
chrX:68416065 TATAGAGA
others(1): Show 
TATAGAGAG
 T
T
 1 a0001c0001t0002g0125
a0001c0001t0002g0125
 1 HG01255.hp1
HG01255.hp1
 intron_variant MODIFIER c.154+16794_154+1680
others(12): Show 
c.154+16794_154+16801delCTCTCTAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68416065
chrX:68416065 TATAGAGA
others(3): Show 
TATAGAGAGAG
 T
T
 1 a0001c0001t0005g0110
a0001c0001t0005g0110
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.154+16792_154+1680
others(14): Show 
c.154+16792_154+16801delCTCTCTCTAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68416065
chrX:68416065 TATAGAGA
others(9): Show 
TATAGAGAGAGAGAGAG
 T
T
 1 a0001c0001t0022g0103
a0001c0001t0022g0103
 1 HG01081.hp1
HG01081.hp1
 intron_variant MODIFIER c.154+16786_154+1680
others(20): Show 
c.154+16786_154+16801delCTCTCTCTCTCTCTAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68416065
chrX:68416067 T
T
 G
G
 5 a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0002g0134
others(2): Show 
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0002g0134
a0001c0001t0003g0139
a0001c0001t0005g0138
 5 HG02258.hp1
HG02559.hp2
HG02683.hp2
others(2): Show 
HG02258.hp1
HG02559.hp2
HG02683.hp2
HG02976.hp1
NA18944.hp1
 intron_variant MODIFIER c.154+16800A>C
c.154+16800A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68416067
chrX:68416067 T
T
 TAGAG
TAGAG
 1 a0001c0001t0006g0105
a0001c0001t0006g0105
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.154+16796_154+1679
others(8): Show 
c.154+16796_154+16799dupCTCT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68416067
chrX:68416067 T
T
 TATATATA
others(9): Show 
TATATATATAGAGAGAG
 1 a0001c0001t0006g0106
a0001c0001t0006g0106
 1 HG02647.hp1
HG02647.hp1
 intron_variant MODIFIER c.154+16799_154+1680
others(20): Show 
c.154+16799_154+16800insCTCTCTCTATATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68416067
chrX:68416067 TAGAG
TAGAG
 T
T
 4 a0001c0001t0005g0136
a0001c0001t0006g0120
a0001c0001t0006g0121
others(1): Show 
a0001c0001t0005g0136
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0015g0148
 4 HG01167.hp1
HG01169.hp1
HG01943.hp1
others(1): Show 
HG01167.hp1
HG01169.hp1
HG01943.hp1
HG02717.hp1
 intron_variant MODIFIER c.154+16796_154+1679
others(8): Show 
c.154+16796_154+16799delCTCT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68416067
chrX:68416067 TAGAGAG
TAGAGAG
 T
T
 1 a0001c0001t0003g0101
a0001c0001t0003g0101
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.154+16794_154+1679
others(10): Show 
c.154+16794_154+16799delCTCTCT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68416067
chrX:68416067 TAGAGAGA
others(1): Show 
TAGAGAGAG
 T
T
 2 a0001c0001t0004g0010
a0001c0001t0006g0013
a0001c0001t0004g0010
a0001c0001t0006g0013
 2 HG02451.hp2
HG02630.hp1
HG02451.hp2
HG02630.hp1
 intron_variant MODIFIER c.154+16792_154+1679
others(12): Show 
c.154+16792_154+16799delCTCTCTCT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68416067
chrX:68416067 TAGAGAGA
others(3): Show 
TAGAGAGAGAG
 T
T
 5 a0001c0001t0001g0140
a0001c0001t0004g0011
a0001c0001t0004g0012
others(2): Show 
a0001c0001t0001g0140
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0030g0155
a0003c0004t0014g0102
 5 HG02280.hp2
HG02886.hp1
HG02895.hp1
others(2): Show 
HG02280.hp2
HG02886.hp1
HG02895.hp1
HG02922.hp2
NA18966.hp1
 intron_variant MODIFIER c.154+16790_154+1679
others(14): Show 
c.154+16790_154+16799delCTCTCTCTCT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68416067
chrX:68416067 TAGAGAGA
others(5): Show 
TAGAGAGAGAGAG
 T
T
 1 a0001c0001t0002g0126
a0001c0001t0002g0126
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.154+16788_154+1679
others(16): Show 
c.154+16788_154+16799delCTCTCTCTCTCT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68416067
chrX:68416067 TAGAGAGA
others(11): Show 
TAGAGAGAGAGAGAGAGAG
 T
T
 1 a0001c0001t0002g0135
a0001c0001t0002g0135
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.154+16782_154+1679
others(22): Show 
c.154+16782_154+16799delCTCTCTCTCTCTCTCTCT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68416067
chrX:68416069 G
G
 T
T
 1 a0001c0001t0001g0147
a0001c0001t0001g0147
 1 HG01934.hp1
HG01934.hp1
 intron_variant MODIFIER c.154+16798C>A
c.154+16798C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68416069
chrX:68416071 G
G
 T
T
 1 a0001c0001t0001g0147
a0001c0001t0001g0147
 1 HG01934.hp1
HG01934.hp1
 intron_variant MODIFIER c.154+16796C>A
c.154+16796C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68416071
chrX:68416073 G
G
 T
T
 1 a0001c0001t0006g0121
a0001c0001t0006g0121
 1 HG01167.hp1
HG01167.hp1
 intron_variant MODIFIER c.154+16794C>A
c.154+16794C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68416073
chrX:68416075 G
G
 T
T
 1 a0001c0001t0003g0101
a0001c0001t0003g0101
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.154+16792C>A
c.154+16792C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68416075
chrX:68416077 G
G
 T
T
 2 a0001c0001t0003g0101
a0001c0001t0006g0013
a0001c0001t0003g0101
a0001c0001t0006g0013
 2 HG02630.hp1
HG02723.hp1
HG02630.hp1
HG02723.hp1
 intron_variant MODIFIER c.154+16790C>A
c.154+16790C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68416077
chrX:68416079 G
G
 T
T
 5 a0001c0001t0001g0140
a0001c0001t0004g0011
a0001c0001t0004g0012
others(2): Show 
a0001c0001t0001g0140
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0030g0155
a0003c0004t0014g0102
 5 HG02280.hp2
HG02886.hp1
HG02895.hp1
others(2): Show 
HG02280.hp2
HG02886.hp1
HG02895.hp1
HG02922.hp2
NA18966.hp1
 intron_variant MODIFIER c.154+16788C>A
c.154+16788C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68416079
chrX:68416081 G
G
 T
T
 2 a0001c0001t0001g0140
a0003c0004t0014g0102
a0001c0001t0001g0140
a0003c0004t0014g0102
 2 HG02886.hp1
NA18966.hp1
HG02886.hp1
NA18966.hp1
 intron_variant MODIFIER c.154+16786C>A
c.154+16786C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68416081
chrX:68416294 TG
TG
 T
T
 1 a0001c0001t0001g0073
a0001c0001t0001g0073
 1 NA19068.hp1
NA19068.hp1
 intron_variant MODIFIER c.154+16572delC
c.154+16572delC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68416294
chrX:68416307 G
G
 A
A
 3 a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0020g0099
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0020g0099
 3 HG00738.hp1
HG01167.hp1
HG01169.hp1
HG00738.hp1
HG01167.hp1
HG01169.hp1
 intron_variant MODIFIER c.154+16560C>T
c.154+16560C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68416307
chrX:68416486 AC
AC
 A
A
 1 a0001c0001t0001g0073
a0001c0001t0001g0073
 1 NA19068.hp1
NA19068.hp1
 intron_variant MODIFIER c.154+16380delG
c.154+16380delG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68416486
chrX:68416510 TG
TG
 T
T
 1 a0001c0001t0001g0073
a0001c0001t0001g0073
 1 NA19068.hp1
NA19068.hp1
 intron_variant MODIFIER c.154+16356delC
c.154+16356delC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68416510
chrX:68416523 AC
AC
 A
A
 1 a0001c0001t0001g0073
a0001c0001t0001g0073
 1 NA19068.hp1
NA19068.hp1
 intron_variant MODIFIER c.154+16343delG
c.154+16343delG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68416523
chrX:68416532 T
T
 C
C
 15 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(12): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0004g0026
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0008g0112
a0001c0001t0030g0155
 15 HG01891.hp2
HG02145.hp1
HG02486.hp1
others(12): Show 
HG01891.hp2
HG02145.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02723.hp2
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02976.hp2
HG03098.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp1
 intron_variant MODIFIER c.154+16335A>G
c.154+16335A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68416532
chrX:68416569 GC
GC
 G
G
 1 a0001c0001t0001g0073
a0001c0001t0001g0073
 1 NA19068.hp1
NA19068.hp1
 intron_variant MODIFIER c.154+16297delG
c.154+16297delG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68416569
chrX:68416627 A
A
 T
T
 2 a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0006g0120
a0001c0001t0006g0121
 2 HG01167.hp1
HG01169.hp1
HG01167.hp1
HG01169.hp1
 intron_variant MODIFIER c.154+16240T>A
c.154+16240T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68416627
chrX:68416648 AC
AC
 A
A
 1 a0001c0001t0001g0073
a0001c0001t0001g0073
 1 NA19068.hp1
NA19068.hp1
 intron_variant MODIFIER c.154+16218delG
c.154+16218delG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68416648
chrX:68416880 C
C
 T
T
 15 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(12): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0004g0026
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0008g0112
a0001c0001t0030g0155
 15 HG01891.hp2
HG02145.hp1
HG02486.hp1
others(12): Show 
HG01891.hp2
HG02145.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02723.hp2
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02976.hp2
HG03098.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp1
 intron_variant MODIFIER c.154+15987G>A
c.154+15987G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68416880
chrX:68416948 AT
AT
 A
A
 1 a0001c0001t0001g0073
a0001c0001t0001g0073
 1 NA19068.hp1
NA19068.hp1
 intron_variant MODIFIER c.154+15918delA
c.154+15918delA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68416948
chrX:68416954 GA
GA
 G
G
 1 a0001c0001t0001g0073
a0001c0001t0001g0073
 1 NA19068.hp1
NA19068.hp1
 intron_variant MODIFIER c.154+15912delT
c.154+15912delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68416954
chrX:68416990 AG
AG
 A
A
 1 a0001c0001t0001g0073
a0001c0001t0001g0073
 1 NA19068.hp1
NA19068.hp1
 intron_variant MODIFIER c.154+15876delC
c.154+15876delC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68416990
chrX:68416997 G
G
 A
A
 3 a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
 3 HG00735.hp2
HG03209.hp1
HG03516.hp1
HG00735.hp2
HG03209.hp1
HG03516.hp1
 intron_variant MODIFIER c.154+15870C>T
c.154+15870C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68416997
chrX:68417075 A
A
 ATATT
ATATT
 1 a0001c0001t0006g0013
a0001c0001t0006g0013
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.154+15788_154+1579
others(8): Show 
c.154+15788_154+15791dupAATA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68417075
chrX:68417075 A
A
 ATATTTAT
others(1): Show 
ATATTTATT
 1 a0001c0001t0001g0132
a0001c0001t0001g0132
 1 HG01069.hp1
HG01069.hp1
 intron_variant MODIFIER c.154+15784_154+1579
others(12): Show 
c.154+15784_154+15791dupAATAAATA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68417075
chrX:68417075 ATATT
ATATT
 A
A
 14 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(11): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0004g0026
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0008g0112
 14 HG01891.hp2
HG02145.hp1
HG02486.hp1
others(11): Show 
HG01891.hp2
HG02145.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02723.hp2
HG02818.hp2
HG02922.hp1
HG02976.hp2
HG03098.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp1
 intron_variant MODIFIER c.154+15788_154+1579
others(8): Show 
c.154+15788_154+15791delAATA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68417075
chrX:68417075 ATATTTAT
others(1): Show 
ATATTTATT
 A
A
 91 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(88): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0123
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0122
a0001c0001t0004g0005
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 91 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(88): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02257.hp1
HG02300.hp1
HG02602.hp1
HG02615.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG03017.hp1
HG03130.hp1
HG03209.hp1
HG03492.hp1
HG03516.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.154+15784_154+1579
others(12): Show 
c.154+15784_154+15791delAATAAATA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68417075
chrX:68417367 TAGGCGTG
others(2): Show 
TAGGCGTGAG
 T
T
 1 a0001c0001t0001g0073
a0001c0001t0001g0073
 1 NA19068.hp1
NA19068.hp1
