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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

  Error connecting to IGV?   RERE_chr1_8347404_8822640  RERE_chr1_8347404_8822640 (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 473
ensemblid ENSG00000142599.20
hgncid 9965
symbol RERE
name arginine-glutamic acid dipeptide repeats
refseq_nuc NM_001042681.2
refseq_prot NP_001036146.1
ensembl_nuc ENST00000400908.7
ensembl_prot ENSP00000383700.2
mane_status MANE Select
chr chr1
start 8352404
end 8817640
strand -
ver v1.2
region chr1:8352404-8817640
region5000 chr1:8347404-8822640
regionname0 RERE_chr1_8352404_8817640
regionname5000 RERE_chr1_8347404_8822640

ahapid grch38/
chm13v2 		alen total AFR AMR EAS EUR SAS JPT regionname genename aa chr start end
a0001 1/1 1566 183 62 31 51 10 27 31 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0002 0/0 1564 8 0 2 6 0 0 4 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0003 0/0 1568 4 4 0 0 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0004 0/0 1566 2 2 0 0 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0005 0/0 1564 2 2 0 0 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0006 0/0 1566 1 1 0 0 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0007 0/0 1566 1 1 0 0 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0008 0/0 1566 1 0 0 0 0 1 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0009 0/0 1566 1 0 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0010 0/0 1564 1 0 0 1 0 0 1 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640

chapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
c0001 0/0 4701 61 11 8 30 4 8 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
c0002 0/0 4701 51 19 12 8 3 9 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
c0003 1/1 4701 24 5 5 7 1 4 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
c0004 0/0 4701 16 8 3 1 0 4 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
c0005 0/0 4701 8 8 0 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
c0006 0/0 4695 7 0 1 6 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
c0007 0/0 4701 6 0 0 4 1 1 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
c0008 0/0 4707 4 4 0 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
c0009 0/0 4701 3 1 2 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
c0010 0/0 4701 3 3 0 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
c0011 0/0 4701 3 3 0 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
c0012 0/0 4701 2 2 0 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
c0013 0/0 4695 2 2 0 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
c0014 0/0 4701 1 0 1 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
c0015 0/0 4701 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
c0016 0/0 4701 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
c0017 0/0 4701 1 0 0 0 0 1 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
c0018 0/0 4701 1 0 0 0 0 1 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
c0019 0/0 4701 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
c0020 0/0 4701 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
c0021 0/0 4701 1 0 1 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
c0022 0/0 4701 1 0 0 0 1 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
c0023 0/0 4701 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
c0024 0/0 4701 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
c0025 0/0 4701 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
c0026 0/0 4695 1 0 1 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
c0027 0/0 4695 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640

thapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
t0001 0/0 3311 44 12 6 19 2 5 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
t0002 0/0 3308 36 7 11 9 3 6 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
t0003 0/0 3310 28 3 4 15 1 5 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
t0004 0/1 3311 18 1 5 8 1 2 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
t0005 0/0 3309 14 9 3 0 0 2 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
t0006 0/0 3309 7 3 0 1 0 3 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
t0007 0/0 3310 6 6 0 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
t0008 0/0 3310 6 2 3 0 1 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
t0009 0/0 3310 5 5 0 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
t0010 0/0 3310 3 2 1 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
t0011 0/0 3310 3 1 0 1 0 1 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
t0012 0/0 3311 2 2 0 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
t0013 0/0 3310 2 1 0 0 0 1 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
t0014 0/0 3309 2 2 0 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
t0015 1/0 3309 2 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
t0016 0/0 3311 1 0 1 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
t0017 0/0 3311 1 0 0 0 0 1 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
t0018 0/0 3310 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
t0019 0/0 3310 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
t0020 0/0 3310 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
t0021 0/0 3314 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
t0022 0/0 3310 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
t0023 0/0 3310 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
t0024 0/0 3310 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
t0025 0/0 3309 1 0 0 0 0 1 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
t0026 0/0 3309 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
t0027 0/0 3309 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
t0028 0/0 3309 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
t0029 0/0 3313 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
t0030 0/0 3310 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
t0031 0/0 3310 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
t0032 0/0 3309 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
t0033 0/0 3308 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
t0034 0/0 3308 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
t0035 0/0 3308 1 0 0 0 0 1 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
t0036 0/0 3311 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
t0037 0/0 3310 1 0 0 0 1 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
t0038 0/0 3310 1 0 0 0 1 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
t0039 0/0 3311 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
t0040 0/0 3310 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
t0041 0/0 3311 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640

ghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
g0001 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0002 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0003 0/0 1 0 0 0 0 1 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0004 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0005 0/0 1 0 0 0 0 1 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0006 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0007 0/0 1 0 0 0 0 1 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0008 0/0 1 0 0 0 0 1 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0009 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0010 0/1 1 0 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0011 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0012 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0013 0/0 1 0 1 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0014 0/0 1 0 1 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0015 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0016 0/0 1 0 1 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0017 0/0 1 0 0 0 1 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0018 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0019 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0020 0/0 1 0 1 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0021 0/0 1 0 1 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0022 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0023 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0024 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0025 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0026 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0027 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0028 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0029 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0030 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0031 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0032 0/0 1 0 0 0 0 1 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0033 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0034 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0035 0/0 1 0 1 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0036 0/0 1 0 0 0 0 1 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0037 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0038 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0039 0/0 1 0 1 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0040 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0041 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0042 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0043 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0044 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0045 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0046 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0047 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0048 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0049 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0050 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0051 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0052 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0053 0/0 1 0 0 0 0 1 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0054 0/0 1 0 1 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0055 0/0 1 0 0 0 0 1 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0056 0/0 1 0 1 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0057 0/0 1 0 1 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0058 0/0 1 0 0 0 1 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0059 0/0 1 0 1 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0060 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0061 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0062 0/0 1 0 1 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0063 0/0 1 0 0 0 1 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0064 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0065 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0066 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0067 0/0 1 0 0 0 0 1 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0068 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0069 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0070 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0071 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0072 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0073 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0074 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0075 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0076 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0077 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0078 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0079 0/0 1 0 0 0 0 1 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0080 0/0 1 0 0 0 0 1 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0081 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0082 0/0 1 0 0 0 1 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0083 0/0 1 0 1 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0084 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0085 0/0 1 0 1 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0086 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0087 0/0 1 0 0 0 0 1 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0088 0/0 1 0 1 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0089 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0090 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0091 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0092 0/0 1 0 1 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0093 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0094 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0095 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0096 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0097 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0098 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0099 0/0 1 0 0 0 1 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0100 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0101 0/0 1 0 0 0 0 1 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0102 0/0 1 0 0 0 0 1 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0103 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0104 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0105 0/0 1 0 1 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0106 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0107 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0108 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0109 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0110 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0111 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0112 0/0 1 0 0 0 0 1 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0113 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0114 0/0 1 0 1 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0115 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0116 0/0 1 0 1 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0117 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0118 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0119 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0120 0/0 1 0 1 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0121 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0122 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0123 0/0 1 0 0 0 0 1 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0124 0/0 1 0 0 0 0 1 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0125 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0126 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0127 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0128 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0129 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0130 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0131 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0132 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0133 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0134 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0135 0/0 1 0 1 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0136 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0137 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0138 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0139 0/0 1 0 1 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0140 0/0 1 0 1 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0141 0/0 1 0 0 0 0 1 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0142 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0143 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0144 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0145 0/0 1 0 0 0 0 1 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0146 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0147 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0148 0/0 1 0 0 0 0 1 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0149 0/0 1 0 0 0 0 1 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0150 0/0 1 0 1 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0151 0/0 1 0 1 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0152 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0153 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0154 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0155 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0156 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0157 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0158 0/0 1 0 0 0 0 1 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0159 0/0 1 0 0 0 1 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0160 0/0 1 0 0 0 0 1 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0161 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0162 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0163 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0164 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0165 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0166 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0167 0/0 1 0 0 0 0 1 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0168 0/0 1 0 1 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0169 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0170 0/0 1 0 0 0 0 1 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0171 0/0 1 0 0 0 1 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0172 0/0 1 0 0 0 1 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0173 0/0 1 0 0 0 0 1 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0174 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0175 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0176 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0177 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0178 0/0 1 0 1 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0179 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0180 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0181 0/0 1 0 0 0 0 1 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0182 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0183 0/0 1 0 1 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0184 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0185 1/0 1 0 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0186 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0187 0/0 1 0 0 0 0 1 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0188 0/0 1 0 1 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0189 0/0 1 0 1 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0190 0/0 1 0 1 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0191 0/0 1 0 1 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0192 0/0 1 0 1 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0193 0/0 1 0 1 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0194 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0195 0/0 1 0 0 0 1 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0196 0/0 1 0 0 0 1 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0197 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0198 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0199 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0200 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0201 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0202 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0203 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
g0204 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640

achapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
a0001c0001 0/0 4701 61 11 8 30 4 8 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0001c0002 0/0 4701 51 19 12 8 3 9 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0001c0003 1/1 4701 24 5 5 7 1 4 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0001c0004 0/0 4701 16 8 3 1 0 4 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0001c0005 0/0 4701 8 8 0 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0001c0007 0/0 4701 6 0 0 4 1 1 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0001c0009 0/0 4701 3 1 2 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0001c0010 0/0 4701 3 3 0 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0001c0011 0/0 4701 3 3 0 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0001c0014 0/0 4701 1 0 1 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0001c0015 0/0 4701 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0001c0016 0/0 4701 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0001c0018 0/0 4701 1 0 0 0 0 1 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0001c0019 0/0 4701 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0001c0022 0/0 4701 1 0 0 0 1 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0001c0023 0/0 4701 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0001c0024 0/0 4701 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0002c0006 0/0 4695 7 0 1 6 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0002c0026 0/0 4695 1 0 1 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0003c0008 0/0 4707 4 4 0 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0004c0012 0/0 4701 2 2 0 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0005c0013 0/0 4695 2 2 0 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0006c0025 0/0 4701 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0007c0020 0/0 4701 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0008c0017 0/0 4701 1 0 0 0 0 1 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0009c0021 0/0 4701 1 0 1 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0010c0027 0/0 4695 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640

acthapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
a0001c0001t0001 0/0 8011 35 7 6 18 2 2 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0001c0001t0003 0/0 8010 14 2 1 7 0 4 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0001c0001t0006 0/0 8009 5 2 0 1 0 2 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0001c0001t0016 0/0 8011 1 0 1 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0001c0001t0023 0/0 8010 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0001c0001t0030 0/0 8010 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0001c0001t0031 0/0 8010 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0001c0001t0036 0/0 8011 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0001c0001t0037 0/0 8010 1 0 0 0 1 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0001c0001t0038 0/0 8010 1 0 0 0 1 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0001c0002t0002 0/0 8008 33 6 10 8 3 6 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0001c0002t0005 0/0 8009 11 9 2 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0001c0002t0006 0/0 8009 1 0 0 0 0 1 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0001c0002t0013 0/0 8010 1 0 0 0 0 1 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0001c0002t0018 0/0 8010 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0001c0002t0028 0/0 8009 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0001c0002t0032 0/0 8009 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0001c0002t0033 0/0 8008 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0001c0002t0035 0/0 8008 1 0 0 0 0 1 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0001c0003t0004 0/1 8011 14 1 3 6 1 2 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0001c0003t0008 0/0 8010 2 0 2 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0001c0003t0011 0/0 8010 3 1 0 1 0 1 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0001c0003t0012 0/0 8011 2 2 0 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0001c0003t0015 1/0 8009 2 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0001c0003t0017 0/0 8011 1 0 0 0 0 1 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0001c0004t0001 0/0 8011 2 0 0 1 0 1 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0001c0004t0003 0/0 8010 2 1 1 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0001c0004t0005 0/0 8009 3 0 1 0 0 2 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0001c0004t0006 0/0 8009 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0001c0004t0010 0/0 8010 3 2 1 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0001c0004t0014 0/0 8009 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0001c0004t0022 0/0 8010 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0001c0004t0025 0/0 8009 1 0 0 0 0 1 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0001c0004t0027 0/0 8009 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0001c0004t0040 0/0 8010 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0001c0005t0009 0/0 8010 5 5 0 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0001c0005t0019 0/0 8010 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0001c0005t0026 0/0 8009 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0001c0005t0034 0/0 8008 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0001c0007t0001 0/0 8011 1 0 0 0 0 1 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0001c0007t0003 0/0 8010 3 0 0 2 1 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0001c0007t0004 0/0 8011 2 0 0 2 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0001c0009t0004 0/0 8011 2 0 2 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0001c0009t0041 0/0 8011 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0001c0010t0007 0/0 8010 2 2 0 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0001c0010t0013 0/0 8010 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0001c0011t0007 0/0 8010 3 3 0 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0001c0014t0002 0/0 8008 1 0 1 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0001c0015t0001 0/0 8011 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0001c0016t0020 0/0 8010 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0001c0018t0001 0/0 8011 1 0 0 0 0 1 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0001c0019t0014 0/0 8009 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0001c0022t0008 0/0 8010 1 0 0 0 1 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0001c0023t0002 0/0 8008 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0001c0024t0002 0/0 8008 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0002c0006t0003 0/0 8004 6 0 1 5 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0002c0006t0024 0/0 8004 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0002c0026t0008 0/0 8004 1 0 1 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0003c0008t0001 0/0 8017 4 4 0 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0004c0012t0008 0/0 8010 2 2 0 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0005c0013t0021 0/0 8008 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0005c0013t0029 0/0 8007 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0006c0025t0007 0/0 8010 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0007c0020t0039 0/0 8011 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0008c0017t0003 0/0 8010 1 0 0 0 0 1 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0009c0021t0003 0/0 8010 1 0 1 0 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640
a0010c0027t0003 0/0 8004 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE copy fasta chr1 8347404 8822640

actghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
a0001c0001t0001g0004 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0001t0001g0013 0/0 1 0 1 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0001t0001g0015 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0001t0001g0033 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0001t0001g0037 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0001t0001g0038 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0001t0001g0039 0/0 1 0 1 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0001t0001g0040 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0001t0001g0043 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0001t0001g0045 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0001t0001g0046 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0001t0001g0048 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0001t0001g0050 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0001t0001g0051 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0001t0001g0052 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0001t0001g0055 0/0 1 0 0 0 0 1 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0001t0001g0056 0/0 1 0 1 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0001t0001g0057 0/0 1 0 1 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0001t0001g0058 0/0 1 0 0 0 1 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0001t0001g0059 0/0 1 0 1 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0001t0001g0060 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0001t0001g0061 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0001t0001g0062 0/0 1 0 1 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0001t0001g0063 0/0 1 0 0 0 1 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0001t0001g0064 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0001t0001g0065 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0001t0001g0066 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0001t0001g0067 0/0 1 0 0 0 0 1 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0001t0001g0069 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0001t0001g0070 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0001t0001g0073 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0001t0001g0074 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0001t0001g0075 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0001t0001g0076 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0001t0001g0077 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0001t0003g0087 0/0 1 0 0 0 0 1 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0001t0003g0088 0/0 1 0 1 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0001t0003g0093 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0001t0003g0095 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0001t0003g0100 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0001t0003g0102 0/0 1 0 0 0 0 1 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0001t0003g0103 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0001t0003g0104 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0001t0003g0115 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0001t0003g0117 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0001t0003g0118 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0001t0003g0122 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0001t0003g0124 0/0 1 0 0 0 0 1 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0001t0003g0141 0/0 1 0 0 0 0 1 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0001t0006g0153 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0001t0006g0154 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0001t0006g0170 0/0 1 0 0 0 0 1 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0001t0006g0181 0/0 1 0 0 0 0 1 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0001t0006g0184 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0001t0016g0054 0/0 1 0 1 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0001t0023g0113 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0001t0030g0143 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0001t0031g0144 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0001t0036g0194 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0001t0037g0196 0/0 1 0 0 0 1 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0001t0038g0195 0/0 1 0 0 0 1 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0002t0002g0148 0/0 1 0 0 0 0 1 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0002t0002g0149 0/0 1 0 0 0 0 1 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0002t0002g0150 0/0 1 0 1 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0002t0002g0151 0/0 1 0 1 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0002t0002g0152 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0002t0002g0157 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0002t0002g0158 0/0 1 0 0 0 0 1 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0002t0002g0159 0/0 1 0 0 0 1 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0002t0002g0161 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0002t0002g0162 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0002t0002g0163 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0002t0002g0164 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0002t0002g0165 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0002t0002g0166 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0002t0002g0167 0/0 1 0 0 0 0 1 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0002t0002g0168 0/0 1 0 1 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0002t0002g0169 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0002t0002g0171 0/0 1 0 0 0 1 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0002t0002g0172 0/0 1 0 0 0 1 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0002t0002g0173 0/0 1 0 0 0 0 1 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0002t0002g0174 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0002t0002g0176 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0002t0002g0177 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0002t0002g0178 0/0 1 0 1 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0002t0002g0179 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0002t0002g0180 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0002t0002g0183 0/0 1 0 1 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0002t0002g0187 0/0 1 0 0 0 0 1 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0002t0002g0188 0/0 1 0 1 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0002t0002g0189 0/0 1 0 1 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0002t0002g0190 0/0 1 0 1 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0002t0002g0192 0/0 1 0 1 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0002t0002g0193 0/0 1 0 1 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0002t0005g0110 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0002t0005g0114 0/0 1 0 1 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0002t0005g0116 0/0 1 0 1 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0002t0005g0125 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0002t0005g0128 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0002t0005g0129 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0002t0005g0130 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0002t0005g0131 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0002t0005g0132 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0002t0005g0134 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0002t0005g0136 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0002t0006g0145 0/0 1 0 0 0 0 1 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0002t0013g0053 0/0 1 0 0 0 0 1 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0002t0018g0002 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0002t0028g0133 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0002t0032g0155 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0002t0033g0186 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0002t0035g0160 0/0 1 0 0 0 0 1 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0003t0004g0007 0/0 1 0 0 0 0 1 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0003t0004g0010 0/1 1 0 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0003t0004g0011 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0003t0004g0012 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0003t0004g0014 0/0 1 0 1 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0003t0004g0017 0/0 1 0 0 0 1 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0003t0004g0019 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0003t0004g0021 0/0 1 0 1 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0003t0004g0035 0/0 1 0 1 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0003t0004g0036 0/0 1 0 0 0 0 1 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0003t0004g0041 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0003t0004g0042 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0003t0004g0068 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0003t0004g0078 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0003t0008g0085 0/0 1 0 1 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0003t0008g0105 0/0 1 0 1 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0003t0011g0096 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0003t0011g0108 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0003t0011g0112 0/0 1 0 0 0 0 1 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0003t0012g0018 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0003t0012g0022 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0003t0015g0147 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0003t0015g0185 1/0 1 0 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0003t0017g0032 0/0 1 0 0 0 0 1 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0004t0001g0003 0/0 1 0 0 0 0 1 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0004t0001g0049 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0004t0003g0092 0/0 1 0 1 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0004t0003g0109 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0004t0005g0079 0/0 1 0 0 0 0 1 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0004t0005g0083 0/0 1 0 1 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0004t0005g0123 0/0 1 0 0 0 0 1 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0004t0006g0146 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0004t0010g0107 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0004t0010g0120 0/0 1 0 1 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0004t0010g0142 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0004t0014g0126 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0004t0022g0121 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0004t0025g0080 0/0 1 0 0 0 0 1 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0004t0027g0106 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0004t0040g0199 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0005t0009g0200 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0005t0009g0201 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0005t0009g0202 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0005t0009g0203 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0005t0009g0204 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0005t0019g0030 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0005t0026g0127 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0005t0034g0156 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0007t0001g0008 0/0 1 0 0 0 0 1 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0007t0003g0084 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0007t0003g0098 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0007t0003g0099 0/0 1 0 0 0 1 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0007t0004g0044 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0007t0004g0047 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0009t0004g0016 0/0 1 0 1 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0009t0004g0020 0/0 1 0 1 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0009t0041g0198 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0010t0007g0026 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0010t0007g0034 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0010t0013g0024 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0011t0007g0027 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0011t0007g0028 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0011t0007g0029 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0014t0002g0191 0/0 1 0 1 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0015t0001g0009 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0016t0020g0001 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0018t0001g0005 0/0 1 0 0 0 0 1 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0019t0014g0119 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0022t0008g0082 0/0 1 0 0 0 1 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0023t0002g0175 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0001c0024t0002g0182 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0002c0006t0003g0089 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0002c0006t0003g0090 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0002c0006t0003g0091 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0002c0006t0003g0094 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0002c0006t0003g0097 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0002c0006t0003g0139 0/0 1 0 1 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0002c0006t0024g0081 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0002c0026t0008g0140 0/0 1 0 1 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0003c0008t0001g0006 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0003c0008t0001g0031 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0003c0008t0001g0071 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0003c0008t0001g0072 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0004c0012t0008g0137 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0004c0012t0008g0138 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0005c0013t0021g0023 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0005c0013t0029g0111 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0006c0025t0007g0025 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0007c0020t0039g0197 0/0 1 1 0 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0008c0017t0003g0101 0/0 1 0 0 0 0 1 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0009c0021t0003g0135 0/0 1 0 1 0 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