 intron_variant MODIFIER c.154+15491_154+1549
others(13): Show 
c.154+15491_154+15499delCTCACGCCT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68417367
chrX:68417372 G
G
 A
A
 2 a0001c0001t0001g0147
a0001c0001t0015g0148
a0001c0001t0001g0147
a0001c0001t0015g0148
 2 HG01934.hp1
HG01943.hp1
HG01934.hp1
HG01943.hp1
 intron_variant MODIFIER c.154+15495C>T
c.154+15495C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68417372
chrX:68417480 C
C
 T
T
 6 a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0003g0018
others(3): Show 
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0007g0022
a0001c0001t0007g0023
 6 HG02109.hp2
HG02257.hp2
HG02280.hp1
others(3): Show 
HG02109.hp2
HG02257.hp2
HG02280.hp1
HG02559.hp1
HG02809.hp1
NA19030.hp2
 intron_variant MODIFIER c.154+15387G>A
c.154+15387G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68417480
chrX:68417825 A
A
 T
T
 1 a0001c0001t0022g0103
a0001c0001t0022g0103
 1 HG01081.hp1
HG01081.hp1
 intron_variant MODIFIER c.154+15042T>A
c.154+15042T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68417825
chrX:68417848 G
G
 A
A
 6 a0001c0001t0003g0101
a0001c0001t0004g0010
a0001c0001t0004g0011
others(3): Show 
a0001c0001t0003g0101
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0006g0013
a0003c0004t0014g0102
 6 HG02280.hp2
HG02451.hp2
HG02630.hp1
others(3): Show 
HG02280.hp2
HG02451.hp2
HG02630.hp1
HG02723.hp1
HG02886.hp1
HG02922.hp2
 intron_variant MODIFIER c.154+15019C>T
c.154+15019C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68417848
chrX:68417914 C
C
 T
T
 14 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(11): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0004g0026
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0008g0112
 14 HG01891.hp2
HG02145.hp1
HG02486.hp1
others(11): Show 
HG01891.hp2
HG02145.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02723.hp2
HG02818.hp2
HG02922.hp1
HG02976.hp2
HG03098.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp1
 intron_variant MODIFIER c.154+14953G>A
c.154+14953G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68417914
chrX:68418083 G
G
 C
C
 1 a0001c0001t0004g0026
a0001c0001t0004g0026
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.154+14784C>G
c.154+14784C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68418083
chrX:68418193 GAAGATCC
others(2): Show 
GAAGATCCAA
 G
G
 2 a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0080
a0001c0001t0001g0082
 2 HG03017.hp1
HG03710.hp1
HG03017.hp1
HG03710.hp1
 intron_variant MODIFIER c.154+14665_154+1467
others(13): Show 
c.154+14665_154+14673delTTGGATCTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68418193
chrX:68418270 C
C
 A
A
 14 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(11): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0004g0026
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0008g0112
 14 HG01891.hp2
HG02145.hp1
HG02486.hp1
others(11): Show 
HG01891.hp2
HG02145.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02723.hp2
HG02818.hp2
HG02922.hp1
HG02976.hp2
HG03098.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp1
 intron_variant MODIFIER c.154+14597G>T
c.154+14597G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68418270
chrX:68418312 T
T
 C
C
 1 a0001c0001t0002g0133
a0001c0001t0002g0133
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.154+14555A>G
c.154+14555A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68418312
chrX:68418371 T
T
 A
A
 14 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(11): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0004g0026
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0008g0112
 14 HG01891.hp2
HG02145.hp1
HG02486.hp1
others(11): Show 
HG01891.hp2
HG02145.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02723.hp2
HG02818.hp2
HG02922.hp1
HG02976.hp2
HG03098.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp1
 intron_variant MODIFIER c.154+14496A>T
c.154+14496A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68418371
chrX:68418544 CA
CA
 C
C
 1 a0001c0001t0001g0073
a0001c0001t0001g0073
 1 NA19068.hp1
NA19068.hp1
 intron_variant MODIFIER c.154+14322delT
c.154+14322delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68418544
chrX:68418701 T
T
 C
C
 2 a0001c0001t0004g0004
a0001c0001t0019g0003
a0001c0001t0004g0004
a0001c0001t0019g0003
 2 HG02109.hp1
HG02809.hp2
HG02109.hp1
HG02809.hp2
 intron_variant MODIFIER c.154+14166A>G
c.154+14166A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68418701
chrX:68418926 AT
AT
 A
A
 3 a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0028g0084
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0028g0084
 3 NA18955.hp1
NA18970.hp1
NA19070.hp1
NA18955.hp1
NA18970.hp1
NA19070.hp1
 intron_variant MODIFIER c.154+13940delA
c.154+13940delA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68418926
chrX:68418932 G
G
 A
A
 3 a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0028g0084
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0028g0084
 3 NA18955.hp1
NA18970.hp1
NA19070.hp1
NA18955.hp1
NA18970.hp1
NA19070.hp1
 intron_variant MODIFIER c.154+13935C>T
c.154+13935C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68418932
chrX:68418982 CT
CT
 C
C
 1 a0001c0001t0001g0073
a0001c0001t0001g0073
 1 NA19068.hp1
NA19068.hp1
 intron_variant MODIFIER c.154+13884delA
c.154+13884delA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68418982
chrX:68419157 G
G
 C
C
 1 a0001c0001t0002g0127
a0001c0001t0002g0127
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.154+13710C>G
c.154+13710C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68419157
chrX:68419206 G
G
 T
T
 1 a0001c0001t0003g0081
a0001c0001t0003g0081
 1 HG03492.hp1
HG03492.hp1
 intron_variant MODIFIER c.154+13661C>A
c.154+13661C>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68419206
chrX:68419261 G
G
 A
A
 3 a0001c0001t0001g0154
a0001c0001t0002g0057
a0001c0001t0024g0007
a0001c0001t0001g0154
a0001c0001t0002g0057
a0001c0001t0024g0007
 3 NA19000.hp1
NA19005.hp1
NA19012.hp1
NA19000.hp1
NA19005.hp1
NA19012.hp1
 intron_variant MODIFIER c.154+13606C>T
c.154+13606C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68419261
chrX:68419351 T
T
 C
C
 125 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(122): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 125 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(122): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp2
HG01928.hp1
HG01952.hp1
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02683.hp1
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03130.hp1
HG03209.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.154+13516A>G
c.154+13516A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68419351
chrX:68419354 A
A
 G
G
 6 a0001c0001t0003g0101
a0001c0001t0004g0010
a0001c0001t0004g0011
others(3): Show 
a0001c0001t0003g0101
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0006g0013
a0003c0004t0014g0102
 6 HG02280.hp2
HG02451.hp2
HG02630.hp1
others(3): Show 
HG02280.hp2
HG02451.hp2
HG02630.hp1
HG02723.hp1
HG02886.hp1
HG02922.hp2
 intron_variant MODIFIER c.154+13513T>C
c.154+13513T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68419354
chrX:68419538 A
A
 AT
AT
 79 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(76): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0021
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0101
a0001c0001t0006g0013
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 79 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(76): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00642.hp1
HG00735.hp1
HG01081.hp1
HG01099.hp1
HG01169.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01952.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02257.hp2
HG02300.hp1
HG02602.hp1
HG02615.hp2
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG03017.hp1
HG03492.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19056.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.154+13328dupA
c.154+13328dupA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68419538
chrX:68419538 A
A
 ATT
ATT
 3 a0001c0001t0001g0086
a0001c0001t0002g0047
a0001c0001t0003g0076
a0001c0001t0001g0086
a0001c0001t0002g0047
a0001c0001t0003g0076
 3 HG00673.hp1
HG01192.hp1
NA19060.hp1
HG00673.hp1
HG01192.hp1
NA19060.hp1
 intron_variant MODIFIER c.154+13327_154+1332
others(6): Show 
c.154+13327_154+13328dupAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68419538
chrX:68419538 AT
AT
 A
A
 8 a0001c0001t0001g0132
a0001c0001t0002g0019
a0001c0001t0003g0122
others(5): Show 
a0001c0001t0001g0132
a0001c0001t0002g0019
a0001c0001t0003g0122
a0001c0001t0004g0005
a0001c0001t0004g0034
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
 8 HG00735.hp2
HG01069.hp1
HG02055.hp1
others(5): Show 
HG00735.hp2
HG01069.hp1
HG02055.hp1
HG02109.hp2
HG02257.hp1
HG03130.hp1
NA19030.hp1
NA19043.hp1
 intron_variant MODIFIER c.154+13328delA
c.154+13328delA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68419538
chrX:68419538 ATT
ATT
 A
A
 3 a0001c0001t0004g0030
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0004g0030
a0001c0001t0006g0105
a0001c0001t0006g0106
 3 HG01081.hp2
HG02647.hp1
HG02886.hp2
HG01081.hp2
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.154+13327_154+1332
others(6): Show 
c.154+13327_154+13328delAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68419538
chrX:68419635 G
G
 C
C
 2 a0001c0001t0018g0104
a0001c0001t0022g0103
a0001c0001t0018g0104
a0001c0001t0022g0103
 2 HG00280.hp1
HG01081.hp1
HG00280.hp1
HG01081.hp1
 intron_variant MODIFIER c.154+13232C>G
c.154+13232C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68419635
chrX:68419939 AT
AT
 A
A
 1 a0001c0001t0001g0058
a0001c0001t0001g0058
 1 HG02129.hp1
HG02129.hp1
 intron_variant MODIFIER c.154+12927delA
c.154+12927delA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68419939
chrX:68420159 C
C
 T
T
 89 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(86): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0122
a0001c0001t0004g0005
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 89 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(86): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01952.hp1
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02257.hp1
HG02300.hp1
HG02602.hp1
HG02615.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG03017.hp1
HG03130.hp1
HG03209.hp1
HG03492.hp1
HG03516.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.154+12708G>A
c.154+12708G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68420159
chrX:68420178 A
A
 G
G
 104 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(101): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0004g0005
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 104 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(101): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp2
HG01928.hp1
HG01952.hp1
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp1
HG02300.hp1
HG02486.hp1
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02683.hp1
HG02698.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03130.hp1
HG03209.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.154+12689T>C
c.154+12689T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68420178
chrX:68420515 A
A
 G
G
 15 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(12): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0004g0026
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0008g0112
a0001c0001t0030g0155
 15 HG01891.hp2
HG02145.hp1
HG02486.hp1
others(12): Show 
HG01891.hp2
HG02145.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02723.hp2
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02976.hp2
HG03098.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp1
 intron_variant MODIFIER c.154+12352T>C
c.154+12352T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68420515
chrX:68420637 AT
AT
 A
A
 1 a0001c0001t0001g0073
a0001c0001t0001g0073
 1 NA19068.hp1
NA19068.hp1
 intron_variant MODIFIER c.154+12229delA
c.154+12229delA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68420637
chrX:68420707 C
C
 A
A
 5 a0001c0001t0001g0016
a0001c0001t0001g0039
a0001c0001t0001g0046
others(2): Show 
a0001c0001t0001g0016
a0001c0001t0001g0039
a0001c0001t0001g0046
a0001c0001t0001g0059
a0001c0001t0001g0074
 5 HG01256.hp1
HG01258.hp1
HG01261.hp1
others(2): Show 
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01928.hp1
HG02698.hp1
 intron_variant MODIFIER c.154+12160G>T
c.154+12160G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68420707
chrX:68420847 G
G
 GA
GA
 23 a0001c0001t0001g0060
a0001c0001t0001g0090
a0001c0001t0002g0014
others(20): Show 
a0001c0001t0001g0060
a0001c0001t0001g0090
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0123
a0001c0001t0002g0130
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0004g0026
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0007g0032
a0001c0001t0008g0112
a0001c0001t0018g0104
a0001c0001t0022g0103
a0001c0001t0030g0155
 23 HG00280.hp1
HG01081.hp1
HG01433.hp1
others(20): Show 
HG00280.hp1
HG01081.hp1
HG01433.hp1
HG01891.hp2
HG02015.hp1
HG02027.hp1
HG02145.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02723.hp2
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp1
 intron_variant MODIFIER c.154+12019dupT
c.154+12019dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68420847
chrX:68420847 G
G
 GAA
GAA
 2 a0001c0001t0004g0004
a0001c0001t0019g0003
a0001c0001t0004g0004
a0001c0001t0019g0003
 2 HG02109.hp1
HG02809.hp2
HG02109.hp1
HG02809.hp2
 intron_variant MODIFIER c.154+12018_154+1201
others(6): Show 
c.154+12018_154+12019dupTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68420847
chrX:68420847 GA
GA
 G
G
 29 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0029
others(26): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0029
a0001c0001t0001g0040
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0075
a0001c0001t0001g0086
a0001c0001t0002g0006
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0083
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0020g0099
a0004c0005t0012g0024
 29 HG00609.hp1
HG00621.hp1
HG00673.hp1
others(26): Show 
HG00609.hp1
HG00621.hp1
HG00673.hp1
HG00738.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01952.hp1
HG02074.hp1
HG02109.hp2
HG02257.hp2
HG02280.hp1
HG02559.hp1
HG02647.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG02886.hp2
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18965.hp1
NA18971.hp1
NA18977.hp1
NA18988.hp1
NA18990.hp1
NA19004.hp1
NA19030.hp2
NA19060.hp1
 intron_variant MODIFIER c.154+12019delT
c.154+12019delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68420847
chrX:68421094 G
G
 A
A
 1 a0001c0001t0002g0116
a0001c0001t0002g0116
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.154+11773C>T
c.154+11773C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68421094
chrX:68421229 G
G
 C
C
 2 a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0105
a0001c0001t0006g0106
 2 HG02647.hp1
HG02886.hp2
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.154+11638C>G
c.154+11638C>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68421229
chrX:68421465 GT
GT
 G
G
 1 a0001c0001t0011g0061
a0001c0001t0011g0061
 1 NA18982.hp1
NA18982.hp1
 intron_variant MODIFIER c.154+11401delA
c.154+11401delA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68421465
chrX:68421758 A
A
 G
G
 89 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(86): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0122
a0001c0001t0004g0005
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 89 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(86): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01952.hp1
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02257.hp1
HG02300.hp1
HG02602.hp1
HG02615.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG03017.hp1
HG03130.hp1
HG03209.hp1
HG03492.hp1
HG03516.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.154+11109T>C
c.154+11109T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68421758
chrX:68422087 T
T
 C
C
 2 a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0105
a0001c0001t0006g0106
 2 HG02647.hp1
HG02886.hp2
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.154+10780A>G
c.154+10780A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68422087
chrX:68422359 C
C
 T
T
 15 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(12): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0004g0026
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0008g0112
a0001c0001t0030g0155
 15 HG01891.hp2
HG02145.hp1
HG02486.hp1
others(12): Show 
HG01891.hp2
HG02145.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02723.hp2
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02976.hp2
HG03098.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp1
 intron_variant MODIFIER c.154+10508G>A
c.154+10508G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68422359
chrX:68422618 G
G
 GAGAA
GAGAA
 99 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(96): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0006g0013
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 99 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(96): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01952.hp1
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02135.hp1
HG02257.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02886.hp1
HG02922.hp2
HG03017.hp1
HG03130.hp1
HG03209.hp1
HG03492.hp1
HG03516.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.154+10245_154+1024
others(8): Show 
c.154+10245_154+10248dupTTCT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68422618
chrX:68422631 A
A
 AGAAAAAG
others(1): Show 
AGAAAAAGG
 15 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(12): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0004g0026
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0008g0112
a0001c0001t0030g0155
 15 HG01891.hp2
HG02145.hp1
HG02486.hp1
others(12): Show 
HG01891.hp2
HG02145.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02723.hp2
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02976.hp2
HG03098.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp1
 intron_variant MODIFIER c.154+10235_154+1023
others(12): Show 
c.154+10235_154+10236insCCTTTTTC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68422631
chrX:68422632 A
A
 G
G
 2 a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0105
a0001c0001t0006g0106
 2 HG02647.hp1
HG02886.hp2
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.154+10235T>C
c.154+10235T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68422632
chrX:68422634 G
G
 A
A
 2 a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0105
a0001c0001t0006g0106
 2 HG02647.hp1
HG02886.hp2
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.154+10233C>T
c.154+10233C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68422634
chrX:68422635 G
G
 A
A
 2 a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0105
a0001c0001t0006g0106
 2 HG02647.hp1
HG02886.hp2
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.154+10232C>T
c.154+10232C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68422635
chrX:68422709 G
G
 GAA
GAA
 15 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(12): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0004g0026
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0008g0112
a0001c0001t0030g0155
 15 HG01891.hp2
HG02145.hp1
HG02486.hp1
others(12): Show 
HG01891.hp2
HG02145.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02723.hp2
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02976.hp2
HG03098.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp1
 intron_variant MODIFIER c.154+10157_154+1015
others(6): Show 
c.154+10157_154+10158insTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68422709
chrX:68422709 G
G
 GAGAA
GAGAA
 1 a0001c0001t0001g0062
a0001c0001t0001g0062
 1 NA19009.hp1
NA19009.hp1
 intron_variant MODIFIER c.154+10154_154+1015
others(8): Show 
c.154+10154_154+10157dupTTCT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68422709
chrX:68422711 GAA
GAA
 G
G
 1 a0001c0001t0017g0036
a0001c0001t0017g0036
 1 HG01952.hp1
HG01952.hp1
 intron_variant MODIFIER c.154+10154_154+1015
others(6): Show 
c.154+10154_154+10155delTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68422711
chrX:68422715 G
G
 GA
GA
 14 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(11): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0004g0026
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0008g0112
 14 HG01891.hp2
HG02145.hp1
HG02486.hp1
others(11): Show 
HG01891.hp2
HG02145.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02723.hp2
HG02818.hp2
HG02922.hp1
HG02976.hp2
HG03098.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp1
 intron_variant MODIFIER c.154+10151dupT
c.154+10151dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68422715
chrX:68422716 A
A
 AAAAGG
AAAAGG
 1 a0001c0001t0030g0155
a0001c0001t0030g0155
 1 HG02895.hp1
HG02895.hp1
 intron_variant MODIFIER c.154+10150_154+1015
others(9): Show 
c.154+10150_154+10151insCCTTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68422716
chrX:68422716 AAAGAAAG
others(1): Show 
AAAGAAAGG
 A
A
 1 a0001c0001t0003g0063
a0001c0001t0003g0063
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.154+10143_154+1015
others(12): Show 
c.154+10143_154+10150delCCTTTCTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68422716
chrX:68422720 A
A
 AAAGG
AAAGG
 1 a0001c0001t0002g0133
a0001c0001t0002g0133
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.154+10143_154+1014
others(8): Show 
c.154+10143_154+10146dupCCTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68422720
chrX:68422720 A
A
 G
G
 15 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(12): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0004g0026
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0008g0112
a0001c0001t0030g0155
 15 HG01891.hp2
HG02145.hp1
HG02486.hp1
others(12): Show 
HG01891.hp2
HG02145.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02723.hp2
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02976.hp2
HG03098.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp1
 intron_variant MODIFIER c.154+10147T>C
c.154+10147T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68422720
chrX:68422720 AAAGG
AAAGG
 A
A
 14 a0001c0001t0003g0101
a0001c0001t0003g0122
a0001c0001t0003g0151
others(11): Show 
a0001c0001t0003g0101
a0001c0001t0003g0122
a0001c0001t0003g0151
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0006g0013
a0001c0001t0006g0106
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0003c0004t0014g0102
 14 HG01081.hp2
HG02055.hp1
HG02257.hp1
others(11): Show 
HG01081.hp2
HG02055.hp1
HG02257.hp1
HG02280.hp2
HG02451.hp2
HG02630.hp1
HG02647.hp1
HG02723.hp1
HG02886.hp1
HG02922.hp2
HG03130.hp1
NA18522.hp1
NA19030.hp1
NA19043.hp1
 intron_variant MODIFIER c.154+10143_154+1014
others(8): Show 
c.154+10143_154+10146delCCTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68422720
chrX:68422720 AAAGGAAG
others(1): Show 
AAAGGAAGG
 A
A
 4 a0001c0001t0004g0004
a0001c0001t0018g0104
a0001c0001t0019g0003
others(1): Show 
a0001c0001t0004g0004
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0022g0103
 4 HG00280.hp1
HG01081.hp1
HG02109.hp1
others(1): Show 
HG00280.hp1
HG01081.hp1
HG02109.hp1
HG02809.hp2
 intron_variant MODIFIER c.154+10139_154+1014
others(12): Show 
c.154+10139_154+10146delCCTTCCTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68422720
chrX:68422724 G
G
 A
A
 81 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(78): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0003g0035
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 81 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(78): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01952.hp1
HG02015.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02300.hp1
HG02602.hp1
HG02615.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG03017.hp1