a0010c0027t0003g0086 0/0 1 0 0 1 0 0 RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640

sampleid ID
haplotypeid
 ahapid chapid thapid ghapid gpopname popname regionname genename chr start end
HG00140 hp1 a0001 c0003 t0004 g0017 EUR GBR RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG00140 hp2 a0001 c0001 t0001 g0063 EUR GBR RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG00280 hp1 a0001 c0001 t0001 g0058 EUR FIN RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG00280 hp2 a0001 c0022 t0008 g0082 EUR FIN RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG00544 hp1 a0001 c0001 t0023 g0113 EAS CHS RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG00544 hp2 a0001 c0003 t0004 g0012 EAS CHS RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG00597 hp1 a0001 c0001 t0003 g0115 EAS CHS RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG00597 hp2 a0001 c0001 t0001 g0064 EAS CHS RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG00609 hp1 a0001 c0001 t0003 g0104 EAS CHS RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG00609 hp2 a0001 c0004 t0001 g0049 EAS CHS RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG00639 hp1 a0001 c0002 t0005 g0116 AMR PUR RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG00639 hp2 a0001 c0003 t0004 g0035 AMR PUR RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG00741 hp1 a0001 c0002 t0002 g0168 AMR PUR RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG00741 hp2 a0001 c0003 t0008 g0105 AMR PUR RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG01167 hp1 a0001 c0004 t0010 g0120 AMR PUR RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG01167 hp2 a0001 c0001 t0001 g0056 AMR PUR RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG01168 hp1 a0001 c0002 t0002 g0189 AMR PUR RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG01168 hp2 a0001 c0009 t0004 g0020 AMR PUR RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG01169 hp1 a0001 c0002 t0002 g0188 AMR PUR RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG01169 hp2 a0001 c0001 t0001 g0057 AMR PUR RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG01175 hp1 a0001 c0002 t0002 g0192 AMR PUR RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG01175 hp2 a0009 c0021 t0003 g0135 AMR PUR RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG01192 hp1 a0001 c0003 t0004 g0021 AMR PUR RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG01192 hp2 a0001 c0001 t0001 g0013 AMR PUR RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG01255 hp1 a0001 c0009 t0004 g0016 AMR CLM RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG01255 hp2 a0001 c0002 t0002 g0190 AMR CLM RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG01261 hp1 a0001 c0001 t0001 g0059 AMR CLM RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG01261 hp2 a0001 c0002 t0002 g0151 AMR CLM RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG01358 hp1 a0001 c0002 t0002 g0193 AMR CLM RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG01358 hp2 a0001 c0003 t0004 g0014 AMR CLM RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG01361 hp1 a0001 c0014 t0002 g0191 AMR CLM RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG01361 hp2 a0002 c0006 t0003 g0139 AMR CLM RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG01433 hp1 a0001 c0004 t0003 g0092 AMR CLM RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG01433 hp2 a0001 c0004 t0005 g0083 AMR CLM RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG01496 hp1 a0001 c0001 t0003 g0088 AMR CLM RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG01496 hp2 a0001 c0001 t0001 g0062 AMR CLM RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG01515 hp1 a0001 c0001 t0038 g0195 EUR IBS RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG01515 hp2 a0001 c0002 t0002 g0171 EUR IBS RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG01517 hp1 a0001 c0002 t0002 g0172 EUR IBS RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG01517 hp2 a0001 c0001 t0037 g0196 EUR IBS RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG01884 hp1 a0001 c0002 t0005 g0128 AFR ACB RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG01884 hp2 a0001 c0001 t0001 g0033 AFR ACB RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG01934 hp1 a0001 c0003 t0008 g0085 AMR PEL RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG01934 hp2 a0001 c0002 t0002 g0183 AMR PEL RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG01981 hp1 a0002 c0026 t0008 g0140 AMR PEL RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG01981 hp2 a0001 c0002 t0002 g0150 AMR PEL RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG02004 hp1 a0001 c0002 t0005 g0114 AMR PEL RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG02004 hp2 a0001 c0001 t0001 g0039 AMR PEL RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG02027 hp1 a0001 c0001 t0001 g0066 EAS KHV RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG02027 hp2 a0001 c0002 t0002 g0161 EAS KHV RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG02074 hp1 a0001 c0003 t0011 g0096 EAS KHV RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG02074 hp2 a0001 c0001 t0001 g0043 EAS KHV RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG02080 hp1 a0001 c0001 t0001 g0065 EAS KHV RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG02080 hp2 a0001 c0002 t0002 g0180 EAS KHV RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG02129 hp1 a0001 c0002 t0002 g0164 EAS KHV RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG02129 hp2 a0001 c0001 t0001 g0051 EAS KHV RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG02132 hp1 a0002 c0006 t0003 g0089 EAS KHV RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG02132 hp2 a0001 c0002 t0002 g0169 EAS KHV RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG02145 hp1 a0001 c0009 t0041 g0198 AFR ACB RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG02145 hp2 a0001 c0001 t0003 g0122 AFR ACB RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG02155 hp1 a0001 c0001 t0001 g0040 EAS CDX RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG02155 hp2 a0001 c0001 t0030 g0143 EAS CDX RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG02165 hp1 a0002 c0006 t0003 g0090 EAS CDX RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG02165 hp2 a0001 c0001 t0001 g0046 EAS CDX RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG02257 hp1 a0001 c0004 t0022 g0121 AFR ACB RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG02257 hp2 a0001 c0005 t0009 g0201 AFR ACB RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG02258 hp1 a0001 c0001 t0001 g0015 AFR ACB RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG02258 hp2 a0001 c0003 t0004 g0068 AFR ACB RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG02280 hp1 a0001 c0011 t0007 g0029 AFR ACB RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG02280 hp2 a0001 c0003 t0015 g0147 AFR ACB RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG02293 hp1 a0001 c0001 t0016 g0054 AMR PEL RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG02293 hp2 a0001 c0002 t0002 g0178 AMR PEL RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG02451 hp1 a0001 c0002 t0002 g0163 AFR ACB RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG02451 hp2 a0001 c0011 t0007 g0028 AFR ACB RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG02523 hp1 a0001 c0001 t0001 g0038 EAS KHV RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG02523 hp2 a0001 c0001 t0003 g0118 EAS KHV RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG02602 hp1 a0001 c0002 t0002 g0149 SAS PJL RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG02602 hp2 a0001 c0004 t0005 g0123 SAS PJL RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG02622 hp1 a0001 c0005 t0034 g0156 AFR GWD RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG02622 hp2 a0001 c0003 t0012 g0018 AFR GWD RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG02647 hp1 a0003 c0008 t0001 g0072 AFR GWD RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG02647 hp2 a0001 c0010 t0007 g0026 AFR GWD RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG02683 hp1 a0001 c0001 t0003 g0141 SAS PJL RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG02683 hp2 a0001 c0003 t0011 g0112 SAS PJL RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG02698 hp1 a0001 c0003 t0004 g0036 SAS PJL RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG02698 hp2 a0001 c0001 t0006 g0170 SAS PJL RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG02723 hp1 a0001 c0002 t0005 g0110 AFR GWD RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG02723 hp2 a0001 c0011 t0007 g0027 AFR GWD RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG02735 hp1 a0001 c0002 t0002 g0167 SAS PJL RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG02735 hp2 a0001 c0004 t0005 g0079 SAS PJL RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG02809 hp1 a0001 c0002 t0005 g0130 AFR GWD RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG02809 hp2 a0006 c0025 t0007 g0025 AFR GWD RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG02818 hp1 a0001 c0005 t0009 g0204 AFR GWD RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG02818 hp2 a0001 c0002 t0005 g0134 AFR GWD RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG02886 hp1 a0001 c0002 t0005 g0136 AFR GWD RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG02886 hp2 a0001 c0004 t0027 g0106 AFR GWD RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG02896 hp1 a0001 c0015 t0001 g0009 AFR GWD RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG02896 hp2 a0001 c0024 t0002 g0182 AFR GWD RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG02965 hp1 a0001 c0010 t0007 g0034 AFR ESN RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG02965 hp2 a0001 c0004 t0014 g0126 AFR ESN RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG02970 hp1 a0003 c0008 t0001 g0006 AFR ESN RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG02970 hp2 a0001 c0004 t0040 g0199 AFR ESN RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG02976 hp1 a0001 c0001 t0001 g0074 AFR ESN RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG02976 hp2 a0004 c0012 t0008 g0138 AFR ESN RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG03041 hp1 a0005 c0013 t0029 g0111 AFR GWD RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG03041 hp2 a0003 c0008 t0001 g0071 AFR GWD RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG03130 hp1 a0001 c0002 t0002 g0157 AFR ESN RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG03130 hp2 a0001 c0005 t0019 g0030 AFR ESN RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG03139 hp1 a0001 c0001 t0001 g0073 AFR ESN RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG03139 hp2 a0003 c0008 t0001 g0031 AFR ESN RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG03195 hp1 a0004 c0012 t0008 g0137 AFR ESN RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG03195 hp2 a0001 c0019 t0014 g0119 AFR ESN RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG03209 hp1 a0001 c0005 t0009 g0203 AFR MSL RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG03209 hp2 a0001 c0002 t0002 g0177 AFR MSL RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG03225 hp1 a0001 c0002 t0005 g0129 AFR MSL RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG03225 hp2 a0001 c0001 t0006 g0153 AFR MSL RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG03453 hp1 a0001 c0002 t0005 g0125 AFR MSL RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG03453 hp2 a0001 c0004 t0010 g0107 AFR MSL RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG03491 hp1 a0001 c0002 t0006 g0145 SAS PJL RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG03491 hp2 a0001 c0001 t0003 g0124 SAS PJL RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG03516 hp1 a0001 c0005 t0009 g0200 AFR ESN RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG03516 hp2 a0001 c0002 t0002 g0179 AFR ESN RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG03540 hp1 a0001 c0002 t0002 g0152 AFR GWD RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG03540 hp2 a0001 c0010 t0013 g0024 AFR GWD RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG03579 hp1 a0001 c0002 t0032 g0155 AFR MSL RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG03579 hp2 a0001 c0004 t0010 g0142 AFR MSL RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG03654 hp1 a0001 c0002 t0002 g0158 SAS PJL RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG03654 hp2 a0001 c0003 t0004 g0007 SAS PJL RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG03669 hp1 a0001 c0001 t0003 g0087 SAS PJL RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG03669 hp2 a0001 c0002 t0035 g0160 SAS PJL RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG03688 hp1 a0001 c0018 t0001 g0005 SAS STU RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG03688 hp2 a0001 c0001 t0003 g0102 SAS STU RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG03831 hp1 a0001 c0007 t0001 g0008 SAS BEB RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG03831 hp2 a0001 c0001 t0001 g0067 SAS BEB RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG04115 hp1 a0001 c0001 t0006 g0181 SAS STU RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG04115 hp2 a0001 c0003 t0017 g0032 SAS STU RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG04184 hp1 a0001 c0002 t0002 g0148 SAS BEB RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG04184 hp2 a0001 c0004 t0001 g0003 SAS BEB RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG04199 hp1 a0001 c0002 t0002 g0173 SAS STU RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG04199 hp2 a0001 c0001 t0001 g0055 SAS STU RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG04228 hp1 a0001 c0002 t0002 g0187 SAS STU RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG04228 hp2 a0001 c0004 t0025 g0080 SAS STU RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
NA18906 hp1 a0001 c0001 t0001 g0037 AFR YRI RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
NA18906 hp2 a0001 c0002 t0028 g0133 AFR YRI RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
NA18939 hp1 a0001 c0003 t0004 g0041 EAS JPT RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
NA18939 hp2 a0001 c0023 t0002 g0175 EAS JPT RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
NA18944 hp1 a0001 c0001 t0006 g0184 EAS JPT RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
NA18944 hp2 a0002 c0006 t0003 g0097 EAS JPT RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
NA18946 hp1 a0001 c0003 t0004 g0011 EAS JPT RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
NA18946 hp2 a0001 c0002 t0002 g0174 EAS JPT RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
NA18964 hp1 a0001 c0001 t0003 g0093 EAS JPT RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
NA18964 hp2 a0001 c0007 t0004 g0044 EAS JPT RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
NA18967 hp1 a0001 c0001 t0001 g0075 EAS JPT RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
NA18967 hp2 a0001 c0002 t0002 g0176 EAS JPT RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
NA18973 hp1 a0001 c0003 t0004 g0019 EAS JPT RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
NA18973 hp2 a0001 c0001 t0003 g0117 EAS JPT RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
NA18983 hp1 a0001 c0007 t0003 g0084 EAS JPT RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
NA18983 hp2 a0001 c0001 t0001 g0052 EAS JPT RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
NA18985 hp1 a0010 c0027 t0003 g0086 EAS JPT RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
NA18985 hp2 a0001 c0001 t0036 g0194 EAS JPT RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
NA18993 hp1 a0001 c0003 t0004 g0042 EAS JPT RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
NA18993 hp2 a0001 c0001 t0031 g0144 EAS JPT RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
NA19000 hp1 a0001 c0007 t0003 g0098 EAS JPT RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
NA19000 hp2 a0001 c0001 t0001 g0069 EAS JPT RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
NA19002 hp1 a0001 c0001 t0001 g0045 EAS JPT RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
NA19002 hp2 a0002 c0006 t0003 g0091 EAS JPT RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
NA19005 hp1 a0001 c0001 t0001 g0050 EAS JPT RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
NA19005 hp2 a0002 c0006 t0024 g0081 EAS JPT RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
NA19007 hp1 a0001 c0001 t0001 g0077 EAS JPT RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
NA19007 hp2 a0001 c0001 t0003 g0100 EAS JPT RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
NA19009 hp1 a0001 c0001 t0001 g0070 EAS JPT RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
NA19009 hp2 a0001 c0003 t0004 g0078 EAS JPT RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
NA19043 hp1 a0001 c0004 t0006 g0146 AFR LWK RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
NA19043 hp2 a0001 c0003 t0012 g0022 AFR LWK RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
NA19070 hp1 a0001 c0002 t0002 g0166 EAS JPT RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
NA19070 hp2 a0001 c0007 t0004 g0047 EAS JPT RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
NA19074 hp1 a0001 c0001 t0001 g0004 EAS JPT RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
NA19074 hp2 a0002 c0006 t0003 g0094 EAS JPT RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
NA19085 hp1 a0001 c0002 t0002 g0165 EAS JPT RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
NA19085 hp2 a0001 c0001 t0001 g0048 EAS JPT RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
NA19090 hp1 a0001 c0001 t0001 g0076 EAS JPT RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
NA19090 hp2 a0001 c0001 t0003 g0103 EAS JPT RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
NA20129 hp1 a0001 c0001 t0003 g0095 AFR ASW RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
NA20129 hp2 a0001 c0016 t0020 g0001 AFR ASW RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
NA20752 hp1 a0001 c0002 t0002 g0159 EUR TSI RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
NA20752 hp2 a0001 c0007 t0003 g0099 EUR TSI RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
NA20905 hp1 a0001 c0002 t0013 g0053 SAS GIH RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
NA20905 hp2 a0008 c0017 t0003 g0101 SAS GIH RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG02109 hp1 a0001 c0005 t0009 g0202 AFR ACB RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG02109 hp2 a0001 c0002 t0005 g0132 AFR ACB RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG02486 hp1 a0001 c0002 t0033 g0186 AFR ACB RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG02486 hp2 a0001 c0001 t0001 g0060 AFR ACB RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG02559 hp1 a0001 c0002 t0018 g0002 AFR ACB RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG02559 hp2 a0001 c0002 t0002 g0162 AFR ACB RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG03471 hp1 a0005 c0013 t0021 g0023 AFR MSL RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG03471 hp2 a0001 c0002 t0005 g0131 AFR MSL RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG06807 hp1 a0007 c0020 t0039 g0197 AFR USA RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
HG06807 hp2 a0001 c0003 t0011 g0108 AFR USA RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
NA20300 hp1 a0001 c0001 t0001 g0061 AFR USA RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
NA20300 hp2 a0001 c0001 t0006 g0154 AFR USA RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
NA21309 hp1 a0001 c0005 t0026 g0127 AFR LWK RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
NA21309 hp2 a0001 c0004 t0003 g0109 AFR LWK RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
homoSapiens_chm13v2 hp1 a0001 c0003 t0004 g0010 REF REF RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640
homoSapiens_grch38 hp1 a0001 c0003 t0015 g0185 REF REF RERE_chr1_8347404_8822640 RERE chr1 8347404 8822640

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
chr1:8355558 G
G
 T
T
 1 a0004
a0004
 2 HG02976.hp2
HG03195.hp1
HG02976.hp2
HG03195.hp1
 missense_variant MODERATE c.4528C>A
c.4528C>A
 p.Pro1510Thr
p.Pro1510Thr
 RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 22/23 5153/8009 4528/4701 1510/1566 chr1 8355558
chr1:8359808 G
G
 GCTCCTT
GCTCCTT
 1 a0003
a0003
 4 HG02647.hp1
HG02970.hp1
HG03041.hp2
others(1): Show 
HG02647.hp1
HG02970.hp1
HG03041.hp2
HG03139.hp2
 conservative_inframe_insertion MODERATE c.3568_3573dupAAGGAG
c.3568_3573dupAAGGAG
 p.Glu1191_Arg1192ins
others(6): Show 
p.Glu1191_Arg1192insLysGlu
 RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 19/23 4198/8009 3573/4701 1191/1566 chr1 8359808
chr1:8359808 GCTCCTT
GCTCCTT
 G
G
 1 a0005
a0005
 2 HG03041.hp1
HG03471.hp1
HG03041.hp1
HG03471.hp1
 conservative_inframe_deletion MODERATE c.3568_3573delAAGGAG
c.3568_3573delAAGGAG
 p.Lys1190_Glu1191del
p.Lys1190_Glu1191del
 RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 19/23 4198/8009 3568/4701 1190/1566 chr1 8359808
chr1:8359840 T
T
 C
C
 1 a0006
a0006
 1 HG02809.hp2
HG02809.hp2
 missense_variant MODERATE c.3542A>G
c.3542A>G
 p.Glu1181Gly
p.Glu1181Gly
 RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 19/23 4167/8009 3542/4701 1181/1566 chr1 8359840
chr1:8360265 G
G
 A
A
 1 a0007
a0007
 1 HG06807.hp1
HG06807.hp1
 missense_variant MODERATE c.3242C>T
c.3242C>T
 p.Ala1081Val
p.Ala1081Val
 RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 18/23 3867/8009 3242/4701 1081/1566 chr1 8360265
chr1:8360503 C
C
 T
T
 1 a0008
a0008
 1 NA20905.hp2
NA20905.hp2
 missense_variant MODERATE c.3004G>A
c.3004G>A
 p.Ala1002Thr
p.Ala1002Thr
 RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 18/23 3629/8009 3004/4701 1002/1566 chr1 8360503
chr1:8361136 G
G
 A
A
 1 a0009
a0009
 1 HG01175.hp2
HG01175.hp2
 missense_variant MODERATE c.2371C>T
c.2371C>T
 p.Pro791Ser
p.Pro791Ser
 RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 18/23 2996/8009 2371/4701 791/1566 chr1 8361136
chr1:8362777 T
T
 C
C
 1 a0010
a0010
 1 NA18985.hp1
NA18985.hp1
 missense_variant MODERATE c.1808A>G
c.1808A>G
 p.Asn603Ser
p.Asn603Ser
 RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 16/23 2433/8009 1808/4701 603/1566 chr1 8362777
chr1:8656262 CTCTTTG
CTCTTTG
 C
C
 2 a0002
a0010
a0002
a0010
 9 HG01361.hp2
HG01981.hp1
HG02132.hp1
others(6): Show 
HG01361.hp2
HG01981.hp1
HG02132.hp1
HG02165.hp1
NA18944.hp2
NA18985.hp1
NA19002.hp2
NA19005.hp2
NA19074.hp2
 disruptive_inframe_deletion MODERATE c.30_35delCAAAGA
c.30_35delCAAAGA
 p.Asp10_Lys11del
p.Asp10_Lys11del
 RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/23 660/8009 30/4701 10/1566 chr1 8656262

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
chr1:8355571 C
C
 A
A
 1 a0008c0017
a0008c0017
 1 NA20905.hp2
NA20905.hp2
 synonymous_variant LOW c.4515G>T
c.4515G>T
 p.Gly1505Gly
p.Gly1505Gly
 RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 22/23 5140/8009 4515/4701 1505/1566 chr1 8355571
chr1:8358272 G
G
 A
A
 1 a0001c0023
a0001c0023
 1 NA18939.hp2
NA18939.hp2
 synonymous_variant LOW c.4263C>T
c.4263C>T
 p.Asn1421Asn
p.Asn1421Asn
 RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 20/23 4888/8009 4263/4701 1421/1566 chr1 8358272
chr1:8358584 C
C
 A
A
 20 a0001c0001
a0001c0002
a0001c0004
others(17): Show 
a0001c0001
a0001c0002
a0001c0004
a0001c0005
a0001c0010
a0001c0011
a0001c0014
a0001c0015
a0001c0016
a0001c0018
a0001c0019
a0001c0023
a0001c0024
a0002c0006
a0003c0008
a0005c0013
a0006c0025
a0008c0017
a0009c0021
a0010c0027
 166 HG00140.hp2
HG00280.hp1
HG00544.hp1
others(163): Show 
HG00140.hp2
HG00280.hp1
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00741.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp2
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp2
NA18964.hp1
NA18967.hp1
NA18967.hp2
NA18973.hp2
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp2
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19043.hp1
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 synonymous_variant LOW c.3951G>T
c.3951G>T
 p.Arg1317Arg
p.Arg1317Arg
 RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 20/23 4576/8009 3951/4701 1317/1566 chr1 8358584
chr1:8358590 T
T
 C
C
 20 a0001c0001
a0001c0002
a0001c0004
others(17): Show 
a0001c0001
a0001c0002
a0001c0004
a0001c0005
a0001c0010
a0001c0011
a0001c0014
a0001c0015
a0001c0016
a0001c0018
a0001c0019
a0001c0023
a0001c0024
a0002c0006
a0003c0008
a0005c0013
a0006c0025
a0008c0017
a0009c0021
a0010c0027
 166 HG00140.hp2
HG00280.hp1
HG00544.hp1
others(163): Show 
HG00140.hp2
HG00280.hp1
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00741.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp2
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp2
NA18964.hp1
NA18967.hp1
NA18967.hp2
NA18973.hp2
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp2
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19043.hp1
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 synonymous_variant LOW c.3945A>G
c.3945A>G
 p.Arg1315Arg
p.Arg1315Arg
 RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 20/23 4570/8009 3945/4701 1315/1566 chr1 8358590
chr1:8358839 G
G
 A
A
 1 a0001c0019
a0001c0019
 1 HG03195.hp2
HG03195.hp2
 synonymous_variant LOW c.3696C>T
c.3696C>T
 p.Phe1232Phe
p.Phe1232Phe
 RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 20/23 4321/8009 3696/4701 1232/1566 chr1 8358839
chr1:8358860 A
A
 G
G
 1 a0001c0018
a0001c0018
 1 HG03688.hp1
HG03688.hp1
 synonymous_variant LOW c.3675T>C
c.3675T>C
 p.Pro1225Pro
p.Pro1225Pro
 RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 20/23 4300/8009 3675/4701 1225/1566 chr1 8358860
chr1:8360210 G
G
 A
A
 1 a0001c0024
a0001c0024
 1 HG02896.hp2
HG02896.hp2
 synonymous_variant LOW c.3297C>T
c.3297C>T
 p.Asp1099Asp
p.Asp1099Asp
 RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 18/23 3922/8009 3297/4701 1099/1566 chr1 8360210
chr1:8360504 G
G
 A
A
 1 a0001c0011
a0001c0011
 3 HG02280.hp1
HG02451.hp2
HG02723.hp2
HG02280.hp1
HG02451.hp2
HG02723.hp2
 synonymous_variant LOW c.3003C>T
c.3003C>T
 p.Pro1001Pro
p.Pro1001Pro
 RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 18/23 3628/8009 3003/4701 1001/1566 chr1 8360504
chr1:8360612 G
G
 A
A
 1 a0001c0005
a0001c0005
 8 HG02109.hp1
HG02257.hp2
HG02622.hp1
others(5): Show 
HG02109.hp1
HG02257.hp2
HG02622.hp1
HG02818.hp1
HG03130.hp2
HG03209.hp1
HG03516.hp1
NA21309.hp1
 synonymous_variant LOW c.2895C>T
c.2895C>T
 p.Pro965Pro
p.Pro965Pro
 RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 18/23 3520/8009 2895/4701 965/1566 chr1 8360612
chr1:8360906 G
G
 A
A
 3 a0001c0010
a0001c0011
a0006c0025
a0001c0010
a0001c0011
a0006c0025
 7 HG02280.hp1
HG02451.hp2
HG02647.hp2
others(4): Show 
HG02280.hp1
HG02451.hp2
HG02647.hp2
HG02723.hp2
HG02809.hp2
HG02965.hp1
HG03540.hp2
 synonymous_variant LOW c.2601C>T
c.2601C>T
 p.Gly867Gly
p.Gly867Gly
 RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 18/23 3226/8009 2601/4701 867/1566 chr1 8360906
chr1:8361032 C
C
 T
T
 8 a0001c0001
a0001c0007
a0001c0018
others(5): Show 
a0001c0001
a0001c0007
a0001c0018
a0002c0006
a0003c0008
a0008c0017
a0009c0021
a0010c0027
 82 HG00140.hp2
HG00280.hp1
HG00544.hp1
others(79): Show 
HG00140.hp2
HG00280.hp1
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG01167.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp2
HG01261.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02293.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp2
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03491.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04199.hp2
NA18906.hp1
NA18944.hp1
NA18944.hp2
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp2
 synonymous_variant LOW c.2475G>A
c.2475G>A
 p.Pro825Pro
p.Pro825Pro
 RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 18/23 3100/8009 2475/4701 825/1566 chr1 8361032
chr1:8361083 G
G
 T
T
 1 a0001c0015
a0001c0015
 1 HG02896.hp1
HG02896.hp1
 synonymous_variant LOW c.2424C>A
c.2424C>A
 p.Pro808Pro
p.Pro808Pro
 RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 18/23 3049/8009 2424/4701 808/1566 chr1 8361083
chr1:8361143 T
T
 C
C
 22 a0001c0001
a0001c0002
a0001c0004
others(19): Show 
a0001c0001
a0001c0002
a0001c0004
a0001c0005
a0001c0007
a0001c0009
a0001c0010
a0001c0011
a0001c0014
a0001c0018
a0001c0019
a0001c0022
a0001c0023
a0001c0024
a0002c0006
a0003c0008
a0005c0013
a0006c0025
a0007c0020
a0008c0017
a0009c0021
a0010c0027
 175 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(172): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00741.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp2
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp2
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19043.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 synonymous_variant LOW c.2364A>G
c.2364A>G
 p.Pro788Pro
p.Pro788Pro
 RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 18/23 2989/8009 2364/4701 788/1566 chr1 8361143
chr1:8365840 T
T
 C
C
 9 a0001c0002
a0001c0005
a0001c0010
others(6): Show 
a0001c0002
a0001c0005
a0001c0010
a0001c0011
a0001c0014
a0001c0022
a0001c0023
a0001c0024
a0006c0025
 70 HG00280.hp2
HG00639.hp1
HG00741.hp1
others(67): Show 
HG00280.hp2
HG00639.hp1
HG00741.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01255.hp2
HG01261.hp2
HG01358.hp1
HG01361.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01934.hp2
HG01981.hp2
HG02004.hp1
HG02027.hp2
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02257.hp2
HG02280.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02622.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG02965.hp1
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp2
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03669.hp2
HG04184.hp1
HG04199.hp1
HG04228.hp1
NA18906.hp2
NA18939.hp2
NA18946.hp2
NA18967.hp2
NA19070.hp1
NA19085.hp1
NA20752.hp1
NA20905.hp1
NA21309.hp1
 synonymous_variant LOW c.1419A>G
c.1419A>G
 p.Thr473Thr
p.Thr473Thr
 RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 13/23 2044/8009 1419/4701 473/1566 chr1 8365840
chr1:8624343 C
C
 T
T
 1 a0001c0014
a0001c0014
 1 HG01361.hp1
HG01361.hp1
 synonymous_variant LOW c.363G>A
c.363G>A
 p.Pro121Pro
p.Pro121Pro
 RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/23 988/8009 363/4701 121/1566 chr1 8624343

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
chr1:8352592 A
A
 C
C
 5 a0001c0005t0009
a0001c0005t0019
a0001c0005t0026
others(2): Show 
a0001c0005t0009
a0001c0005t0019
a0001c0005t0026
a0001c0005t0034
a0001c0016t0020
 9 HG02109.hp1
HG02257.hp2
HG02622.hp1
others(6): Show 
HG02109.hp1
HG02257.hp2
HG02622.hp1
HG02818.hp1
HG03130.hp2
HG03209.hp1
HG03516.hp1
NA20129.hp2
NA21309.hp1
 3_prime_UTR_variant MODIFIER c.*2495T>G
c.*2495T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 23/23 2495 chr1 8352592
chr1:8352770 T
T
 G
G
 1 a0001c0001t0023
a0001c0001t0023
 1 HG00544.hp1
HG00544.hp1
 3_prime_UTR_variant MODIFIER c.*2317A>C
c.*2317A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 23/23 2317 chr1 8352770
chr1:8352875 C
C
 T
T
 28 a0001c0001t0001
a0001c0001t0003
a0001c0001t0006
others(25): Show 
a0001c0001t0001
a0001c0001t0003
a0001c0001t0006
a0001c0001t0016
a0001c0001t0023
a0001c0001t0030
a0001c0001t0031
a0001c0001t0036
a0001c0001t0037
a0001c0001t0038
a0001c0002t0006
a0001c0002t0018
a0001c0004t0001
a0001c0004t0003
a0001c0004t0006
a0001c0004t0027
a0001c0007t0001
a0001c0007t0003
a0001c0015t0001
a0001c0018t0001
a0002c0006t0003
a0002c0006t0024
a0003c0008t0001
a0005c0013t0021
a0005c0013t0029
a0008c0017t0003
a0009c0021t0003
a0010c0027t0003
 91 HG00140.hp2
HG00280.hp1
HG00544.hp1
others(88): Show 
HG00140.hp2
HG00280.hp1
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02293.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02647.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG02896.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03471.hp1
HG03491.hp1
HG03491.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04184.hp2
HG04199.hp2
NA18906.hp1
NA18944.hp1
NA18944.hp2
NA18964.hp1
NA18967.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19043.hp1
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp2
NA21309.hp2
 3_prime_UTR_variant MODIFIER c.*2212G>A
c.*2212G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 23/23 2212 chr1 8352875
chr1:8352929 A
A
 G
G
 58 a0001c0001t0001
a0001c0001t0003
a0001c0001t0006
others(55): Show 
a0001c0001t0001
a0001c0001t0003
a0001c0001t0006
a0001c0001t0016
a0001c0001t0023
a0001c0001t0030
a0001c0001t0031
a0001c0001t0036
a0001c0001t0037
a0001c0001t0038
a0001c0002t0002
a0001c0002t0005
a0001c0002t0006
a0001c0002t0013
a0001c0002t0018
a0001c0002t0028
a0001c0002t0032
a0001c0002t0033
a0001c0002t0035
a0001c0003t0011
a0001c0003t0012
a0001c0004t0001
a0001c0004t0003
a0001c0004t0005
a0001c0004t0006
a0001c0004t0010
a0001c0004t0014
a0001c0004t0022
a0001c0004t0025
a0001c0004t0027
a0001c0004t0040
a0001c0005t0009
a0001c0005t0019
a0001c0005t0026
a0001c0005t0034
a0001c0007t0001
a0001c0007t0003
a0001c0009t0041
a0001c0010t0007
a0001c0010t0013
a0001c0011t0007
a0001c0014t0002
a0001c0015t0001
a0001c0016t0020
a0001c0018t0001
a0001c0019t0014
a0001c0023t0002
a0001c0024t0002
a0002c0006t0003
a0002c0006t0024
a0003c0008t0001
a0005c0013t0021
a0005c0013t0029
a0006c0025t0007
a0007c0020t0039
a0008c0017t0003
a0009c0021t0003
a0010c0027t0003
 177 HG00140.hp2
HG00280.hp1
HG00544.hp1
others(174): Show 
HG00140.hp2
HG00280.hp1
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00741.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp2
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp2
NA18964.hp1
NA18967.hp1
NA18967.hp2
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19043.hp1
NA19043.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 3_prime_UTR_variant MODIFIER c.*2158T>C
c.*2158T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 23/23 2158 chr1 8352929
chr1:8353257 A
A
 C
C
 20 a0001c0002t0002
a0001c0002t0005
a0001c0002t0013
others(17): Show 
a0001c0002t0002
a0001c0002t0005
a0001c0002t0013
a0001c0002t0028
a0001c0002t0032
a0001c0002t0033
a0001c0002t0035
a0001c0004t0005
a0001c0004t0010
a0001c0004t0022
a0001c0004t0025
a0001c0005t0009
a0001c0005t0019
a0001c0005t0026
a0001c0005t0034
a0001c0010t0013
a0001c0014t0002
a0001c0016t0020
a0001c0023t0002
a0001c0024t0002
 70 HG00639.hp1
HG00741.hp1
HG01167.hp1
others(67): Show 
HG00639.hp1
HG00741.hp1
HG01167.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01255.hp2
HG01261.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp2
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01934.hp2
HG01981.hp2
HG02004.hp1
HG02027.hp2
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02257.hp1
HG02257.hp2
HG02293.hp2
HG02451.hp1
HG02486.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG04184.hp1
HG04199.hp1
HG04228.hp1
HG04228.hp2
NA18906.hp2
NA18939.hp2
NA18946.hp2
NA18967.hp2
NA19070.hp1
NA19085.hp1
NA20129.hp2
NA20752.hp1
NA20905.hp1
NA21309.hp1
 3_prime_UTR_variant MODIFIER c.*1830T>G
c.*1830T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 23/23 1830 chr1 8353257
chr1:8353319 T
T
 A
A
 4 a0001c0005t0009
a0001c0005t0019
a0001c0005t0026
others(1): Show 
a0001c0005t0009
a0001c0005t0019
a0001c0005t0026
a0001c0005t0034
 8 HG02109.hp1
HG02257.hp2
HG02622.hp1
others(5): Show 
HG02109.hp1
HG02257.hp2
HG02622.hp1
HG02818.hp1
HG03130.hp2
HG03209.hp1
HG03516.hp1
NA21309.hp1
 3_prime_UTR_variant MODIFIER c.*1768A>T
c.*1768A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 23/23 1768 chr1 8353319