HG03209.hp1
HG03492.hp1
HG03516.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04228.hp1
NA18747.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.154+10143C>T
c.154+10143C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68422724
chrX:68422770 G
G
 GAAGA
GAAGA
 90 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(87): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0122
a0001c0001t0004g0005
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0020g0099
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 90 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(87): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01952.hp1
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02257.hp1
HG02300.hp1
HG02602.hp1
HG02615.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG03017.hp1
HG03130.hp1
HG03492.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.154+10093_154+1009
others(8): Show 
c.154+10093_154+10096dupTCTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68422770
chrX:68422783 G
G
 A
A
 20 a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0003g0018
others(17): Show 
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0101
a0001c0001t0004g0004
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0022g0103
a0003c0004t0014g0102
 20 HG00280.hp1
HG01081.hp1
HG02109.hp1
others(17): Show 
HG00280.hp1
HG01081.hp1
HG02109.hp1
HG02109.hp2
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02630.hp1
HG02647.hp1
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp2
HG03209.hp1
HG03516.hp1
NA19030.hp2
 intron_variant MODIFIER c.154+10084C>T
c.154+10084C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68422783
chrX:68422786 AGAGG
AGAGG
 A
A
 6 a0001c0001t0003g0101
a0001c0001t0004g0010
a0001c0001t0004g0011
others(3): Show 
a0001c0001t0003g0101
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0006g0013
a0003c0004t0014g0102
 6 HG02280.hp2
HG02451.hp2
HG02630.hp1
others(3): Show 
HG02280.hp2
HG02451.hp2
HG02630.hp1
HG02723.hp1
HG02886.hp1
HG02922.hp2
 intron_variant MODIFIER c.154+10077_154+1008
others(8): Show 
c.154+10077_154+10080delCCTC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68422786
chrX:68422790 G
G
 A
A
 14 a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0003g0018
others(11): Show 
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0004g0004
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0022g0103
 14 HG00280.hp1
HG01081.hp1
HG02109.hp1
others(11): Show 
HG00280.hp1
HG01081.hp1
HG02109.hp1
HG02109.hp2
HG02257.hp2
HG02280.hp1
HG02559.hp1
HG02647.hp1
HG02809.hp1
HG02809.hp2
HG02886.hp2
HG03209.hp1
HG03516.hp1
NA19030.hp2
 intron_variant MODIFIER c.154+10077C>T
c.154+10077C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68422790
chrX:68422794 G
G
 A
A
 6 a0001c0001t0003g0101
a0001c0001t0004g0010
a0001c0001t0004g0011
others(3): Show 
a0001c0001t0003g0101
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0006g0013
a0003c0004t0014g0102
 6 HG02280.hp2
HG02451.hp2
HG02630.hp1
others(3): Show 
HG02280.hp2
HG02451.hp2
HG02630.hp1
HG02723.hp1
HG02886.hp1
HG02922.hp2
 intron_variant MODIFIER c.154+10073C>T
c.154+10073C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68422794
chrX:68422850 GAAAAGAA
others(5): Show 
GAAAAGAAAAGAA
 G
G
 2 a0001c0001t0017g0036
a0004c0005t0012g0024
a0001c0001t0017g0036
a0004c0005t0012g0024
 2 HG01169.hp2
HG01952.hp1
HG01169.hp2
HG01952.hp1
 intron_variant MODIFIER c.154+10005_154+1001
others(16): Show 
c.154+10005_154+10016delTTCTTTTCTTTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68422850
chrX:68423014 CTTTCTTT
others(11): Show 
CTTTCTTTTTTTTTTTTTT
 C
C
 86 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(83): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0122
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 86 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(83): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01952.hp1
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02257.hp1
HG02300.hp1
HG02602.hp1
HG02615.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG03017.hp1
HG03130.hp1
HG03492.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.154+9835_154+9852d
others(20): Show 
c.154+9835_154+9852delAAAAAAAAAAAAAAGAAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68423014
chrX:68423018 C
C
 CT
CT
 23 a0001c0001t0001g0140
a0001c0001t0002g0019
a0001c0001t0002g0021
others(20): Show 
a0001c0001t0001g0140
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0123
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0020g0099
a0003c0004t0014g0102
 23 HG00735.hp2
HG00738.hp1
HG01167.hp1
others(20): Show 
HG00735.hp2
HG00738.hp1
HG01167.hp1
HG01169.hp1
HG02027.hp1
HG02109.hp2
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02723.hp1
HG02809.hp1
HG02886.hp1
HG02886.hp2
HG02922.hp2
HG03209.hp1
HG03516.hp1
NA18966.hp1
NA19030.hp2
 intron_variant MODIFIER c.154+9848dupA
c.154+9848dupA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68423018
chrX:68423018 C
C
 CTT
CTT
 2 a0001c0001t0018g0104
a0001c0001t0022g0103
a0001c0001t0018g0104
a0001c0001t0022g0103
 2 HG00280.hp1
HG01081.hp1
HG00280.hp1
HG01081.hp1
 intron_variant MODIFIER c.154+9847_154+9848d
others(4): Show 
c.154+9847_154+9848dupAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68423018
chrX:68423018 CT
CT
 C
C
 1 a0001c0001t0021g0150
a0001c0001t0021g0150
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.154+9848delA
c.154+9848delA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68423018
chrX:68423189 C
C
 G
G
 15 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(12): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0004g0026
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0008g0112
a0001c0001t0030g0155
 15 HG01891.hp2
HG02145.hp1
HG02486.hp1
others(12): Show 
HG01891.hp2
HG02145.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02723.hp2
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02976.hp2
HG03098.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp1
 intron_variant MODIFIER c.154+9678G>C
c.154+9678G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68423189
chrX:68423258 C
C
 G
G
 15 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(12): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0004g0026
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0008g0112
a0001c0001t0030g0155
 15 HG01891.hp2
HG02145.hp1
HG02486.hp1
others(12): Show 
HG01891.hp2
HG02145.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02723.hp2
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02976.hp2
HG03098.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp1
 intron_variant MODIFIER c.154+9609G>C
c.154+9609G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68423258
chrX:68423271 C
C
 T
T
 1 a0001c0001t0001g0140
a0001c0001t0001g0140
 1 NA18966.hp1
NA18966.hp1
 intron_variant MODIFIER c.154+9596G>A
c.154+9596G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68423271
chrX:68423322 G
G
 A
A
 2 a0001c0001t0018g0104
a0001c0001t0022g0103
a0001c0001t0018g0104
a0001c0001t0022g0103
 2 HG00280.hp1
HG01081.hp1
HG00280.hp1
HG01081.hp1
 intron_variant MODIFIER c.154+9545C>T
c.154+9545C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68423322
chrX:68423439 G
G
 GT
GT
 5 a0001c0001t0001g0062
a0001c0001t0001g0086
a0001c0001t0001g0098
others(2): Show 
a0001c0001t0001g0062
a0001c0001t0001g0086
a0001c0001t0001g0098
a0001c0001t0002g0108
a0001c0001t0003g0065
 5 HG02615.hp2
HG03516.hp2
NA18955.hp1
others(2): Show 
HG02615.hp2
HG03516.hp2
NA18955.hp1
NA19009.hp1
NA19060.hp1
 intron_variant MODIFIER c.154+9427dupA
c.154+9427dupA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68423439
chrX:68423439 GT
GT
 G
G
 3 a0001c0001t0004g0094
a0001c0001t0004g0095
a0002c0002t0003g0001
a0001c0001t0004g0094
a0001c0001t0004g0095
a0002c0002t0003g0001
 3 HG03209.hp1
HG03516.hp1
homoSapiens_chm13v2.hp1
HG03209.hp1
HG03516.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.154+9427delA
c.154+9427delA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68423439
chrX:68423689 T
T
 G
G
 15 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(12): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0004g0026
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0008g0112
a0001c0001t0030g0155
 15 HG01891.hp2
HG02145.hp1
HG02486.hp1
others(12): Show 
HG01891.hp2
HG02145.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02723.hp2
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02976.hp2
HG03098.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp1
 intron_variant MODIFIER c.154+9178A>C
c.154+9178A>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68423689
chrX:68423768 T
T
 C
C
 2 a0001c0001t0004g0004
a0001c0001t0019g0003
a0001c0001t0004g0004
a0001c0001t0019g0003
 2 HG02109.hp1
HG02809.hp2
HG02109.hp1
HG02809.hp2
 intron_variant MODIFIER c.154+9099A>G
c.154+9099A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68423768
chrX:68424168 A
A
 G
G
 89 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(86): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0122
a0001c0001t0004g0005
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 89 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(86): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01952.hp1
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02257.hp1
HG02300.hp1
HG02602.hp1
HG02615.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG03017.hp1
HG03130.hp1
HG03209.hp1
HG03492.hp1
HG03516.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.154+8699T>C
c.154+8699T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68424168
chrX:68424195 TA
TA
 T
T
 97 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(94): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0006g0013
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0019g0003
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 97 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(94): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01952.hp1
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02135.hp1
HG02257.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02886.hp1
HG02922.hp2
HG03017.hp1
HG03130.hp1
HG03209.hp1
HG03492.hp1
HG03516.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.154+8671delT
c.154+8671delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68424195
chrX:68424287 T
T
 C
C
 1 a0001c0001t0003g0122
a0001c0001t0003g0122
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.154+8580A>G
c.154+8580A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68424287
chrX:68424334 C
C
 T
T
 1 a0001c0001t0003g0151
a0001c0001t0003g0151
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.154+8533G>A
c.154+8533G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68424334
chrX:68424450 T
T
 C
C
 1 a0001c0001t0001g0149
a0001c0001t0001g0149
 1 NA20805.hp1
NA20805.hp1
 intron_variant MODIFIER c.154+8417A>G
c.154+8417A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68424450
chrX:68424472 T
T
 C
C
 3 a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0005
a0001c0001t0004g0094
a0001c0001t0004g0095
 3 HG00735.hp2
HG03209.hp1
HG03516.hp1
HG00735.hp2
HG03209.hp1
HG03516.hp1
 intron_variant MODIFIER c.154+8395A>G
c.154+8395A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68424472
chrX:68424683 T
T
 C
C
 2 a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0105
a0001c0001t0006g0106
 2 HG02647.hp1
HG02886.hp2
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.154+8184A>G
c.154+8184A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68424683
chrX:68425165 G
G
 A
A
 91 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(88): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0122
a0001c0001t0004g0005
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0020g0099
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 91 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(88): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01952.hp1
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02257.hp1