chr1:8353480 C
C
 A
A
 1 a0002c0006t0024
a0002c0006t0024
 1 NA19005.hp2
NA19005.hp2
 3_prime_UTR_variant MODIFIER c.*1607G>T
c.*1607G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 23/23 1607 chr1 8353480
chr1:8353604 C
C
 T
T
 1 a0001c0002t0033
a0001c0002t0033
 1 HG02486.hp1
HG02486.hp1
 3_prime_UTR_variant MODIFIER c.*1483G>A
c.*1483G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 23/23 1483 chr1 8353604
chr1:8353610 G
G
 A
A
 1 a0001c0001t0038
a0001c0001t0038
 1 HG01515.hp1
HG01515.hp1
 3_prime_UTR_variant MODIFIER c.*1477C>T
c.*1477C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 23/23 1477 chr1 8353610
chr1:8353660 G
G
 A
A
 1 a0001c0002t0035
a0001c0002t0035
 1 HG03669.hp2
HG03669.hp2
 3_prime_UTR_variant MODIFIER c.*1427C>T
c.*1427C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 23/23 1427 chr1 8353660
chr1:8353715 T
T
 C
C
 1 a0001c0016t0020
a0001c0016t0020
 1 NA20129.hp2
NA20129.hp2
 3_prime_UTR_variant MODIFIER c.*1372A>G
c.*1372A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 23/23 1372 chr1 8353715
chr1:8353779 A
A
 G
G
 20 a0001c0002t0002
a0001c0002t0005
a0001c0002t0013
others(17): Show 
a0001c0002t0002
a0001c0002t0005
a0001c0002t0013
a0001c0002t0028
a0001c0002t0033
a0001c0002t0035
a0001c0003t0017
a0001c0004t0005
a0001c0004t0014
a0001c0004t0025
a0001c0005t0009
a0001c0005t0019
a0001c0005t0026
a0001c0005t0034
a0001c0010t0013
a0001c0014t0002
a0001c0016t0020
a0001c0019t0014
a0001c0023t0002
a0001c0024t0002
 68 HG00639.hp1
HG00741.hp1
HG01168.hp1
others(65): Show 
HG00639.hp1
HG00741.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01255.hp2
HG01261.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp2
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01934.hp2
HG01981.hp2
HG02004.hp1
HG02027.hp2
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02257.hp2
HG02293.hp2
HG02451.hp1
HG02486.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG02965.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03669.hp2
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04228.hp1
HG04228.hp2
NA18906.hp2
NA18939.hp2
NA18946.hp2
NA18967.hp2
NA19070.hp1
NA19085.hp1
NA20129.hp2
NA20752.hp1
NA20905.hp1
NA21309.hp1
 3_prime_UTR_variant MODIFIER c.*1308T>C
c.*1308T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 23/23 1308 chr1 8353779
chr1:8354379 G
G
 A
A
 1 a0001c0002t0028
a0001c0002t0028
 1 NA18906.hp2
NA18906.hp2
 3_prime_UTR_variant MODIFIER c.*708C>T
c.*708C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 23/23 708 chr1 8354379
chr1:8354383 C
C
 T
T
 3 a0001c0002t0018
a0005c0013t0021
a0005c0013t0029
a0001c0002t0018
a0005c0013t0021
a0005c0013t0029
 3 HG02559.hp1
HG03041.hp1
HG03471.hp1
HG02559.hp1
HG03041.hp1
HG03471.hp1
 3_prime_UTR_variant MODIFIER c.*704G>A
c.*704G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 23/23 704 chr1 8354383
chr1:8354523 A
A
 G
G
 1 a0001c0004t0025
a0001c0004t0025
 1 HG04228.hp2
HG04228.hp2
 3_prime_UTR_variant MODIFIER c.*564T>C
c.*564T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 23/23 564 chr1 8354523
chr1:8354625 AT
AT
 A
A
 27 a0001c0002t0002
a0001c0002t0005
a0001c0002t0013
others(24): Show 
a0001c0002t0002
a0001c0002t0005
a0001c0002t0013
a0001c0002t0018
a0001c0002t0028
a0001c0002t0033
a0001c0002t0035
a0001c0004t0005
a0001c0004t0014
a0001c0004t0025
a0001c0004t0027
a0001c0004t0040
a0001c0005t0009
a0001c0005t0019
a0001c0005t0026
a0001c0005t0034
a0001c0010t0007
a0001c0010t0013
a0001c0011t0007
a0001c0014t0002
a0001c0016t0020
a0001c0019t0014
a0001c0023t0002
a0001c0024t0002
a0005c0013t0021
a0005c0013t0029
a0006c0025t0007
 78 HG00639.hp1
HG00741.hp1
HG01168.hp1
others(75): Show 
HG00639.hp1
HG00741.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01255.hp2
HG01261.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp2
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01934.hp2
HG01981.hp2
HG02004.hp1
HG02027.hp2
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02257.hp2
HG02280.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03669.hp2
HG04184.hp1
HG04199.hp1
HG04228.hp1
HG04228.hp2
NA18906.hp2
NA18939.hp2
NA18946.hp2
NA18967.hp2
NA19070.hp1
NA19085.hp1
NA20129.hp2
NA20752.hp1
NA20905.hp1
NA21309.hp1
 3_prime_UTR_variant MODIFIER c.*461delA
c.*461delA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 23/23 461 chr1 8354625
chr1:8354636 T
T
 A
A
 1 a0001c0009t0041
a0001c0009t0041
 1 HG02145.hp1
HG02145.hp1
 3_prime_UTR_variant MODIFIER c.*451A>T
c.*451A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 23/23 451 chr1 8354636
chr1:8354637 A
A
 T
T
 1 a0001c0004t0022
a0001c0004t0022
 1 HG02257.hp1
HG02257.hp1
 3_prime_UTR_variant MODIFIER c.*450T>A
c.*450T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 23/23 450 chr1 8354637
chr1:8354834 T
T
 TATCC
TATCC
 2 a0005c0013t0021
a0005c0013t0029
a0005c0013t0021
a0005c0013t0029
 2 HG03041.hp1
HG03471.hp1
HG03041.hp1
HG03471.hp1
 3_prime_UTR_variant MODIFIER c.*252_*253insGGAT
c.*252_*253insGGAT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 23/23 252 chr1 8354834
chr1:8355069 C
C
 T
T
 1 a0001c0001t0016
a0001c0001t0016
 1 HG02293.hp1
HG02293.hp1
 3_prime_UTR_variant MODIFIER c.*18G>A
c.*18G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 23/23 18 chr1 8355069
chr1:8817317 G
G
 A
A
 1 a0001c0001t0030
a0001c0001t0030
 1 HG02155.hp2
HG02155.hp2
 5_prime_UTR_variant MODIFIER c.-302C>T
c.-302C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/23 161020 chr1 8817317
chr1:8817405 G
G
 C
C
 1 a0001c0001t0031
a0001c0001t0031
 1 NA18993.hp2
NA18993.hp2
 5_prime_UTR_variant MODIFIER c.-390C>G
c.-390C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/23 161108 chr1 8817405
chr1:8817461 A
A
 AT
AT
 29 a0001c0001t0003
a0001c0001t0023
a0001c0001t0030
others(26): Show 
a0001c0001t0003
a0001c0001t0023
a0001c0001t0030
a0001c0001t0031
a0001c0001t0037
a0001c0001t0038
a0001c0002t0005
a0001c0002t0028
a0001c0003t0008
a0001c0003t0011
a0001c0004t0003
a0001c0004t0005
a0001c0004t0010
a0001c0004t0014
a0001c0004t0022
a0001c0004t0025
a0001c0004t0027
a0001c0005t0026
a0001c0007t0003
a0001c0019t0014
a0001c0022t0008
a0002c0006t0003
a0002c0006t0024
a0002c0026t0008
a0004c0012t0008
a0005c0013t0029
a0008c0017t0003
a0009c0021t0003
a0010c0027t0003
 68 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(65): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00741.hp2
HG01167.hp1
HG01175.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02074.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02523.hp2
HG02602.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02965.hp2
HG02976.hp2
HG03041.hp1
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03491.hp2
HG03579.hp2
HG03669.hp1
HG03688.hp2
HG04228.hp2
HG06807.hp2
NA18906.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
 5_prime_UTR_variant MODIFIER c.-447dupA
c.-447dupA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/23 161165 chr1 8817461
chr1:8817461 A
A
 ATT
ATT
 26 a0001c0001t0001
a0001c0001t0016
a0001c0001t0036
others(23): Show 
a0001c0001t0001
a0001c0001t0016
a0001c0001t0036
a0001c0002t0013
a0001c0002t0018
a0001c0003t0004
a0001c0003t0012
a0001c0003t0017
a0001c0004t0001
a0001c0004t0040
a0001c0005t0009
a0001c0005t0019
a0001c0007t0001
a0001c0007t0004
a0001c0009t0004
a0001c0009t0041
a0001c0010t0007
a0001c0010t0013
a0001c0011t0007
a0001c0015t0001
a0001c0016t0020
a0001c0018t0001
a0003c0008t0001
a0005c0013t0021
a0006c0025t0007
a0007c0020t0039
 87 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(84): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01496.hp2
HG01884.hp2
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03471.hp1
HG03516.hp1
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp1
NA18906.hp1
NA18939.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 5_prime_UTR_variant MODIFIER c.-448_-447dupAA
c.-448_-447dupAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/23 161165 chr1 8817461
chr1:8817516 G
G
 C
C
 1 a0001c0001t0036
a0001c0001t0036
 1 NA18985.hp2
NA18985.hp2
 5_prime_UTR_variant MODIFIER c.-501C>G
c.-501C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/23 161219 chr1 8817516
chr1:8817560 G
G
 A
A
 2 a0001c0001t0037
a0001c0001t0038
a0001c0001t0037
a0001c0001t0038
 2 HG01515.hp1
HG01517.hp2
HG01515.hp1
HG01517.hp2
 5_prime_UTR_premature_start_codon_gain_variant LOW c.-545C>T
c.-545C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/23 chr1 8817560
chr1:8817568 G
G
 A
A
 4 a0001c0004t0040
a0001c0005t0009
a0001c0009t0041
others(1): Show 
a0001c0004t0040
a0001c0005t0009
a0001c0009t0041
a0007c0020t0039
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 5_prime_UTR_premature_start_codon_gain_variant LOW c.-553C>T
c.-553C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/23 chr1 8817568

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
chr1:8355175 C
C
 T
T
 32 a0001c0001t0001g0013
a0001c0001t0003g0087
a0001c0001t0003g0088
others(29): Show 
a0001c0001t0001g0013
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0141
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0004t0006g0146
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0015t0001g0009
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0008c0017t0003g0101
a0010c0027t0003g0086
 32 HG00544.hp1
HG00597.hp1
HG00609.hp1
others(29): Show 
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG01192.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02683.hp1
HG02896.hp1
HG03669.hp1
HG03831.hp1
HG04115.hp1
NA18944.hp2
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.4668-55G>A
c.4668-55G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 22/22 chr1 8355175
chr1:8355200 C
C
 CA
CA
 2 a0001c0004t0014g0126
a0001c0019t0014g0119
a0001c0004t0014g0126
a0001c0019t0014g0119
 2 HG02965.hp2
HG03195.hp2
HG02965.hp2
HG03195.hp2
 intron_variant MODIFIER c.4668-81dupT
c.4668-81dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 22/22 chr1 8355200
chr1:8355230 C
C
 A
A
 36 a0001c0001t0001g0013
a0001c0001t0001g0033
a0001c0001t0001g0037
others(33): Show 
a0001c0001t0001g0013
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0141
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0032g0155
a0001c0004t0006g0146
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0015t0001g0009
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0008c0017t0003g0101
a0010c0027t0003g0086
 36 HG00544.hp1
HG00597.hp1
HG00609.hp1
others(33): Show 
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG01192.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG02132.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02683.hp1
HG02896.hp1
HG03579.hp1
HG03669.hp1
HG03831.hp1
HG04115.hp1
NA18906.hp1
NA18944.hp2
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.4668-110G>T
c.4668-110G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 22/22 chr1 8355230
chr1:8355358 G
G
 A
A
 66 a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
others(63): Show 
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0013g0053
a0001c0002t0028g0133
a0001c0002t0033g0186
a0001c0002t0035g0160
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0014g0126
a0001c0004t0025g0080
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0010t0013g0024
a0001c0014t0002g0191
a0001c0016t0020g0001
a0001c0019t0014g0119
a0001c0023t0002g0175
a0001c0024t0002g0182
 66 HG00639.hp1
HG00741.hp1
HG01168.hp1
others(63): Show 
HG00639.hp1
HG00741.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01255.hp2
HG01261.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp2
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01934.hp2
HG01981.hp2
HG02004.hp1
HG02027.hp2
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02257.hp2
HG02293.hp2
HG02451.hp1
HG02486.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG02965.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03669.hp2
HG04184.hp1
HG04199.hp1
HG04228.hp1
HG04228.hp2
NA18906.hp2
NA18939.hp2
NA18946.hp2
NA18967.hp2
NA19070.hp1
NA19085.hp1
NA20129.hp2
NA20752.hp1
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.4667+61C>T
c.4667+61C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 22/22 chr1 8355358
chr1:8355622 C
C
 T
T
 5 a0001c0001t0003g0095
a0001c0001t0003g0117
a0001c0001t0003g0118
others(2): Show 
a0001c0001t0003g0095
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0023g0113
a0001c0001t0031g0144
 5 HG00544.hp1
HG02523.hp2
NA18973.hp2
others(2): Show 
HG00544.hp1
HG02523.hp2
NA18973.hp2
NA18993.hp2
NA20129.hp1
 intron_variant MODIFIER c.4487-23G>A
c.4487-23G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 21/22 chr1 8355622
chr1:8355660 C
C
 T
T
 2 a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0188
a0001c0002t0002g0189
 2 HG01168.hp1
HG01169.hp1
HG01168.hp1
HG01169.hp1
 intron_variant MODIFIER c.4487-61G>A
c.4487-61G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 21/22 chr1 8355660
chr1:8355740 A
A
 T
T
 1 a0001c0016t0020g0001
a0001c0016t0020g0001
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.4487-141T>A
c.4487-141T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 21/22 chr1 8355740
chr1:8355857 G
G
 A
A
 1 a0001c0016t0020g0001
a0001c0016t0020g0001
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.4486+243C>T
c.4486+243C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 21/22 chr1 8355857
chr1:8355947 G
G
 A
A
 1 a0001c0016t0020g0001
a0001c0016t0020g0001
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.4486+153C>T
c.4486+153C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 21/22 chr1 8355947
chr1:8356387 G
G
 A
A
 1 a0001c0002t0002g0161
a0001c0002t0002g0161
 1 HG02027.hp2
HG02027.hp2
 intron_variant MODIFIER c.4340-141C>T
c.4340-141C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 20/22 chr1 8356387
chr1:8356897 G
G
 C
C
 49 a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
others(46): Show 
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0167
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0013g0053
a0001c0002t0028g0133
a0001c0002t0033g0186
a0001c0002t0035g0160
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0025g0080
a0001c0010t0013g0024
a0001c0014t0002g0191
a0001c0024t0002g0182
 49 HG00639.hp1
HG00741.hp1
HG01168.hp1
others(46): Show 
HG00639.hp1
HG00741.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01255.hp2
HG01261.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp2
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01934.hp2
HG01981.hp2
HG02004.hp1
HG02027.hp2
HG02080.hp2
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02293.hp2
HG02451.hp1
HG02486.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03669.hp2
HG04184.hp1
HG04199.hp1
HG04228.hp1
HG04228.hp2
NA18906.hp2
NA20752.hp1
NA20905.hp1
 intron_variant MODIFIER c.4340-651C>G
c.4340-651C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 20/22 chr1 8356897
chr1:8357319 C
C
 T
T
 1 a0001c0001t0001g0043
a0001c0001t0001g0043
 1 HG02074.hp2
HG02074.hp2
 intron_variant MODIFIER c.4339+877G>A
c.4339+877G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 20/22 chr1 8357319
chr1:8357352 T
T
 C
C
 1 a0001c0001t0003g0122
a0001c0001t0003g0122
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.4339+844A>G
c.4339+844A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 20/22 chr1 8357352
chr1:8357381 G
G
 A
A
 2 a0001c0004t0014g0126
a0001c0019t0014g0119
a0001c0004t0014g0126
a0001c0019t0014g0119
 2 HG02965.hp2
HG03195.hp2
HG02965.hp2
HG03195.hp2
 intron_variant MODIFIER c.4339+815C>T
c.4339+815C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 20/22 chr1 8357381
chr1:8357699 A
A
 G
G
 2 a0001c0001t0001g0061
a0001c0001t0006g0153
a0001c0001t0001g0061
a0001c0001t0006g0153
 2 HG03225.hp2
NA20300.hp1
HG03225.hp2
NA20300.hp1
 intron_variant MODIFIER c.4339+497T>C
c.4339+497T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 20/22 chr1 8357699
chr1:8357897 C
C
 T
T
 2 a0001c0004t0014g0126
a0001c0019t0014g0119
a0001c0004t0014g0126
a0001c0019t0014g0119
 2 HG02965.hp2
HG03195.hp2
HG02965.hp2
HG03195.hp2
 intron_variant MODIFIER c.4339+299G>A
c.4339+299G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 20/22 chr1 8357897
chr1:8358050 T
T
 A
A
 4 a0001c0002t0018g0002
a0001c0004t0027g0106
a0005c0013t0021g0023
others(1): Show 
a0001c0002t0018g0002
a0001c0004t0027g0106
a0005c0013t0021g0023
a0005c0013t0029g0111
 4 HG02559.hp1
HG02886.hp2
HG03041.hp1
others(1): Show 
HG02559.hp1
HG02886.hp2
HG03041.hp1
HG03471.hp1
 intron_variant MODIFIER c.4339+146A>T
c.4339+146A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 20/22 chr1 8358050
chr1:8358050 T
T
 C
C
 1 a0001c0011t0007g0029
a0001c0011t0007g0029
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.4339+146A>G
c.4339+146A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 20/22 chr1 8358050
chr1:8358159 C
C
 T
T
 8 a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
others(5): Show 
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
 8 HG02109.hp1
HG02257.hp2
HG02622.hp1
others(5): Show 
HG02109.hp1
HG02257.hp2
HG02622.hp1
HG02818.hp1
HG03130.hp2
HG03209.hp1
HG03516.hp1
NA21309.hp1
 intron_variant MODIFIER c.4339+37G>A
c.4339+37G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 20/22 chr1 8358159
chr1:8358959 G
G
 A
A
 1 a0001c0024t0002g0182
a0001c0024t0002g0182
 1 HG02896.hp2
HG02896.hp2
 intron_variant MODIFIER c.3619-43C>T
c.3619-43C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 19/22 chr1 8358959
chr1:8358971 T
T
 TG
TG
 6 a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
others(3): Show 
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0019t0014g0119
 6 HG01167.hp1
HG02257.hp1
HG02965.hp2
others(3): Show 
HG01167.hp1
HG02257.hp1
HG02965.hp2
HG03195.hp2
HG03453.hp2
HG03579.hp2
 intron_variant MODIFIER c.3619-56dupC
c.3619-56dupC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 19/22 chr1 8358971
chr1:8359099 G
G
 A
A
 1 a0001c0005t0034g0156
a0001c0005t0034g0156
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.3619-183C>T
c.3619-183C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 19/22 chr1 8359099
chr1:8359191 T
T
 C
C
 1 a0001c0009t0041g0198
a0001c0009t0041g0198
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.3619-275A>G
c.3619-275A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 19/22 chr1 8359191
chr1:8359302 C
C
 A
A
 2 a0004c0012t0008g0137
a0004c0012t0008g0138
a0004c0012t0008g0137
a0004c0012t0008g0138
 2 HG02976.hp2
HG03195.hp1
HG02976.hp2
HG03195.hp1
 intron_variant MODIFIER c.3619-386G>T
c.3619-386G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 19/22 chr1 8359302
chr1:8359342 C
C
 T
T
 14 a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
others(11): Show 
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0004t0003g0109
a0001c0004t0014g0126
a0001c0004t0040g0199
a0001c0019t0014g0119
 14 HG01884.hp1
HG02109.hp2
HG02559.hp1
others(11): Show 
HG01884.hp1
HG02109.hp2
HG02559.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02965.hp2
HG02970.hp2
HG03195.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp2
NA18906.hp2
NA21309.hp2
 intron_variant MODIFIER c.3618+422G>A
c.3618+422G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 19/22 chr1 8359342
chr1:8359350 C
C
 T
T
 1 a0001c0003t0004g0078
a0001c0003t0004g0078
 1 NA19009.hp2
NA19009.hp2
 intron_variant MODIFIER c.3618+414G>A
c.3618+414G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 19/22 chr1 8359350
chr1:8359360 A
A
 G
G
 13 a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
others(10): Show 
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0062
a0001c0001t0003g0102
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0002t0006g0145
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0035
a0001c0003t0015g0147
a0001c0018t0001g0005
 13 HG00639.hp2
HG01167.hp2
HG01169.hp2
others(10): Show 
HG00639.hp2
HG01167.hp2
HG01169.hp2
HG01496.hp2
HG02280.hp2
HG02698.hp2
HG03491.hp1
HG03654.hp2
HG03688.hp1
HG03688.hp2
HG04115.hp1
HG04199.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3618+404T>C
c.3618+404T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 19/22 chr1 8359360
chr1:8359424 C
C
 T
T
 1 a0001c0001t0001g0037
a0001c0001t0001g0037
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.3618+340G>A
c.3618+340G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 19/22 chr1 8359424
chr1:8359426 C
C
 T
T
 2 a0005c0013t0021g0023
a0005c0013t0029g0111
a0005c0013t0021g0023
a0005c0013t0029g0111
 2 HG03041.hp1
HG03471.hp1
HG03041.hp1
HG03471.hp1
 intron_variant MODIFIER c.3618+338G>A
c.3618+338G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 19/22 chr1 8359426
chr1:8359522 G
G
 A
A
 2 a0001c0002t0005g0125
a0001c0010t0013g0024
a0001c0002t0005g0125
a0001c0010t0013g0024
 2 HG03453.hp1
HG03540.hp2
HG03453.hp1
HG03540.hp2
 intron_variant MODIFIER c.3618+242C>T
c.3618+242C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 19/22 chr1 8359522
chr1:8359526 G
G
 A
A
 1 a0001c0001t0001g0038
a0001c0001t0001g0038
 1 HG02523.hp1
HG02523.hp1
 intron_variant MODIFIER c.3618+238C>T
c.3618+238C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 19/22 chr1 8359526
chr1:8359533 GCA
GCA
 G
G
 2 a0001c0001t0001g0050
a0001c0001t0001g0065
a0001c0001t0001g0050
a0001c0001t0001g0065
 2 HG02080.hp1
NA19005.hp1
HG02080.hp1
NA19005.hp1
 intron_variant MODIFIER c.3618+229_3618+230d
others(4): Show 
c.3618+229_3618+230delTG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 19/22 chr1 8359533
chr1:8359551 G
G
 A
A
 7 a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
others(4): Show 
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
 7 HG02109.hp1
HG02257.hp2
HG02622.hp1
others(4): Show 
HG02109.hp1
HG02257.hp2
HG02622.hp1
HG02818.hp1
HG03130.hp2
HG03209.hp1
NA21309.hp1
 intron_variant MODIFIER c.3618+213C>T
c.3618+213C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 19/22 chr1 8359551
chr1:8359569 T
T
 C
C
 100 a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0038
others(97): Show 
a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0095
a0001c0001t0003g0102
a0001c0001t0003g0124
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0033g0186
a0001c0002t0035g0160
a0001c0003t0004g0017
a0001c0003t0004g0042
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0025g0080
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0010t0013g0024
a0001c0014t0002g0191
a0001c0018t0001g0005
a0001c0023t0002g0175
a0001c0024t0002g0182
a0002c0006t0003g0139
a0009c0021t0003g0135
 100 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(97): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00597.hp2
HG00609.hp2
HG00639.hp1
HG00741.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01934.hp2
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02293.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02698.hp2
HG02735.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
NA18906.hp2
NA18939.hp2
NA18944.hp1
NA18946.hp2
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19085.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
 intron_variant MODIFIER c.3618+195A>G
c.3618+195A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 19/22 chr1 8359569
chr1:8359607 G
G
 A
A
 2 a0001c0004t0014g0126
a0001c0019t0014g0119
a0001c0004t0014g0126
a0001c0019t0014g0119
 2 HG02965.hp2
HG03195.hp2
HG02965.hp2
HG03195.hp2
 intron_variant MODIFIER c.3618+157C>T
c.3618+157C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 19/22 chr1 8359607
chr1:8359706 C
C
 T
T
 61 a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
others(58): Show 
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0152
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0179
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0192
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0033g0186
a0001c0002t0035g0160
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0010g0142
a0001c0004t0025g0080
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0014t0002g0191
a0001c0023t0002g0175
a0001c0024t0002g0182
a0006c0025t0007g0025
 61 HG00639.hp1
HG00741.hp1
HG01168.hp1
others(58): Show 
HG00639.hp1
HG00741.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01361.hp1
HG01433.hp2
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01981.hp2
HG02004.hp1
HG02027.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02257.hp2
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02647.hp2
HG02723.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG02965.hp1
HG02970.hp2
HG03130.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03471.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG04184.hp1
HG04199.hp1
HG04228.hp1
HG04228.hp2
NA18906.hp2
NA18939.hp2
NA18946.hp2
NA18967.hp2
NA19070.hp1
NA19085.hp1
NA20752.hp1
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.3618+58G>A
c.3618+58G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 19/22 chr1 8359706
chr1:8360024 G
G
 A
A
 2 a0001c0009t0041g0198
a0007c0020t0039g0197
a0001c0009t0041g0198
a0007c0020t0039g0197
 2 HG02145.hp1
HG06807.hp1
HG02145.hp1
HG06807.hp1
 intron_variant MODIFIER c.3396-38C>T
c.3396-38C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 18/22 chr1 8360024
chr1:8360036 G
G
 A
A
 1 a0001c0001t0001g0073
a0001c0001t0001g0073
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.3396-50C>T
c.3396-50C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 18/22 chr1 8360036
chr1:8361525 G
G
 A
A
 7 a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
others(4): Show 
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0006c0025t0007g0025
 7 HG02280.hp1
HG02451.hp2
HG02647.hp2
others(4): Show 
HG02280.hp1
HG02451.hp2
HG02647.hp2
HG02723.hp2
HG02809.hp2
HG02965.hp1
HG03540.hp2
 intron_variant MODIFIER c.2017-35C>T
c.2017-35C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 17/22 chr1 8361525
chr1:8361621 G
G
 A
A
 1 a0001c0002t0002g0169
a0001c0002t0002g0169
 1 HG02132.hp2
HG02132.hp2
 intron_variant MODIFIER c.2017-131C>T
c.2017-131C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 17/22 chr1 8361621
chr1:8361711 G
G
 A
A
 4 a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
others(1): Show 
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0022g0121
 4 HG01167.hp1
HG02257.hp1
HG03453.hp2
others(1): Show 
HG01167.hp1
HG02257.hp1
HG03453.hp2
HG03579.hp2
 intron_variant MODIFIER c.2016+52C>T
c.2016+52C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 17/22 chr1 8361711
chr1:8361906 C
C
 G
G
 10 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0009g0200
others(7): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
 10 HG02109.hp1
HG02257.hp2
HG02622.hp1
others(7): Show 
HG02109.hp1
HG02257.hp2
HG02622.hp1
HG02818.hp1
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03516.hp1
HG03579.hp1
NA21309.hp1
 intron_variant MODIFIER c.1903-30G>C
c.1903-30G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 16/22 chr1 8361906
chr1:8362324 T
T
 A
A
 5 a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
others(2): Show 
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0023g0113
a0001c0001t0031g0144
 5 HG00544.hp1
HG00597.hp1
HG02523.hp2
others(2): Show 
HG00544.hp1
HG00597.hp1
HG02523.hp2
NA18973.hp2
NA18993.hp2
 intron_variant MODIFIER c.1902+359A>T
c.1902+359A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 16/22 chr1 8362324
chr1:8362616 T
T
 C
C
 173 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(170): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0157
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0002t0033g0186
a0001c0002t0035g0160
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0014t0002g0191
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0001c0023t0002g0175
a0001c0024t0002g0182
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 173 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(170): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00741.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp2
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp2
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19043.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1902+67A>G
c.1902+67A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 16/22 chr1 8362616
chr1:8362645 G
G
 A
A
 1 a0001c0002t0005g0125
a0001c0002t0005g0125
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.1902+38C>T
c.1902+38C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 16/22 chr1 8362645
chr1:8363086 C
C
 T
T
 8 a0001c0002t0005g0110
a0001c0010t0007g0026
a0001c0010t0007g0034
others(5): Show 
a0001c0002t0005g0110
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0006c0025t0007g0025
 8 HG02280.hp1
HG02451.hp2
HG02647.hp2
others(5): Show 
HG02280.hp1
HG02451.hp2
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp2
HG02965.hp1
HG03540.hp2
 intron_variant MODIFIER c.1741-242G>A
c.1741-242G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 15/22 chr1 8363086
chr1:8363216 A
A
 C
C
 1 a0001c0002t0002g0163
a0001c0002t0002g0163
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.1741-372T>G
c.1741-372T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 15/22 chr1 8363216
chr1:8363450 A
A
 G
G
 173 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(170): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0157
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0002t0033g0186
a0001c0002t0035g0160
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0014t0002g0191
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0001c0023t0002g0175
a0001c0024t0002g0182
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 173 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(170): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00741.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp2
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp2
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19043.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1740+606T>C
c.1740+606T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 15/22 chr1 8363450
chr1:8363626 A
A
 G
G
 1 a0001c0001t0001g0039
a0001c0001t0001g0039
 1 HG02004.hp2
HG02004.hp2
 intron_variant MODIFIER c.1740+430T>C
c.1740+430T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 15/22 chr1 8363626
chr1:8363683 A
A
 T
T
 1 a0001c0001t0001g0073
a0001c0001t0001g0073
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.1740+373T>A
c.1740+373T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 15/22 chr1 8363683
chr1:8363764 C
C
 T
T
 1 a0001c0007t0004g0047
a0001c0007t0004g0047
 1 NA19070.hp2
NA19070.hp2
 intron_variant MODIFIER c.1740+292G>A
c.1740+292G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 15/22 chr1 8363764
chr1:8363817 G
G
 C
C
 62 a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
others(59): Show 
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0157
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0002t0033g0186
a0001c0002t0035g0160
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0014t0002g0191
a0001c0022t0008g0082
a0001c0023t0002g0175
a0001c0024t0002g0182
 62 HG00280.hp2
HG00639.hp1
HG00741.hp1
others(59): Show 
HG00280.hp2
HG00639.hp1
HG00741.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01255.hp2
HG01261.hp2
HG01358.hp1
HG01361.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01934.hp2
HG01981.hp2
HG02004.hp1
HG02027.hp2
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02257.hp2
HG02293.hp2
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02622.hp1
HG02735.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp2
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03654.hp1
HG03669.hp2
HG04184.hp1
HG04199.hp1
HG04228.hp1
NA18906.hp2
NA18939.hp2
NA18946.hp2
NA18967.hp2
NA19070.hp1
NA19085.hp1
NA20752.hp1
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.1740+239C>G
c.1740+239C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 15/22 chr1 8363817
chr1:8363829 T
T
 C
C
 1 a0001c0002t0005g0131
a0001c0002t0005g0131
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.1740+227A>G
c.1740+227A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 15/22 chr1 8363829
chr1:8363879 G
G
 A
A
 1 a0001c0022t0008g0082
a0001c0022t0008g0082
 1 HG00280.hp2
HG00280.hp2
 intron_variant MODIFIER c.1740+177C>T
c.1740+177C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 15/22 chr1 8363879
chr1:8363969 G
G
 A
A
 2 a0001c0003t0011g0096
a0001c0003t0011g0112
a0001c0003t0011g0096
a0001c0003t0011g0112
 2 HG02074.hp1
HG02683.hp2
HG02074.hp1
HG02683.hp2
 intron_variant MODIFIER c.1740+87C>T
c.1740+87C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 15/22 chr1 8363969
chr1:8363979 C
C
 G
G
 70 a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
others(67): Show 
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0157
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0002t0033g0186
a0001c0002t0035g0160
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0014t0002g0191
a0001c0022t0008g0082
a0001c0023t0002g0175
a0001c0024t0002g0182
a0006c0025t0007g0025
 70 HG00280.hp2
HG00639.hp1
HG00741.hp1
others(67): Show 
HG00280.hp2
HG00639.hp1
HG00741.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01255.hp2
HG01261.hp2
HG01358.hp1
HG01361.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01934.hp2
HG01981.hp2
HG02004.hp1
HG02027.hp2
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02257.hp2
HG02280.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02622.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG02965.hp1
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp2
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03669.hp2
HG04184.hp1
HG04199.hp1
HG04228.hp1
NA18906.hp2
NA18939.hp2
NA18946.hp2
NA18967.hp2
NA19070.hp1
NA19085.hp1
NA20752.hp1
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.1740+77G>C
c.1740+77G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 15/22 chr1 8363979
chr1:8364350 C
C
 A
A
 1 a0001c0004t0027g0106
a0001c0004t0027g0106
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.1541-95G>T
c.1541-95G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 14/22 chr1 8364350
chr1:8364910 TG
TG
 T
T
 8 a0001c0002t0005g0110
a0001c0010t0007g0026
a0001c0010t0007g0034
others(5): Show 
a0001c0002t0005g0110
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0006c0025t0007g0025
 8 HG02280.hp1
HG02451.hp2
HG02647.hp2
others(5): Show 
HG02280.hp1
HG02451.hp2
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp2
HG02965.hp1
HG03540.hp2
 intron_variant MODIFIER c.1448-73delC
c.1448-73delC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 13/22 chr1 8364910
chr1:8364918 A
A
 G
G
 3 a0001c0001t0001g0013
a0001c0001t0003g0115
a0001c0001t0006g0181
a0001c0001t0001g0013
a0001c0001t0003g0115
a0001c0001t0006g0181
 3 HG00597.hp1
HG01192.hp2
HG04115.hp1
HG00597.hp1
HG01192.hp2
HG04115.hp1
 intron_variant MODIFIER c.1448-80T>C
c.1448-80T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 13/22 chr1 8364918
chr1:8364919 G
G
 A
A
 3 a0001c0001t0001g0013
a0001c0001t0003g0115
a0001c0001t0006g0181
a0001c0001t0001g0013
a0001c0001t0003g0115
a0001c0001t0006g0181
 3 HG00597.hp1
HG01192.hp2
HG04115.hp1
HG00597.hp1
HG01192.hp2
HG04115.hp1
 intron_variant MODIFIER c.1448-81C>T
c.1448-81C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 13/22 chr1 8364919
chr1:8364924 GA
GA
 G
G
 166 a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0033
others(163): Show 
a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0157
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0002t0033g0186
a0001c0002t0035g0160
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0014t0002g0191
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0001c0023t0002g0175
a0001c0024t0002g0182
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 166 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(163): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00741.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp2
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp2
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19043.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1448-87delT
c.1448-87delT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 13/22 chr1 8364924
chr1:8364925 A
A
 G
G
 4 a0001c0001t0001g0013
a0001c0001t0003g0115
a0001c0001t0006g0181
others(1): Show 
a0001c0001t0001g0013
a0001c0001t0003g0115
a0001c0001t0006g0181
a0001c0001t0023g0113
 4 HG00544.hp1
HG00597.hp1
HG01192.hp2
others(1): Show 
HG00544.hp1
HG00597.hp1
HG01192.hp2
HG04115.hp1
 intron_variant MODIFIER c.1448-87T>C
c.1448-87T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 13/22 chr1 8364925
chr1:8364974 G
G
 A
A
 4 a0001c0004t0003g0109
a0001c0004t0040g0199
a0001c0009t0041g0198
others(1): Show 
a0001c0004t0003g0109
a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
 4 HG02145.hp1
HG02970.hp2
HG06807.hp1
others(1): Show 
HG02145.hp1
HG02970.hp2
HG06807.hp1
NA21309.hp2
 intron_variant MODIFIER c.1448-136C>T
c.1448-136C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 13/22 chr1 8364974
chr1:8365034 T
T
 C
C
 1 a0001c0004t0040g0199
a0001c0004t0040g0199
 1 HG02970.hp2
HG02970.hp2
 intron_variant MODIFIER c.1448-196A>G
c.1448-196A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 13/22 chr1 8365034
chr1:8365039 G
G
 C
C
 1 a0001c0001t0001g0040
a0001c0001t0001g0040
 1 HG02155.hp1
HG02155.hp1
 intron_variant MODIFIER c.1448-201C>G
c.1448-201C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 13/22 chr1 8365039
chr1:8365227 C
C
 G
G
 2 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0002t0002g0157
a0001c0002t0032g0155
 2 HG03130.hp1
HG03579.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.1448-389G>C
c.1448-389G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 13/22 chr1 8365227
chr1:8365437 C
C
 A
A
 4 a0001c0004t0003g0109
a0001c0004t0040g0199
a0001c0009t0041g0198
others(1): Show 
a0001c0004t0003g0109
a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
 4 HG02145.hp1
HG02970.hp2
HG06807.hp1
others(1): Show 
HG02145.hp1
HG02970.hp2
HG06807.hp1
NA21309.hp2
 intron_variant MODIFIER c.1447+375G>T
c.1447+375G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 13/22 chr1 8365437
chr1:8365603 T
T
 C
C
 1 a0001c0007t0004g0047
a0001c0007t0004g0047
 1 NA19070.hp2
NA19070.hp2
 intron_variant MODIFIER c.1447+209A>G
c.1447+209A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 13/22 chr1 8365603
chr1:8365633 C
C
 T
T
 1 a0001c0002t0002g0177
a0001c0002t0002g0177
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.1447+179G>A
c.1447+179G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 13/22 chr1 8365633
chr1:8365738 C
C
 T
T
 70 a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
others(67): Show 
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0157
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0002t0033g0186
a0001c0002t0035g0160
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0014t0002g0191
a0001c0022t0008g0082
a0001c0023t0002g0175
a0001c0024t0002g0182
a0006c0025t0007g0025
 70 HG00280.hp2
HG00639.hp1
HG00741.hp1
others(67): Show 
HG00280.hp2
HG00639.hp1
HG00741.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01255.hp2
HG01261.hp2
HG01358.hp1
HG01361.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01934.hp2