HG02300.hp1
HG02602.hp1
HG02615.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG03017.hp1
HG03130.hp1
HG03209.hp1
HG03492.hp1
HG03516.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.154+7702C>T
c.154+7702C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68425165
chrX:68425229 T
T
 C
C
 14 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(11): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0008g0112
a0001c0001t0030g0155
 14 HG01891.hp2
HG02145.hp1
HG02486.hp1
others(11): Show 
HG01891.hp2
HG02145.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02723.hp2
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02976.hp2
HG03098.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
 intron_variant MODIFIER c.154+7638A>G
c.154+7638A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68425229
chrX:68425667 CT
CT
 C
C
 99 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(96): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0006g0013
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 99 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(96): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01952.hp1
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02135.hp1
HG02257.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02886.hp1
HG02922.hp2
HG03017.hp1
HG03130.hp1
HG03209.hp1
HG03492.hp1
HG03516.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.154+7199delA
c.154+7199delA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68425667
chrX:68425674 T
T
 A
A
 24 a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
others(21): Show 
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0008g0112
a0001c0001t0018g0104
a0001c0001t0022g0103
a0001c0001t0030g0155
 24 HG00280.hp1
HG01081.hp1
HG01891.hp2
others(21): Show 
HG00280.hp1
HG01081.hp1
HG01891.hp2
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02280.hp1
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02647.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02976.hp2
HG03098.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA19030.hp2
 intron_variant MODIFIER c.154+7193A>T
c.154+7193A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68425674
chrX:68425764 A
A
 AT
AT
 42 a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
others(39): Show 
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0003g0018
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0139
a0001c0001t0003g0151
a0001c0001t0004g0030
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0138
a0001c0001t0005g0152
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0008g0112
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0018g0104
a0001c0001t0021g0150
a0001c0001t0022g0103
a0001c0001t0030g0155
 42 HG00280.hp1
HG01081.hp1
HG01081.hp2
others(39): Show 
HG00280.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01243.hp1
HG01255.hp1
HG01891.hp1
HG01891.hp2
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp2
HG02647.hp1
HG02717.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03471.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
NA18522.hp1
NA18906.hp2
NA19030.hp2
 intron_variant MODIFIER c.154+7102dupA
c.154+7102dupA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68425764
chrX:68425764 A
A
 ATT
ATT
 1 a0001c0001t0002g0134
a0001c0001t0002g0134
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.154+7101_154+7102d
others(4): Show 
c.154+7101_154+7102dupAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68425764
chrX:68425764 AT
AT
 A
A
 1 a0001c0001t0001g0132
a0001c0001t0001g0132
 1 HG01069.hp1
HG01069.hp1
 intron_variant MODIFIER c.154+7102delA
c.154+7102delA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68425764
chrX:68425812 C
C
 CT
CT
 18 a0001c0001t0002g0019
a0001c0001t0002g0108
a0001c0001t0002g0114
others(15): Show 
a0001c0001t0002g0019
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0125
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0004g0117
a0001c0001t0005g0110
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0008g0112
a0001c0001t0021g0150
 18 HG01255.hp1
HG01891.hp2
HG02109.hp2
others(15): Show 
HG01255.hp1
HG01891.hp2
HG02109.hp2
HG02145.hp1
HG02280.hp1
HG02572.hp1
HG02615.hp1
HG02647.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp2
HG02922.hp1
HG02976.hp2
HG03471.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
 intron_variant MODIFIER c.154+7054dupA
c.154+7054dupA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68425812
chrX:68425812 C
C
 CTT
CTT
 10 a0001c0001t0001g0075
a0001c0001t0001g0082
a0001c0001t0002g0014
others(7): Show 
a0001c0001t0001g0075
a0001c0001t0001g0082
a0001c0001t0002g0014
a0001c0001t0005g0107
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0011g0061
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0022g0103
 10 HG00280.hp1
HG01081.hp1
HG02486.hp1
others(7): Show 
HG00280.hp1
HG01081.hp1
HG02486.hp1
HG02559.hp1
HG02683.hp1
HG03098.hp1
HG03130.hp1
HG03710.hp1
NA18977.hp1
NA18982.hp1
 intron_variant MODIFIER c.154+7053_154+7054d
others(4): Show 
c.154+7053_154+7054dupAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68425812
chrX:68425812 C
C
 CTTT
CTTT
 71 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(68): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0088
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0153
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0122
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0094
a0001c0001t0006g0013
a0001c0001t0007g0022
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0013g0042
a0001c0001t0017g0036
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 71 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(68): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01952.hp1
HG02015.hp1
HG02056.hp1
HG02071.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp2
HG02451.hp2
HG02615.hp2
HG02630.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02922.hp2
HG03017.hp1
HG03209.hp1
HG03492.hp1
HG03688.hp1
HG04228.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18974.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19004.hp1
NA19007.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19088.hp1
NA20752.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.154+7052_154+7054d
others(5): Show 
c.154+7052_154+7054dupAAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68425812
chrX:68425812 C
C
 CTTTT
CTTTT
 22 a0001c0001t0001g0025
a0001c0001t0001g0038
a0001c0001t0001g0039
others(19): Show 
a0001c0001t0001g0025
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0086
a0001c0001t0001g0090
a0001c0001t0001g0098
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0095
a0001c0001t0019g0003
a0001c0001t0024g0007
 22 HG00735.hp2
HG01081.hp2
HG01099.hp1
others(19): Show 
HG00735.hp2
HG01081.hp2
HG01099.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02300.hp1
HG02602.hp1
HG02698.hp1
HG02809.hp2
HG03516.hp1
HG03942.hp1
HG04199.hp1
NA18955.hp1
NA19000.hp1
NA19005.hp1
NA19009.hp1
NA19060.hp1
NA19085.hp1
 intron_variant MODIFIER c.154+7051_154+7054d
others(6): Show 
c.154+7051_154+7054dupAAAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68425812
chrX:68425812 C
C
 CTTTTT
CTTTTT
 3 a0001c0001t0001g0017
a0001c0001t0020g0099
a0001c0001t0023g0037
a0001c0001t0001g0017
a0001c0001t0020g0099
a0001c0001t0023g0037
 3 HG00738.hp1
HG04115.hp1
NA18971.hp1
HG00738.hp1
HG04115.hp1
NA18971.hp1
 intron_variant MODIFIER c.154+7050_154+7054d
others(7): Show 
c.154+7050_154+7054dupAAAAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68425812
chrX:68425812 CT
CT
 C
C
 2 a0001c0001t0002g0131
a0001c0001t0006g0121
a0001c0001t0002g0131
a0001c0001t0006g0121
 2 HG01167.hp1
HG02965.hp1
HG01167.hp1
HG02965.hp1
 intron_variant MODIFIER c.154+7054delA
c.154+7054delA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68425812
chrX:68425947 C
C
 G
G
 1 a0001c0001t0001g0043
a0001c0001t0001g0043
 1 NA18747.hp1
NA18747.hp1
 intron_variant MODIFIER c.154+6920G>C
c.154+6920G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68425947
chrX:68426103 A
A
 G
G
 8 a0001c0001t0003g0101
a0001c0001t0004g0004
a0001c0001t0004g0010
others(5): Show 
a0001c0001t0003g0101
a0001c0001t0004g0004
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0006g0013
a0001c0001t0019g0003
a0003c0004t0014g0102
 8 HG02109.hp1
HG02280.hp2
HG02451.hp2
others(5): Show 
HG02109.hp1
HG02280.hp2
HG02451.hp2
HG02630.hp1
HG02723.hp1
HG02809.hp2
HG02886.hp1
HG02922.hp2
 intron_variant MODIFIER c.154+6764T>C
c.154+6764T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68426103
chrX:68426310 G
G
 A
A
 1 a0001c0001t0004g0117
a0001c0001t0004g0117
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.154+6557C>T
c.154+6557C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68426310
chrX:68426549 G
G
 GATATATG
others(3): Show 
GATATATGTTT
 1 a0001c0001t0003g0035
a0001c0001t0003g0035
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.154+6317_154+6318i
others(12): Show 
c.154+6317_154+6318insAAACATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68426549
chrX:68426551 T
T
 A
A
 1 a0001c0001t0013g0042
a0001c0001t0013g0042
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.154+6316A>T
c.154+6316A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68426551
chrX:68426552 T
T
 TCTGACAT
others(5): Show 
TCTGACATATATA
 1 a0001c0001t0003g0035
a0001c0001t0003g0035
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.154+6314_154+6315i
others(14): Show 
c.154+6314_154+6315insTATATATGTCAG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68426552
chrX:68426552 T
T
 TTA
TTA
 8 a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
others(5): Show 
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0133
a0001c0001t0003g0151
a0001c0001t0005g0152
a0001c0001t0021g0150
a0001c0001t0030g0155
 8 HG01255.hp1
HG01891.hp1
HG02630.hp2
others(5): Show 
HG01255.hp1
HG01891.hp1
HG02630.hp2
HG02895.hp1
HG03225.hp1
HG03471.hp1
HG03540.hp1
NA18522.hp1
 intron_variant MODIFIER c.154+6313_154+6314d
others(4): Show 
c.154+6313_154+6314dupTA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68426552
chrX:68426552 T
T
 TTATA
TTATA
 4 a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0009g0128
others(1): Show 
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0009g0128
a0001c0001t0009g0129
 4 HG01243.hp1
HG02451.hp1
HG02965.hp1
others(1): Show 
HG01243.hp1
HG02451.hp1
HG02965.hp1
HG03139.hp1
 intron_variant MODIFIER c.154+6311_154+6314d
others(6): Show 
c.154+6311_154+6314dupTATA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68426552
chrX:68426552 T
T
 TTATATAT
others(11): Show 
TTATATATATATATATATA
 2 a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0006g0120
a0001c0001t0006g0121
 2 HG01167.hp1
HG01169.hp1
HG01167.hp1
HG01169.hp1
 intron_variant MODIFIER c.154+6297_154+6314d
others(20): Show 
c.154+6297_154+6314dupTATATATATATATATATA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68426552
chrX:68426552 T
T
 TTTTATAT
others(3): Show 
TTTTATATATA
 4 a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0018g0104
others(1): Show 
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0018g0104
a0001c0001t0022g0103
 4 HG00280.hp1
HG01081.hp1
HG02647.hp1
others(1): Show 
HG00280.hp1
HG01081.hp1
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.154+6314_154+6315i
others(12): Show 
c.154+6314_154+6315insTATATATAAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68426552
chrX:68426552 TTA
TTA
 T
T
 19 a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
others(16): Show 
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0008g0112
 19 HG01891.hp2
HG02109.hp2
HG02145.hp1
others(16): Show 
HG01891.hp2
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02280.hp1
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02922.hp1
HG02976.hp2
HG03098.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA19030.hp2
 intron_variant MODIFIER c.154+6313_154+6314d
others(4): Show 
c.154+6313_154+6314delTA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68426552