HG01981.hp2
HG02004.hp1
HG02027.hp2
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02257.hp2
HG02280.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02622.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG02965.hp1
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp2
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03669.hp2
HG04184.hp1
HG04199.hp1
HG04228.hp1
NA18906.hp2
NA18939.hp2
NA18946.hp2
NA18967.hp2
NA19070.hp1
NA19085.hp1
NA20752.hp1
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.1447+74G>A
c.1447+74G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 13/22 chr1 8365738
chr1:8366031 G
G
 A
A
 1 a0001c0001t0001g0073
a0001c0001t0001g0073
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.1285-57C>T
c.1285-57C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8366031
chr1:8366176 G
G
 A
A
 70 a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
others(67): Show 
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0157
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0002t0033g0186
a0001c0002t0035g0160
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0014t0002g0191
a0001c0022t0008g0082
a0001c0023t0002g0175
a0001c0024t0002g0182
a0006c0025t0007g0025
 70 HG00280.hp2
HG00639.hp1
HG00741.hp1
others(67): Show 
HG00280.hp2
HG00639.hp1
HG00741.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01255.hp2
HG01261.hp2
HG01358.hp1
HG01361.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01934.hp2
HG01981.hp2
HG02004.hp1
HG02027.hp2
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02257.hp2
HG02280.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02622.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG02965.hp1
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp2
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03669.hp2
HG04184.hp1
HG04199.hp1
HG04228.hp1
NA18906.hp2
NA18939.hp2
NA18946.hp2
NA18967.hp2
NA19070.hp1
NA19085.hp1
NA20752.hp1
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.1285-202C>T
c.1285-202C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8366176
chr1:8366259 C
C
 T
T
 1 a0001c0002t0002g0161
a0001c0002t0002g0161
 1 HG02027.hp2
HG02027.hp2
 intron_variant MODIFIER c.1285-285G>A
c.1285-285G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8366259
chr1:8366500 G
G
 A
A
 2 a0001c0004t0014g0126
a0001c0019t0014g0119
a0001c0004t0014g0126
a0001c0019t0014g0119
 2 HG02965.hp2
HG03195.hp2
HG02965.hp2
HG03195.hp2
 intron_variant MODIFIER c.1285-526C>T
c.1285-526C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8366500
chr1:8366599 T
T
 C
C
 1 a0001c0001t0001g0038
a0001c0001t0001g0038
 1 HG02523.hp1
HG02523.hp1
 intron_variant MODIFIER c.1285-625A>G
c.1285-625A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8366599
chr1:8366707 C
C
 G
G
 1 a0001c0007t0004g0044
a0001c0007t0004g0044
 1 NA18964.hp2
NA18964.hp2
 intron_variant MODIFIER c.1285-733G>C
c.1285-733G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8366707
chr1:8366824 C
C
 A
A
 1 a0001c0007t0004g0044
a0001c0007t0004g0044
 1 NA18964.hp2
NA18964.hp2
 intron_variant MODIFIER c.1285-850G>T
c.1285-850G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8366824
chr1:8366873 A
A
 G
G
 3 a0001c0002t0002g0148
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0148
a0001c0002t0002g0158
a0001c0002t0002g0159
 3 HG03654.hp1
HG04184.hp1
NA20752.hp1
HG03654.hp1
HG04184.hp1
NA20752.hp1
 intron_variant MODIFIER c.1285-899T>C
c.1285-899T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8366873
chr1:8366916 C
C
 A
A
 7 a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0003t0004g0011
others(4): Show 
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0019
a0001c0003t0004g0041
a0001c0003t0004g0042
 7 HG00544.hp2
HG01496.hp1
NA18939.hp1
others(4): Show 
HG00544.hp2
HG01496.hp1
NA18939.hp1
NA18946.hp1
NA18964.hp1
NA18973.hp1
NA18993.hp1
 intron_variant MODIFIER c.1285-942G>T
c.1285-942G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8366916
chr1:8366916 CA
CA
 C
C
 144 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(141): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0110
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0019t0014g0119
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 144 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(141): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18964.hp2
NA18967.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1285-943delT
c.1285-943delT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8366916
chr1:8366917 A
A
 C
C
 8 a0001c0001t0001g0033
a0001c0001t0003g0088
a0001c0001t0003g0093
others(5): Show 
a0001c0001t0001g0033
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0019
a0001c0003t0004g0041
a0001c0003t0004g0042
 8 HG00544.hp2
HG01496.hp1
HG01884.hp2
others(5): Show 
HG00544.hp2
HG01496.hp1
HG01884.hp2
NA18939.hp1
NA18946.hp1
NA18964.hp1
NA18973.hp1
NA18993.hp1
 intron_variant MODIFIER c.1285-943T>G
c.1285-943T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8366917
chr1:8366923 A
A
 C
C
 1 a0001c0002t0032g0155
a0001c0002t0032g0155
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.1285-949T>G
c.1285-949T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8366923
chr1:8366924 A
A
 C
C
 1 a0001c0002t0002g0164
a0001c0002t0002g0164
 1 HG02129.hp1
HG02129.hp1
 intron_variant MODIFIER c.1285-950T>G
c.1285-950T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8366924
chr1:8366927 A
A
 AC
AC
 2 a0001c0002t0002g0148
a0001c0002t0002g0157
a0001c0002t0002g0148
a0001c0002t0002g0157
 2 HG03130.hp1
HG04184.hp1
HG03130.hp1
HG04184.hp1
 intron_variant MODIFIER c.1285-954_1285-953i
others(3): Show 
c.1285-954_1285-953insG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8366927
chr1:8366928 A
A
 C
C
 43 a0001c0001t0001g0050
a0001c0001t0023g0113
a0001c0002t0002g0150
others(40): Show 
a0001c0001t0001g0050
a0001c0001t0023g0113
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0032g0155
a0001c0002t0033g0186
a0001c0002t0035g0160
a0001c0014t0002g0191
a0001c0022t0008g0082
a0001c0023t0002g0175
a0001c0024t0002g0182
 43 HG00280.hp2
HG00544.hp1
HG00639.hp1
others(40): Show 
HG00280.hp2
HG00544.hp1
HG00639.hp1
HG00741.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01255.hp2
HG01261.hp2
HG01358.hp1
HG01361.hp1
HG01515.hp2
HG01517.hp1
HG01934.hp2
HG01981.hp2
HG02004.hp1
HG02027.hp2
HG02080.hp2
HG02129.hp1
HG02132.hp2
HG02293.hp2
HG02451.hp1
HG02486.hp1
HG02559.hp2
HG02735.hp1
HG02896.hp2
HG03209.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03654.hp1
HG03669.hp2
HG04199.hp1
HG04228.hp1
NA18939.hp2
NA18946.hp2
NA18967.hp2
NA19005.hp1
NA19070.hp1
NA19085.hp1
NA20752.hp1
NA20905.hp1
 intron_variant MODIFIER c.1285-954T>G
c.1285-954T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8366928
chr1:8366929 C
C
 A
A
 44 a0001c0001t0023g0113
a0001c0002t0002g0148
a0001c0002t0002g0150
others(41): Show 
a0001c0001t0023g0113
a0001c0002t0002g0148
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0157
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0032g0155
a0001c0002t0033g0186
a0001c0002t0035g0160
a0001c0014t0002g0191
a0001c0022t0008g0082
a0001c0023t0002g0175
a0001c0024t0002g0182
 44 HG00280.hp2
HG00544.hp1
HG00639.hp1
others(41): Show 
HG00280.hp2
HG00544.hp1
HG00639.hp1
HG00741.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01255.hp2
HG01261.hp2
HG01358.hp1
HG01361.hp1
HG01515.hp2
HG01517.hp1
HG01934.hp2
HG01981.hp2
HG02004.hp1
HG02027.hp2
HG02080.hp2
HG02129.hp1
HG02132.hp2
HG02293.hp2
HG02451.hp1
HG02486.hp1
HG02559.hp2
HG02735.hp1
HG02896.hp2
HG03130.hp1
HG03209.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03654.hp1
HG03669.hp2
HG04184.hp1
HG04199.hp1
HG04228.hp1
NA18939.hp2
NA18946.hp2
NA18967.hp2
NA19070.hp1
NA19085.hp1
NA20752.hp1
NA20905.hp1
 intron_variant MODIFIER c.1285-955G>T
c.1285-955G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8366929
chr1:8366930 A
A
 C
C
 3 a0001c0003t0012g0018
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0003t0012g0018
a0001c0009t0004g0016
a0001c0009t0004g0020
 3 HG01168.hp2
HG01255.hp1
HG02622.hp2
HG01168.hp2
HG01255.hp1
HG02622.hp2
 intron_variant MODIFIER c.1285-956T>G
c.1285-956T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8366930
chr1:8366932 A
A
 C
C
 1 a0001c0002t0002g0157
a0001c0002t0002g0157
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.1285-958T>G
c.1285-958T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8366932
chr1:8366941 AC
AC
 A
A
 9 a0001c0001t0001g0060
a0001c0001t0001g0063
a0001c0010t0007g0026
others(6): Show 
a0001c0001t0001g0060
a0001c0001t0001g0063
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0006c0025t0007g0025
 9 HG00140.hp2
HG02280.hp1
HG02451.hp2
others(6): Show 
HG00140.hp2
HG02280.hp1
HG02451.hp2
HG02486.hp2
HG02647.hp2
HG02723.hp2
HG02809.hp2
HG02965.hp1
HG03540.hp2
 intron_variant MODIFIER c.1285-968delG
c.1285-968delG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8366941
chr1:8366942 C
C
 A
A
 164 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(161): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0157
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0002t0033g0186
a0001c0002t0035g0160
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0041g0198
a0001c0014t0002g0191
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0001c0023t0002g0175
a0001c0024t0002g0182
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0005c0013t0021g0023
a0005c0013t0029g0111
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 164 HG00280.hp1
HG00280.hp2
HG00544.hp1
others(161): Show 
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00741.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp2
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp1
HG02698.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp2
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19043.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1285-968G>T
c.1285-968G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8366942
chr1:8366943 C
C
 A
A
 1 a0001c0004t0001g0003
a0001c0004t0001g0003
 1 HG04184.hp2
HG04184.hp2
 intron_variant MODIFIER c.1285-969G>T
c.1285-969G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8366943
chr1:8366944 C
C
 A
A
 1 a0001c0002t0002g0173
a0001c0002t0002g0173
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.1285-970G>T
c.1285-970G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8366944
chr1:8367176 A
A
 G
G
 1 a0001c0002t0005g0110
a0001c0002t0005g0110
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.1285-1202T>C
c.1285-1202T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8367176
chr1:8367204 C
C
 T
T
 1 a0001c0001t0001g0065
a0001c0001t0001g0065
 1 HG02080.hp1
HG02080.hp1
 intron_variant MODIFIER c.1285-1230G>A
c.1285-1230G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8367204
chr1:8367405 C
C
 T
T
 1 a0001c0004t0027g0106
a0001c0004t0027g0106
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.1285-1431G>A
c.1285-1431G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8367405
chr1:8367537 C
C
 T
T
 1 a0001c0003t0011g0096
a0001c0003t0011g0096
 1 HG02074.hp1
HG02074.hp1
 intron_variant MODIFIER c.1285-1563G>A
c.1285-1563G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8367537
chr1:8367647 C
C
 T
T
 3 a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
 3 HG02145.hp1
HG02970.hp2
HG06807.hp1
HG02145.hp1
HG02970.hp2
HG06807.hp1
 intron_variant MODIFIER c.1285-1673G>A
c.1285-1673G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8367647
chr1:8367652 C
C
 A
A
 5 a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
others(2): Show 
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0014t0002g0191
 5 HG01168.hp1
HG01169.hp1
HG01255.hp2
others(2): Show 
HG01168.hp1
HG01169.hp1
HG01255.hp2
HG01361.hp1
HG04228.hp1
 intron_variant MODIFIER c.1285-1678G>T
c.1285-1678G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8367652
chr1:8367930 G
G
 A
A
 10 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0009g0200
others(7): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
 10 HG02109.hp1
HG02257.hp2
HG02622.hp1
others(7): Show 
HG02109.hp1
HG02257.hp2
HG02622.hp1
HG02818.hp1
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03516.hp1
HG03579.hp1
NA21309.hp1
 intron_variant MODIFIER c.1285-1956C>T
c.1285-1956C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8367930
chr1:8368328 G
G
 C
C
 1 a0001c0003t0011g0108
a0001c0003t0011g0108
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.1285-2354C>G
c.1285-2354C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8368328
chr1:8368374 T
T
 G
G
 1 a0001c0002t0002g0177
a0001c0002t0002g0177
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.1285-2400A>C
c.1285-2400A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8368374
chr1:8368470 T
T
 C
C
 1 a0001c0002t0005g0110
a0001c0002t0005g0110
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.1285-2496A>G
c.1285-2496A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8368470
chr1:8368483 GA
GA
 G
G
 40 a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0038
others(37): Show 
a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0070
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0003t0004g0035
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0018t0001g0005
a0002c0006t0003g0139
a0009c0021t0003g0135
 40 HG00140.hp2
HG00280.hp1
HG00597.hp2
others(37): Show 
HG00140.hp2
HG00280.hp1
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02486.hp2
HG02523.hp1
HG02698.hp2
HG03491.hp2
HG03688.hp1
HG03831.hp2
HG04199.hp2
NA18944.hp1
NA18964.hp2
NA18967.hp1
NA18985.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp2
 intron_variant MODIFIER c.1285-2510delT
c.1285-2510delT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8368483
chr1:8368580 G
G
 A
A
 3 a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0025g0080
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0025g0080
 3 HG01433.hp2
HG02602.hp2
HG04228.hp2
HG01433.hp2
HG02602.hp2
HG04228.hp2
 intron_variant MODIFIER c.1285-2606C>T
c.1285-2606C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8368580
chr1:8368666 A
A
 G
G
 1 a0001c0002t0033g0186
a0001c0002t0033g0186
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.1285-2692T>C
c.1285-2692T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8368666
chr1:8368815 C
C
 T
T
 4 a0001c0004t0003g0109
a0001c0004t0040g0199
a0001c0009t0041g0198
others(1): Show 
a0001c0004t0003g0109
a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
 4 HG02145.hp1
HG02970.hp2
HG06807.hp1
others(1): Show 
HG02145.hp1
HG02970.hp2
HG06807.hp1
NA21309.hp2
 intron_variant MODIFIER c.1285-2841G>A
c.1285-2841G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8368815
chr1:8368901 C
C
 A
A
 4 a0001c0004t0003g0109
a0001c0004t0040g0199
a0001c0009t0041g0198
others(1): Show 
a0001c0004t0003g0109
a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
 4 HG02145.hp1
HG02970.hp2
HG06807.hp1
others(1): Show 
HG02145.hp1
HG02970.hp2
HG06807.hp1
NA21309.hp2
 intron_variant MODIFIER c.1285-2927G>T
c.1285-2927G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8368901
chr1:8368901 CA
CA
 C
C
 5 a0001c0001t0001g0075
a0001c0004t0010g0107
a0001c0004t0010g0120
others(2): Show 
a0001c0001t0001g0075
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0022g0121
 5 HG01167.hp1
HG02257.hp1
HG03453.hp2
others(2): Show 
HG01167.hp1
HG02257.hp1
HG03453.hp2
HG03579.hp2
NA18967.hp1
 intron_variant MODIFIER c.1285-2928delT
c.1285-2928delT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8368901
chr1:8369164 G
G
 A
A
 41 a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0038
others(38): Show 
a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0018t0001g0005
a0002c0006t0003g0139
a0009c0021t0003g0135
 41 HG00140.hp2
HG00280.hp1
HG00597.hp2
others(38): Show 
HG00140.hp2
HG00280.hp1
HG00597.hp2
HG00609.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02486.hp2
HG02523.hp1
HG02698.hp2
HG03491.hp2
HG03688.hp1
HG03831.hp2
HG04199.hp2
NA18944.hp1
NA18964.hp2
NA18967.hp1
NA18983.hp2
NA18985.hp2
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp2
 intron_variant MODIFIER c.1285-3190C>T
c.1285-3190C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8369164
chr1:8369193 G
G
 C
C
 2 a0001c0004t0014g0126
a0001c0019t0014g0119
a0001c0004t0014g0126
a0001c0019t0014g0119
 2 HG02965.hp2
HG03195.hp2
HG02965.hp2
HG03195.hp2
 intron_variant MODIFIER c.1285-3219C>G
c.1285-3219C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8369193
chr1:8369253 T
T
 C
C
 4 a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
others(1): Show 
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0022g0121
 4 HG01167.hp1
HG02257.hp1
HG03453.hp2
others(1): Show 
HG01167.hp1
HG02257.hp1
HG03453.hp2
HG03579.hp2
 intron_variant MODIFIER c.1285-3279A>G
c.1285-3279A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8369253
chr1:8369411 A
A
 T
T
 1 a0001c0004t0014g0126
a0001c0004t0014g0126
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.1285-3437T>A
c.1285-3437T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8369411
chr1:8369508 T
T
 TA
TA
 13 a0001c0001t0003g0095
a0001c0001t0003g0122
a0001c0001t0006g0181
others(10): Show 
a0001c0001t0003g0095
a0001c0001t0003g0122
a0001c0001t0006g0181
a0001c0001t0030g0143
a0001c0003t0004g0078
a0001c0004t0006g0146
a0001c0004t0040g0199
a0001c0007t0003g0084
a0001c0007t0003g0098
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0026t0008g0140
a0007c0020t0039g0197
 13 HG01981.hp1
HG02132.hp1
HG02145.hp2
others(10): Show 
HG01981.hp1
HG02132.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02970.hp2
HG04115.hp1
HG06807.hp1
NA18983.hp1
NA19000.hp1
NA19009.hp2
NA19043.hp1
NA20129.hp1
 intron_variant MODIFIER c.1285-3535dupT
c.1285-3535dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8369508
chr1:8369508 T
T
 TAAAAAAA
others(4): Show 
TAAAAAAAAAAA
 1 a0001c0004t0010g0107
a0001c0004t0010g0107
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.1285-3545_1285-353
others(15): Show 
c.1285-3545_1285-3535dupTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8369508
chr1:8369508 T
T
 TAAAAAAA
others(5): Show 
TAAAAAAAAAAAA
 1 a0001c0004t0022g0121
a0001c0004t0022g0121
 1 HG02257.hp1
HG02257.hp1
 intron_variant MODIFIER c.1285-3546_1285-353
others(16): Show 
c.1285-3546_1285-3535dupTTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8369508
chr1:8369508 T
T
 TAAAAAAA
others(11): Show 
TAAAAAAAAAAAAAAAAAA
 1 a0001c0004t0010g0142
a0001c0004t0010g0142
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.1285-3552_1285-353
others(22): Show 
c.1285-3552_1285-3535dupTTTTTTTTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8369508
chr1:8369508 T
T
 TAAAAAAA
others(12): Show 
TAAAAAAAAAAAAAAAAAAA
 1 a0001c0004t0010g0120
a0001c0004t0010g0120
 1 HG01167.hp1
HG01167.hp1
 intron_variant MODIFIER c.1285-3553_1285-353
others(23): Show 
c.1285-3553_1285-3535dupTTTTTTTTTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8369508
chr1:8369508 TA
TA
 T
T
 106 a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0037
others(103): Show 
a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0003g0088
a0001c0001t0003g0115
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0158
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0193
a0001c0002t0005g0110
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0013g0053
a0001c0002t0028g0133
a0001c0002t0035g0160
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0003g0092
a0001c0004t0005g0083
a0001c0004t0014g0126
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0014t0002g0191
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0094
a0002c0006t0003g0139
a0004c0012t0008g0137
a0009c0021t0003g0135
 106 HG00140.hp2
HG00280.hp1
HG00544.hp2
others(103): Show 
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01934.hp2
HG01981.hp2
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp2
HG02602.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG02965.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp2
HG03491.hp2
HG03516.hp2
HG03540.hp1
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA19000.hp2
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA20129.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1285-3535delT
c.1285-3535delT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8369508
chr1:8369508 TAA
TAA
 T
T
 14 a0001c0001t0001g0045
a0001c0002t0002g0159
a0001c0002t0002g0166
others(11): Show 
a0001c0001t0001g0045
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0174
a0001c0002t0006g0145
a0001c0003t0004g0011
a0001c0004t0027g0106
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0022t0008g0082
a0001c0023t0002g0175
a0001c0024t0002g0182
a0004c0012t0008g0138
 14 HG00280.hp2
HG01168.hp2
HG01255.hp1
others(11): Show 
HG00280.hp2
HG01168.hp2
HG01255.hp1
HG02735.hp1
HG02886.hp2
HG02896.hp2
HG02976.hp2
HG03491.hp1
NA18939.hp2
NA18946.hp1
NA18946.hp2
NA19002.hp1
NA19070.hp1
NA20752.hp1
 intron_variant MODIFIER c.1285-3536_1285-353
others(6): Show 
c.1285-3536_1285-3535delTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8369508
chr1:8369508 TAAAAAAA
others(6): Show 
TAAAAAAAAAAAAA
 T
T
 7 a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
others(4): Show 
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0006c0025t0007g0025
 7 HG02280.hp1
HG02451.hp2
HG02647.hp2
others(4): Show 
HG02280.hp1
HG02451.hp2
HG02647.hp2
HG02723.hp2
HG02809.hp2
HG02965.hp1
HG03540.hp2
 intron_variant MODIFIER c.1285-3547_1285-353
others(17): Show 
c.1285-3547_1285-3535delTTTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8369508
chr1:8369508 TAAAAAAA
others(7): Show 
TAAAAAAAAAAAAAA
 T
T
 10 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0009g0200
others(7): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
 10 HG02109.hp1
HG02257.hp2
HG02622.hp1
others(7): Show 
HG02109.hp1
HG02257.hp2
HG02622.hp1
HG02818.hp1
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03516.hp1
HG03579.hp1
NA21309.hp1
 intron_variant MODIFIER c.1285-3548_1285-353
others(18): Show 
c.1285-3548_1285-3535delTTTTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8369508
chr1:8369509 A
A
 T
T
 5 a0001c0002t0002g0168
a0001c0002t0002g0176
a0001c0002t0002g0192
others(2): Show 
a0001c0002t0002g0168
a0001c0002t0002g0176
a0001c0002t0002g0192
a0001c0002t0018g0002
a0001c0002t0033g0186
 5 HG00741.hp1
HG01175.hp1
HG02486.hp1
others(2): Show 
HG00741.hp1
HG01175.hp1
HG02486.hp1
HG02559.hp1
NA18967.hp2
 intron_variant MODIFIER c.1285-3535T>A
c.1285-3535T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8369509
chr1:8369510 A
A
 T
T
 39 a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
others(36): Show 
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0158
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0193
a0001c0002t0005g0110
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0013g0053
a0001c0002t0028g0133
a0001c0002t0035g0160
a0001c0014t0002g0191
 39 HG00639.hp1
HG01168.hp1
HG01169.hp1
others(36): Show 
HG00639.hp1
HG01168.hp1
HG01169.hp1
HG01255.hp2
HG01261.hp2
HG01358.hp1
HG01361.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01934.hp2
HG01981.hp2
HG02027.hp2
HG02080.hp2
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02293.hp2
HG02451.hp1
HG02559.hp2
HG02602.hp1
HG02723.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp2
HG03516.hp2
HG03540.hp1
HG03654.hp1
HG03669.hp2
HG04184.hp1
HG04199.hp1
HG04228.hp1
NA18906.hp2
NA19085.hp1
NA20905.hp1
 intron_variant MODIFIER c.1285-3536T>A
c.1285-3536T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8369510
chr1:8369511 A
A
 T
T
 8 a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
others(5): Show 
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0174
a0001c0002t0006g0145
a0001c0022t0008g0082
a0001c0023t0002g0175
a0001c0024t0002g0182
 8 HG00280.hp2
HG02735.hp1
HG02896.hp2
others(5): Show 
HG00280.hp2
HG02735.hp1
HG02896.hp2
HG03491.hp1
NA18939.hp2
NA18946.hp2
NA19070.hp1
NA20752.hp1
 intron_variant MODIFIER c.1285-3537T>A
c.1285-3537T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8369511
chr1:8369512 A
A
 T
T
 1 a0001c0002t0005g0114
a0001c0002t0005g0114
 1 HG02004.hp1
HG02004.hp1
 intron_variant MODIFIER c.1285-3538T>A
c.1285-3538T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8369512
chr1:8369520 A
A
 G
G
 1 a0001c0003t0011g0096
a0001c0003t0011g0096
 1 HG02074.hp1
HG02074.hp1
 intron_variant MODIFIER c.1285-3546T>C
c.1285-3546T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8369520
chr1:8369522 A
A
 T
T
 7 a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
others(4): Show 
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0006c0025t0007g0025
 7 HG02280.hp1
HG02451.hp2
HG02647.hp2
others(4): Show 
HG02280.hp1
HG02451.hp2
HG02647.hp2
HG02723.hp2
HG02809.hp2
HG02965.hp1
HG03540.hp2
 intron_variant MODIFIER c.1285-3548T>A
c.1285-3548T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8369522
chr1:8369523 A
A
 T
T
 10 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0009g0200
others(7): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
 10 HG02109.hp1
HG02257.hp2
HG02622.hp1
others(7): Show 
HG02109.hp1
HG02257.hp2
HG02622.hp1
HG02818.hp1
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03516.hp1
HG03579.hp1
NA21309.hp1
 intron_variant MODIFIER c.1285-3549T>A
c.1285-3549T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8369523
chr1:8369535 A
A
 G
G
 40 a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0038
others(37): Show 
a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0018t0001g0005
a0002c0006t0003g0139
a0009c0021t0003g0135
 40 HG00140.hp2
HG00280.hp1
HG00597.hp2
others(37): Show 
HG00140.hp2
HG00280.hp1
HG00597.hp2
HG00609.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG02004.hp2
HG02027.hp1
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02486.hp2
HG02523.hp1
HG02698.hp2
HG03491.hp2
HG03688.hp1
HG03831.hp2
HG04199.hp2
NA18944.hp1
NA18964.hp2
NA18967.hp1
NA18983.hp2
NA18985.hp2
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp2
 intron_variant MODIFIER c.1285-3561T>C
c.1285-3561T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8369535
chr1:8369654 C
C
 T
T
 2 a0001c0004t0014g0126
a0001c0019t0014g0119
a0001c0004t0014g0126
a0001c0019t0014g0119
 2 HG02965.hp2
HG03195.hp2
HG02965.hp2
HG03195.hp2
 intron_variant MODIFIER c.1285-3680G>A
c.1285-3680G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8369654
chr1:8369839 G
G
 C
C
 90 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(87): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0018t0001g0005
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 90 HG00140.hp2
HG00280.hp1
HG00544.hp1
others(87): Show 
HG00140.hp2
HG00280.hp1
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02293.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp2
HG02735.hp2
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03491.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04184.hp2
HG04199.hp2
HG04228.hp2
NA18906.hp1
NA18944.hp1
NA18944.hp2
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19043.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.1285-3865C>G
c.1285-3865C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8369839
chr1:8369907 G
G
 A
A
 3 a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
 3 HG02145.hp1
HG02970.hp2
HG06807.hp1
HG02145.hp1
HG02970.hp2
HG06807.hp1
 intron_variant MODIFIER c.1285-3933C>T
c.1285-3933C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8369907
chr1:8370067 G
G
 A
A
 2 a0001c0001t0001g0061
a0001c0001t0006g0153
a0001c0001t0001g0061
a0001c0001t0006g0153
 2 HG03225.hp2
NA20300.hp1
HG03225.hp2
NA20300.hp1
 intron_variant MODIFIER c.1285-4093C>T
c.1285-4093C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8370067
chr1:8370136 C
C
 T
T
 2 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0002t0002g0157
a0001c0002t0032g0155
 2 HG03130.hp1
HG03579.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.1285-4162G>A
c.1285-4162G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8370136
chr1:8370164 G
G
 A
A
 42 a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
others(39): Show 
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0033g0186
a0001c0002t0035g0160
a0001c0014t0002g0191
a0001c0022t0008g0082
a0001c0023t0002g0175
a0001c0024t0002g0182
 42 HG00280.hp2
HG00639.hp1
HG00741.hp1
others(39): Show 
HG00280.hp2
HG00639.hp1
HG00741.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01255.hp2
HG01261.hp2
HG01358.hp1
HG01361.hp1
HG01515.hp2
HG01517.hp1
HG01934.hp2
HG01981.hp2
HG02004.hp1
HG02027.hp2
HG02080.hp2
HG02129.hp1
HG02132.hp2
HG02293.hp2
HG02451.hp1
HG02486.hp1
HG02559.hp2
HG02602.hp1
HG02735.hp1
HG02896.hp2
HG03209.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03654.hp1
HG03669.hp2
HG04184.hp1
HG04199.hp1
HG04228.hp1
NA18939.hp2
NA18946.hp2
NA18967.hp2
NA19070.hp1
NA19085.hp1
NA20752.hp1
NA20905.hp1
 intron_variant MODIFIER c.1285-4190C>T
c.1285-4190C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8370164
chr1:8370314 G
G
 A
A
 1 a0001c0024t0002g0182
a0001c0024t0002g0182
 1 HG02896.hp2
HG02896.hp2
 intron_variant MODIFIER c.1285-4340C>T
c.1285-4340C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8370314
chr1:8370534 C
C
 A
A
 52 a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
others(49): Show 
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0033g0186
a0001c0002t0035g0160
a0001c0014t0002g0191
a0001c0022t0008g0082
a0001c0023t0002g0175
a0001c0024t0002g0182
 52 HG00280.hp2
HG00639.hp1
HG00741.hp1
others(49): Show 
HG00280.hp2
HG00639.hp1
HG00741.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01255.hp2
HG01261.hp2
HG01358.hp1
HG01361.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01934.hp2
HG01981.hp2
HG02004.hp1
HG02027.hp2
HG02080.hp2
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02293.hp2
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02735.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03654.hp1
HG03669.hp2
HG04184.hp1
HG04199.hp1
HG04228.hp1
NA18906.hp2
NA18939.hp2
NA18946.hp2
NA18967.hp2
NA19070.hp1
NA19085.hp1
NA20752.hp1
NA20905.hp1
 intron_variant MODIFIER c.1285-4560G>T
c.1285-4560G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8370534
chr1:8370564 C
C
 G
G
 1 a0001c0004t0027g0106
a0001c0004t0027g0106
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.1285-4590G>C
c.1285-4590G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8370564
chr1:8370730 G
G
 C
C
 1 a0001c0004t0027g0106
a0001c0004t0027g0106
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.1285-4756C>G
c.1285-4756C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8370730
chr1:8370752 T
T
 C
C
 3 a0001c0003t0008g0105
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0003t0008g0105
a0001c0009t0004g0016
a0001c0009t0004g0020
 3 HG00741.hp2
HG01168.hp2
HG01255.hp1
HG00741.hp2
HG01168.hp2
HG01255.hp1
 intron_variant MODIFIER c.1285-4778A>G
c.1285-4778A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8370752
chr1:8370781 T
T
 G
G
 6 a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
others(3): Show 
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0019t0014g0119
 6 HG01167.hp1
HG02257.hp1
HG02965.hp2
others(3): Show 
HG01167.hp1
HG02257.hp1
HG02965.hp2
HG03195.hp2
HG03453.hp2
HG03579.hp2
 intron_variant MODIFIER c.1285-4807A>C
c.1285-4807A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8370781
chr1:8370814 A
A
 G
G
 6 a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
others(3): Show 
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0019t0014g0119
 6 HG01167.hp1
HG02257.hp1
HG02965.hp2
others(3): Show 
HG01167.hp1
HG02257.hp1
HG02965.hp2
HG03195.hp2
HG03453.hp2
HG03579.hp2
 intron_variant MODIFIER c.1285-4840T>C
c.1285-4840T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8370814
chr1:8370975 T
T
 C
C
 1 a0001c0001t0001g0038
a0001c0001t0001g0038
 1 HG02523.hp1
HG02523.hp1
 intron_variant MODIFIER c.1285-5001A>G
c.1285-5001A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8370975
chr1:8371045 C
C
 G
G
 70 a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
others(67): Show 
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0157
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0002t0033g0186
a0001c0002t0035g0160
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0014t0002g0191
a0001c0022t0008g0082
a0001c0023t0002g0175
a0001c0024t0002g0182
a0006c0025t0007g0025
 70 HG00280.hp2
HG00639.hp1
HG00741.hp1
others(67): Show 
HG00280.hp2
HG00639.hp1
HG00741.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01255.hp2
HG01261.hp2
HG01358.hp1
HG01361.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01934.hp2
HG01981.hp2
HG02004.hp1
HG02027.hp2
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02257.hp2
HG02280.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02622.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG02965.hp1
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp2
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03669.hp2
HG04184.hp1
HG04199.hp1
HG04228.hp1
NA18906.hp2
NA18939.hp2
NA18946.hp2
NA18967.hp2
NA19070.hp1
NA19085.hp1
NA20752.hp1
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.1285-5071G>C
c.1285-5071G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8371045
chr1:8371128 C
C
 A
A
 1 a0001c0002t0002g0162
a0001c0002t0002g0162
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.1285-5154G>T
c.1285-5154G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8371128
chr1:8371222 T
T
 C
C
 2 a0005c0013t0021g0023
a0005c0013t0029g0111
a0005c0013t0021g0023
a0005c0013t0029g0111
 2 HG03041.hp1
HG03471.hp1
HG03041.hp1
HG03471.hp1
 intron_variant MODIFIER c.1285-5248A>G
c.1285-5248A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8371222
chr1:8371231 G
G
 A
A
 2 a0004c0012t0008g0137
a0004c0012t0008g0138
a0004c0012t0008g0137
a0004c0012t0008g0138
 2 HG02976.hp2
HG03195.hp1
HG02976.hp2
HG03195.hp1
 intron_variant MODIFIER c.1285-5257C>T
c.1285-5257C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8371231
chr1:8371450 G
G
 A
A
 1 a0001c0002t0005g0110
a0001c0002t0005g0110
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.1285-5476C>T
c.1285-5476C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8371450
chr1:8371456 G
G
 A
A
 1 a0001c0002t0002g0163
a0001c0002t0002g0163
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.1285-5482C>T
c.1285-5482C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8371456
chr1:8371466 T
T
 C
C
 1 a0001c0004t0027g0106
a0001c0004t0027g0106
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.1285-5492A>G
c.1285-5492A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8371466
chr1:8371547 C
C
 T
T
 132 a0001c0001t0001g0013
a0001c0001t0001g0033
a0001c0001t0001g0037
others(129): Show 
a0001c0001t0001g0013
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0061
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0157
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0002t0033g0186
a0001c0002t0035g0160
a0001c0004t0001g0003
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0014t0002g0191
a0001c0019t0014g0119
a0001c0022t0008g0082
a0001c0023t0002g0175
a0001c0024t0002g0182
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0010c0027t0003g0086
 132 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(129): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00741.hp1
HG01167.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01192.hp2
HG01255.hp2
HG01261.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp2
HG01981.hp2
HG02004.hp1
HG02027.hp2
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03831.hp1
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18944.hp2
NA18946.hp2
NA18964.hp1
NA18967.hp2
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19070.hp1
NA19074.hp2
NA19085.hp1
NA19090.hp2
NA20129.hp1
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1285-5573G>A
c.1285-5573G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8371547
chr1:8371564 G
G
 A
A
 3 a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
 3 HG02145.hp1
HG02970.hp2
HG06807.hp1
HG02145.hp1
HG02970.hp2
HG06807.hp1
 intron_variant MODIFIER c.1285-5590C>T
c.1285-5590C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8371564
chr1:8371936 C
C
 T
T
 4 a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
others(1): Show 
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0022g0121
 4 HG01167.hp1
HG02257.hp1
HG03453.hp2
others(1): Show 
HG01167.hp1
HG02257.hp1
HG03453.hp2
HG03579.hp2
 intron_variant MODIFIER c.1285-5962G>A
c.1285-5962G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8371936
chr1:8372076 C
C
 T
T
 173 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(170): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0157
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0002t0033g0186
a0001c0002t0035g0160
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0014t0002g0191
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0001c0023t0002g0175
a0001c0024t0002g0182
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 173 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(170): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00741.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp2
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp2
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19043.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1285-6102G>A
c.1285-6102G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8372076
chr1:8372265 AGAAGCTG
others(5): Show 
AGAAGCTGACATG
 A
A
 1 a0001c0001t0001g0065
a0001c0001t0001g0065
 1 HG02080.hp1
HG02080.hp1
 intron_variant MODIFIER c.1285-6303_1285-629
others(16): Show 
c.1285-6303_1285-6292delCATGTCAGCTTC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8372265
chr1:8372332 G
G
 A
A
 1 a0001c0001t0001g0073
a0001c0001t0001g0073
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.1285-6358C>T
c.1285-6358C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8372332
chr1:8372507 C
C
 CATGTGTG
others(9): Show 
CATGTGTGTGTGTGTGT
 2 a0003c0008t0001g0071
a0003c0008t0001g0072
a0003c0008t0001g0071
a0003c0008t0001g0072
 2 HG02647.hp1
HG03041.hp2
HG02647.hp1
HG03041.hp2
 intron_variant MODIFIER c.1285-6534_1285-653
others(20): Show 
c.1285-6534_1285-6533insACACACACACACACAT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8372507
chr1:8372507 C
C
 CATGTGTG
others(13): Show 
CATGTGTGTGTGTGTGTGTGT
 2 a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0006
a0003c0008t0001g0031
 2 HG02970.hp1
HG03139.hp2
HG02970.hp1
HG03139.hp2
 intron_variant MODIFIER c.1285-6534_1285-653
others(24): Show 
c.1285-6534_1285-6533insACACACACACACACACACAT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8372507
chr1:8372507 C
C
 CGT
CGT
 7 a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0008g0085
others(4): Show 
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0008g0085
a0001c0004t0003g0109
a0001c0004t0040g0199
a0001c0010t0013g0024
a0007c0020t0039g0197
 7 HG01934.hp1
HG02698.hp1
HG02970.hp2
others(4): Show 
HG01934.hp1
HG02698.hp1
HG02970.hp2