chrX:68426556 A
A
 T
T
 19 a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
others(16): Show 
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0008g0112
 19 HG01891.hp2
HG02109.hp2
HG02145.hp1
others(16): Show 
HG01891.hp2
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02280.hp1
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02922.hp1
HG02976.hp2
HG03098.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA19030.hp2
 intron_variant MODIFIER c.154+6311T>A
c.154+6311T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68426556
chrX:68426569 T
T
 A
A
 24 a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
others(21): Show 
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0008g0112
a0001c0001t0018g0104
a0001c0001t0022g0103
 24 HG00280.hp1
HG01081.hp1
HG01099.hp1
others(21): Show 
HG00280.hp1
HG01081.hp1
HG01099.hp1
HG01891.hp2
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02280.hp1
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02647.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp2
HG02922.hp1
HG02976.hp2
HG03098.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA19030.hp2
 intron_variant MODIFIER c.154+6298A>T
c.154+6298A>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68426569
chrX:68426569 T
T
 TATATATA
others(1): Show 
TATATATAA
 2 a0001c0001t0004g0004
a0001c0001t0019g0003
a0001c0001t0004g0004
a0001c0001t0019g0003
 2 HG02109.hp1
HG02809.hp2
HG02109.hp1
HG02809.hp2
 intron_variant MODIFIER c.154+6297_154+6298i
others(10): Show 
c.154+6297_154+6298insTTATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68426569
chrX:68426569 T
T
 TATATATA
others(7): Show 
TATATATATATATAA
 2 a0001c0001t0017g0036
a0004c0005t0012g0024
a0001c0001t0017g0036
a0004c0005t0012g0024
 2 HG01169.hp2
HG01952.hp1
HG01169.hp2
HG01952.hp1
 intron_variant MODIFIER c.154+6297_154+6298i
others(16): Show 
c.154+6297_154+6298insTTATATATATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68426569
chrX:68426569 T
T
 TATATATA
others(13): Show 
TATATATATATATATATATAA
 1 a0001c0001t0004g0026
a0001c0001t0004g0026
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.154+6297_154+6298i
others(22): Show 
c.154+6297_154+6298insTTATATATATATATATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68426569
chrX:68426569 T
T
 TATATATA
others(15): Show 
TATATATATATATATATATATAA
 1 a0001c0001t0001g0153
a0001c0001t0001g0153
 1 HG04228.hp1
HG04228.hp1
 intron_variant MODIFIER c.154+6297_154+6298i
others(24): Show 
c.154+6297_154+6298insTTATATATATATATATATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68426569
chrX:68426569 T
T
 TATATATA
others(21): Show 
TATATATATATATATATATATATATATAA
 11 a0001c0001t0001g0016
a0001c0001t0001g0038
a0001c0001t0001g0039
others(8): Show 
a0001c0001t0001g0016
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0092
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0013g0042
a0001c0001t0023g0037
a0001c0003t0010g0085
 11 HG01256.hp1
HG01346.hp2
HG02602.hp1
others(8): Show 
HG01256.hp1
HG01346.hp2
HG02602.hp1
HG02698.hp1
HG02735.hp1
HG03209.hp1
HG03516.hp1
HG04115.hp1
NA18960.hp1
NA18965.hp1
NA19007.hp1
 intron_variant MODIFIER c.154+6297_154+6298i
others(30): Show 
c.154+6297_154+6298insTTATATATATATATATATATATATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68426569
chrX:68426569 T
T
 TATATATA
others(23): Show 
TATATATATATATATATATATATATATATAA
 34 a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0017
others(31): Show 
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0027
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0003g0100
a0001c0001t0004g0005
a0001c0001t0011g0061
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0028g0084
 34 HG00609.hp1
HG00621.hp1
HG00673.hp1
others(31): Show 
HG00609.hp1
HG00621.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG01106.hp1
HG01261.hp1
HG01928.hp1
HG02015.hp1
HG02056.hp1
HG02074.hp1
HG02129.hp1
HG02135.hp1
HG02738.hp1
HG03942.hp1
NA18747.hp1
NA18943.hp1
NA18945.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19012.hp1
NA19060.hp1
NA19070.hp1
NA19085.hp1
NA20905.hp1
 intron_variant MODIFIER c.154+6297_154+6298i
others(32): Show 
c.154+6297_154+6298insTTATATATATATATATATATATATATAT
AT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68426569
chrX:68426569 T
T
 TATATATA
others(25): Show 
TATATATATATATATATATATATATATATATAA
 19 a0001c0001t0001g0025
a0001c0001t0001g0028
a0001c0001t0001g0062
others(16): Show 
a0001c0001t0001g0025
a0001c0001t0001g0028
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0091
a0001c0001t0016g0119
a0001c0001t0027g0072
a0001c0003t0010g0089
 19 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(16): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00642.hp1
HG01258.hp1
HG01515.hp1
HG02083.hp1
HG02300.hp1
HG02615.hp2
HG02683.hp1
HG03688.hp1
HG04199.hp1
NA18952.hp1
NA18977.hp1
NA18990.hp1
NA19009.hp1
NA19056.hp1
NA19066.hp1
NA19068.hp1
 intron_variant MODIFIER c.154+6297_154+6298i
others(34): Show 
c.154+6297_154+6298insTTATATATATATATATATATATATATAT
ATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68426569
chrX:68426569 T
T
 TATATATA
others(27): Show 
TATATATATATATATATATATATATATATATATAA
 10 a0001c0001t0001g0008
a0001c0001t0001g0029
a0001c0001t0001g0077
others(7): Show 
a0001c0001t0001g0008
a0001c0001t0001g0029
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0090
a0001c0001t0003g0076
a0001c0001t0004g0010
a0001c0001t0020g0099
a0002c0002t0001g0002
 10 HG00738.hp1
HG01192.hp1
HG01346.hp1
others(7): Show 
HG00738.hp1
HG01192.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp1
HG02071.hp1
HG02451.hp2
NA18988.hp1
NA19088.hp1
NA20752.hp1
 intron_variant MODIFIER c.154+6297_154+6298i
others(36): Show 
c.154+6297_154+6298insTTATATATATATATATATATATATATAT
ATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68426569
chrX:68426569 T
T
 TATATATA
others(29): Show 
TATATATATATATATATATATATATATATATATATAA
 5 a0001c0001t0001g0080
a0001c0001t0001g0098
a0001c0001t0003g0122
others(2): Show 
a0001c0001t0001g0080
a0001c0001t0001g0098
a0001c0001t0003g0122
a0001c0001t0004g0030
a0001c0001t0007g0033
 5 HG01081.hp2
HG03017.hp1
NA18955.hp1
others(2): Show 
HG01081.hp2
HG03017.hp1
NA18955.hp1
NA19030.hp1
NA19043.hp1
 intron_variant MODIFIER c.154+6297_154+6298i
others(38): Show 
c.154+6297_154+6298insTTATATATATATATATATATATATATAT
ATATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68426569
chrX:68426569 T
T
 TATATATA
others(31): Show 
TATATATATATATATATATATATATATATATATATATAA
 5 a0001c0001t0003g0081
a0001c0001t0003g0101
a0001c0001t0004g0034
others(2): Show 
a0001c0001t0003g0081
a0001c0001t0003g0101
a0001c0001t0004g0034
a0001c0001t0008g0096
a0001c0001t0029g0031
 5 HG02055.hp1
HG02257.hp1
HG02723.hp1
others(2): Show 
HG02055.hp1
HG02257.hp1
HG02723.hp1
HG03492.hp1
NA18962.hp1
 intron_variant MODIFIER c.154+6297_154+6298i
others(40): Show 
c.154+6297_154+6298insTTATATATATATATATATATATATATAT
ATATATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68426569
chrX:68426569 T
T
 TATATATA
others(33): Show 
TATATATATATATATATATATATATATATATATATATATAA
 4 a0001c0001t0001g0082
a0001c0001t0004g0011
a0001c0001t0007g0032
others(1): Show 
a0001c0001t0001g0082
a0001c0001t0004g0011
a0001c0001t0007g0032
a0003c0004t0014g0102
 4 HG02280.hp2
HG02886.hp1
HG03130.hp1
others(1): Show 
HG02280.hp2
HG02886.hp1
HG03130.hp1
HG03710.hp1
 intron_variant MODIFIER c.154+6297_154+6298i
others(42): Show 
c.154+6297_154+6298insTTATATATATATATATATATATATATAT
ATATATATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68426569
chrX:68426569 T
T
 TATATATA
others(35): Show 
TATATATATATATATATATATATATATATATATATATATATAA
 3 a0001c0001t0002g0083
a0001c0001t0004g0012
a0001c0001t0006g0013
a0001c0001t0002g0083
a0001c0001t0004g0012
a0001c0001t0006g0013
 3 HG02630.hp1
HG02922.hp2
NA18948.hp1
HG02630.hp1
HG02922.hp2
NA18948.hp1
 intron_variant MODIFIER c.154+6297_154+6298i
others(44): Show 
c.154+6297_154+6298insTTATATATATATATATATATATATATAT
ATATATATATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68426569
chrX:68426569 T
T
 TATATATA
others(45): Show 
TATATATATATATATATATATATATATATATATATATATATATATATATA
TAA
 1 a0002c0002t0003g0001
a0002c0002t0003g0001
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.154+6297_154+6298i
others(54): Show 
c.154+6297_154+6298insTTATATATATATATATATATATATATAT
ATATATATATATATATATATATAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68426569
chrX:68426690 G
G
 A
A
 1 a0001c0001t0028g0084
a0001c0001t0028g0084
 1 NA19070.hp1
NA19070.hp1
 intron_variant MODIFIER c.154+6177C>T
c.154+6177C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68426690
chrX:68426699 C
C
 CA
CA
 17 a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
others(14): Show 
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0008g0112
a0001c0001t0030g0155
 17 HG01891.hp2
HG02109.hp2
HG02145.hp1
others(14): Show 
HG01891.hp2
HG02109.hp2
HG02145.hp1
HG02280.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02976.hp2
HG03098.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
 intron_variant MODIFIER c.154+6167dupT
c.154+6167dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68426699
chrX:68426699 C
C
 CAA
CAA
 3 a0001c0001t0002g0021
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0002g0021
a0001c0001t0007g0022
a0001c0001t0007g0023
 3 HG02257.hp2
HG02559.hp1
NA19030.hp2
HG02257.hp2
HG02559.hp1
NA19030.hp2
 intron_variant MODIFIER c.154+6166_154+6167d
others(4): Show 
c.154+6166_154+6167dupTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68426699
chrX:68426699 C
C
 CAAAAAAA
CAAAAAAA
 2 a0001c0001t0004g0004
a0001c0001t0019g0003
a0001c0001t0004g0004
a0001c0001t0019g0003
 2 HG02109.hp1
HG02809.hp2
HG02109.hp1
HG02809.hp2
 intron_variant MODIFIER c.154+6161_154+6167d
others(9): Show 
c.154+6161_154+6167dupTTTTTTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68426699
chrX:68426699 C
C
 CAAAAAAA
others(2): Show 
CAAAAAAAAA
 9 a0001c0001t0001g0025
a0001c0001t0003g0035
a0001c0001t0003g0101
others(6): Show 
a0001c0001t0001g0025
a0001c0001t0003g0035
a0001c0001t0003g0101
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0006g0013
a0003c0004t0014g0102
a0004c0005t0012g0024
 9 HG01099.hp1
HG01169.hp2
HG01515.hp1
others(6): Show 
HG01099.hp1
HG01169.hp2
HG01515.hp1
HG02280.hp2
HG02451.hp2
HG02630.hp1
HG02723.hp1
HG02886.hp1
HG02922.hp2
 intron_variant MODIFIER c.154+6159_154+6167d
others(11): Show 
c.154+6159_154+6167dupTTTTTTTTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68426699
chrX:68426699 C
C
 CAAAAAAA
others(3): Show 
CAAAAAAAAAA
 74 a0001c0001t0001g0008
a0001c0001t0001g0016
a0001c0001t0001g0017
others(71): Show 
a0001c0001t0001g0008
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0098
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0004g0005
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0094
a0001c0001t0007g0032
a0001c0001t0008g0096
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0002c0002t0001g0002
a0002c0002t0003g0001
 74 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(71): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG01081.hp2
HG01106.hp1
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01928.hp1
HG01952.hp1
HG02015.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02257.hp1
HG02300.hp1
HG02602.hp1
HG02615.hp2
HG02683.hp1
HG02698.hp1
HG02738.hp1
HG03017.hp1
HG03130.hp1
HG03209.hp1
HG03492.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18906.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA19000.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19056.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.154+6158_154+6167d
others(12): Show 
c.154+6158_154+6167dupTTTTTTTTTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68426699
chrX:68426699 C
C
 CAAAAAAA
others(4): Show 
CAAAAAAAAAAA
 14 a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0086
others(11): Show 
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0097
a0001c0001t0003g0122
a0001c0001t0004g0034
a0001c0001t0004g0095
a0001c0001t0007g0033
a0001c0001t0020g0099
a0001c0001t0025g0087
a0001c0003t0010g0085
a0001c0003t0010g0089
 14 HG00738.hp1
HG01433.hp1
HG02055.hp1
others(11): Show 
HG00738.hp1
HG01433.hp1
HG02055.hp1
HG02056.hp1
HG02735.hp1
HG03516.hp1
HG03688.hp1
NA18943.hp1
NA18970.hp1
NA18995.hp1
NA19004.hp1
NA19030.hp1
NA19043.hp1
NA19060.hp1
 intron_variant MODIFIER c.154+6157_154+6167d
others(13): Show 
c.154+6157_154+6167dupTTTTTTTTTTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68426699
chrX:68426699 CA
CA
 C
C
 2 a0001c0001t0002g0133
a0001c0001t0022g0103
a0001c0001t0002g0133
a0001c0001t0022g0103
 2 HG01081.hp1
HG01891.hp1
HG01081.hp1
HG01891.hp1
 intron_variant MODIFIER c.154+6167delT
c.154+6167delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68426699
chrX:68426889 AAC
AAC
 A
A
 96 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(93): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0100
a0001c0001t0003g0122
a0001c0001t0004g0005
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0020g0099
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 96 HG00099.hp1
HG00140.hp1
HG00609.hp1
others(93): Show 
HG00099.hp1
HG00140.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01952.hp1
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02135.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02300.hp1
HG02559.hp1
HG02602.hp1
HG02615.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG03017.hp1
HG03130.hp1
HG03209.hp1
HG03492.hp1
HG03516.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.154+5976_154+5977d
others(4): Show 
c.154+5976_154+5977delGT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68426889
chrX:68426890 AC
AC
 A
A
 1 a0001c0001t0003g0091
a0001c0001t0003g0091
 1 HG00099.hp2
HG00099.hp2
 intron_variant MODIFIER c.154+5976delG
c.154+5976delG
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68426890
chrX:68426891 CA
CA
 C
C
 16 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(13): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0004g0004
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0008g0112
a0001c0001t0019g0003
a0001c0001t0030g0155
 16 HG01891.hp2
HG02109.hp1
HG02145.hp1
others(13): Show 
HG01891.hp2
HG02109.hp1
HG02145.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02976.hp2
HG03098.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
 intron_variant MODIFIER c.154+5975delT
c.154+5975delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68426891
chrX:68426891 CAA
CAA
 C
C
 6 a0001c0001t0003g0101
a0001c0001t0004g0010
a0001c0001t0004g0011
others(3): Show 
a0001c0001t0003g0101
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0006g0013
a0003c0004t0014g0102
 6 HG02280.hp2
HG02451.hp2
HG02630.hp1
others(3): Show 
HG02280.hp2
HG02451.hp2
HG02630.hp1
HG02723.hp1
HG02886.hp1
HG02922.hp2
 intron_variant MODIFIER c.154+5974_154+5975d
others(4): Show 
c.154+5974_154+5975delTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68426891
chrX:68427089 T
T
 TA
TA
 17 a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
others(14): Show 
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0008g0112
a0001c0001t0030g0155
 17 HG01891.hp2
HG02109.hp2
HG02145.hp1
others(14): Show 
HG01891.hp2
HG02109.hp2
HG02145.hp1
HG02280.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02976.hp2
HG03098.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
 intron_variant MODIFIER c.154+5777dupT
c.154+5777dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68427089
chrX:68427089 T
T
 TAA
TAA
 24 a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
others(21): Show 
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0002g0021
a0001c0001t0003g0122
a0001c0001t0004g0005
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0018g0104
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0029g0031
a0002c0002t0003g0001
a0004c0005t0012g0024
 24 HG00280.hp1
HG00735.hp2
HG00738.hp1
others(21): Show 
HG00280.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01169.hp2
HG01515.hp1
HG02055.hp1
HG02083.hp1
HG02257.hp1
HG02257.hp2
HG02559.hp1
HG02647.hp1
HG02886.hp2
HG03130.hp1
HG03209.hp1
NA18906.hp1
NA18962.hp1
NA18988.hp1
NA18994.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.154+5776_154+5777d
others(4): Show 
c.154+5776_154+5777dupTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68427089
chrX:68427089 T
T
 TAAA
TAAA
 78 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(75): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0095
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0019g0003
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0003c0004t0014g0102
 78 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(75): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG01099.hp1
HG01106.hp1
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01928.hp1
HG01952.hp1
HG02015.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02129.hp1
HG02135.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02602.hp1
HG02615.hp2
HG02683.hp1
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02886.hp1
HG02922.hp2
HG03017.hp1
HG03492.hp1
HG03516.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18990.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20905.hp1
 intron_variant MODIFIER c.154+5775_154+5777d
others(5): Show 
c.154+5775_154+5777dupTTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68427089
chrX:68427089 T
T
 TAAAA
TAAAA
 4 a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0004g0004
others(1): Show 
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0004g0004
a0001c0001t0006g0013
 4 HG00735.hp1
HG02109.hp1
HG02630.hp1
others(1): Show 
HG00735.hp1
HG02109.hp1
HG02630.hp1
NA18960.hp1
 intron_variant MODIFIER c.154+5774_154+5777d
others(6): Show 
c.154+5774_154+5777dupTTTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68427089
chrX:68427123 C
C
 T
T
 1 a0001c0001t0016g0119
a0001c0001t0016g0119
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.154+5744G>A
c.154+5744G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68427123
chrX:68427127 G
G
 A
A
 1 a0001c0001t0003g0118
a0001c0001t0003g0118
 1 HG02572.hp1
HG02572.hp1
 intron_variant MODIFIER c.154+5740C>T
c.154+5740C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68427127
chrX:68427267 C
C
 CA
CA
 2 a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0094
a0001c0001t0004g0095
 2 HG03209.hp1
HG03516.hp1
HG03209.hp1
HG03516.hp1
 intron_variant MODIFIER c.154+5599dupT
c.154+5599dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68427267
chrX:68427277 A
A
 C
C
 22 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(19): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0004g0004
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0008g0112
a0001c0001t0019g0003
a0001c0001t0030g0155
a0003c0004t0014g0102
 22 HG01891.hp2
HG02109.hp1
HG02145.hp1
others(19): Show 
HG01891.hp2
HG02109.hp1
HG02145.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02976.hp2
HG03098.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
 intron_variant MODIFIER c.154+5590T>G
c.154+5590T>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68427277
chrX:68427277 AAAC
AAAC
 A
A
 1 a0001c0001t0008g0096
a0001c0001t0008g0096
 1 HG02257.hp1
HG02257.hp1
 intron_variant MODIFIER c.154+5587_154+5589d
others(5): Show 
c.154+5587_154+5589delGTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68427277
chrX:68427292 C
C
 A
A
 2 a0001c0001t0004g0004
a0001c0001t0019g0003
a0001c0001t0004g0004
a0001c0001t0019g0003
 2 HG02109.hp1
HG02809.hp2
HG02109.hp1
HG02809.hp2
 intron_variant MODIFIER c.154+5575G>T
c.154+5575G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68427292
chrX:68427636 C
C
 T
T
 97 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(94): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0122
a0001c0001t0004g0005
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0020g0099
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 97 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(94): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01952.hp1
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02135.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02300.hp1
HG02559.hp1
HG02602.hp1
HG02615.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG03017.hp1
HG03130.hp1
HG03209.hp1
HG03492.hp1
HG03516.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.154+5231G>A
c.154+5231G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68427636
chrX:68427702 T
T
 C
C
 2 a0001c0001t0004g0004
a0001c0001t0019g0003
a0001c0001t0004g0004
a0001c0001t0019g0003
 2 HG02109.hp1
HG02809.hp2
HG02109.hp1
HG02809.hp2
 intron_variant MODIFIER c.154+5165A>G
c.154+5165A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68427702
chrX:68427827 T
T
 TA
TA
 2 a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0006g0120
a0001c0001t0006g0121
 2 HG01167.hp1
HG01169.hp1
HG01167.hp1
HG01169.hp1
 intron_variant MODIFIER c.154+5039dupT
c.154+5039dupT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68427827
chrX:68427827 TA
TA
 T
T
 17 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0132
others(14): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0132
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0008g0112
a0001c0001t0020g0099
 17 HG00738.hp1
HG01069.hp1
HG01256.hp1
others(14): Show 
HG00738.hp1
HG01069.hp1
HG01256.hp1
HG01891.hp2
HG02145.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02723.hp2
HG02818.hp2
HG02922.hp1
HG02976.hp2
HG03098.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18971.hp1
 intron_variant MODIFIER c.154+5039delT
c.154+5039delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68427827
chrX:68427827 TAA
TAA
 T
T
 6 a0001c0001t0003g0101
a0001c0001t0004g0010
a0001c0001t0004g0011
others(3): Show 
a0001c0001t0003g0101
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0006g0013
a0003c0004t0014g0102
 6 HG02280.hp2
HG02451.hp2
HG02630.hp1
others(3): Show 
HG02280.hp2
HG02451.hp2
HG02630.hp1
HG02723.hp1
HG02886.hp1
HG02922.hp2
 intron_variant MODIFIER c.154+5038_154+5039d
others(4): Show 
c.154+5038_154+5039delTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68427827
chrX:68427896 T
T
 C
C
 1 a0001c0001t0020g0099
a0001c0001t0020g0099
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.154+4971A>G
c.154+4971A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68427896
chrX:68428311 C
C
 G
G
 4 a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0018g0104
others(1): Show 
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0018g0104
a0001c0001t0022g0103
 4 HG00280.hp1
HG01081.hp1
HG02647.hp1
others(1): Show 
HG00280.hp1
HG01081.hp1
HG02647.hp1
HG02886.hp2
 intron_variant MODIFIER c.154+4556G>C
c.154+4556G>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68428311
chrX:68428617 T
T
 C
C
 1 a0001c0001t0001g0154
a0001c0001t0001g0154
 1 NA19005.hp1
NA19005.hp1
 intron_variant MODIFIER c.154+4250A>G
c.154+4250A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68428617
chrX:68428749 AAAC
AAAC
 A
A
 2 a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0006g0120
a0001c0001t0006g0121
 2 HG01167.hp1
HG01169.hp1
HG01167.hp1
HG01169.hp1
 intron_variant MODIFIER c.154+4115_154+4117d
others(5): Show 
c.154+4115_154+4117delGTT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68428749
chrX:68428777 T
T
 C
C
 105 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(102): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0006g0013
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 105 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(102): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01952.hp1
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02135.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02559.hp1
HG02602.hp1
HG02615.hp2
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02922.hp2
HG03017.hp1
HG03130.hp1
HG03209.hp1
HG03492.hp1
HG03516.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.154+4090A>G
c.154+4090A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68428777
chrX:68428899 C
C
 T
T
 1 a0001c0001t0001g0015
a0001c0001t0001g0015