HG03540.hp2
HG06807.hp1
NA18939.hp1
NA21309.hp2
 intron_variant MODIFIER c.1285-6535_1285-653
others(6): Show 
c.1285-6535_1285-6534dupAC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8372507
chr1:8372507 C
C
 CGTGT
CGTGT
 2 a0001c0003t0017g0032
a0001c0009t0004g0020
a0001c0003t0017g0032
a0001c0009t0004g0020
 2 HG01168.hp2
HG04115.hp2
HG01168.hp2
HG04115.hp2
 intron_variant MODIFIER c.1285-6537_1285-653
others(8): Show 
c.1285-6537_1285-6534dupACAC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8372507
chr1:8372507 C
C
 CGTGTGT
CGTGTGT
 3 a0001c0004t0014g0126
a0001c0009t0004g0016
a0001c0019t0014g0119
a0001c0004t0014g0126
a0001c0009t0004g0016
a0001c0019t0014g0119
 3 HG01255.hp1
HG02965.hp2
HG03195.hp2
HG01255.hp1
HG02965.hp2
HG03195.hp2
 intron_variant MODIFIER c.1285-6539_1285-653
others(10): Show 
c.1285-6539_1285-6534dupACACAC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8372507
chr1:8372507 C
C
 CGTGTGTG
others(1): Show 
CGTGTGTGT
 28 a0001c0001t0001g0013
a0001c0001t0001g0060
a0001c0001t0001g0063
others(25): Show 
a0001c0001t0001g0013
a0001c0001t0001g0060
a0001c0001t0001g0063
a0001c0001t0001g0067
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0100
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0164
a0001c0002t0032g0155
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0008c0017t0003g0101
a0010c0027t0003g0086
 28 HG00140.hp2
HG01192.hp2
HG01433.hp2
others(25): Show 
HG00140.hp2
HG01192.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG02129.hp1
HG02132.hp1
HG02165.hp1
HG02293.hp1
HG02486.hp2
HG02683.hp1
HG03491.hp2
HG03579.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp1
NA18944.hp2
NA18964.hp1
NA18983.hp1
NA18985.hp1
NA19000.hp1
NA19002.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.1285-6541_1285-653
others(12): Show 
c.1285-6541_1285-6534dupACACACAC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8372507
chr1:8372507 C
C
 CGTGTGTG
others(3): Show 
CGTGTGTGTGT
 24 a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0003g0102
others(21): Show 
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0023g0113
a0001c0002t0002g0151
a0001c0002t0002g0167
a0001c0002t0002g0178
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0193
a0001c0002t0005g0125
a0001c0003t0008g0105
a0001c0005t0009g0200
a0001c0005t0009g0204
a0001c0005t0034g0156
a0002c0006t0024g0081
 24 HG00544.hp1
HG00597.hp1
HG00609.hp1
others(21): Show 
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00741.hp2
HG01168.hp1
HG01169.hp1
HG01255.hp2
HG01261.hp2
HG01358.hp1
HG01884.hp2
HG02145.hp2
HG02293.hp2
HG02523.hp2
HG02622.hp1
HG02735.hp1
HG02818.hp1
HG03453.hp1
HG03516.hp1
HG03688.hp2
HG04228.hp1
NA18906.hp1
NA18973.hp2
NA19005.hp2
NA19090.hp2
 intron_variant MODIFIER c.1285-6543_1285-653
others(14): Show 
c.1285-6543_1285-6534dupACACACACAC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8372507
chr1:8372507 C
C
 CGTGTGTG
others(5): Show 
CGTGTGTGTGTGT
 29 a0001c0001t0001g0074
a0001c0001t0003g0095
a0001c0001t0031g0144
others(26): Show 
a0001c0001t0001g0074
a0001c0001t0003g0095
a0001c0001t0031g0144
a0001c0002t0002g0148
a0001c0002t0002g0150
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0163
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0168
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0180
a0001c0002t0002g0192
a0001c0002t0005g0116
a0001c0002t0033g0186
a0001c0004t0005g0079
a0001c0004t0005g0123
a0001c0004t0025g0080
a0001c0007t0004g0047
a0001c0014t0002g0191
a0001c0022t0008g0082
a0001c0023t0002g0175
a0001c0024t0002g0182
 29 HG00280.hp2
HG00639.hp1
HG00741.hp1
others(26): Show 
HG00280.hp2
HG00639.hp1
HG00741.hp1
HG01175.hp1
HG01361.hp1
HG01515.hp2
HG01517.hp1
HG01981.hp2
HG02027.hp2
HG02080.hp2
HG02451.hp1
HG02486.hp1
HG02602.hp2
HG02735.hp2
HG02896.hp2
HG02976.hp1
HG03209.hp2
HG03654.hp1
HG04184.hp1
HG04228.hp2
NA18939.hp2
NA18946.hp2
NA18967.hp2
NA18993.hp2
NA19070.hp1
NA19070.hp2
NA19085.hp1
NA20129.hp1
NA20752.hp1
 intron_variant MODIFIER c.1285-6545_1285-653
others(16): Show 
c.1285-6545_1285-6534dupACACACACACAC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8372507
chr1:8372507 C
C
 CGTGTGTG
others(7): Show 
CGTGTGTGTGTGTGT
 16 a0001c0001t0001g0015
a0001c0001t0001g0040
a0001c0001t0001g0045
others(13): Show 
a0001c0001t0001g0015
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0058
a0001c0001t0006g0153
a0001c0001t0036g0194
a0001c0002t0002g0152
a0001c0002t0002g0157
a0001c0002t0002g0162
a0001c0002t0002g0173
a0001c0002t0002g0183
a0001c0002t0005g0114
a0001c0002t0013g0053
a0001c0002t0035g0160
a0001c0004t0010g0142
a0001c0005t0026g0127
 16 HG00280.hp1
HG01934.hp2
HG02004.hp1
others(13): Show 
HG00280.hp1
HG01934.hp2
HG02004.hp1
HG02155.hp1
HG02258.hp1
HG02559.hp2
HG03130.hp1
HG03225.hp2
HG03540.hp1
HG03579.hp2
HG03669.hp2
HG04199.hp1
NA18985.hp2
NA19002.hp1
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.1285-6547_1285-653
others(18): Show 
c.1285-6547_1285-6534dupACACACACACACAC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8372507
chr1:8372507 C
C
 CGTGTGTG
others(9): Show 
CGTGTGTGTGTGTGTGT
 9 a0001c0001t0001g0059
a0001c0001t0001g0062
a0001c0001t0001g0073
others(6): Show 
a0001c0001t0001g0059
a0001c0001t0001g0062
a0001c0001t0001g0073
a0001c0002t0002g0179
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0019g0030
a0001c0007t0004g0044
 9 HG01261.hp1
HG01496.hp2
HG02109.hp1
others(6): Show 
HG01261.hp1
HG01496.hp2
HG02109.hp1
HG02257.hp2
HG03130.hp2
HG03139.hp1
HG03209.hp1
HG03516.hp2
NA18964.hp2
 intron_variant MODIFIER c.1285-6549_1285-653
others(20): Show 
c.1285-6549_1285-6534dupACACACACACACACAC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8372507
chr1:8372507 C
C
 CGTGTGTG
others(11): Show 
CGTGTGTGTGTGTGTGTGT
 9 a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
others(6): Show 
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0070
a0001c0002t0005g0110
a0001c0004t0010g0107
 9 HG01167.hp2
HG01169.hp2
HG02129.hp2
others(6): Show 
HG01167.hp2
HG01169.hp2
HG02129.hp2
HG02723.hp1
HG03453.hp2
HG04199.hp2
NA19005.hp1
NA19009.hp1
NA19085.hp2
 intron_variant MODIFIER c.1285-6551_1285-653
others(22): Show 
c.1285-6551_1285-6534dupACACACACACACACACAC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8372507
chr1:8372507 C
C
 CGTGTGTG
others(13): Show 
CGTGTGTGTGTGTGTGTGTGT
 10 a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0046
others(7): Show 
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0046
a0001c0001t0001g0052
a0001c0001t0001g0065
a0001c0001t0001g0069
a0001c0004t0001g0049
a0001c0004t0010g0120
a0001c0004t0022g0121
a0009c0021t0003g0135
 10 HG00609.hp2
HG01167.hp1
HG01175.hp2
others(7): Show 
HG00609.hp2
HG01167.hp1
HG01175.hp2
HG02004.hp2
HG02080.hp1
HG02165.hp2
HG02257.hp1
HG02523.hp1
NA18983.hp2
NA19000.hp2
 intron_variant MODIFIER c.1285-6553_1285-653
others(24): Show 
c.1285-6553_1285-6534dupACACACACACACACACACAC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8372507
chr1:8372507 C
C
 CGTGTGTG
others(15): Show 
CGTGTGTGTGTGTGTGTGTGTGT
 8 a0001c0001t0001g0077
a0001c0001t0030g0143
a0001c0002t0005g0128
others(5): Show 
a0001c0001t0001g0077
a0001c0001t0030g0143
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0004t0001g0003
a0001c0018t0001g0005
 8 HG01884.hp1
HG02109.hp2
HG02155.hp2
others(5): Show 
HG01884.hp1
HG02109.hp2
HG02155.hp2
HG03225.hp1
HG03471.hp2
HG03688.hp1
HG04184.hp2
NA19007.hp1
 intron_variant MODIFIER c.1285-6555_1285-653
others(26): Show 
c.1285-6555_1285-6534dupACACACACACACACACACACAC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8372507
chr1:8372507 C
C
 CGTGTGTG
others(17): Show 
CGTGTGTGTGTGTGTGTGTGTGTGT
 3 a0001c0001t0001g0004
a0001c0001t0001g0076
a0001c0001t0006g0154
a0001c0001t0001g0004
a0001c0001t0001g0076
a0001c0001t0006g0154
 3 NA19074.hp1
NA19090.hp1
NA20300.hp2
NA19074.hp1
NA19090.hp1
NA20300.hp2
 intron_variant MODIFIER c.1285-6557_1285-653
others(28): Show 
c.1285-6557_1285-6534dupACACACACACACACACACACACAC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8372507
chr1:8372507 C
C
 CGTGTGTG
others(19): Show 
CGTGTGTGTGTGTGTGTGTGTGTGTGT
 6 a0001c0001t0006g0170
a0001c0002t0005g0130
a0001c0002t0005g0134
others(3): Show 
a0001c0001t0006g0170
a0001c0002t0005g0130
a0001c0002t0005g0134
a0001c0002t0028g0133
a0001c0004t0003g0092
a0002c0006t0003g0139
 6 HG01361.hp2
HG01433.hp1
HG02698.hp2
others(3): Show 
HG01361.hp2
HG01433.hp1
HG02698.hp2
HG02809.hp1
HG02818.hp2
NA18906.hp2
 intron_variant MODIFIER c.1285-6559_1285-653
others(30): Show 
c.1285-6559_1285-6534dupACACACACACACACACACACACACAC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8372507
chr1:8372507 C
C
 CGTGTGTG
others(21): Show 
CGTGTGTGTGTGTGTGTGTGTGTGTGTGT
 3 a0001c0001t0001g0064
a0001c0001t0001g0075
a0001c0002t0005g0136
a0001c0001t0001g0064
a0001c0001t0001g0075
a0001c0002t0005g0136
 3 HG00597.hp2
HG02886.hp1
NA18967.hp1
HG00597.hp2
HG02886.hp1
NA18967.hp1
 intron_variant MODIFIER c.1285-6561_1285-653
others(32): Show 
c.1285-6561_1285-6534dupACACACACACACACACACACACACAC
AC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8372507
chr1:8372507 C
C
 CGTGTGTG
others(23): Show 
CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
 1 a0001c0001t0001g0066
a0001c0001t0001g0066
 1 HG02027.hp1
HG02027.hp1
 intron_variant MODIFIER c.1285-6563_1285-653
others(34): Show 
c.1285-6563_1285-6534dupACACACACACACACACACACACACAC
ACAC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8372507
chr1:8372507 C
C
 CGTGTGTG
others(31): Show 
CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
 1 a0001c0002t0018g0002
a0001c0002t0018g0002
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.1285-6534_1285-653
others(42): Show 
c.1285-6534_1285-6533insACACACACACACACACACACACACAC
ACACACACACAC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8372507
chr1:8372507 CGTGTGTG
others(1): Show 
CGTGTGTGT
 C
C
 2 a0001c0002t0002g0169
a0001c0002t0006g0145
a0001c0002t0002g0169
a0001c0002t0006g0145
 2 HG02132.hp2
HG03491.hp1
HG02132.hp2
HG03491.hp1
 intron_variant MODIFIER c.1285-6541_1285-653
others(12): Show 
c.1285-6541_1285-6534delACACACAC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8372507
chr1:8372518 G
G
 T
T
 2 a0005c0013t0021g0023
a0005c0013t0029g0111
a0005c0013t0021g0023
a0005c0013t0029g0111
 2 HG03041.hp1
HG03471.hp1
HG03041.hp1
HG03471.hp1
 intron_variant MODIFIER c.1285-6544C>A
c.1285-6544C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8372518
chr1:8372543 T
T
 TGTGTGTG
others(6): Show 
TGTGTGTGTGTGTG
 1 a0001c0002t0002g0149
a0001c0002t0002g0149
 1 HG02602.hp1
HG02602.hp1
 intron_variant MODIFIER c.1285-6570_1285-656
others(17): Show 
c.1285-6570_1285-6569insCACACACACACAC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8372543
chr1:8372543 T
T
 TGTGTGTG
others(12): Show 
TGTGTGTGTGTGTGTGTGTG
 1 a0001c0001t0001g0043
a0001c0001t0001g0043
 1 HG02074.hp2
HG02074.hp2
 intron_variant MODIFIER c.1285-6570_1285-656
others(23): Show 
c.1285-6570_1285-6569insCACACACACACACACACAC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8372543
chr1:8372543 T
T
 TGTGTGTG
others(18): Show 
TGTGTGTGTGTGTGTGTGTGTGTGTG
 1 a0001c0001t0006g0184
a0001c0001t0006g0184
 1 NA18944.hp1
NA18944.hp1
 intron_variant MODIFIER c.1285-6570_1285-656
others(29): Show 
c.1285-6570_1285-6569insCACACACACACACACACACACACAC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8372543
chr1:8372588 TA
TA
 T
T
 52 a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
others(49): Show 
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0033g0186
a0001c0002t0035g0160
a0001c0014t0002g0191
a0001c0022t0008g0082
a0001c0023t0002g0175
a0001c0024t0002g0182
 52 HG00280.hp2
HG00639.hp1
HG00741.hp1
others(49): Show 
HG00280.hp2
HG00639.hp1
HG00741.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01255.hp2
HG01261.hp2
HG01358.hp1
HG01361.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01934.hp2
HG01981.hp2
HG02004.hp1
HG02027.hp2
HG02080.hp2
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02293.hp2
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02735.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03654.hp1
HG03669.hp2
HG04184.hp1
HG04199.hp1
HG04228.hp1
NA18906.hp2
NA18939.hp2
NA18946.hp2
NA18967.hp2
NA19070.hp1
NA19085.hp1
NA20752.hp1
NA20905.hp1
 intron_variant MODIFIER c.1285-6615delT
c.1285-6615delT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8372588
chr1:8372593 G
G
 A
A
 42 a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0038
others(39): Show 
a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0018t0001g0005
a0002c0006t0003g0139
a0009c0021t0003g0135
 42 HG00140.hp2
HG00280.hp1
HG00597.hp2
others(39): Show 
HG00140.hp2
HG00280.hp1
HG00597.hp2
HG00609.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02486.hp2
HG02523.hp1
HG02698.hp2
HG03491.hp2
HG03688.hp1
HG03831.hp2
HG04184.hp2
HG04199.hp2
NA18944.hp1
NA18964.hp2
NA18967.hp1
NA18983.hp2
NA18985.hp2
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp2
 intron_variant MODIFIER c.1285-6619C>T
c.1285-6619C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8372593
chr1:8372710 A
A
 C
C
 1 a0001c0003t0011g0096
a0001c0003t0011g0096
 1 HG02074.hp1
HG02074.hp1
 intron_variant MODIFIER c.1285-6736T>G
c.1285-6736T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8372710
chr1:8372882 A
A
 C
C
 1 a0001c0004t0003g0109
a0001c0004t0003g0109
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.1285-6908T>G
c.1285-6908T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8372882
chr1:8373064 T
T
 C
C
 70 a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
others(67): Show 
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0157
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0002t0033g0186
a0001c0002t0035g0160
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0014t0002g0191
a0001c0022t0008g0082
a0001c0023t0002g0175
a0001c0024t0002g0182
a0006c0025t0007g0025
 70 HG00280.hp2
HG00639.hp1
HG00741.hp1
others(67): Show 
HG00280.hp2
HG00639.hp1
HG00741.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01255.hp2
HG01261.hp2
HG01358.hp1
HG01361.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01934.hp2
HG01981.hp2
HG02004.hp1
HG02027.hp2
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02257.hp2
HG02280.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02622.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG02965.hp1
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp2
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03669.hp2
HG04184.hp1
HG04199.hp1
HG04228.hp1
NA18906.hp2
NA18939.hp2
NA18946.hp2
NA18967.hp2
NA19070.hp1
NA19085.hp1
NA20752.hp1
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.1285-7090A>G
c.1285-7090A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8373064
chr1:8373123 C
C
 T
T
 7 a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
others(4): Show 
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0006c0025t0007g0025
 7 HG02280.hp1
HG02451.hp2
HG02647.hp2
others(4): Show 
HG02280.hp1
HG02451.hp2
HG02647.hp2
HG02723.hp2
HG02809.hp2
HG02965.hp1
HG03540.hp2
 intron_variant MODIFIER c.1285-7149G>A
c.1285-7149G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8373123
chr1:8373270 G
G
 A
A
 10 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0009g0200
others(7): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
 10 HG02109.hp1
HG02257.hp2
HG02622.hp1
others(7): Show 
HG02109.hp1
HG02257.hp2
HG02622.hp1
HG02818.hp1
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03516.hp1
HG03579.hp1
NA21309.hp1
 intron_variant MODIFIER c.1285-7296C>T
c.1285-7296C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8373270
chr1:8373687 T
T
 C
C
 90 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(87): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0018t0001g0005
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 90 HG00140.hp2
HG00280.hp1
HG00544.hp1
others(87): Show 
HG00140.hp2
HG00280.hp1
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02293.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp2
HG02735.hp2
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03491.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04184.hp2
HG04199.hp2
HG04228.hp2
NA18906.hp1
NA18944.hp1
NA18944.hp2
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19043.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.1285-7713A>G
c.1285-7713A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8373687
chr1:8373691 G
G
 A
A
 1 a0001c0002t0005g0114
a0001c0002t0005g0114
 1 HG02004.hp1
HG02004.hp1
 intron_variant MODIFIER c.1285-7717C>T
c.1285-7717C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8373691
chr1:8373940 T
T
 C
C
 7 a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
others(4): Show 
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0006c0025t0007g0025
 7 HG02280.hp1
HG02451.hp2
HG02647.hp2
others(4): Show 
HG02280.hp1
HG02451.hp2
HG02647.hp2
HG02723.hp2
HG02809.hp2
HG02965.hp1
HG03540.hp2
 intron_variant MODIFIER c.1285-7966A>G
c.1285-7966A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8373940
chr1:8373952 C
C
 T
T
 4 a0001c0001t0001g0015
a0001c0001t0001g0059
a0001c0001t0001g0060
others(1): Show 
a0001c0001t0001g0015
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0063
 4 HG00140.hp2
HG01261.hp1
HG02258.hp1
others(1): Show 
HG00140.hp2
HG01261.hp1
HG02258.hp1
HG02486.hp2
 intron_variant MODIFIER c.1285-7978G>A
c.1285-7978G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8373952
chr1:8373976 C
C
 G
G
 1 a0001c0016t0020g0001
a0001c0016t0020g0001
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.1285-8002G>C
c.1285-8002G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8373976
chr1:8374204 C
C
 T
T
 4 a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
others(1): Show 
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0022g0121
 4 HG01167.hp1
HG02257.hp1
HG03453.hp2
others(1): Show 
HG01167.hp1
HG02257.hp1
HG03453.hp2
HG03579.hp2
 intron_variant MODIFIER c.1285-8230G>A
c.1285-8230G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8374204
chr1:8374369 A
A
 AT
AT
 50 a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
others(47): Show 
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0033g0186
a0001c0002t0035g0160
a0001c0014t0002g0191
a0001c0022t0008g0082
a0001c0023t0002g0175
a0001c0024t0002g0182
 50 HG00280.hp2
HG00639.hp1
HG00741.hp1
others(47): Show 
HG00280.hp2
HG00639.hp1
HG00741.hp1
HG01169.hp1
HG01175.hp1
HG01255.hp2
HG01261.hp2
HG01358.hp1
HG01361.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01934.hp2
HG01981.hp2
HG02004.hp1
HG02027.hp2
HG02080.hp2
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02293.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02735.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03654.hp1
HG03669.hp2
HG04184.hp1
HG04199.hp1
HG04228.hp1
NA18906.hp2
NA18939.hp2
NA18946.hp2
NA18967.hp2
NA19070.hp1
NA19085.hp1
NA20752.hp1
NA20905.hp1
 intron_variant MODIFIER c.1285-8396dupA
c.1285-8396dupA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8374369
chr1:8374369 A
A
 T
T
 1 a0001c0004t0027g0106
a0001c0004t0027g0106
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.1285-8395T>A
c.1285-8395T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8374369
chr1:8374535 T
T
 A
A
 4 a0001c0004t0003g0109
a0001c0004t0040g0199
a0001c0009t0041g0198
others(1): Show 
a0001c0004t0003g0109
a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
 4 HG02145.hp1
HG02970.hp2
HG06807.hp1
others(1): Show 
HG02145.hp1
HG02970.hp2
HG06807.hp1
NA21309.hp2
 intron_variant MODIFIER c.1285-8561A>T
c.1285-8561A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8374535
chr1:8374631 C
C
 T
T
 3 a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0022g0121
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0022g0121
 3 HG01167.hp1
HG02257.hp1
HG03453.hp2
HG01167.hp1
HG02257.hp1
HG03453.hp2
 intron_variant MODIFIER c.1285-8657G>A
c.1285-8657G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8374631
chr1:8374879 C
C
 G
G
 1 a0001c0004t0027g0106
a0001c0004t0027g0106
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.1285-8905G>C
c.1285-8905G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8374879
chr1:8374986 C
C
 A
A
 49 a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0038
others(46): Show 
a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0018t0001g0005
a0002c0006t0003g0139
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0009c0021t0003g0135
 49 HG00140.hp2
HG00280.hp1
HG00597.hp2
others(46): Show 
HG00140.hp2
HG00280.hp1
HG00597.hp2
HG00609.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02486.hp2
HG02523.hp1
HG02647.hp1
HG02698.hp2
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03491.hp2
HG03688.hp1
HG03831.hp2
HG04199.hp2
NA18944.hp1
NA18964.hp2
NA18967.hp1
NA18983.hp2
NA18985.hp2
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.1285-9012G>T
c.1285-9012G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8374986
chr1:8375112 T
T
 TC
TC
 173 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(170): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0157
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0002t0033g0186
a0001c0002t0035g0160
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0014t0002g0191
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0001c0023t0002g0175
a0001c0024t0002g0182
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 173 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(170): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00741.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp2
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp2
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19043.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1285-9139_1285-913
others(5): Show 
c.1285-9139_1285-9138insG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8375112
chr1:8375431 G
G
 T
T
 2 a0005c0013t0021g0023
a0005c0013t0029g0111
a0005c0013t0021g0023
a0005c0013t0029g0111
 2 HG03041.hp1
HG03471.hp1
HG03041.hp1
HG03471.hp1
 intron_variant MODIFIER c.1285-9457C>A
c.1285-9457C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8375431
chr1:8375460 C
C
 G
G
 1 a0010c0027t0003g0086
a0010c0027t0003g0086
 1 NA18985.hp1
NA18985.hp1
 intron_variant MODIFIER c.1285-9486G>C
c.1285-9486G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8375460
chr1:8375462 G
G
 A
A
 1 a0001c0004t0005g0123
a0001c0004t0005g0123
 1 HG02602.hp2
HG02602.hp2
 intron_variant MODIFIER c.1285-9488C>T
c.1285-9488C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8375462
chr1:8375520 A
A
 ACTCAGCA
others(21): Show 
ACTCAGCAGCCACTGAAAATGCTTCCTCG
 56 a0001c0001t0001g0013
a0001c0001t0001g0033
a0001c0001t0001g0037
others(53): Show 
a0001c0001t0001g0013
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0061
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0110
a0001c0003t0004g0017
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0004t0040g0199
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0015t0001g0009
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0005c0013t0021g0023
a0005c0013t0029g0111
a0008c0017t0003g0101
a0010c0027t0003g0086
 56 HG00140.hp1
HG00544.hp1
HG00597.hp1
others(53): Show 
HG00140.hp1
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG01192.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01981.hp1
HG02004.hp2
HG02132.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp1
HG02523.hp2
HG02602.hp2
HG02647.hp1
HG02683.hp1
HG02723.hp1
HG02896.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03471.hp1
HG03669.hp1
HG03688.hp2
HG03831.hp1
HG04228.hp2
NA18906.hp1
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20300.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.1285-9574_1285-954
others(32): Show 
c.1285-9574_1285-9547dupCGAGGAAGCATTTTCAGTGGCTGCTG
AG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8375520
chr1:8375520 A
A
 ACTCAGCA
others(105): Show 
ACTCAGCAGCCACTGAAAATGCTTCCTCGCTCAGCAGCCACTGAAAATGC
TTCCTCACTCAGCAGCCACTGAAAATGCTTCCTCACTCAGCAGCCACTGA
AAATGCTTCCTCG
 1 a0001c0004t0005g0079
a0001c0004t0005g0079
 1 HG02735.hp2
HG02735.hp2
 intron_variant MODIFIER c.1285-9547_1285-954
others(116): Show 
c.1285-9547_1285-9546insCGAGGAAGCATTTTCAGTGGCTGCTG
AGTGAGGAAGCATTTTCAGTGGCTGCTGAGTGAGGAAGCATTTTCAGTGG
CTGCTGAGCGAGGAAGCATTTTCAGTGGCTGCTGAG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8375520
chr1:8375520 A
A
 ACTCAGCA
others(49): Show 
ACTCAGCAGCCACTGAAAATGCTTCCTCGCTCAGCAGCCACTGAAAATGC
TTCCTCG
 40 a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0040
others(37): Show 
a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0018t0001g0005
a0009c0021t0003g0135
 40 HG00140.hp2
HG00280.hp1
HG00597.hp2
others(37): Show 
HG00140.hp2
HG00280.hp1
HG00597.hp2
HG00609.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp2
HG01261.hp1
HG01433.hp1
HG01496.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02486.hp2
HG02698.hp2
HG03491.hp2
HG03688.hp1
HG03831.hp2
HG04115.hp1
HG04184.hp2
HG04199.hp2
NA18944.hp1
NA18964.hp2
NA18967.hp1
NA18983.hp2
NA18985.hp2
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp2
 intron_variant MODIFIER c.1285-9602_1285-954
others(60): Show 
c.1285-9602_1285-9547dupCGAGGAAGCATTTTCAGTGGCTGCTG
AGCGAGGAAGCATTTTCAGTGGCTGCTGAG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8375520
chr1:8375520 A
A
 ACTCAGCA
others(77): Show 
ACTCAGCAGCCACTGAAAATGCTTCCTCGCTCAGCAGCCACTGAAAATGC
TTCCTCGCTCAGCAGCCACTGAAAATGCTTCCTCG
 1 a0001c0004t0010g0107
a0001c0004t0010g0107
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.1285-9630_1285-954
others(88): Show 
c.1285-9630_1285-9547dupCGAGGAAGCATTTTCAGTGGCTGCTG
AGCGAGGAAGCATTTTCAGTGGCTGCTGAGCGAGGAAGCATTTTCAGTGG
CTGCTGAG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8375520
chr1:8375604 G
G
 A
A
 49 a0001c0002t0002g0149
a0001c0002t0002g0151
a0001c0002t0002g0152
others(46): Show 
a0001c0002t0002g0149
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0168
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0176
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0033g0186
a0001c0002t0035g0160
a0001c0005t0009g0200
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0014t0002g0191
a0001c0022t0008g0082
a0001c0023t0002g0175
a0001c0024t0002g0182
 49 HG00280.hp2
HG00639.hp1
HG00741.hp1
others(46): Show 
HG00280.hp2
HG00639.hp1
HG00741.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01255.hp2
HG01261.hp2
HG01358.hp1
HG01361.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01934.hp2
HG02004.hp1
HG02027.hp2
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02293.hp2
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02735.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG03130.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03471.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp2
HG04228.hp1
NA18906.hp2
NA18939.hp2
NA18967.hp2
NA19070.hp1
NA19085.hp1
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.1285-9630C>T
c.1285-9630C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8375604
chr1:8375632 A
A
 G
G
 109 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(106): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0032g0155
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0040g0199
a0001c0005t0009g0201
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0041g0198
a0001c0015t0001g0009
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0005c0013t0021g0023
a0005c0013t0029g0111
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 109 HG00140.hp2
HG00280.hp1
HG00544.hp1
others(106): Show 
HG00140.hp2
HG00280.hp1
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG01167.hp1
HG01167.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02293.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp2
HG02723.hp1
HG02735.hp2
HG02896.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03491.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
NA18906.hp1
NA18944.hp1
NA18944.hp2
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.1285-9658T>C
c.1285-9658T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8375632
chr1:8375653 C
C
 CTTCCTCG
others(105): Show 
CTTCCTCGCTCAGCAGCCACTGAAAATGCTTCCTCGCTCAGCAGCCACTG
AAAATGCTTCCTCGCTCAGCAGCCACTGAAAATGCTTCCTCGCTCAGCAG
CCACTGAAAATGT
 3 a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0022g0121
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0022g0121
 3 HG01167.hp1
HG02257.hp1
HG03579.hp2
HG01167.hp1
HG02257.hp1
HG03579.hp2
 intron_variant MODIFIER c.1285-9680_1285-967
others(116): Show 
c.1285-9680_1285-9679insACATTTTCAGTGGCTGCTGAGCGAGG
AAGCATTTTCAGTGGCTGCTGAGCGAGGAAGCATTTTCAGTGGCTGCTGA
GCGAGGAAGCATTTTCAGTGGCTGCTGAGCGAGGAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8375653
chr1:8375653 C
C
 CTTCCTCG
others(21): Show 
CTTCCTCGCTCAGCAGCCACTGAAAATGT
 1 a0001c0009t0041g0198
a0001c0009t0041g0198
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.1285-9680_1285-967
others(32): Show 
c.1285-9680_1285-9679insACATTTTCAGTGGCTGCTGAGCGAGG
AA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8375653
chr1:8375653 CTTCCTCA
others(21): Show 
CTTCCTCACTCAGCAGCCACTGAAAATGT
 C
C
 1 a0001c0002t0032g0155
a0001c0002t0032g0155
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.1285-9707_1285-968
others(32): Show 
c.1285-9707_1285-9680delACATTTTCAGTGGCTGCTGAGTGAGG
AA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8375653
chr1:8375660 A
A
 G
G
 102 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(99): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0040g0199
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0041g0198
a0001c0015t0001g0009
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 102 HG00140.hp2
HG00280.hp1
HG00544.hp1
others(99): Show 
HG00140.hp2
HG00280.hp1
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG01167.hp1
HG01167.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02293.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp2
HG02735.hp2
HG02896.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp2
HG03453.hp2
HG03491.hp2
HG03579.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
NA18906.hp1
NA18944.hp1
NA18944.hp2
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19043.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.1285-9686T>C
c.1285-9686T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8375660
chr1:8375681 T
T
 C
C
 9 a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0003t0004g0035
others(6): Show 
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0003t0004g0035
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0019t0014g0119
a0002c0006t0003g0139
 9 HG00639.hp2
HG01167.hp1
HG01361.hp2
others(6): Show 
HG00639.hp2
HG01167.hp1
HG01361.hp2
HG02004.hp2
HG02257.hp1
HG02523.hp1
HG02965.hp2
HG03195.hp2
HG03579.hp2
 intron_variant MODIFIER c.1285-9707A>G
c.1285-9707A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8375681
chr1:8375688 A
A
 G
G
 17 a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0046
others(14): Show 
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0046
a0001c0001t0001g0061
a0001c0001t0001g0073
a0001c0001t0003g0095
a0001c0001t0003g0122
a0001c0001t0006g0153
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0001g0003
a0001c0004t0010g0107
a0001c0004t0014g0126
a0001c0019t0014g0119
a0002c0006t0003g0139
 17 HG01361.hp2
HG02004.hp2
HG02145.hp2
others(14): Show 
HG01361.hp2
HG02004.hp2
HG02145.hp2
HG02165.hp2
HG02523.hp1
HG02698.hp2
HG02965.hp2
HG03130.hp1
HG03139.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp2
HG03579.hp1
HG04184.hp2
NA18944.hp1
NA20129.hp1
NA20300.hp1
 intron_variant MODIFIER c.1285-9714T>C
c.1285-9714T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8375688
chr1:8375716 A
A
 G
G
 3 a0001c0001t0001g0038
a0001c0004t0014g0126
a0001c0019t0014g0119
a0001c0001t0001g0038
a0001c0004t0014g0126
a0001c0019t0014g0119
 3 HG02523.hp1
HG02965.hp2
HG03195.hp2
HG02523.hp1
HG02965.hp2
HG03195.hp2
 intron_variant MODIFIER c.1285-9742T>C
c.1285-9742T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8375716
chr1:8375737 C
C
 CTTCCTCA
others(21): Show 
CTTCCTCACTCAGCAGCCACTGAAAATGT
 1 a0001c0004t0010g0107
a0001c0004t0010g0107
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.1285-9791_1285-976
others(32): Show 
c.1285-9791_1285-9764dupACATTTTCAGTGGCTGCTGAGTGAGG
AA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8375737
chr1:8375737 C
C
 CTTCCTCG
others(161): Show 
CTTCCTCGCTCAGCAGCCACTGAAAATGCTTCCTCGCTCAGCAGCCACTG
AAAATGCTTCCTCGCTCAGCAGCCACTGAAAATGCTTCCTCGCTCAGCAG
CCACTGAAAATGCTTCCTCGCTCAGCAGCCACTGAAAATGCTTCCTCGCT
CAGCAGCCACTGAAAATGT
 2 a0001c0004t0014g0126
a0001c0019t0014g0119
a0001c0004t0014g0126
a0001c0019t0014g0119
 2 HG02965.hp2
HG03195.hp2
HG02965.hp2
HG03195.hp2
 intron_variant MODIFIER c.1285-9764_1285-976
others(172): Show 
c.1285-9764_1285-9763insACATTTTCAGTGGCTGCTGAGCGAGG
AAGCATTTTCAGTGGCTGCTGAGCGAGGAAGCATTTTCAGTGGCTGCTGA
GCGAGGAAGCATTTTCAGTGGCTGCTGAGCGAGGAAGCATTTTCAGTGGC
TGCTGAGCGAGGAAGCATTTTCAGTGGCTGCTGAGCGAGGAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8375737
chr1:8375737 C
C
 T
T
 3 a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0022g0121
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0022g0121
 3 HG01167.hp1
HG02257.hp1
HG03579.hp2
HG01167.hp1
HG02257.hp1
HG03579.hp2
 intron_variant MODIFIER c.1285-9763G>A
c.1285-9763G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8375737
chr1:8375744 A
A
 G
G
 2 a0001c0004t0014g0126
a0001c0019t0014g0119
a0001c0004t0014g0126
a0001c0019t0014g0119
 2 HG02965.hp2
HG03195.hp2
HG02965.hp2
HG03195.hp2
 intron_variant MODIFIER c.1285-9770T>C
c.1285-9770T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8375744
chr1:8375772 A
A
 G
G
 2 a0001c0004t0014g0126
a0001c0019t0014g0119
a0001c0004t0014g0126
a0001c0019t0014g0119
 2 HG02965.hp2
HG03195.hp2
HG02965.hp2
HG03195.hp2
 intron_variant MODIFIER c.1285-9798T>C
c.1285-9798T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8375772
chr1:8375806 C
C
 T
T
 2 a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0012g0018
a0001c0003t0012g0022
 2 HG02622.hp2
NA19043.hp2
HG02622.hp2
NA19043.hp2
 intron_variant MODIFIER c.1285-9832G>A
c.1285-9832G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8375806
chr1:8375855 AAAC
AAAC
 A
A
 10 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0009g0200
others(7): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
 10 HG02109.hp1
HG02257.hp2
HG02622.hp1
others(7): Show 
HG02109.hp1
HG02257.hp2
HG02622.hp1
HG02818.hp1
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03516.hp1
HG03579.hp1
NA21309.hp1
 intron_variant MODIFIER c.1285-9884_1285-988
others(7): Show 
c.1285-9884_1285-9882delGTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8375855
chr1:8375891 C
C
 G
G
 1 a0001c0002t0002g0148
a0001c0002t0002g0148
 1 HG04184.hp1
HG04184.hp1
 intron_variant MODIFIER c.1285-9917G>C
c.1285-9917G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8375891
chr1:8375953 T
T
 G
G
 1 a0001c0009t0041g0198
a0001c0009t0041g0198
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.1285-9979A>C
c.1285-9979A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8375953
chr1:8375981 C
C
 T
T
 1 a0001c0001t0003g0103
a0001c0001t0003g0103
 1 NA19090.hp2
NA19090.hp2
 intron_variant MODIFIER c.1285-10007G>A
c.1285-10007G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8375981
chr1:8376071 T
T
 C
C
 4 a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
others(1): Show 
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0016t0020g0001
 4 HG02074.hp1
HG02683.hp2
HG06807.hp2
others(1): Show 
HG02074.hp1
HG02683.hp2
HG06807.hp2
NA20129.hp2
 intron_variant MODIFIER c.1285-10097A>G
c.1285-10097A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8376071
chr1:8376474 G
G
 A
A
 1 a0001c0001t0001g0074
a0001c0001t0001g0074
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.1285-10500C>T
c.1285-10500C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8376474
chr1:8376511 G
G
 A
A
 6 a0001c0001t0003g0095
a0001c0001t0003g0115
a0001c0001t0003g0117
others(3): Show 
a0001c0001t0003g0095
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0023g0113
a0001c0001t0031g0144
 6 HG00544.hp1
HG00597.hp1
HG02523.hp2
others(3): Show 
HG00544.hp1
HG00597.hp1
HG02523.hp2
NA18973.hp2
NA18993.hp2
NA20129.hp1
 intron_variant MODIFIER c.1285-10537C>T
c.1285-10537C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8376511
chr1:8376638 G
G
 C
C
 1 a0001c0007t0003g0098
a0001c0007t0003g0098
 1 NA19000.hp1
NA19000.hp1
 intron_variant MODIFIER c.1285-10664C>G
c.1285-10664C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8376638
chr1:8376709 G
G
 A
A
 1 a0001c0009t0041g0198
a0001c0009t0041g0198
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.1285-10735C>T
c.1285-10735C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8376709
chr1:8376742 C
C
 T
T
 171 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(168): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0033g0186
a0001c0002t0035g0160
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0014t0002g0191
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0001c0023t0002g0175
a0001c0024t0002g0182
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 171 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(168): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00741.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp2
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp2
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19043.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1285-10768G>A
c.1285-10768G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8376742
chr1:8376904 T
T
 C
C
 7 a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
others(4): Show 
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0006c0025t0007g0025
 7 HG02280.hp1
HG02451.hp2
HG02647.hp2
others(4): Show 
HG02280.hp1
HG02451.hp2
HG02647.hp2
HG02723.hp2
HG02809.hp2
HG02965.hp1
HG03540.hp2
 intron_variant MODIFIER c.1285-10930A>G
c.1285-10930A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8376904
chr1:8376972 T
T
 C
C
 52 a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
others(49): Show 
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0033g0186
a0001c0002t0035g0160
a0001c0014t0002g0191
a0001c0022t0008g0082
a0001c0023t0002g0175
a0001c0024t0002g0182
 52 HG00280.hp2
HG00639.hp1
HG00741.hp1
others(49): Show 
HG00280.hp2
HG00639.hp1
HG00741.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01255.hp2
HG01261.hp2
HG01358.hp1
HG01361.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01934.hp2
HG01981.hp2
HG02004.hp1
HG02027.hp2
HG02080.hp2
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02293.hp2
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02735.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03654.hp1
HG03669.hp2
HG04184.hp1
HG04199.hp1
HG04228.hp1
NA18906.hp2
NA18939.hp2
NA18946.hp2
NA18967.hp2
NA19070.hp1
NA19085.hp1
NA20752.hp1
NA20905.hp1
 intron_variant MODIFIER c.1285-10998A>G
c.1285-10998A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8376972
chr1:8377316 CT
CT
 C
C
 68 a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