 1 NA19004.hp1
NA19004.hp1
 intron_variant MODIFIER c.154+3968G>A
c.154+3968G>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68428899
chrX:68429334 G
G
 A
A
 6 a0001c0001t0003g0101
a0001c0001t0004g0010
a0001c0001t0004g0011
others(3): Show 
a0001c0001t0003g0101
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0006g0013
a0003c0004t0014g0102
 6 HG02280.hp2
HG02451.hp2
HG02630.hp1
others(3): Show 
HG02280.hp2
HG02451.hp2
HG02630.hp1
HG02723.hp1
HG02886.hp1
HG02922.hp2
 intron_variant MODIFIER c.154+3533C>T
c.154+3533C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68429334
chrX:68429490 G
G
 A
A
 13 a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
others(10): Show 
a0001c0001t0002g0014
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0008g0112
 13 HG01891.hp2
HG02145.hp1
HG02486.hp1
others(10): Show 
HG01891.hp2
HG02145.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02723.hp2
HG02818.hp2
HG02922.hp1
HG02976.hp2
HG03098.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
 intron_variant MODIFIER c.154+3377C>T
c.154+3377C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68429490
chrX:68429499 GGCTT
GGCTT
 G
G
 1 a0001c0001t0001g0097
a0001c0001t0001g0097
 1 NA18970.hp1
NA18970.hp1
 intron_variant MODIFIER c.154+3364_154+3367d
others(6): Show 
c.154+3364_154+3367delAAGC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68429499
chrX:68429765 G
G
 A
A
 97 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(94): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0122
a0001c0001t0004g0005
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0020g0099
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 97 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(94): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01952.hp1
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02135.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02300.hp1
HG02559.hp1
HG02602.hp1
HG02615.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG03017.hp1
HG03130.hp1
HG03209.hp1
HG03492.hp1
HG03516.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.154+3102C>T
c.154+3102C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68429765
chrX:68430044 CA
CA
 C
C
 96 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(93): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0122
a0001c0001t0004g0005
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0020g0099
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 96 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(93): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01952.hp1
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02135.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02300.hp1
HG02559.hp1
HG02602.hp1
HG02615.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG03017.hp1
HG03130.hp1
HG03209.hp1
HG03492.hp1
HG03516.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.154+2822delT
c.154+2822delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68430044
chrX:68430127 TG
TG
 T
T
 7 a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
others(4): Show 
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0009g0128
a0001c0001t0009g0129
 7 HG01243.hp1
HG01255.hp1
HG02451.hp1
others(4): Show 
HG01243.hp1
HG01255.hp1
HG02451.hp1
HG02965.hp1
HG03139.hp1
HG03225.hp1
HG03540.hp1
 intron_variant MODIFIER c.154+2739delC
c.154+2739delC
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68430127
chrX:68430281 T
T
 C
C
 1 a0001c0001t0020g0099
a0001c0001t0020g0099
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.154+2586A>G
c.154+2586A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68430281
chrX:68430463 C
C
 A
A
 97 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(94): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0122
a0001c0001t0004g0005
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0020g0099
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 97 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(94): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01952.hp1
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02135.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02300.hp1
HG02559.hp1
HG02602.hp1
HG02615.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG03017.hp1
HG03130.hp1
HG03209.hp1
HG03492.hp1
HG03516.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.154+2404G>T
c.154+2404G>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68430463
chrX:68430511 T
T
 C
C
 123 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(120): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 123 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(120): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp2
HG01928.hp1
HG01952.hp1
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02683.hp1
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03130.hp1
HG03209.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.154+2356A>G
c.154+2356A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68430511
chrX:68430527 A
A
 T
T
 6 a0001c0001t0003g0101
a0001c0001t0004g0010
a0001c0001t0004g0011
others(3): Show 
a0001c0001t0003g0101
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0006g0013
a0003c0004t0014g0102
 6 HG02280.hp2
HG02451.hp2
HG02630.hp1
others(3): Show 
HG02280.hp2
HG02451.hp2
HG02630.hp1
HG02723.hp1
HG02886.hp1
HG02922.hp2
 intron_variant MODIFIER c.154+2340T>A
c.154+2340T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68430527
chrX:68430549 G
G
 A
A
 1 a0001c0001t0003g0100
a0001c0001t0003g0100
 1 HG01106.hp1
HG01106.hp1
 intron_variant MODIFIER c.154+2318C>T
c.154+2318C>T
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68430549
chrX:68430837 GA
GA
 G
G
 6 a0001c0001t0003g0101
a0001c0001t0004g0010
a0001c0001t0004g0011
others(3): Show 
a0001c0001t0003g0101
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0006g0013
a0003c0004t0014g0102
 6 HG02280.hp2
HG02451.hp2
HG02630.hp1
others(3): Show 
HG02280.hp2
HG02451.hp2
HG02630.hp1
HG02723.hp1
HG02886.hp1
HG02922.hp2
 intron_variant MODIFIER c.154+2029delT
c.154+2029delT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68430837
chrX:68431583 A
A
 AT
AT
 21 a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
others(18): Show 
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0124
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0008g0112
a0001c0001t0016g0119
a0001c0001t0018g0104
a0001c0001t0022g0103
a0001c0001t0030g0155
a0003c0004t0014g0102
 21 HG00280.hp1
HG01081.hp1
HG01891.hp2
others(18): Show 
HG00280.hp1
HG01081.hp1
HG01891.hp2
HG02145.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02647.hp1
HG02683.hp1
HG02723.hp1
HG02723.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02976.hp2
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18612.hp1
 intron_variant MODIFIER c.154+1283dupA
c.154+1283dupA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68431583
chrX:68431583 A
A
 ATT
ATT
 95 a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
others(92): Show 
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0154
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0122
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0006g0013
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0017g0036
a0001c0001t0020g0099
a0001c0001t0023g0037
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0004c0005t0012g0024
 95 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(92): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00738.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01952.hp1
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02135.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02559.hp1
HG02602.hp1
HG02615.hp2
HG02630.hp1
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02922.hp2
HG03017.hp1
HG03098.hp1
HG03130.hp1
HG03209.hp1
HG03492.hp1
HG03516.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.154+1282_154+1283d
others(4): Show 
c.154+1282_154+1283dupAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68431583
chrX:68431583 A
A
 ATTT
ATTT
 5 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0002g0006
others(2): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0002g0006
a0001c0001t0004g0005
a0001c0001t0024g0007
 5 HG00735.hp2
HG01346.hp1
HG02074.hp1
others(2): Show 
HG00735.hp2
HG01346.hp1
HG02074.hp1
NA18995.hp1
NA19000.hp1
 intron_variant MODIFIER c.154+1281_154+1283d
others(5): Show 
c.154+1281_154+1283dupAAA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68431583
chrX:68431583 AT
AT
 A
A
 2 a0001c0001t0004g0004
a0001c0001t0019g0003
a0001c0001t0004g0004
a0001c0001t0019g0003
 2 HG02109.hp1
HG02809.hp2
HG02109.hp1
HG02809.hp2
 intron_variant MODIFIER c.154+1283delA
c.154+1283delA
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68431583
chrX:68431633 A
A
 G
G
 1 a0001c0001t0002g0123
a0001c0001t0002g0123
 1 HG02027.hp1
HG02027.hp1
 intron_variant MODIFIER c.154+1234T>C
c.154+1234T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68431633
chrX:68431650 A
A
 T
T
 2 a0001c0001t0004g0004
a0001c0001t0019g0003
a0001c0001t0004g0004
a0001c0001t0019g0003
 2 HG02109.hp1
HG02809.hp2
HG02109.hp1
HG02809.hp2
 intron_variant MODIFIER c.154+1217T>A
c.154+1217T>A
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68431650
chrX:68432081 T
T
 C
C
 1 a0001c0001t0003g0122
a0001c0001t0003g0122
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.154+786A>G
c.154+786A>G
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68432081
chrX:68432671 A
A
 G
G
 124 a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
others(121): Show 
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0154
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0019
a0001c0001t0002g0021
a0001c0001t0002g0047
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0083
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0003g0018
a0001c0001t0003g0020
a0001c0001t0003g0035
a0001c0001t0003g0063
a0001c0001t0003g0065
a0001c0001t0003g0076
a0001c0001t0003g0081
a0001c0001t0003g0091
a0001c0001t0003g0100
a0001c0001t0003g0101
a0001c0001t0003g0109
a0001c0001t0003g0111
a0001c0001t0003g0113
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0004g0004
a0001c0001t0004g0005
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0012
a0001c0001t0004g0026
a0001c0001t0004g0030
a0001c0001t0004g0034
a0001c0001t0004g0094
a0001c0001t0004g0095
a0001c0001t0004g0117
a0001c0001t0005g0107
a0001c0001t0005g0110
a0001c0001t0006g0013
a0001c0001t0006g0105
a0001c0001t0006g0106
a0001c0001t0006g0120
a0001c0001t0006g0121
a0001c0001t0007g0022
a0001c0001t0007g0023
a0001c0001t0007g0032
a0001c0001t0007g0033
a0001c0001t0008g0096
a0001c0001t0008g0112
a0001c0001t0011g0061
a0001c0001t0013g0042
a0001c0001t0016g0119
a0001c0001t0017g0036
a0001c0001t0018g0104
a0001c0001t0019g0003
a0001c0001t0020g0099
a0001c0001t0022g0103
a0001c0001t0023g0037
a0001c0001t0024g0007
a0001c0001t0025g0087
a0001c0001t0026g0056
a0001c0001t0027g0072
a0001c0001t0028g0084
a0001c0001t0029g0031
a0001c0001t0030g0155
a0001c0003t0010g0085
a0001c0003t0010g0089
a0002c0002t0001g0002
a0002c0002t0003g0001
a0003c0004t0014g0102
a0004c0005t0012g0024
 124 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(121): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp2
HG01928.hp1
HG01952.hp1
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02683.hp1
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03130.hp1
HG03209.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19085.hp1
NA19088.hp1
NA20752.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.154+196T>C
c.154+196T>C
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68432671
chrX:68432716 T
T
 TATC
TATC
 1 a0001c0001t0001g0154
a0001c0001t0001g0154
 1 NA19005.hp1
NA19005.hp1
 intron_variant MODIFIER c.154+148_154+150dup
others(3): Show 
c.154+148_154+150dupGAT
OPHN1 ENSG00000079482.14 transcript ENST00000355520.6 protein_coding 2/24 chrX 68432716

  • 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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