others(65): Show 
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0033g0186
a0001c0002t0035g0160
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0014t0002g0191
a0001c0022t0008g0082
a0001c0023t0002g0175
a0001c0024t0002g0182
a0006c0025t0007g0025
 68 HG00280.hp2
HG00639.hp1
HG00741.hp1
others(65): Show 
HG00280.hp2
HG00639.hp1
HG00741.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01255.hp2
HG01261.hp2
HG01358.hp1
HG01361.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01934.hp2
HG01981.hp2
HG02004.hp1
HG02027.hp2
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02257.hp2
HG02280.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02622.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG02965.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp2
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03669.hp2
HG04184.hp1
HG04199.hp1
HG04228.hp1
NA18906.hp2
NA18939.hp2
NA18946.hp2
NA18967.hp2
NA19070.hp1
NA19085.hp1
NA20752.hp1
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.1285-11343delA
c.1285-11343delA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8377316
chr1:8377375 C
C
 G
G
 1 a0001c0004t0003g0109
a0001c0004t0003g0109
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.1285-11401G>C
c.1285-11401G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8377375
chr1:8377465 A
A
 T
T
 2 a0001c0004t0014g0126
a0001c0019t0014g0119
a0001c0004t0014g0126
a0001c0019t0014g0119
 2 HG02965.hp2
HG03195.hp2
HG02965.hp2
HG03195.hp2
 intron_variant MODIFIER c.1285-11491T>A
c.1285-11491T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8377465
chr1:8377835 C
C
 G
G
 1 a0001c0002t0002g0177
a0001c0002t0002g0177
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.1285-11861G>C
c.1285-11861G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8377835
chr1:8377864 T
T
 C
C
 3 a0001c0004t0027g0106
a0005c0013t0021g0023
a0005c0013t0029g0111
a0001c0004t0027g0106
a0005c0013t0021g0023
a0005c0013t0029g0111
 3 HG02886.hp2
HG03041.hp1
HG03471.hp1
HG02886.hp2
HG03041.hp1
HG03471.hp1
 intron_variant MODIFIER c.1285-11890A>G
c.1285-11890A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8377864
chr1:8377880 G
G
 A
A
 1 a0001c0003t0004g0017
a0001c0003t0004g0017
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.1285-11906C>T
c.1285-11906C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8377880
chr1:8378142 G
G
 A
A
 1 a0001c0001t0001g0074
a0001c0001t0001g0074
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.1285-12168C>T
c.1285-12168C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8378142
chr1:8378206 T
T
 C
C
 4 a0001c0004t0003g0109
a0001c0004t0040g0199
a0001c0009t0041g0198
others(1): Show 
a0001c0004t0003g0109
a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
 4 HG02145.hp1
HG02970.hp2
HG06807.hp1
others(1): Show 
HG02145.hp1
HG02970.hp2
HG06807.hp1
NA21309.hp2
 intron_variant MODIFIER c.1285-12232A>G
c.1285-12232A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8378206
chr1:8378320 C
C
 G
G
 1 a0001c0004t0010g0107
a0001c0004t0010g0107
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.1285-12346G>C
c.1285-12346G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8378320
chr1:8378625 C
C
 T
T
 8 a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
others(5): Show 
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
 8 HG02109.hp1
HG02257.hp2
HG02622.hp1
others(5): Show 
HG02109.hp1
HG02257.hp2
HG02622.hp1
HG02818.hp1
HG03130.hp2
HG03209.hp1
HG03516.hp1
NA21309.hp1
 intron_variant MODIFIER c.1285-12651G>A
c.1285-12651G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8378625
chr1:8378677 T
T
 C
C
 2 a0001c0001t0001g0048
a0001c0001t0001g0070
a0001c0001t0001g0048
a0001c0001t0001g0070
 2 NA19009.hp1
NA19085.hp2
NA19009.hp1
NA19085.hp2
 intron_variant MODIFIER c.1285-12703A>G
c.1285-12703A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8378677
chr1:8378792 T
T
 C
C
 4 a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
others(1): Show 
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0022g0121
 4 HG01167.hp1
HG02257.hp1
HG03453.hp2
others(1): Show 
HG01167.hp1
HG02257.hp1
HG03453.hp2
HG03579.hp2
 intron_variant MODIFIER c.1285-12818A>G
c.1285-12818A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8378792
chr1:8379130 G
G
 A
A
 1 a0001c0001t0001g0050
a0001c0001t0001g0050
 1 NA19005.hp1
NA19005.hp1
 intron_variant MODIFIER c.1285-13156C>T
c.1285-13156C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8379130
chr1:8379529 T
T
 C
C
 1 a0001c0002t0002g0177
a0001c0002t0002g0177
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.1285-13555A>G
c.1285-13555A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8379529
chr1:8379565 C
C
 A
A
 173 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(170): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0157
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0002t0033g0186
a0001c0002t0035g0160
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0014t0002g0191
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0001c0023t0002g0175
a0001c0024t0002g0182
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 173 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(170): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00741.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp2
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp2
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19043.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1285-13591G>T
c.1285-13591G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8379565
chr1:8379997 C
C
 A
A
 7 a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
others(4): Show 
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0006c0025t0007g0025
 7 HG02280.hp1
HG02451.hp2
HG02647.hp2
others(4): Show 
HG02280.hp1
HG02451.hp2
HG02647.hp2
HG02723.hp2
HG02809.hp2
HG02965.hp1
HG03540.hp2
 intron_variant MODIFIER c.1285-14023G>T
c.1285-14023G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8379997
chr1:8380053 C
C
 T
T
 2 a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0001g0049
a0001c0004t0003g0092
 2 HG00609.hp2
HG01433.hp1
HG00609.hp2
HG01433.hp1
 intron_variant MODIFIER c.1285-14079G>A
c.1285-14079G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8380053
chr1:8380072 G
G
 A
A
 42 a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
others(39): Show 
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0033g0186
a0001c0002t0035g0160
a0001c0014t0002g0191
a0001c0022t0008g0082
a0001c0023t0002g0175
a0001c0024t0002g0182
 42 HG00280.hp2
HG00639.hp1
HG00741.hp1
others(39): Show 
HG00280.hp2
HG00639.hp1
HG00741.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01255.hp2
HG01261.hp2
HG01358.hp1
HG01361.hp1
HG01515.hp2
HG01517.hp1
HG01934.hp2
HG01981.hp2
HG02004.hp1
HG02027.hp2
HG02080.hp2
HG02129.hp1
HG02132.hp2
HG02293.hp2
HG02451.hp1
HG02486.hp1
HG02559.hp2
HG02602.hp1
HG02735.hp1
HG02896.hp2
HG03209.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03654.hp1
HG03669.hp2
HG04184.hp1
HG04199.hp1
HG04228.hp1
NA18939.hp2
NA18946.hp2
NA18967.hp2
NA19070.hp1
NA19085.hp1
NA20752.hp1
NA20905.hp1
 intron_variant MODIFIER c.1285-14098C>T
c.1285-14098C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8380072
chr1:8380340 CT
CT
 C
C
 160 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(157): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0043
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0157
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0002t0033g0186
a0001c0002t0035g0160
a0001c0003t0012g0022
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0014g0126
a0001c0004t0025g0080
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0014t0002g0191
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0001c0024t0002g0182
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 160 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(157): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00741.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp2
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp2
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19043.hp1
NA19043.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1285-14367delA
c.1285-14367delA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8380340
chr1:8380583 G
G
 A
A
 40 a0001c0001t0001g0013
a0001c0001t0001g0033
a0001c0001t0001g0037
others(37): Show 
a0001c0001t0001g0013
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0141
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0008c0017t0003g0101
a0010c0027t0003g0086
 40 HG00544.hp1
HG00597.hp1
HG00609.hp1
others(37): Show 
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG01192.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG02132.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02602.hp2
HG02683.hp1
HG02735.hp2
HG03669.hp1
HG03688.hp2
HG03831.hp1
HG04115.hp1
HG04228.hp2
NA18906.hp1
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.1285-14609C>T
c.1285-14609C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8380583
chr1:8380626 C
C
 T
T
 1 a0001c0002t0002g0183
a0001c0002t0002g0183
 1 HG01934.hp2
HG01934.hp2
 intron_variant MODIFIER c.1285-14652G>A
c.1285-14652G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8380626
chr1:8380640 C
C
 G
G
 1 a0001c0002t0005g0110
a0001c0002t0005g0110
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.1285-14666G>C
c.1285-14666G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8380640
chr1:8380852 G
G
 A
A
 2 a0001c0004t0014g0126
a0001c0019t0014g0119
a0001c0004t0014g0126
a0001c0019t0014g0119
 2 HG02965.hp2
HG03195.hp2
HG02965.hp2
HG03195.hp2
 intron_variant MODIFIER c.1285-14878C>T
c.1285-14878C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8380852
chr1:8380885 C
C
 T
T
 1 a0001c0002t0002g0169
a0001c0002t0002g0169
 1 HG02132.hp2
HG02132.hp2
 intron_variant MODIFIER c.1285-14911G>A
c.1285-14911G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8380885
chr1:8381099 T
T
 C
C
 1 a0001c0001t0023g0113
a0001c0001t0023g0113
 1 HG00544.hp1
HG00544.hp1
 intron_variant MODIFIER c.1285-15125A>G
c.1285-15125A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8381099
chr1:8381723 C
C
 T
T
 1 a0001c0002t0006g0145
a0001c0002t0006g0145
 1 HG03491.hp1
HG03491.hp1
 intron_variant MODIFIER c.1285-15749G>A
c.1285-15749G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8381723
chr1:8381725 C
C
 T
T
 4 a0001c0004t0003g0109
a0001c0004t0040g0199
a0001c0009t0041g0198
others(1): Show 
a0001c0004t0003g0109
a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
 4 HG02145.hp1
HG02970.hp2
HG06807.hp1
others(1): Show 
HG02145.hp1
HG02970.hp2
HG06807.hp1
NA21309.hp2
 intron_variant MODIFIER c.1285-15751G>A
c.1285-15751G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8381725
chr1:8381900 T
T
 C
C
 4 a0001c0004t0003g0109
a0001c0004t0040g0199
a0001c0009t0041g0198
others(1): Show 
a0001c0004t0003g0109
a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
 4 HG02145.hp1
HG02970.hp2
HG06807.hp1
others(1): Show 
HG02145.hp1
HG02970.hp2
HG06807.hp1
NA21309.hp2
 intron_variant MODIFIER c.1285-15926A>G
c.1285-15926A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8381900
chr1:8381933 T
T
 C
C
 1 a0001c0001t0003g0095
a0001c0001t0003g0095
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.1285-15959A>G
c.1285-15959A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8381933
chr1:8382135 A
A
 G
G
 1 a0001c0004t0027g0106
a0001c0004t0027g0106
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.1285-16161T>C
c.1285-16161T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8382135
chr1:8382279 C
C
 A
A
 1 a0001c0001t0001g0059
a0001c0001t0001g0059
 1 HG01261.hp1
HG01261.hp1
 intron_variant MODIFIER c.1285-16305G>T
c.1285-16305G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8382279
chr1:8382530 A
A
 G
G
 1 a0002c0006t0003g0091
a0002c0006t0003g0091
 1 NA19002.hp2
NA19002.hp2
 intron_variant MODIFIER c.1285-16556T>C
c.1285-16556T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8382530
chr1:8382667 CCT
CCT
 C
C
 4 a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
others(1): Show 
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0016t0020g0001
 4 HG02074.hp1
HG02683.hp2
HG06807.hp2
others(1): Show 
HG02074.hp1
HG02683.hp2
HG06807.hp2
NA20129.hp2
 intron_variant MODIFIER c.1285-16695_1285-16
others(8): Show 
c.1285-16695_1285-16694delAG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8382667
chr1:8382741 G
G
 A
A
 2 a0001c0001t0001g0060
a0001c0001t0001g0063
a0001c0001t0001g0060
a0001c0001t0001g0063
 2 HG00140.hp2
HG02486.hp2
HG00140.hp2
HG02486.hp2
 intron_variant MODIFIER c.1285-16767C>T
c.1285-16767C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8382741
chr1:8382985 T
T
 C
C
 1 a0001c0001t0003g0122
a0001c0001t0003g0122
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.1285-17011A>G
c.1285-17011A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8382985
chr1:8383012 TA
TA
 T
T
 160 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(157): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0038g0195
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0033g0186
a0001c0002t0035g0160
a0001c0003t0004g0011
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0047
a0001c0009t0041g0198
a0001c0014t0002g0191
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0001c0023t0002g0175
a0001c0024t0002g0182
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0005c0013t0021g0023
a0005c0013t0029g0111
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 160 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(157): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00741.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp2
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp1
HG02698.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18964.hp1
NA18967.hp1
NA18967.hp2
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19043.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1285-17039delT
c.1285-17039delT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8383012
chr1:8383087 C
C
 T
T
 4 a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
others(1): Show 
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0022g0121
 4 HG01167.hp1
HG02257.hp1
HG03453.hp2
others(1): Show 
HG01167.hp1
HG02257.hp1
HG03453.hp2
HG03579.hp2
 intron_variant MODIFIER c.1285-17113G>A
c.1285-17113G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8383087
chr1:8383340 T
T
 G
G
 2 a0001c0004t0014g0126
a0001c0019t0014g0119
a0001c0004t0014g0126
a0001c0019t0014g0119
 2 HG02965.hp2
HG03195.hp2
HG02965.hp2
HG03195.hp2
 intron_variant MODIFIER c.1285-17366A>C
c.1285-17366A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8383340
chr1:8383643 G
G
 A
A
 4 a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
others(1): Show 
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0022g0121
 4 HG01167.hp1
HG02257.hp1
HG03453.hp2
others(1): Show 
HG01167.hp1
HG02257.hp1
HG03453.hp2
HG03579.hp2
 intron_variant MODIFIER c.1285-17669C>T
c.1285-17669C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8383643
chr1:8383680 G
G
 A
A
 2 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0002t0002g0157
a0001c0002t0032g0155
 2 HG03130.hp1
HG03579.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.1285-17706C>T
c.1285-17706C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8383680
chr1:8383715 C
C
 A
A
 1 a0001c0004t0027g0106
a0001c0004t0027g0106
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.1285-17741G>T
c.1285-17741G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8383715
chr1:8383751 T
T
 C
C
 2 a0001c0004t0014g0126
a0001c0019t0014g0119
a0001c0004t0014g0126
a0001c0019t0014g0119
 2 HG02965.hp2
HG03195.hp2
HG02965.hp2
HG03195.hp2
 intron_variant MODIFIER c.1285-17777A>G
c.1285-17777A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8383751
chr1:8383865 T
T
 TAAATA
TAAATA
 39 a0001c0001t0001g0013
a0001c0001t0001g0033
a0001c0001t0001g0037
others(36): Show 
a0001c0001t0001g0013
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0003g0087
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0141
a0001c0001t0006g0181
a0001c0001t0023g0113
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0015g0147
a0001c0004t0001g0003
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0025g0080
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0008c0017t0003g0101
a0010c0027t0003g0086
 39 HG00544.hp1
HG00597.hp1
HG00609.hp1
others(36): Show 
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp2
HG01192.hp2
HG01433.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG02132.hp1
HG02145.hp2
HG02165.hp1
HG02280.hp2
HG02523.hp2
HG02602.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04184.hp2
HG04228.hp2
NA18906.hp1
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18985.hp1
NA18993.hp2
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1285-17896_1285-17
others(11): Show 
c.1285-17896_1285-17892dupTATTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8383865
chr1:8383865 T
T
 TAAATAAA
others(3): Show 
TAAATAAAATA
 12 a0001c0001t0003g0088
a0001c0001t0016g0054
a0001c0001t0030g0143
others(9): Show 
a0001c0001t0003g0088
a0001c0001t0016g0054
a0001c0001t0030g0143
a0001c0003t0004g0014
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0022g0121
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
 12 HG01167.hp1
HG01358.hp2
HG01496.hp1
others(9): Show 
HG01167.hp1
HG01358.hp2
HG01496.hp1
HG02155.hp2
HG02257.hp1
HG02293.hp1
HG03453.hp2
HG03579.hp2
HG03831.hp1
NA18983.hp1
NA19000.hp1
NA20752.hp2
 intron_variant MODIFIER c.1285-17901_1285-17
others(16): Show 
c.1285-17901_1285-17892dupTATTTTATTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8383865
chr1:8383865 T
T
 TAAATAAA
others(8): Show 
TAAATAAAATAAAATA
 3 a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
 3 HG02145.hp1
HG02970.hp2
HG06807.hp1
HG02145.hp1
HG02970.hp2
HG06807.hp1
 intron_variant MODIFIER c.1285-17906_1285-17
others(21): Show 
c.1285-17906_1285-17892dupTATTTTATTTTATTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8383865
chr1:8383865 T
T
 TAAATAAA
others(13): Show 
TAAATAAAATAAAATAAAATA
 2 a0001c0002t0002g0157
a0001c0004t0003g0109
a0001c0002t0002g0157
a0001c0004t0003g0109
 2 HG03130.hp1
NA21309.hp2
HG03130.hp1
NA21309.hp2
 intron_variant MODIFIER c.1285-17911_1285-17
others(26): Show 
c.1285-17911_1285-17892dupTATTTTATTTTATTTTATTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8383865
chr1:8383865 T
T
 TAAATAAA
others(18): Show 
TAAATAAAATAAAATAAAATAAAATA
 1 a0001c0002t0032g0155
a0001c0002t0032g0155
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.1285-17916_1285-17
others(31): Show 
c.1285-17916_1285-17892dupTATTTTATTTTATTTTATTTTATT
T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8383865
chr1:8383865 TAAATA
TAAATA
 T
T
 70 a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
others(67): Show 
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0033g0186
a0001c0002t0035g0160
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0014t0002g0191
a0001c0022t0008g0082
a0001c0023t0002g0175
a0001c0024t0002g0182
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
 70 HG00280.hp2
HG00639.hp1
HG00741.hp1
others(67): Show 
HG00280.hp2
HG00639.hp1
HG00741.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01255.hp2
HG01261.hp2
HG01358.hp1
HG01361.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01934.hp2
HG01981.hp2
HG02004.hp1
HG02027.hp2
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02257.hp2
HG02280.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02622.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG02965.hp1
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03669.hp2
HG04184.hp1
HG04199.hp1
HG04228.hp1
NA18906.hp2
NA18939.hp2
NA18946.hp2
NA18967.hp2
NA19070.hp1
NA19085.hp1
NA20752.hp1
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.1285-17896_1285-17
others(11): Show 
c.1285-17896_1285-17892delTATTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8383865
chr1:8384034 G
G
 A
A
 1 a0001c0001t0006g0181
a0001c0001t0006g0181
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.1285-18060C>T
c.1285-18060C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8384034
chr1:8384051 G
G
 C
C
 4 a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
others(1): Show 
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0022g0121
 4 HG01167.hp1
HG02257.hp1
HG03453.hp2
others(1): Show 
HG01167.hp1
HG02257.hp1
HG03453.hp2
HG03579.hp2
 intron_variant MODIFIER c.1285-18077C>G
c.1285-18077C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8384051
chr1:8384143 G
G
 A
A
 1 a0001c0003t0004g0078
a0001c0003t0004g0078
 1 NA19009.hp2
NA19009.hp2
 intron_variant MODIFIER c.1285-18169C>T
c.1285-18169C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8384143
chr1:8384170 T
T
 C
C
 68 a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
others(65): Show 
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0033g0186
a0001c0002t0035g0160
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0014t0002g0191
a0001c0022t0008g0082
a0001c0023t0002g0175
a0001c0024t0002g0182
a0006c0025t0007g0025
 68 HG00280.hp2
HG00639.hp1
HG00741.hp1
others(65): Show 
HG00280.hp2
HG00639.hp1
HG00741.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01255.hp2
HG01261.hp2
HG01358.hp1
HG01361.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01934.hp2
HG01981.hp2
HG02004.hp1
HG02027.hp2
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02257.hp2
HG02280.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02622.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG02965.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp2
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03669.hp2
HG04184.hp1
HG04199.hp1
HG04228.hp1
NA18906.hp2
NA18939.hp2
NA18946.hp2
NA18967.hp2
NA19070.hp1
NA19085.hp1
NA20752.hp1
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.1285-18196A>G
c.1285-18196A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8384170
chr1:8384407 G
G
 A
A
 2 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0002t0002g0157
a0001c0002t0032g0155
 2 HG03130.hp1
HG03579.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.1285-18433C>T
c.1285-18433C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8384407
chr1:8384465 T
T
 C
C
 4 a0001c0004t0003g0109
a0001c0004t0040g0199
a0001c0009t0041g0198
others(1): Show 
a0001c0004t0003g0109
a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
 4 HG02145.hp1
HG02970.hp2
HG06807.hp1
others(1): Show 
HG02145.hp1
HG02970.hp2
HG06807.hp1
NA21309.hp2
 intron_variant MODIFIER c.1285-18491A>G
c.1285-18491A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8384465
chr1:8384773 C
C
 T
T
 1 a0001c0003t0004g0012
a0001c0003t0004g0012
 1 HG00544.hp2
HG00544.hp2
 intron_variant MODIFIER c.1285-18799G>A
c.1285-18799G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8384773
chr1:8385125 A
A
 C
C
 1 a0001c0004t0022g0121
a0001c0004t0022g0121
 1 HG02257.hp1
HG02257.hp1
 intron_variant MODIFIER c.1285-19151T>G
c.1285-19151T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8385125
chr1:8385189 T
T
 C
C
 1 a0001c0022t0008g0082
a0001c0022t0008g0082
 1 HG00280.hp2
HG00280.hp2
 intron_variant MODIFIER c.1285-19215A>G
c.1285-19215A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8385189
chr1:8385300 C
C
 T
T
 164 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(161): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0033g0186
a0001c0002t0035g0160
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0014t0002g0191
a0001c0018t0001g0005
a0001c0022t0008g0082
a0001c0023t0002g0175
a0001c0024t0002g0182
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 164 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(161): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00741.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp2
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp2
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19043.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.1285-19326G>A
c.1285-19326G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8385300
chr1:8385335 C
C
 T
T
 2 a0005c0013t0021g0023
a0005c0013t0029g0111
a0005c0013t0021g0023
a0005c0013t0029g0111
 2 HG03041.hp1
HG03471.hp1
HG03041.hp1
HG03471.hp1
 intron_variant MODIFIER c.1285-19361G>A
c.1285-19361G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8385335
chr1:8385624 C
C
 T
T
 4 a0001c0004t0003g0109
a0001c0004t0040g0199
a0001c0009t0041g0198
others(1): Show 
a0001c0004t0003g0109
a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
 4 HG02145.hp1
HG02970.hp2
HG06807.hp1
others(1): Show 
HG02145.hp1
HG02970.hp2
HG06807.hp1
NA21309.hp2
 intron_variant MODIFIER c.1285-19650G>A
c.1285-19650G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8385624
chr1:8385836 G
G
 A
A
 1 a0001c0002t0006g0145
a0001c0002t0006g0145
 1 HG03491.hp1
HG03491.hp1
 intron_variant MODIFIER c.1285-19862C>T
c.1285-19862C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8385836
chr1:8385837 C
C
 T
T
 1 a0001c0009t0041g0198
a0001c0009t0041g0198
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.1285-19863G>A
c.1285-19863G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8385837
chr1:8385886 G
G
 A
A
 68 a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
others(65): Show 
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0033g0186
a0001c0002t0035g0160
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0014t0002g0191
a0001c0022t0008g0082
a0001c0023t0002g0175
a0001c0024t0002g0182
a0006c0025t0007g0025
 68 HG00280.hp2
HG00639.hp1
HG00741.hp1
others(65): Show 
HG00280.hp2
HG00639.hp1
HG00741.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01255.hp2
HG01261.hp2
HG01358.hp1
HG01361.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01934.hp2
HG01981.hp2
HG02004.hp1
HG02027.hp2
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02257.hp2
HG02280.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02622.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG02965.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp2
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03669.hp2
HG04184.hp1
HG04199.hp1
HG04228.hp1
NA18906.hp2
NA18939.hp2
NA18946.hp2
NA18967.hp2
NA19070.hp1
NA19085.hp1
NA20752.hp1
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.1285-19912C>T
c.1285-19912C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8385886
chr1:8385968 T
T
 TA
TA
 27 a0001c0001t0001g0039
a0001c0001t0001g0055
a0001c0001t0001g0056
others(24): Show 
a0001c0001t0001g0039
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0063
a0001c0001t0001g0073
a0001c0001t0001g0076
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0021
a0001c0004t0001g0049
a0001c0007t0004g0047
a0002c0006t0003g0139
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
 27 HG00140.hp2
HG00280.hp1
HG00544.hp2
others(24): Show 
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00609.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01361.hp2
HG02004.hp2
HG02486.hp2
HG02683.hp1
HG02698.hp2
HG02970.hp1
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03491.hp2
HG04115.hp1
HG04199.hp2
NA18944.hp1
NA18946.hp1
NA18985.hp2
NA19070.hp2
NA19090.hp1
 intron_variant MODIFIER c.1285-19995dupT
c.1285-19995dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8385968
chr1:8385968 T
T
 TAAA
TAAA
 5 a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0069
others(2): Show 
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0069
a0001c0002t0002g0192
a0001c0018t0001g0005
 5 HG01175.hp1
HG01496.hp2
HG02074.hp2
others(2): Show 
HG01175.hp1
HG01496.hp2
HG02074.hp2
HG03688.hp1
NA19000.hp2
 intron_variant MODIFIER c.1285-19997_1285-19
others(9): Show 
c.1285-19997_1285-19995dupTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8385968
chr1:8385968 TA
TA
 T
T
 6 a0001c0002t0018g0002
a0001c0007t0003g0099
a0001c0014t0002g0191
others(3): Show 
a0001c0002t0018g0002
a0001c0007t0003g0099
a0001c0014t0002g0191
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
 6 HG01361.hp1
HG02165.hp1
HG02559.hp1
others(3): Show 
HG01361.hp1
HG02165.hp1
HG02559.hp1
NA19002.hp2
NA19074.hp2
NA20752.hp2
 intron_variant MODIFIER c.1285-19995delT
c.1285-19995delT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8385968
chr1:8385968 TAAAAAAA
others(1): Show 
TAAAAAAAA
 T
T
 7 a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
others(4): Show 
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0006c0025t0007g0025
 7 HG02280.hp1
HG02451.hp2
HG02647.hp2
others(4): Show 
HG02280.hp1
HG02451.hp2
HG02647.hp2
HG02723.hp2
HG02809.hp2
HG02965.hp1
HG03540.hp2
 intron_variant MODIFIER c.1285-20002_1285-19
others(14): Show 
c.1285-20002_1285-19995delTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8385968
chr1:8385968 TAAAAAAA
others(3): Show 
TAAAAAAAAAA
 T
T
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.1285-20004_1285-19
others(16): Show 
c.1285-20004_1285-19995delTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8385968
chr1:8385968 TAAAAAAA
others(6): Show 
TAAAAAAAAAAAAA
 T
T
 1 a0001c0002t0002g0180
a0001c0002t0002g0180
 1 HG02080.hp2
HG02080.hp2
 intron_variant MODIFIER c.1285-20007_1285-19
others(19): Show 
c.1285-20007_1285-19995delTTTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8385968
chr1:8385968 TAAAAAAA
others(8): Show 
TAAAAAAAAAAAAAAA
 T
T
 1 a0001c0024t0002g0182
a0001c0024t0002g0182
 1 HG02896.hp2
HG02896.hp2
 intron_variant MODIFIER c.1285-20009_1285-19
others(21): Show 
c.1285-20009_1285-19995delTTTTTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8385968
chr1:8385987 A
A
 AT
AT
 2 a0001c0004t0005g0123
a0001c0004t0014g0126
a0001c0004t0005g0123
a0001c0004t0014g0126
 2 HG02602.hp2
HG02965.hp2
HG02602.hp2
HG02965.hp2
 intron_variant MODIFIER c.1285-20014_1285-20
others(7): Show 
c.1285-20014_1285-20013insA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8385987
chr1:8385989 A
A
 ATAT
ATAT
 3 a0001c0009t0004g0020
a0004c0012t0008g0137
a0004c0012t0008g0138
a0001c0009t0004g0020
a0004c0012t0008g0137
a0004c0012t0008g0138
 3 HG01168.hp2
HG02976.hp2
HG03195.hp1
HG01168.hp2
HG02976.hp2
HG03195.hp1
 intron_variant MODIFIER c.1285-20016_1285-20
others(9): Show 
c.1285-20016_1285-20015insATA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8385989
chr1:8385989 A
A
 T
T
 3 a0001c0001t0003g0104
a0001c0004t0005g0123
a0001c0004t0014g0126
a0001c0001t0003g0104
a0001c0004t0005g0123
a0001c0004t0014g0126
 3 HG00609.hp1
HG02602.hp2
HG02965.hp2
HG00609.hp1
HG02602.hp2
HG02965.hp2
 intron_variant MODIFIER c.1285-20015T>A
c.1285-20015T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8385989
chr1:8385990 AAAAAT
AAAAAT
 A
A
 5 a0001c0002t0002g0179
a0001c0004t0040g0199
a0001c0005t0009g0200
others(2): Show 
a0001c0002t0002g0179
a0001c0004t0040g0199
a0001c0005t0009g0200
a0005c0013t0021g0023
a0005c0013t0029g0111
 5 HG02970.hp2
HG03041.hp1
HG03471.hp1
others(2): Show 
HG02970.hp2
HG03041.hp1
HG03471.hp1
HG03516.hp1
HG03516.hp2
 intron_variant MODIFIER c.1285-20021_1285-20
others(11): Show 
c.1285-20021_1285-20017delATTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8385990
chr1:8385991 A
A
 AT
AT
 6 a0001c0001t0003g0087
a0001c0001t0003g0103
a0001c0001t0016g0054
others(3): Show 
a0001c0001t0003g0087
a0001c0001t0003g0103
a0001c0001t0016g0054
a0001c0001t0038g0195
a0001c0004t0005g0079
a0001c0004t0025g0080
 6 HG01515.hp1
HG02293.hp1
HG02735.hp2
others(3): Show 
HG01515.hp1
HG02293.hp1
HG02735.hp2
HG03669.hp1
HG04228.hp2
NA19090.hp2
 intron_variant MODIFIER c.1285-20018_1285-20
others(7): Show 
c.1285-20018_1285-20017insA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8385991
chr1:8385991 A
A
 ATAT
ATAT
 2 a0001c0001t0003g0102
a0002c0006t0003g0097
a0001c0001t0003g0102
a0002c0006t0003g0097
 2 HG03688.hp2
NA18944.hp2
HG03688.hp2
NA18944.hp2
 intron_variant MODIFIER c.1285-20018_1285-20
others(9): Show 
c.1285-20018_1285-20017insATA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8385991
chr1:8385991 A
A
 ATATAT
ATATAT
 4 a0001c0001t0030g0143
a0001c0004t0001g0003
a0001c0009t0004g0016
others(1): Show 
a0001c0001t0030g0143
a0001c0004t0001g0003
a0001c0009t0004g0016
a0002c0006t0003g0089
 4 HG01255.hp1
HG02132.hp1
HG02155.hp2
others(1): Show 
HG01255.hp1
HG02132.hp1
HG02155.hp2
HG04184.hp2
 intron_variant MODIFIER c.1285-20018_1285-20
others(11): Show 
c.1285-20018_1285-20017insATATA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8385991
chr1:8385991 A
A
 T
T
 10 a0001c0001t0003g0100
a0001c0001t0003g0104
a0001c0001t0037g0196
others(7): Show 
a0001c0001t0003g0100
a0001c0001t0003g0104
a0001c0001t0037g0196
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0014g0126
a0001c0009t0004g0020
a0002c0006t0024g0081
a0004c0012t0008g0137
a0004c0012t0008g0138
 10 HG00609.hp1
HG01168.hp2
HG01517.hp2
others(7): Show 
HG00609.hp1
HG01168.hp2
HG01517.hp2
HG02602.hp2
HG02965.hp2
HG02976.hp2
HG03195.hp1
NA19005.hp2
NA19007.hp2
NA19043.hp1
 intron_variant MODIFIER c.1285-20017T>A
c.1285-20017T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8385991
chr1:8385993 A
A
 AAAAAAAA
others(9): Show 
AAAAAAAAAATATATAT
 1 a0001c0001t0031g0144
a0001c0001t0031g0144
 1 NA18993.hp2
NA18993.hp2
 intron_variant MODIFIER c.1285-20020_1285-20
others(22): Show 
c.1285-20020_1285-20019insATATATATTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8385993
chr1:8385993 A
A
 AAAAAAAA
others(7): Show 
AAAAAAAATATATAT
 1 a0001c0001t0003g0117
a0001c0001t0003g0117
 1 NA18973.hp2
NA18973.hp2
 intron_variant MODIFIER c.1285-20020_1285-20
others(20): Show 
c.1285-20020_1285-20019insATATATATTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8385993
chr1:8385993 A
A
 AAAAAATA
others(5): Show 
AAAAAATATATAT
 1 a0001c0001t0003g0118
a0001c0001t0003g0118
 1 HG02523.hp2
HG02523.hp2
 intron_variant MODIFIER c.1285-20020_1285-20
others(18): Show 
c.1285-20020_1285-20019insATATATATTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8385993
chr1:8385993 A
A
 AAAAATAT
others(4): Show 
AAAAATATATAT
 1 a0001c0001t0003g0115
a0001c0001t0003g0115
 1 HG00597.hp1
HG00597.hp1
 intron_variant MODIFIER c.1285-20020_1285-20
others(17): Show 
c.1285-20020_1285-20019insATATATATTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8385993
chr1:8385993 A
A
 AAATATAT
others(8): Show 
AAATATATATATATAT
 1 a0001c0001t0023g0113
a0001c0001t0023g0113
 1 HG00544.hp1
HG00544.hp1
 intron_variant MODIFIER c.1285-20020_1285-20
others(21): Show 
c.1285-20020_1285-20019insATATATATATATATT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8385993
chr1:8385993 A
A
 AT
AT
 5 a0001c0001t0001g0013
a0001c0001t0001g0040
a0001c0001t0001g0067
others(2): Show 
a0001c0001t0001g0013
a0001c0001t0001g0040
a0001c0001t0001g0067
a0001c0003t0017g0032
a0008c0017t0003g0101
 5 HG01192.hp2
HG02155.hp1
HG03831.hp2
others(2): Show 
HG01192.hp2
HG02155.hp1
HG03831.hp2
HG04115.hp2
NA20905.hp2
 intron_variant MODIFIER c.1285-20020_1285-20
others(7): Show 
c.1285-20020_1285-20019insA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8385993
chr1:8385993 A
A
 ATATATAT
others(8): Show 
ATATATATATATATAT
 1 a0001c0002t0032g0155
a0001c0002t0032g0155
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.1285-20020_1285-20
others(21): Show 
c.1285-20020_1285-20019insATATATATATATATA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8385993
chr1:8385993 A
A
 T
T
 38 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(35): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0016g0054
a0001c0001t0030g0143
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0152
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0015g0147
a0001c0004t0001g0003
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0014g0126
a0001c0004t0025g0080
a0001c0005t0009g0204
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0015t0001g0009
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0004c0012t0008g0137
a0004c0012t0008g0138
a0010c0027t0003g0086
 38 HG00609.hp1
HG00741.hp2
HG01168.hp2
others(35): Show 
HG00609.hp1
HG00741.hp2
HG01168.hp2
HG01255.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02280.hp2
HG02293.hp1
HG02602.hp2
HG02735.hp2
HG02818.hp1
HG02896.hp1
HG02965.hp2
HG02976.hp2
HG03195.hp1
HG03540.hp1
HG03669.hp1
HG03688.hp2
HG04184.hp2
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18983.hp1
NA18985.hp1
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20752.hp2
 intron_variant MODIFIER c.1285-20019T>A
c.1285-20019T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8385993
chr1:8385994 AT
AT
 A
A
 25 a0001c0001t0001g0015
a0001c0001t0001g0046
a0001c0001t0001g0048
others(22): Show 
a0001c0001t0001g0015
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0002t0002g0149
a0001c0002t0002g0163
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0190
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0002t0033g0186
a0001c0003t0011g0108
a0001c0016t0020g0001
 25 HG01255.hp2
HG01884.hp1
HG01934.hp2
others(22): Show 
HG01255.hp2
HG01884.hp1
HG01934.hp2
HG02165.hp2
HG02258.hp1
HG02451.hp1
HG02486.hp1
HG02602.hp1
HG02735.hp1
HG02809.hp1
HG02886.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG04228.hp1
HG06807.hp2
NA18906.hp2
NA18946.hp2
NA18967.hp1
NA18967.hp2
NA19005.hp1
NA19007.hp1
NA19070.hp1
NA19085.hp2
NA20129.hp2
 intron_variant MODIFIER c.1285-20021delA
c.1285-20021delA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8385994
chr1:8385994 ATAT
ATAT
 A
A
 4 a0001c0001t0001g0070
a0001c0002t0002g0168
a0001c0003t0011g0112
others(1): Show 
a0001c0001t0001g0070
a0001c0002t0002g0168
a0001c0003t0011g0112
a0001c0003t0012g0022
 4 HG00741.hp1
HG02683.hp2
NA19009.hp1
others(1): Show 
HG00741.hp1
HG02683.hp2
NA19009.hp1
NA19043.hp2
 intron_variant MODIFIER c.1285-20023_1285-20
others(9): Show 
c.1285-20023_1285-20021delATA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8385994
chr1:8385994 ATATAT
ATATAT
 A
A
 2 a0001c0003t0011g0096
a0001c0004t0022g0121
a0001c0003t0011g0096
a0001c0004t0022g0121
 2 HG02074.hp1
HG02257.hp1
HG02074.hp1
HG02257.hp1
 intron_variant MODIFIER c.1285-20025_1285-20
others(11): Show 
c.1285-20025_1285-20021delATATA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8385994
chr1:8385995 T
T
 A
A
 51 a0001c0001t0001g0039
a0001c0001t0001g0051
a0001c0001t0001g0052
others(48): Show 
a0001c0001t0001g0039
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0002g0148
a0001c0002t0002g0150
a0001c0002t0002g0157
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0192
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0013g0053
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0041
a0001c0003t0004g0068
a0001c0003t0012g0018
a0001c0004t0003g0092
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0007t0004g0047
a0001c0023t0002g0175
a0002c0006t0003g0139
a0009c0021t0003g0135
 51 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(48): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00597.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp1
HG01515.hp2
HG01517.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02080.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02258.hp2
HG02486.hp2
HG02622.hp2
HG02723.hp1
HG02818.hp2
HG02886.hp2
HG02976.hp1
HG03130.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03654.hp1
HG04115.hp1
HG04184.hp1
HG04199.hp1
NA18939.hp1
NA18939.hp2
NA18944.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA19070.hp2
NA19085.hp1
NA19090.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
 intron_variant MODIFIER c.1285-20021A>T
c.1285-20021A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8385995
chr1:8385997 T
T
 A
A
 38 a0001c0001t0001g0015
a0001c0001t0001g0045
a0001c0001t0001g0046
others(35): Show 
a0001c0001t0001g0015
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0061
a0001c0001t0001g0066
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0006g0154
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0158
a0001c0002t0002g0161
a0001c0002t0002g0163
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0183
a0001c0002t0002g0192
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0003t0004g0017
a0001c0003t0012g0018
a0001c0004t0003g0092
a0001c0004t0010g0107
a0001c0023t0002g0175
 38 HG00140.hp1
HG01167.hp2
HG01169.hp2
others(35): Show 
HG00140.hp1
HG01167.hp2
HG01169.hp2
HG01175.hp1
HG01433.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01934.hp2
HG02004.hp1
HG02027.hp1
HG02027.hp2
HG02165.hp2
HG02258.hp1
HG02451.hp1
HG02602.hp1
HG02622.hp2
HG02723.hp1
HG02735.hp1
HG02886.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03654.hp1
HG04184.hp1
NA18906.hp2
NA18939.hp2
NA18967.hp1
NA18967.hp2
NA18983.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19070.hp1
NA19085.hp2
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.1285-20023A>T
c.1285-20023A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8385997
chr1:8385999 T
T
 A
A
 10 a0001c0002t0002g0148
a0001c0002t0002g0161
a0001c0002t0002g0168
others(7): Show 
a0001c0002t0002g0148
a0001c0002t0002g0161
a0001c0002t0002g0168
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0183
a0001c0002t0005g0114
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0004t0003g0092
 10 HG00741.hp1
HG01433.hp1
HG01934.hp2
others(7): Show 
HG00741.hp1
HG01433.hp1
HG01934.hp2
HG02004.hp1
HG02027.hp2
HG02622.hp2
HG02683.hp2
HG03209.hp2
HG04184.hp1
NA18967.hp2
 intron_variant MODIFIER c.1285-20025A>T
c.1285-20025A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8385999
chr1:8386001 T
T
 A
A
 3 a0001c0002t0002g0177
a0001c0003t0011g0096
a0001c0004t0022g0121
a0001c0002t0002g0177
a0001c0003t0011g0096
a0001c0004t0022g0121
 3 HG02074.hp1
HG02257.hp1
HG03209.hp2
HG02074.hp1
HG02257.hp1
HG03209.hp2
 intron_variant MODIFIER c.1285-20027A>T
c.1285-20027A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8386001
chr1:8386003 T
T
 A
A
 1 a0001c0003t0011g0096
a0001c0003t0011g0096
 1 HG02074.hp1
HG02074.hp1
 intron_variant MODIFIER c.1285-20029A>T
c.1285-20029A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8386003
chr1:8386010 ATATATAT
others(16): Show 
ATATATATATATATTTTTTTTTTT
 A
A
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.1285-20059_1285-20
others(29): Show 
c.1285-20059_1285-20037delAAAAAAAAAAATATATATATATA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8386010
chr1:8386014 ATATATAT
others(10): Show 
ATATATATATTTTTTTTT
 A
A
 1 a0001c0004t0010g0107
a0001c0004t0010g0107
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.1285-20057_1285-20
others(23): Show 
c.1285-20057_1285-20041delAAAAAAAAATATATATA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8386014
chr1:8386016 A
A
 T
T
 1 a0001c0001t0001g0040
a0001c0001t0001g0040
 1 HG02155.hp1
HG02155.hp1
 intron_variant MODIFIER c.1285-20042T>A
c.1285-20042T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8386016
chr1:8386016 ATATATAT
others(11): Show 
ATATATATTTTTTTTTTTT
 A
A
 1 a0001c0002t0002g0152
a0001c0002t0002g0152
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.1285-20060_1285-20
others(24): Show 
c.1285-20060_1285-20043delAAAAAAAAAAAATATATA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8386016
chr1:8386018 A
A
 AT
AT
 2 a0001c0001t0006g0170
a0003c0008t0001g0031
a0001c0001t0006g0170
a0003c0008t0001g0031
 2 HG02698.hp2
HG03139.hp2
HG02698.hp2
HG03139.hp2
 intron_variant MODIFIER c.1285-20045dupA
c.1285-20045dupA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8386018
chr1:8386018 A
A
 T
T
 3 a0001c0001t0001g0040
a0001c0004t0025g0080
a0003c0008t0001g0072
a0001c0001t0001g0040
a0001c0004t0025g0080
a0003c0008t0001g0072
 3 HG02155.hp1
HG02647.hp1
HG04228.hp2
HG02155.hp1
HG02647.hp1
HG04228.hp2
 intron_variant MODIFIER c.1285-20044T>A
c.1285-20044T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8386018
chr1:8386018 ATATATTT
others(8): Show 
ATATATTTTTTTTTTT
 A
A
 1 a0001c0002t0013g0053
a0001c0002t0013g0053
 1 NA20905.hp1
NA20905.hp1
 intron_variant MODIFIER c.1285-20059_1285-20
others(21): Show 
c.1285-20059_1285-20045delAAAAAAAAAAATATA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8386018
chr1:8386019 TA
TA
 T
T
 2 a0001c0004t0005g0079
a0001c0007t0004g0047
a0001c0004t0005g0079
a0001c0007t0004g0047
 2 HG02735.hp2
NA19070.hp2
HG02735.hp2
NA19070.hp2
 intron_variant MODIFIER c.1285-20046delT
c.1285-20046delT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8386019
chr1:8386020 A
A
 T
T
 15 a0001c0001t0001g0040
a0001c0001t0001g0050
a0001c0001t0001g0052
others(12): Show 
a0001c0001t0001g0040
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0065
a0001c0001t0006g0170
a0001c0001t0036g0194
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0025g0080
a0001c0007t0003g0099
a0001c0018t0001g0005
a0002c0026t0008g0140
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
 15 HG01433.hp2
HG01981.hp1
HG02080.hp1
others(12): Show 
HG01433.hp2
HG01981.hp1
HG02080.hp1
HG02155.hp1
HG02602.hp2
HG02647.hp1
HG02698.hp2
HG03041.hp2
HG03139.hp2
HG03688.hp1
HG04228.hp2
NA18983.hp2
NA18985.hp2
NA19005.hp1
NA20752.hp2
 intron_variant MODIFIER c.1285-20046T>A
c.1285-20046T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8386020
chr1:8386020 ATATTTTT
others(8): Show 
ATATTTTTTTTTTTTT
 A
A
 1 a0001c0005t0009g0204
a0001c0005t0009g0204
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.1285-20061_1285-20
others(21): Show 
c.1285-20061_1285-20047delAAAAAAAAAAAAATA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8386020
chr1:8386021 TA
TA
 T
T
 7 a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0067
others(4): Show 
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0006g0153
a0001c0004t0001g0049
a0002c0006t0003g0139
 7 HG00609.hp2
HG01361.hp2
HG02004.hp2
others(4): Show 
HG00609.hp2
HG01361.hp2
HG02004.hp2
HG02523.hp1
HG03225.hp2
HG03831.hp2
NA19000.hp2
 intron_variant MODIFIER c.1285-20048delT
c.1285-20048delT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8386021
chr1:8386022 A
A
 AT
AT
 9 a0001c0001t0001g0061
a0001c0001t0001g0064
a0001c0001t0016g0054
others(6): Show 
a0001c0001t0001g0061
a0001c0001t0001g0064
a0001c0001t0016g0054
a0001c0003t0004g0010
a0001c0003t0004g0014
a0001c0003t0004g0068
a0001c0004t0003g0092
a0002c0006t0024g0081
a0009c0021t0003g0135
 9 HG00597.hp2
HG01175.hp2
HG01358.hp2
others(6): Show 
HG00597.hp2
HG01175.hp2
HG01358.hp2
HG01433.hp1
HG02258.hp2
HG02293.hp1
NA19005.hp2
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1285-20049dupA
c.1285-20049dupA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8386022
chr1:8386022 A
A
 ATATATAT
others(19): Show 
ATATATATATATATATATATATTTTTT
 1 a0001c0001t0001g0073
a0001c0001t0001g0073
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.1285-20049_1285-20
others(32): Show 
c.1285-20049_1285-20048insAAAAAATATATATATATATATATA
TA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8386022
chr1:8386022 A
A
 T
T
 24 a0001c0001t0001g0013
a0001c0001t0001g0033
a0001c0001t0001g0040
others(21): Show 
a0001c0001t0001g0013
a0001c0001t0001g0033
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0065
a0001c0001t0003g0095
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0006g0170
a0001c0001t0036g0194
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0025g0080
a0001c0007t0003g0099
a0001c0007t0004g0047
a0001c0018t0001g0005
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
 24 HG00609.hp1
HG01192.hp2
HG01433.hp2
others(21): Show 
HG00609.hp1
HG01192.hp2
HG01433.hp2
HG01884.hp2
HG01981.hp1
HG02080.hp1
HG02155.hp1
HG02602.hp2
HG02647.hp1
HG02698.hp2
HG02735.hp2
HG02970.hp1
HG03041.hp2
HG03139.hp2
HG03688.hp1
HG04228.hp2
NA18983.hp2
NA18985.hp2
NA19002.hp1
NA19005.hp1
NA19070.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
 intron_variant MODIFIER c.1285-20048T>A
c.1285-20048T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8386022
chr1:8386022 AT
AT
 A
A
 15 a0001c0001t0001g0048
a0001c0001t0001g0055
a0001c0001t0001g0056
others(12): Show 
a0001c0001t0001g0048
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0076
a0001c0001t0006g0184
a0001c0002t0002g0177
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0003t0011g0108
a0001c0003t0017g0032
 15 HG00140.hp2
HG00280.hp1
HG01167.hp2
others(12): Show 
HG00140.hp2
HG00280.hp1
HG01167.hp2
HG01168.hp1
HG01175.hp1
HG01255.hp2
HG01496.hp2
HG02486.hp2
HG03209.hp2
HG04115.hp2
HG04199.hp2
HG06807.hp2
NA18944.hp1
NA19085.hp2
NA19090.hp1
 intron_variant MODIFIER c.1285-20049delA
c.1285-20049delA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8386022
chr1:8386022 ATTT
ATTT
 A
A
 5 a0001c0002t0002g0149
a0001c0002t0002g0167
a0001c0002t0005g0125
others(2): Show 
a0001c0002t0002g0149
a0001c0002t0002g0167
a0001c0002t0005g0125
a0001c0003t0011g0096
a0001c0015t0001g0009
 5 HG02074.hp1
HG02602.hp1
HG02735.hp1
others(2): Show 
HG02074.hp1
HG02602.hp1
HG02735.hp1
HG02896.hp1
HG03453.hp1
 intron_variant MODIFIER c.1285-20051_1285-20
others(9): Show 
c.1285-20051_1285-20049delAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8386022
chr1:8386022 ATTTT
ATTTT
 A
A
 10 a0001c0002t0002g0148
a0001c0002t0002g0151
a0001c0002t0002g0159
others(7): Show 
a0001c0002t0002g0148
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0183
a0001c0002t0002g0193
a0001c0002t0005g0136
a0001c0023t0002g0175
 10 HG01261.hp2
HG01358.hp1
HG01934.hp2
others(7): Show 
HG01261.hp2
HG01358.hp1
HG01934.hp2
HG02886.hp1
HG04184.hp1
NA18939.hp2
NA18946.hp2
NA18967.hp2
NA19070.hp1
NA20752.hp1
 intron_variant MODIFIER c.1285-20052_1285-20
others(10): Show 
c.1285-20052_1285-20049delAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8386022
chr1:8386022 ATTTTT
ATTTTT
 A
A
 5 a0001c0002t0005g0116
a0001c0003t0011g0112
a0001c0005t0034g0156
others(2): Show 
a0001c0002t0005g0116
a0001c0003t0011g0112
a0001c0005t0034g0156
a0005c0013t0021g0023
a0005c0013t0029g0111
 5 HG00639.hp1
HG02622.hp1
HG02683.hp2
others(2): Show 
HG00639.hp1
HG02622.hp1
HG02683.hp2
HG03041.hp1
HG03471.hp1
 intron_variant MODIFIER c.1285-20053_1285-20
others(11): Show 
c.1285-20053_1285-20049delAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8386022
chr1:8386022 ATTTTTT
ATTTTTT
 A
A
 10 a0001c0002t0002g0150
a0001c0002t0002g0165
a0001c0002t0002g0171
others(7): Show 
a0001c0002t0002g0150
a0001c0002t0002g0165
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0006g0145
a0001c0002t0028g0133
a0001c0002t0033g0186
 10 HG01515.hp2
HG01517.hp1
HG01884.hp1
others(7): Show 
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01981.hp2
HG02486.hp1
HG03225.hp1
HG03491.hp1
HG04199.hp1
NA18906.hp2
NA19085.hp1
 intron_variant MODIFIER c.1285-20054_1285-20
others(12): Show 
c.1285-20054_1285-20049delAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8386022
chr1:8386022 ATTTTTTT
ATTTTTTT
 A
A
 5 a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0169
others(2): Show 
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0169
a0001c0002t0018g0002
a0001c0002t0035g0160
 5 HG02129.hp1
HG02132.hp2
HG02451.hp1
others(2): Show 
HG02129.hp1
HG02132.hp2
HG02451.hp1
HG02559.hp1
HG03669.hp2
 intron_variant MODIFIER c.1285-20055_1285-20
others(13): Show 
c.1285-20055_1285-20049delAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8386022
chr1:8386022 ATTTTTTT
others(1): Show 
ATTTTTTTT
 A
A
 7 a0001c0002t0002g0180
a0001c0002t0005g0130
a0001c0002t0005g0131
others(4): Show 
a0001c0002t0002g0180
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0016t0020g0001
a0001c0024t0002g0182
 7 HG02080.hp2
HG02109.hp2
HG02809.hp1
others(4): Show 
HG02080.hp2
HG02109.hp2
HG02809.hp1
HG02818.hp2
HG02896.hp2
HG03471.hp2
NA20129.hp2
 intron_variant MODIFIER c.1285-20056_1285-20
others(14): Show 
c.1285-20056_1285-20049delAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8386022
chr1:8386022 ATTTTTTT
others(2): Show 
ATTTTTTTTT
 A
A
 5 a0001c0004t0010g0120
a0001c0004t0040g0199
a0001c0005t0009g0201
others(2): Show 
a0001c0004t0010g0120
a0001c0004t0040g0199
a0001c0005t0009g0201
a0001c0005t0019g0030
a0007c0020t0039g0197
 5 HG01167.hp1
HG02257.hp2
HG02970.hp2
others(2): Show 
HG01167.hp1
HG02257.hp2
HG02970.hp2
HG03130.hp2
HG06807.hp1
 intron_variant MODIFIER c.1285-20057_1285-20
others(15): Show 
c.1285-20057_1285-20049delAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8386022
chr1:8386022 ATTTTTTT
others(3): Show 
ATTTTTTTTTT
 A
A
 8 a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
others(5): Show 
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0006c0025t0007g0025
 8 HG02145.hp1
HG02280.hp1
HG02451.hp2
others(5): Show 
HG02145.hp1
HG02280.hp1
HG02451.hp2
HG02647.hp2
HG02723.hp2
HG02809.hp2
HG02965.hp1
HG03540.hp2
 intron_variant MODIFIER c.1285-20058_1285-20
others(16): Show 
c.1285-20058_1285-20049delAAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8386022
chr1:8386022 ATTTTTTT
others(4): Show 
ATTTTTTTTTTT
 A
A
 4 a0001c0002t0002g0162
a0001c0004t0003g0109
a0001c0005t0009g0202
others(1): Show 
a0001c0002t0002g0162
a0001c0004t0003g0109
a0001c0005t0009g0202
a0001c0005t0009g0203
 4 HG02109.hp1
HG02559.hp2
HG03209.hp1
others(1): Show 
HG02109.hp1
HG02559.hp2
HG03209.hp1
NA21309.hp2
 intron_variant MODIFIER c.1285-20059_1285-20
others(17): Show 
c.1285-20059_1285-20049delAAAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8386022
chr1:8386022 ATTTTTTT
others(5): Show 
ATTTTTTTTTTTT
 A
A
 3 a0001c0002t0002g0179
a0001c0004t0010g0142
a0001c0005t0009g0200
a0001c0002t0002g0179
a0001c0004t0010g0142
a0001c0005t0009g0200
 3 HG03516.hp1
HG03516.hp2
HG03579.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp2
 intron_variant MODIFIER c.1285-20060_1285-20
others(18): Show 
c.1285-20060_1285-20049delAAAAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8386022
chr1:8386022 ATTTTTTT
others(6): Show 
ATTTTTTTTTTTTT
 A
A
 2 a0001c0004t0022g0121
a0001c0005t0026g0127
a0001c0004t0022g0121
a0001c0005t0026g0127
 2 HG02257.hp1
NA21309.hp1
HG02257.hp1
NA21309.hp1
 intron_variant MODIFIER c.1285-20061_1285-20
others(19): Show 
c.1285-20061_1285-20049delAAAAAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8386022
chr1:8386023 T
T
 TA
TA
 20 a0001c0001t0001g0066
a0001c0001t0003g0087
a0001c0001t0003g0088
others(17): Show 
a0001c0001t0001g0066
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0102
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0124
a0001c0001t0006g0154
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0003t0004g0007
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0036
a0001c0003t0015g0147
a0001c0004t0001g0003
a0001c0004t0014g0126
a0001c0009t0004g0016
a0001c0009t0004g0020
 20 HG00544.hp1
HG01168.hp2
HG01192.hp1
others(17): Show 
HG00544.hp1
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG01496.hp1
HG02027.hp1
HG02155.hp2
HG02280.hp2
HG02523.hp2
HG02698.hp1
HG02965.hp2
HG03491.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp2
HG04184.hp2
NA18973.hp1
NA18973.hp2
NA18993.hp2
NA20300.hp2
 intron_variant MODIFIER c.1285-20050_1285-20
others(7): Show 
c.1285-20050_1285-20049insT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8386023
chr1:8386023 T
T
 TATA
TATA
 4 a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0003t0004g0041
others(1): Show 
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0003t0004g0041
a0001c0003t0008g0105
 4 HG00741.hp2
HG02723.hp1
HG03130.hp1
others(1): Show 
HG00741.hp2
HG02723.hp1
HG03130.hp1
NA18939.hp1
 intron_variant MODIFIER c.1285-20050_1285-20
others(9): Show 
c.1285-20050_1285-20049insTAT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8386023
chr1:8386024 T
T
 A
A
 24 a0001c0001t0001g0015
a0001c0001t0001g0059
a0001c0001t0001g0070
others(21): Show 
a0001c0001t0001g0015
a0001c0001t0001g0059
a0001c0001t0001g0070
a0001c0001t0001g0077
a0001c0001t0003g0115
a0001c0001t0003g0122
a0001c0001t0006g0181
a0001c0002t0002g0158
a0001c0002t0002g0168
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0032g0155
a0001c0003t0004g0011
a0001c0003t0004g0035
a0001c0003t0004g0042
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0014t0002g0191
a0002c0006t0003g0089
a0004c0012t0008g0137
a0004c0012t0008g0138
a0008c0017t0003g0101
 24 HG00597.hp1
HG00639.hp2
HG00741.hp1
others(21): Show 
HG00597.hp1
HG00639.hp2
HG00741.hp1
HG01169.hp1
HG01261.hp1
HG01361.hp1
HG01934.hp1
HG02132.hp1
HG02145.hp2
HG02258.hp1
HG02622.hp2
HG02976.hp2
HG03195.hp1
HG03579.hp1
HG03654.hp1
HG04115.hp1
HG04228.hp1
NA18946.hp1
NA18993.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA20905.hp2
 intron_variant MODIFIER c.1285-20050A>T
c.1285-20050A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8386024
chr1:8386025 T
T
 A
A
 23 a0001c0001t0001g0048
a0001c0001t0001g0055
a0001c0001t0001g0076
others(20): Show 
a0001c0001t0001g0048
a0001c0001t0001g0055
a0001c0001t0001g0076
a0001c0001t0003g0102
a0001c0001t0003g0117
a0001c0001t0006g0154
a0001c0001t0031g0144
a0001c0002t0002g0157
a0001c0002t0002g0177
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0005g0110
a0001c0003t0004g0021
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0014g0126
a0001c0004t0027g0106
a0001c0009t0004g0016
a0001c0009t0004g0020
 23 HG00741.hp2
HG01168.hp1
HG01168.hp2
others(20): Show 
HG00741.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01192.hp1
HG01255.hp1
HG01255.hp2
HG02280.hp2
HG02723.hp1
HG02886.hp2
HG02965.hp2
HG03130.hp1
HG03209.hp2
HG03688.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18973.hp2
NA18993.hp2
NA19085.hp2
NA19090.hp1
NA20300.hp2
 intron_variant MODIFIER c.1285-20051A>T
c.1285-20051A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8386025
chr1:8386026 T
T
 A
A
 19 a0001c0001t0001g0059
a0001c0001t0001g0070
a0001c0001t0001g0077
others(16): Show 
a0001c0001t0001g0059
a0001c0001t0001g0070
a0001c0001t0001g0077
a0001c0001t0003g0115
a0001c0001t0003g0122
a0001c0001t0006g0181
a0001c0002t0002g0158
a0001c0002t0002g0161
a0001c0002t0002g0168
a0001c0002t0002g0178
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0005g0114
a0001c0002t0032g0155
a0001c0003t0008g0085
a0001c0014t0002g0191
a0001c0022t0008g0082
a0004c0012t0008g0137
a0004c0012t0008g0138
 19 HG00280.hp2
HG00597.hp1
HG00741.hp1
others(16): Show 
HG00280.hp2
HG00597.hp1
HG00741.hp1
HG01169.hp1
HG01261.hp1
HG01361.hp1
HG01934.hp1
HG02004.hp1
HG02027.hp2
HG02145.hp2
HG02293.hp2
HG02976.hp2
HG03195.hp1
HG03579.hp1
HG03654.hp1
HG04115.hp1
HG04228.hp1
NA19007.hp1
NA19009.hp1
 intron_variant MODIFIER c.1285-20052A>T
c.1285-20052A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8386026
chr1:8386027 T
T
 A
A
 13 a0001c0002t0002g0149
a0001c0002t0002g0167
a0001c0002t0002g0177
others(10): Show 
a0001c0002t0002g0149
a0001c0002t0002g0167
a0001c0002t0002g0177
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0005g0110
a0001c0002t0005g0125
a0001c0003t0004g0021
a0001c0003t0008g0105
a0001c0004t0014g0126
a0001c0009t0004g0016
a0001c0009t0004g0020
 13 HG00741.hp2
HG01168.hp1
HG01168.hp2
others(10): Show 
HG00741.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01192.hp1
HG01255.hp1
HG01255.hp2
HG02602.hp1
HG02723.hp1
HG02735.hp1
HG02965.hp2
HG03209.hp2
HG03453.hp1
 intron_variant MODIFIER c.1285-20053A>T
c.1285-20053A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8386027
chr1:8386028 T
T
 A
A
 23 a0001c0001t0003g0122
a0001c0002t0002g0148
a0001c0002t0002g0151
others(20): Show 
a0001c0001t0003g0122
a0001c0002t0002g0148
a0001c0002t0002g0151
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0166
a0001c0002t0002g0168
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0178
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0193
a0001c0002t0005g0114
a0001c0002t0005g0136
a0001c0002t0032g0155
a0001c0014t0002g0191
a0001c0022t0008g0082
a0001c0023t0002g0175
a0004c0012t0008g0137
a0004c0012t0008g0138
 23 HG00280.hp2
HG00741.hp1
HG01169.hp1
others(20): Show 
HG00280.hp2
HG00741.hp1
HG01169.hp1
HG01261.hp2
HG01358.hp1
HG01361.hp1
HG01934.hp2
HG02004.hp1
HG02027.hp2
HG02145.hp2
HG02293.hp2
HG02886.hp1
HG02976.hp2
HG03195.hp1
HG03579.hp1
HG03654.hp1
HG04184.hp1
HG04228.hp1
NA18939.hp2
NA18946.hp2
NA18967.hp2
NA19070.hp1
NA20752.hp1
 intron_variant MODIFIER c.1285-20054A>T
c.1285-20054A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8386028
chr1:8386029 T
T
 A
A
 10 a0001c0002t0002g0149
a0001c0002t0002g0167
a0001c0002t0002g0177
others(7): Show 
a0001c0002t0002g0149
a0001c0002t0002g0167
a0001c0002t0002g0177
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0005g0110
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0004t0014g0126
 10 HG00639.hp1
HG01168.hp1
HG01175.hp1
others(7): Show 
HG00639.hp1
HG01168.hp1
HG01175.hp1
HG01255.hp2
HG02602.hp1
HG02723.hp1
HG02735.hp1
HG02965.hp2
HG03209.hp2
HG03453.hp1
 intron_variant MODIFIER c.1285-20055A>T
c.1285-20055A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8386029
chr1:8386030 T
T
 A
A
 31 a0001c0001t0003g0122
a0001c0002t0002g0148
a0001c0002t0002g0150
others(28): Show 
a0001c0001t0003g0122
a0001c0002t0002g0148
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0168
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0178
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0193
a0001c0002t0005g0114
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0002t0033g0186
a0001c0014t0002g0191
a0001c0022t0008g0082
a0001c0023t0002g0175
 31 HG00280.hp2
HG00741.hp1
HG01169.hp1
others(28): Show 
HG00280.hp2
HG00741.hp1
HG01169.hp1
HG01261.hp2
HG01358.hp1
HG01361.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01934.hp2
HG01981.hp2
HG02004.hp1
HG02027.hp2
HG02145.hp2
HG02293.hp2
HG02486.hp1
HG02886.hp1
HG03225.hp1
HG03491.hp1
HG03579.hp1
HG03654.hp1
HG04184.hp1
HG04199.hp1
HG04228.hp1
NA18906.hp2
NA18939.hp2
NA18946.hp2
NA18967.hp2
NA19070.hp1
NA19085.hp1
NA20752.hp1
 intron_variant MODIFIER c.1285-20056A>T
c.1285-20056A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8386030
chr1:8386031 T
T
 A
A
 15 a0001c0002t0002g0149
a0001c0002t0002g0163
a0001c0002t0002g0164
others(12): Show 
a0001c0002t0002g0149
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0167
a0001c0002t0002g0169
a0001c0002t0002g0177
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0005g0110
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0018g0002
a0001c0002t0035g0160
a0001c0004t0014g0126
 15 HG00639.hp1
HG01168.hp1
HG01175.hp1
others(12): Show 
HG00639.hp1
HG01168.hp1
HG01175.hp1
HG01255.hp2
HG02129.hp1
HG02132.hp2
HG02451.hp1
HG02559.hp1
HG02602.hp1
HG02723.hp1
HG02735.hp1
HG02965.hp2
HG03209.hp2
HG03453.hp1
HG03669.hp2
 intron_variant MODIFIER c.1285-20057A>T
c.1285-20057A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8386031
chr1:8386032 T
T
 A
A
 34 a0001c0002t0002g0148
a0001c0002t0002g0150
a0001c0002t0002g0151
others(31): Show 
a0001c0002t0002g0148
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0168
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0178
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0193
a0001c0002t0005g0114
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0028g0133
a0001c0002t0033g0186
a0001c0014t0002g0191
a0001c0016t0020g0001
a0001c0022t0008g0082
a0001c0023t0002g0175
a0001c0024t0002g0182
 34 HG00280.hp2
HG00741.hp1
HG01261.hp2
others(31): Show 
HG00280.hp2
HG00741.hp1
HG01261.hp2
HG01358.hp1
HG01361.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01934.hp2
HG01981.hp2
HG02004.hp1
HG02027.hp2
HG02080.hp2
HG02109.hp2
HG02293.hp2
HG02486.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG03225.hp1
HG03471.hp2
HG03491.hp1
HG04184.hp1
HG04199.hp1
HG04228.hp1
NA18906.hp2
NA18939.hp2
NA18946.hp2
NA18967.hp2
NA19070.hp1
NA19085.hp1
NA20129.hp2
NA20752.hp1
 intron_variant MODIFIER c.1285-20058A>T
c.1285-20058A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8386032
chr1:8386033 T
T
 A
A
 14 a0001c0002t0002g0149
a0001c0002t0002g0163
a0001c0002t0002g0164
others(11): Show 
a0001c0002t0002g0149
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0167
a0001c0002t0002g0169
a0001c0002t0002g0177
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0005g0110
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0018g0002
a0001c0002t0035g0160
a0001c0004t0014g0126
 14 HG00639.hp1
HG01175.hp1
HG01255.hp2
others(11): Show 
HG00639.hp1
HG01175.hp1
HG01255.hp2
HG02129.hp1
HG02132.hp2
HG02451.hp1
HG02559.hp1
HG02602.hp1
HG02723.hp1
HG02735.hp1
HG02965.hp2
HG03209.hp2
HG03453.hp1
HG03669.hp2
 intron_variant MODIFIER c.1285-20059A>T
c.1285-20059A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8386033
chr1:8386034 T
T
 A
A
 30 a0001c0002t0002g0148
a0001c0002t0002g0150
a0001c0002t0002g0159
others(27): Show 
a0001c0002t0002g0148
a0001c0002t0002g0150
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0178
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0193
a0001c0002t0005g0114
a0001c0002t0005g0128
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0028g0133
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0016t0020g0001
a0001c0023t0002g0175
a0006c0025t0007g0025
 30 HG01358.hp1
HG01515.hp2
HG01517.hp1
others(27): Show 
HG01358.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01934.hp2
HG01981.hp2
HG02004.hp1
HG02027.hp2
HG02080.hp2
HG02109.hp2
HG02145.hp1
HG02293.hp2
HG02647.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02965.hp1
HG03471.hp2
HG03491.hp1
HG03540.hp2
HG04184.hp1
NA18906.hp2
NA18939.hp2
NA18946.hp2
NA18967.hp2
NA19070.hp1
NA19085.hp1
NA20129.hp2
NA20752.hp1
 intron_variant MODIFIER c.1285-20060A>T
c.1285-20060A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8386034
chr1:8386035 T
T
 A
A
 6 a0001c0002t0002g0162
a0001c0002t0002g0167
a0001c0002t0002g0169
others(3): Show 
a0001c0002t0002g0162
a0001c0002t0002g0167
a0001c0002t0002g0169
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0004t0003g0109
 6 HG00639.hp1
HG02132.hp2
HG02559.hp2
others(3): Show 
HG00639.hp1
HG02132.hp2
HG02559.hp2
HG02735.hp1
HG03453.hp1
NA21309.hp2
 intron_variant MODIFIER c.1285-20061A>T
c.1285-20061A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8386035
chr1:8386036 T
T
 A
A
 3 a0001c0002t0002g0166
a0001c0002t0002g0174
a0001c0023t0002g0175
a0001c0002t0002g0166
a0001c0002t0002g0174
a0001c0023t0002g0175
 3 NA18939.hp2
NA18946.hp2
NA19070.hp1
NA18939.hp2
NA18946.hp2
NA19070.hp1
 intron_variant MODIFIER c.1285-20062A>T
c.1285-20062A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8386036
chr1:8386037 T
T
 A
A
 2 a0001c0002t0002g0167
a0001c0002t0002g0169
a0001c0002t0002g0167
a0001c0002t0002g0169
 2 HG02132.hp2
HG02735.hp1
HG02132.hp2
HG02735.hp1
 intron_variant MODIFIER c.1285-20063A>T
c.1285-20063A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8386037
chr1:8386038 T
T
 A
A
 2 a0001c0002t0002g0166
a0001c0002t0002g0174
a0001c0002t0002g0166
a0001c0002t0002g0174
 2 NA18946.hp2
NA19070.hp1
NA18946.hp2
NA19070.hp1
 intron_variant MODIFIER c.1285-20064A>T
c.1285-20064A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8386038
chr1:8386056 C
C
 T
T
 1 a0001c0003t0004g0014
a0001c0003t0004g0014
 1 HG01358.hp2
HG01358.hp2
 intron_variant MODIFIER c.1285-20082G>A
c.1285-20082G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8386056
chr1:8386138 G
G
 A
A
 1 a0001c0002t0005g0110
a0001c0002t0005g0110
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.1285-20164C>T
c.1285-20164C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8386138
chr1:8386301 T
T
 C
C
 1 a0001c0004t0014g0126
a0001c0004t0014g0126
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.1285-20327A>G
c.1285-20327A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8386301
chr1:8386458 C
C
 T
T
 2 a0001c0004t0014g0126
a0001c0019t0014g0119
a0001c0004t0014g0126
a0001c0019t0014g0119
 2 HG02965.hp2
HG03195.hp2
HG02965.hp2
HG03195.hp2
 intron_variant MODIFIER c.1285-20484G>A
c.1285-20484G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8386458
chr1:8386461 C
C
 T
T
 1 a0001c0002t0032g0155
a0001c0002t0032g0155
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.1285-20487G>A
c.1285-20487G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8386461
chr1:8386567 A
A
 AGAACTCT
others(302): Show 
AGAACTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTG
CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT
CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA
CAGGCGCCCGCCACTACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGAC
GGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGAT
CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG
CGCCCGGCCC
 1 a0001c0001t0003g0087
a0001c0001t0003g0087
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.1285-20594_1285-20
others(315): Show 
c.1285-20594_1285-20593insGGGCCGGGCGCGGTGGCTCACGCC
TGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGG
AGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAA
TACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT
TGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA
GTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGAC
TCCGTCTCAAAAAAAAAAAAAAAAAAAAAGAGTTC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8386567
chr1:8386567 A
A
 AGAACTCT
others(302): Show 
AGAACTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTG
CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT
CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA
CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC
GGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGAT
CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG
CGCCCGGCCC
 27 a0001c0001t0001g0013
a0001c0001t0003g0088
a0001c0001t0003g0093
others(24): Show 
a0001c0001t0001g0013
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0141
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0030g0143
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0004t0005g0079
a0001c0004t0005g0123
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0008c0017t0003g0101
a0010c0027t0003g0086
 27 HG00609.hp1
HG01192.hp2
HG01496.hp1
others(24): Show 
HG00609.hp1
HG01192.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02602.hp2
HG02683.hp1
HG02735.hp2
HG03688.hp2
HG04115.hp1
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18983.hp1
NA18985.hp1
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19074.hp2
NA19090.hp2
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.1285-20594_1285-20
others(315): Show 
c.1285-20594_1285-20593insGGGCCGGGCGCGGTGGCTCACGCC
TGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGG
AGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAA
TACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT
TGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA
GTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGAC
TCCGTCTCAAAAAAAAAAAAAAAAAAAAAGAGTTC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8386567
chr1:8386567 A
A
 AGAACTCT
others(302): Show 
AGAACTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTG
CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT
CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA
CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC
GGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGAT
CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCG
CGCCCGGCCC
 1 a0001c0004t0005g0083
a0001c0004t0005g0083
 1 HG01433.hp2
HG01433.hp2
 intron_variant MODIFIER c.1285-20594_1285-20
others(315): Show 
c.1285-20594_1285-20593insGGGCCGGGCGCGGTGGCTCACACC
TGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGG
AGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAA
TACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT
TGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA
GTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGAC
TCCGTCTCAAAAAAAAAAAAAAAAAAAAAGAGTTC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8386567
chr1:8386567 A
A
 AGAACTCT
others(303): Show 
AGAACTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTT
GCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCC
TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT
ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA
CGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGA
TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC
GCGCCCGGCCC
 2 a0001c0004t0006g0146
a0001c0007t0001g0008
a0001c0004t0006g0146
a0001c0007t0001g0008
 2 HG03831.hp1
NA19043.hp1
HG03831.hp1
NA19043.hp1
 intron_variant MODIFIER c.1285-20594_1285-20
others(316): Show 
c.1285-20594_1285-20593insGGGCCGGGCGCGGTGGCTCACGCC
TGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGG
AGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAA
TACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT
TGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA
GTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGAC
TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGAGTTC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8386567
chr1:8386567 A
A
 AGAACTCT
others(308): Show 
AGAACTCTTTTTTTTTTTTTTTTTTTTTTTCTTTGAGACGGAGTCTCGCT
CTGTTGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT
CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG
GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT
AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT
CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG
CCACCGCGCCCGGCCC
 1 a0001c0001t0006g0153
a0001c0001t0006g0153
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.1285-20594_1285-20
others(321): Show 
c.1285-20594_1285-20593insGGGCCGGGCGCGGTGGCTCACGCC
TGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGG
AGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAA
TACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT
TGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA
GTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGAC
TCCGTCTCAAAGAAAAAAAAAAAAAAAAAAAAAAAGAGTTC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8386567
chr1:8386567 A
A
 AGAACTCT
others(304): Show 
AGAACTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT
TGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC
CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC
TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG
ACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG
ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC
CGCGCCCGGCCC
 1 a0001c0004t0001g0003
a0001c0004t0001g0003
 1 HG04184.hp2
HG04184.hp2
 intron_variant MODIFIER c.1285-20594_1285-20
others(317): Show 
c.1285-20594_1285-20593insGGGCCGGGCGCGGTGGCTCACGCC
TGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGG
AGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAA
TACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT
TGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA
GTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGAC
TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAGAGTTC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8386567
chr1:8386567 A
A
 AGAACTCT
others(309): Show 
AGAACTCTTTTTTTTTTTTTTTTTTTTTTTTCTTTGAGACGGAGTCTCGC
TCTGTTGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC
TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT
GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG
TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC
TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA
GCCACCGCGCCCGGCCC
 1 a0001c0001t0001g0061
a0001c0001t0001g0061
 1 NA20300.hp1
NA20300.hp1
 intron_variant MODIFIER c.1285-20594_1285-20
others(322): Show 
c.1285-20594_1285-20593insGGGCCGGGCGCGGTGGCTCACGCC
TGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGG
AGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAA
TACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT
TGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA
GTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGAC
TCCGTCTCAAAGAAAAAAAAAAAAAAAAAAAAAAAAGAGTTC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8386567
chr1:8386567 A
A
 AGAACTCT
others(308): Show 
AGAACTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT
CTGTTGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT
CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG
GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT
AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT
CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG
CCACCGCGCCCGGCCC
 1 a0001c0007t0004g0044
a0001c0007t0004g0044
 1 NA18964.hp2
NA18964.hp2
 intron_variant MODIFIER c.1285-20594_1285-20
others(321): Show 
c.1285-20594_1285-20593insGGGCCGGGCGCGGTGGCTCACGCC
TGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGG
AGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAA
TACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT
TGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA
GTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGAC
TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGTTC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8386567
chr1:8386567 A
A
 AGAACTCT
others(309): Show 
AGAACTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC
TCTGTTGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC
TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT
GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG
TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC
TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA
GCCACCGCGCCCGGCCC
 29 a0001c0001t0001g0015
a0001c0001t0001g0038
a0001c0001t0001g0039
others(26): Show 
a0001c0001t0001g0015
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0018t0001g0005
a0002c0006t0003g0139
 29 HG00280.hp1
HG00609.hp2
HG01167.hp2
others(26): Show 
HG00280.hp1
HG00609.hp2
HG01167.hp2
HG01169.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG02004.hp2
HG02027.hp1
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02523.hp1
HG02698.hp2
HG03491.hp2
HG03688.hp1
HG03831.hp2
HG04199.hp2
NA18944.hp1
NA18967.hp1
NA18983.hp2
NA18985.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA20300.hp2
 intron_variant MODIFIER c.1285-20594_1285-20
others(322): Show 
c.1285-20594_1285-20593insGGGCCGGGCGCGGTGGCTCACGCC
TGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGG
AGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAA
TACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT
TGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA
GTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGAC
TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGTTC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8386567
chr1:8386567 A
A
 AGAACTCT
others(310): Show 
AGAACTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG
CTCTGTTGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG
CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC
TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA
GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC
CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG
AGCCACCGCGCCCGGCCC
 9 a0001c0001t0001g0004
a0001c0001t0001g0060
a0001c0001t0001g0063
others(6): Show 
a0001c0001t0001g0004
a0001c0001t0001g0060
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0076
a0001c0007t0004g0047
a0009c0021t0003g0135
 9 HG00140.hp2
HG00597.hp2
HG01175.hp2
others(6): Show 
HG00140.hp2
HG00597.hp2
HG01175.hp2
HG02486.hp2
NA19000.hp2
NA19009.hp1
NA19070.hp2
NA19074.hp1
NA19090.hp1
 intron_variant MODIFIER c.1285-20594_1285-20
others(323): Show 
c.1285-20594_1285-20593insGGGCCGGGCGCGGTGGCTCACGCC
TGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGG
AGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAA
TACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT
TGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA
GTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGAC
TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGTTC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8386567
chr1:8386567 A
A
 AGAACTCT
others(311): Show 
AGAACTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC
GCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA
GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG
CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT
AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA
CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT
GAGCCACCGCGCCCGGCCC
 6 a0001c0001t0001g0043
a0001c0001t0001g0048
a0001c0001t0001g0073
others(3): Show 
a0001c0001t0001g0043
a0001c0001t0001g0048
a0001c0001t0001g0073
a0001c0001t0001g0074
a0003c0008t0001g0031
a0003c0008t0001g0071
 6 HG02074.hp2
HG02976.hp1
HG03041.hp2
others(3): Show 
HG02074.hp2
HG02976.hp1
HG03041.hp2
HG03139.hp1
HG03139.hp2
NA19085.hp2
 intron_variant MODIFIER c.1285-20594_1285-20
others(324): Show 
c.1285-20594_1285-20593insGGGCCGGGCGCGGTGGCTCACGCC
TGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGG
AGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAA
TACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT
TGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA
GTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGAC
TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGTTC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8386567
chr1:8386567 A
A
 AGAACTCT
others(312): Show 
AGAACTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT
CGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA
AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA
GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT
TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG
ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG
TGAGCCACCGCGCCCGGCCC
 1 a0003c0008t0001g0072
a0003c0008t0001g0072
 1 HG02647.hp1
HG02647.hp1
 intron_variant MODIFIER c.1285-20594_1285-20
others(325): Show 
c.1285-20594_1285-20593insGGGCCGGGCGCGGTGGCTCACGCC
TGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGG
AGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAA
TACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT
TGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA
GTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGAC
TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGTTC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8386567
chr1:8386567 A
A
 AGAACTCT
others(313): Show 
AGAACTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC
TCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC
AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT
AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT
TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT
GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC
GTGAGCCACCGCGCCCGGCCC
 2 a0001c0001t0001g0033
a0003c0008t0001g0006
a0001c0001t0001g0033
a0003c0008t0001g0006
 2 HG01884.hp2
HG02970.hp1
HG01884.hp2
HG02970.hp1
 intron_variant MODIFIER c.1285-20594_1285-20
others(326): Show 
c.1285-20594_1285-20593insGGGCCGGGCGCGGTGGCTCACGCC
TGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGG
AGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAA
TACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT
TGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA
GTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGAC
TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGTTC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8386567
chr1:8386567 A
A
 AGAACTCT
others(314): Show 
AGAACTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT
CTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG
CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG
TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT
TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC
TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG
CGTGAGCCACCGCGCCCGGCCC
 3 a0001c0001t0003g0095
a0001c0001t0003g0115
a0001c0001t0031g0144
a0001c0001t0003g0095
a0001c0001t0003g0115
a0001c0001t0031g0144
 3 HG00597.hp1
NA18993.hp2
NA20129.hp1
HG00597.hp1
NA18993.hp2
NA20129.hp1
 intron_variant MODIFIER c.1285-20594_1285-20
others(327): Show 
c.1285-20594_1285-20593insGGGCCGGGCGCGGTGGCTCACGCC
TGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGG
AGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAA
TACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT
TGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA
GTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGAC
TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGTTC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8386567
chr1:8386567 A
A
 AGAACTCT
others(315): Show 
AGAACTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG
TCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT
GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA
GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT
TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC
CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG
GCGTGAGCCACCGCGCCCGGCCC
 1 a0001c0001t0003g0117
a0001c0001t0003g0117
 1 NA18973.hp2
NA18973.hp2
 intron_variant MODIFIER c.1285-20594_1285-20
others(328): Show 
c.1285-20594_1285-20593insGGGCCGGGCGCGGTGGCTCACGCC
TGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGG
AGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAA
TACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT
TGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA
GTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGAC
TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGTTC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8386567
chr1:8386567 A
A
 AGAACTCT
others(318): Show 
AGAACTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG
GAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC
ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC
CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG
TATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGAT
CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA
CAGGCGTGAGCCACCGCGCCCGGCCC
 1 a0001c0001t0003g0118
a0001c0001t0003g0118
 1 HG02523.hp2
HG02523.hp2
 intron_variant MODIFIER c.1285-20594_1285-20
others(331): Show 
c.1285-20594_1285-20593insGGGCCGGGCGCGGTGGCTCACGCC
TGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGG
AGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAA
TACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT
TGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA
GTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGAC
TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGTT
C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8386567
chr1:8386567 A
A
 AGAACTCT
others(319): Show 
AGAACTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC
GGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT
CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC
CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT
GTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGA
TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT
ACAGGCGTGAGCCACCGCGCCCGGCCC
 2 a0001c0001t0001g0037
a0001c0001t0023g0113
a0001c0001t0001g0037
a0001c0001t0023g0113
 2 HG00544.hp1
NA18906.hp1
HG00544.hp1
NA18906.hp1
 intron_variant MODIFIER c.1285-20594_1285-20
others(332): Show 
c.1285-20594_1285-20593insGGGCCGGGCGCGGTGGCTCACGCC
TGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGG
AGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAA
TACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT
TGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA
GTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGAC
TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGT
TC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8386567
chr1:8386567 A
A
 AGAACTCT
others(320): Show 
AGAACTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA
CGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGC
TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT
CCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTT
TGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCG
ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT
TACAGGCGTGAGCCACCGCGCCCGGCCC
 1 a0001c0001t0003g0122
a0001c0001t0003g0122
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.1285-20594_1285-20
others(333): Show 
c.1285-20594_1285-20593insGGGCCGGGCGCGGTGGCTCACGCC
TGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGG
AGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAA
TACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT
TGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA
GTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGAC
TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAG
TTC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8386567
chr1:8386627 A
A
 C
C
 2 a0001c0001t0001g0061
a0001c0001t0006g0153
a0001c0001t0001g0061
a0001c0001t0006g0153
 2 HG03225.hp2
NA20300.hp1
HG03225.hp2
NA20300.hp1
 intron_variant MODIFIER c.1285-20653T>G
c.1285-20653T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8386627
chr1:8387036 G
G
 C
C
 1 a0001c0004t0003g0092
a0001c0004t0003g0092
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.1285-21062C>G
c.1285-21062C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8387036
chr1:8387177 T
T
 C
C
 90 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(87): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0018t0001g0005
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 90 HG00140.hp2
HG00280.hp1
HG00544.hp1
others(87): Show 
HG00140.hp2
HG00280.hp1
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02293.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp2
HG02735.hp2
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03491.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04184.hp2
HG04199.hp2
HG04228.hp2
NA18906.hp1
NA18944.hp1
NA18944.hp2
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19043.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.1285-21203A>G
c.1285-21203A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8387177
chr1:8387217 G
G
 A
A
 2 a0001c0004t0014g0126
a0001c0019t0014g0119
a0001c0004t0014g0126
a0001c0019t0014g0119
 2 HG02965.hp2
HG03195.hp2
HG02965.hp2
HG03195.hp2
 intron_variant MODIFIER c.1285-21243C>T
c.1285-21243C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8387217
chr1:8387344 C
C
 T
T
 169 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(166): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0033g0186
a0001c0002t0035g0160
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0014t0002g0191
a0001c0018t0001g0005
a0001c0022t0008g0082
a0001c0023t0002g0175
a0001c0024t0002g0182
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 169 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(166): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00741.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp2
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp2
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19043.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1285-21370G>A
c.1285-21370G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8387344
chr1:8387557 A
A
 T
T
 2 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0002t0002g0157
a0001c0002t0032g0155
 2 HG03130.hp1
HG03579.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.1285-21583T>A
c.1285-21583T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8387557
chr1:8387606 A
A
 G
G
 1 a0001c0001t0001g0066
a0001c0001t0001g0066
 1 HG02027.hp1
HG02027.hp1
 intron_variant MODIFIER c.1285-21632T>C
c.1285-21632T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8387606
chr1:8387662 C
C
 T
T
 164 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(161): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0033g0186
a0001c0002t0035g0160
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0014t0002g0191
a0001c0018t0001g0005
a0001c0022t0008g0082
a0001c0023t0002g0175
a0001c0024t0002g0182
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 164 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(161): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00741.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp2
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp2
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19043.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.1285-21688G>A
c.1285-21688G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8387662
chr1:8387876 G
G
 A
A
 1 a0001c0002t0002g0168
a0001c0002t0002g0168
 1 HG00741.hp1
HG00741.hp1
 intron_variant MODIFIER c.1285-21902C>T
c.1285-21902C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8387876
chr1:8388108 A
A
 G
G
 2 a0005c0013t0021g0023
a0005c0013t0029g0111
a0005c0013t0021g0023
a0005c0013t0029g0111
 2 HG03041.hp1
HG03471.hp1
HG03041.hp1
HG03471.hp1
 intron_variant MODIFIER c.1285-22134T>C
c.1285-22134T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8388108
chr1:8388262 A
A
 G
G
 1 a0001c0002t0005g0110
a0001c0002t0005g0110
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.1285-22288T>C
c.1285-22288T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8388262
chr1:8388285 G
G
 A
A
 1 a0003c0008t0001g0006
a0003c0008t0001g0006
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.1285-22311C>T
c.1285-22311C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8388285
chr1:8388294 G
G
 A
A
 2 a0001c0004t0014g0126
a0001c0019t0014g0119
a0001c0004t0014g0126
a0001c0019t0014g0119
 2 HG02965.hp2
HG03195.hp2
HG02965.hp2
HG03195.hp2
 intron_variant MODIFIER c.1285-22320C>T
c.1285-22320C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8388294
chr1:8388317 C
C
 CTT
CTT
 158 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(155): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0033g0186
a0001c0002t0035g0160
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0014t0002g0191
a0001c0018t0001g0005
a0001c0022t0008g0082
a0001c0023t0002g0175
a0001c0024t0002g0182
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 158 HG00280.hp1
HG00280.hp2
HG00544.hp1
others(155): Show 
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00741.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp2
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp2
NA18964.hp1
NA18964.hp2
NA18967.hp2
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19043.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.1285-22345_1285-22
others(8): Show 
c.1285-22345_1285-22344dupAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8388317
chr1:8388317 C
C
 CTTT
CTTT
 5 a0001c0001t0001g0063
a0001c0001t0001g0065
a0001c0001t0001g0075
others(2): Show 
a0001c0001t0001g0063
a0001c0001t0001g0065
a0001c0001t0001g0075
a0001c0002t0002g0161
a0001c0002t0002g0164
 5 HG00140.hp2
HG02027.hp2
HG02080.hp1
others(2): Show 
HG00140.hp2
HG02027.hp2
HG02080.hp1
HG02129.hp1
NA18967.hp1
 intron_variant MODIFIER c.1285-22346_1285-22
others(9): Show 
c.1285-22346_1285-22344dupAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8388317
chr1:8388344 A
A
 G
G
 173 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(170): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0157
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0002t0033g0186
a0001c0002t0035g0160
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0014t0002g0191
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0001c0023t0002g0175
a0001c0024t0002g0182
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 173 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(170): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00741.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp2
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp2
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19043.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1285-22370T>C
c.1285-22370T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8388344
chr1:8388351 C
C
 T
T
 1 a0001c0018t0001g0005
a0001c0018t0001g0005
 1 HG03688.hp1
HG03688.hp1
 intron_variant MODIFIER c.1285-22377G>A
c.1285-22377G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8388351
chr1:8388510 G
G
 A
A
 1 a0001c0009t0041g0198
a0001c0009t0041g0198
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.1285-22536C>T
c.1285-22536C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8388510
chr1:8388513 G
G
 A
A
 1 a0001c0004t0027g0106
a0001c0004t0027g0106
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.1285-22539C>T
c.1285-22539C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8388513
chr1:8388609 G
G
 A
A
 1 a0001c0001t0001g0038
a0001c0001t0001g0038
 1 HG02523.hp1
HG02523.hp1
 intron_variant MODIFIER c.1285-22635C>T
c.1285-22635C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8388609
chr1:8388649 C
C
 T
T
 1 a0001c0009t0041g0198
a0001c0009t0041g0198
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.1285-22675G>A
c.1285-22675G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8388649
chr1:8388752 AAT
AAT
 A
A
 169 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(166): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0033g0186
a0001c0002t0035g0160
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0014t0002g0191
a0001c0018t0001g0005
a0001c0022t0008g0082
a0001c0023t0002g0175
a0001c0024t0002g0182
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 169 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(166): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00741.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp2
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp2
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19043.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1285-22780_1285-22
others(8): Show 
c.1285-22780_1285-22779delAT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8388752
chr1:8389032 A
A
 G
G
 4 a0001c0004t0003g0109
a0001c0004t0040g0199
a0001c0009t0041g0198
others(1): Show 
a0001c0004t0003g0109
a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
 4 HG02145.hp1
HG02970.hp2
HG06807.hp1
others(1): Show 
HG02145.hp1
HG02970.hp2
HG06807.hp1
NA21309.hp2
 intron_variant MODIFIER c.1285-23058T>C
c.1285-23058T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8389032
chr1:8389338 G
G
 A
A
 2 a0005c0013t0021g0023
a0005c0013t0029g0111
a0005c0013t0021g0023
a0005c0013t0029g0111
 2 HG03041.hp1
HG03471.hp1
HG03041.hp1
HG03471.hp1
 intron_variant MODIFIER c.1285-23364C>T
c.1285-23364C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8389338
chr1:8389402 C
C
 T
T
 2 a0001c0004t0005g0083
a0001c0004t0027g0106
a0001c0004t0005g0083
a0001c0004t0027g0106
 2 HG01433.hp2
HG02886.hp2
HG01433.hp2
HG02886.hp2
 intron_variant MODIFIER c.1285-23428G>A
c.1285-23428G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8389402
chr1:8389503 C
C
 T
T
 1 a0002c0006t0003g0094
a0002c0006t0003g0094
 1 NA19074.hp2
NA19074.hp2
 intron_variant MODIFIER c.1285-23529G>A
c.1285-23529G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8389503
chr1:8389516 G
G
 A
A
 3 a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0022g0121
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0022g0121
 3 HG01167.hp1
HG02257.hp1
HG03453.hp2
HG01167.hp1
HG02257.hp1
HG03453.hp2
 intron_variant MODIFIER c.1285-23542C>T
c.1285-23542C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8389516
chr1:8389520 A
A
 G
G
 1 a0001c0004t0027g0106
a0001c0004t0027g0106
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.1285-23546T>C
c.1285-23546T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8389520
chr1:8389706 G
G
 A
A
 1 a0001c0004t0027g0106
a0001c0004t0027g0106
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.1285-23732C>T
c.1285-23732C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8389706
chr1:8389849 C
C
 T
T
 1 a0001c0011t0007g0027
a0001c0011t0007g0027
 1 HG02723.hp2
HG02723.hp2
 intron_variant MODIFIER c.1285-23875G>A
c.1285-23875G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8389849
chr1:8389855 T
T
 C
C
 1 a0001c0002t0005g0110
a0001c0002t0005g0110
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.1285-23881A>G
c.1285-23881A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8389855
chr1:8389891 T
T
 A
A
 1 a0001c0007t0001g0008
a0001c0007t0001g0008
 1 HG03831.hp1
HG03831.hp1
 intron_variant MODIFIER c.1285-23917A>T
c.1285-23917A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8389891
chr1:8390171 C
C
 T
T
 2 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0002t0002g0157
a0001c0002t0032g0155
 2 HG03130.hp1
HG03579.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.1285-24197G>A
c.1285-24197G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8390171
chr1:8390388 T
T
 C
C
 40 a0001c0001t0001g0013
a0001c0001t0001g0033
a0001c0001t0001g0037
others(37): Show 
a0001c0001t0001g0013
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0141
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0008c0017t0003g0101
a0010c0027t0003g0086
 40 HG00544.hp1
HG00597.hp1
HG00609.hp1
others(37): Show 
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG01192.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG02132.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02602.hp2
HG02683.hp1
HG02735.hp2
HG03669.hp1
HG03688.hp2
HG03831.hp1
HG04115.hp1
HG04228.hp2
NA18906.hp1
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.1285-24414A>G
c.1285-24414A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8390388
chr1:8390445 C
C
 A
A
 2 a0001c0001t0001g0061
a0001c0001t0006g0153
a0001c0001t0001g0061
a0001c0001t0006g0153
 2 HG03225.hp2
NA20300.hp1
HG03225.hp2
NA20300.hp1
 intron_variant MODIFIER c.1285-24471G>T
c.1285-24471G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8390445
chr1:8390453 T
T
 C
C
 1 a0001c0001t0023g0113
a0001c0001t0023g0113
 1 HG00544.hp1
HG00544.hp1
 intron_variant MODIFIER c.1285-24479A>G
c.1285-24479A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8390453
chr1:8390612 A
A
 G
G
 2 a0001c0004t0001g0003
a0009c0021t0003g0135
a0001c0004t0001g0003
a0009c0021t0003g0135
 2 HG01175.hp2
HG04184.hp2
HG01175.hp2
HG04184.hp2
 intron_variant MODIFIER c.1285-24638T>C
c.1285-24638T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8390612
chr1:8390647 A
A
 AT
AT
 173 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(170): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0157
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0002t0033g0186
a0001c0002t0035g0160
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0014t0002g0191
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0001c0023t0002g0175
a0001c0024t0002g0182
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 173 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(170): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00741.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp2
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp2
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19043.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1285-24674dupA
c.1285-24674dupA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8390647
chr1:8390672 A
A
 AT
AT
 4 a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
others(1): Show 
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0022g0121
 4 HG01167.hp1
HG02257.hp1
HG03453.hp2
others(1): Show 
HG01167.hp1
HG02257.hp1
HG03453.hp2
HG03579.hp2
 intron_variant MODIFIER c.1285-24699dupA
c.1285-24699dupA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8390672
chr1:8390966 C
C
 T
T
 2 a0005c0013t0021g0023
a0005c0013t0029g0111
a0005c0013t0021g0023
a0005c0013t0029g0111
 2 HG03041.hp1
HG03471.hp1
HG03041.hp1
HG03471.hp1
 intron_variant MODIFIER c.1285-24992G>A
c.1285-24992G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8390966
chr1:8391254 C
C
 T
T
 4 a0001c0004t0003g0109
a0001c0004t0040g0199
a0001c0009t0041g0198
others(1): Show 
a0001c0004t0003g0109
a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
 4 HG02145.hp1
HG02970.hp2
HG06807.hp1
others(1): Show 
HG02145.hp1
HG02970.hp2
HG06807.hp1
NA21309.hp2
 intron_variant MODIFIER c.1285-25280G>A
c.1285-25280G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8391254
chr1:8391272 G
G
 A
A
 7 a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
others(4): Show 
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0006c0025t0007g0025
 7 HG02280.hp1
HG02451.hp2
HG02647.hp2
others(4): Show 
HG02280.hp1
HG02451.hp2
HG02647.hp2
HG02723.hp2
HG02809.hp2
HG02965.hp1
HG03540.hp2
 intron_variant MODIFIER c.1285-25298C>T
c.1285-25298C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8391272
chr1:8391583 C
C
 A
A
 12 a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
others(9): Show 
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0019
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0078
a0001c0003t0015g0147
 12 HG00544.hp2
HG00639.hp2
HG01358.hp2
others(9): Show 
HG00544.hp2
HG00639.hp2
HG01358.hp2
HG02280.hp2
HG02698.hp1
HG03654.hp2
NA18939.hp1
NA18946.hp1
NA18973.hp1
NA18993.hp1
NA19009.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1285-25609G>T
c.1285-25609G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8391583
chr1:8391618 CTTTCT
CTTTCT
 C
C
 2 a0005c0013t0021g0023
a0005c0013t0029g0111
a0005c0013t0021g0023
a0005c0013t0029g0111
 2 HG03041.hp1
HG03471.hp1
HG03041.hp1
HG03471.hp1
 intron_variant MODIFIER c.1285-25649_1285-25
others(11): Show 
c.1285-25649_1285-25645delAGAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8391618
chr1:8391659 C
C
 T
T
 4 a0001c0001t0001g0015
a0001c0001t0001g0059
a0001c0001t0001g0060
others(1): Show 
a0001c0001t0001g0015
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0063
 4 HG00140.hp2
HG01261.hp1
HG02258.hp1
others(1): Show 
HG00140.hp2
HG01261.hp1
HG02258.hp1
HG02486.hp2
 intron_variant MODIFIER c.1285-25685G>A
c.1285-25685G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8391659
chr1:8391667 A
A
 C
C
 4 a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
others(1): Show 
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0022g0121
 4 HG01167.hp1
HG02257.hp1
HG03453.hp2
others(1): Show 
HG01167.hp1
HG02257.hp1
HG03453.hp2
HG03579.hp2
 intron_variant MODIFIER c.1285-25693T>G
c.1285-25693T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8391667
chr1:8391863 T
T
 C
C
 8 a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0050
others(5): Show 
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0065
a0001c0001t0036g0194
a0001c0007t0004g0044
a0001c0007t0004g0047
 8 HG02080.hp1
HG02155.hp1
NA18964.hp2
others(5): Show 
HG02080.hp1
HG02155.hp1
NA18964.hp2
NA18983.hp2
NA18985.hp2
NA19002.hp1
NA19005.hp1
NA19070.hp2
 intron_variant MODIFIER c.1285-25889A>G
c.1285-25889A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8391863
chr1:8391920 G
G
 A
A
 1 a0001c0003t0004g0017
a0001c0003t0004g0017
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.1285-25946C>T
c.1285-25946C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8391920
chr1:8392022 G
G
 C
C
 2 a0001c0004t0014g0126
a0001c0019t0014g0119
a0001c0004t0014g0126
a0001c0019t0014g0119
 2 HG02965.hp2
HG03195.hp2
HG02965.hp2
HG03195.hp2
 intron_variant MODIFIER c.1285-26048C>G
c.1285-26048C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8392022
chr1:8392164 A
A
 G
G
 1 a0001c0003t0017g0032
a0001c0003t0017g0032
 1 HG04115.hp2
HG04115.hp2
 intron_variant MODIFIER c.1285-26190T>C
c.1285-26190T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8392164
chr1:8392354 A
A
 T
T
 7 a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
others(4): Show 
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0006c0025t0007g0025
 7 HG02280.hp1
HG02451.hp2
HG02647.hp2
others(4): Show 
HG02280.hp1
HG02451.hp2
HG02647.hp2
HG02723.hp2
HG02809.hp2
HG02965.hp1
HG03540.hp2
 intron_variant MODIFIER c.1285-26380T>A
c.1285-26380T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8392354
chr1:8392396 A
A
 G
G
 2 a0001c0005t0009g0200
a0001c0005t0009g0204
a0001c0005t0009g0200
a0001c0005t0009g0204
 2 HG02818.hp1
HG03516.hp1
HG02818.hp1
HG03516.hp1
 intron_variant MODIFIER c.1285-26422T>C
c.1285-26422T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8392396
chr1:8392424 G
G
 A
A
 1 a0001c0001t0006g0170
a0001c0001t0006g0170
 1 HG02698.hp2
HG02698.hp2
 intron_variant MODIFIER c.1285-26450C>T
c.1285-26450C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8392424
chr1:8392475 C
C
 T
T
 2 a0005c0013t0021g0023
a0005c0013t0029g0111
a0005c0013t0021g0023
a0005c0013t0029g0111
 2 HG03041.hp1
HG03471.hp1
HG03041.hp1
HG03471.hp1
 intron_variant MODIFIER c.1285-26501G>A
c.1285-26501G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8392475
chr1:8392665 T
T
 C
C
 173 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(170): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0157
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0002t0033g0186
a0001c0002t0035g0160
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0014t0002g0191
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0001c0023t0002g0175
a0001c0024t0002g0182
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 173 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(170): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00741.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp2
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp2
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19043.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1285-26691A>G
c.1285-26691A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8392665
chr1:8392791 A
A
 T
T
 1 a0001c0002t0002g0158
a0001c0002t0002g0158
 1 HG03654.hp1
HG03654.hp1
 intron_variant MODIFIER c.1285-26817T>A
c.1285-26817T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8392791
chr1:8392813 C
C
 T
T
 1 a0002c0006t0003g0089
a0002c0006t0003g0089
 1 HG02132.hp1
HG02132.hp1
 intron_variant MODIFIER c.1285-26839G>A
c.1285-26839G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8392813
chr1:8392828 C
C
 T
T
 1 a0001c0001t0001g0015
a0001c0001t0001g0015
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.1285-26854G>A
c.1285-26854G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8392828
chr1:8392859 A
A
 C
C
 1 a0001c0002t0002g0183
a0001c0002t0002g0183
 1 HG01934.hp2
HG01934.hp2
 intron_variant MODIFIER c.1285-26885T>G
c.1285-26885T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8392859
chr1:8392885 C
C
 T
T
 1 a0001c0003t0004g0042
a0001c0003t0004g0042
 1 NA18993.hp1
NA18993.hp1
 intron_variant MODIFIER c.1285-26911G>A
c.1285-26911G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8392885
chr1:8392961 C
C
 T
T
 1 a0001c0004t0006g0146
a0001c0004t0006g0146
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.1285-26987G>A
c.1285-26987G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8392961
chr1:8393076 T
T
 C
C
 1 a0001c0004t0003g0109
a0001c0004t0003g0109
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.1285-27102A>G
c.1285-27102A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8393076
chr1:8393145 A
A
 G
G
 1 a0001c0001t0001g0055
a0001c0001t0001g0055
 1 HG04199.hp2
HG04199.hp2
 intron_variant MODIFIER c.1285-27171T>C
c.1285-27171T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8393145
chr1:8393666 T
T
 C
C
 1 a0001c0001t0003g0122
a0001c0001t0003g0122
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.1285-27692A>G
c.1285-27692A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8393666
chr1:8393735 A
A
 C
C
 1 a0001c0002t0005g0110
a0001c0002t0005g0110
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.1285-27761T>G
c.1285-27761T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8393735
chr1:8393867 C
C
 T
T
 2 a0005c0013t0021g0023
a0005c0013t0029g0111
a0005c0013t0021g0023
a0005c0013t0029g0111
 2 HG03041.hp1
HG03471.hp1
HG03041.hp1
HG03471.hp1
 intron_variant MODIFIER c.1285-27893G>A
c.1285-27893G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8393867
chr1:8393963 C
C
 T
T
 2 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0002t0002g0157
a0001c0002t0032g0155
 2 HG03130.hp1
HG03579.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.1285-27989G>A
c.1285-27989G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8393963
chr1:8394036 C
C
 T
T
 4 a0001c0004t0003g0109
a0001c0004t0040g0199
a0001c0009t0041g0198
others(1): Show 
a0001c0004t0003g0109
a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
 4 HG02145.hp1
HG02970.hp2
HG06807.hp1
others(1): Show 
HG02145.hp1
HG02970.hp2
HG06807.hp1
NA21309.hp2
 intron_variant MODIFIER c.1285-28062G>A
c.1285-28062G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8394036
chr1:8394147 A
A
 T
T
 1 a0001c0005t0019g0030
a0001c0005t0019g0030
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.1285-28173T>A
c.1285-28173T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8394147
chr1:8394514 G
G
 C
C
 1 a0001c0015t0001g0009
a0001c0015t0001g0009
 1 HG02896.hp1
HG02896.hp1
 intron_variant MODIFIER c.1284+28213C>G
c.1284+28213C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8394514
chr1:8394732 T
T
 C
C
 90 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(87): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0018t0001g0005
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 90 HG00140.hp2
HG00280.hp1
HG00544.hp1
others(87): Show 
HG00140.hp2
HG00280.hp1
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02293.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp2
HG02735.hp2
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03491.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04184.hp2
HG04199.hp2
HG04228.hp2
NA18906.hp1
NA18944.hp1
NA18944.hp2
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19043.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.1284+27995A>G
c.1284+27995A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8394732
chr1:8394810 A
A
 G
G
 1 a0008c0017t0003g0101
a0008c0017t0003g0101
 1 NA20905.hp2
NA20905.hp2
 intron_variant MODIFIER c.1284+27917T>C
c.1284+27917T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8394810
chr1:8395040 G
G
 C
C
 1 a0001c0002t0002g0159
a0001c0002t0002g0159
 1 NA20752.hp1
NA20752.hp1
 intron_variant MODIFIER c.1284+27687C>G
c.1284+27687C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8395040
chr1:8395112 T
T
 C
C
 3 a0001c0002t0002g0148
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0148
a0001c0002t0002g0158
a0001c0002t0002g0159
 3 HG03654.hp1
HG04184.hp1
NA20752.hp1
HG03654.hp1
HG04184.hp1
NA20752.hp1
 intron_variant MODIFIER c.1284+27615A>G
c.1284+27615A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8395112
chr1:8395197 C
C
 T
T
 1 a0001c0003t0012g0022
a0001c0003t0012g0022
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.1284+27530G>A
c.1284+27530G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8395197
chr1:8395283 C
C
 T
T
 1 a0001c0005t0034g0156
a0001c0005t0034g0156
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.1284+27444G>A
c.1284+27444G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8395283
chr1:8395368 G
G
 A
A
 2 a0001c0004t0014g0126
a0001c0019t0014g0119
a0001c0004t0014g0126
a0001c0019t0014g0119
 2 HG02965.hp2
HG03195.hp2
HG02965.hp2
HG03195.hp2
 intron_variant MODIFIER c.1284+27359C>T
c.1284+27359C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8395368
chr1:8395474 C
C
 CA
CA
 8 a0001c0001t0001g0069
a0001c0003t0004g0011
a0001c0003t0004g0012
others(5): Show 
a0001c0001t0001g0069
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0019
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0007t0003g0098
a0001c0018t0001g0005
 8 HG00544.hp2
HG03688.hp1
NA18939.hp1
others(5): Show 
HG00544.hp2
HG03688.hp1
NA18939.hp1
NA18946.hp1
NA18973.hp1
NA18993.hp1
NA19000.hp1
NA19000.hp2
 intron_variant MODIFIER c.1284+27252dupT
c.1284+27252dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8395474
chr1:8395474 CA
CA
 C
C
 82 a0001c0001t0001g0063
a0001c0001t0003g0102
a0001c0002t0002g0148
others(79): Show 
a0001c0001t0001g0063
a0001c0001t0003g0102
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0157
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0002t0033g0186
a0001c0002t0035g0160
a0001c0004t0003g0109
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0014t0002g0191
a0001c0019t0014g0119
a0001c0022t0008g0082
a0001c0023t0002g0175
a0001c0024t0002g0182
a0006c0025t0007g0025
a0007c0020t0039g0197
 82 HG00140.hp2
HG00280.hp2
HG00639.hp1
others(79): Show 
HG00140.hp2
HG00280.hp2
HG00639.hp1
HG00741.hp1
HG01167.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01255.hp2
HG01261.hp2
HG01358.hp1
HG01361.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01934.hp2
HG01981.hp2
HG02004.hp1
HG02027.hp2
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02622.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03688.hp2
HG04184.hp1
HG04199.hp1
HG04228.hp1
HG06807.hp1
NA18906.hp2
NA18939.hp2
NA18946.hp2
NA18967.hp2
NA19070.hp1
NA19085.hp1
NA20752.hp1
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1284+27252delT
c.1284+27252delT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8395474
chr1:8395571 T
T
 C
C
 1 a0001c0004t0027g0106
a0001c0004t0027g0106
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.1284+27156A>G
c.1284+27156A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8395571
chr1:8395586 G
G
 C
C
 1 a0009c0021t0003g0135
a0009c0021t0003g0135
 1 HG01175.hp2
HG01175.hp2
 intron_variant MODIFIER c.1284+27141C>G
c.1284+27141C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8395586
chr1:8395652 G
G
 T
T
 52 a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
others(49): Show 
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0033g0186
a0001c0002t0035g0160
a0001c0014t0002g0191
a0001c0022t0008g0082
a0001c0023t0002g0175
a0001c0024t0002g0182
 52 HG00280.hp2
HG00639.hp1
HG00741.hp1
others(49): Show 
HG00280.hp2
HG00639.hp1
HG00741.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01255.hp2
HG01261.hp2
HG01358.hp1
HG01361.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01934.hp2
HG01981.hp2
HG02004.hp1
HG02027.hp2
HG02080.hp2
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02293.hp2
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02735.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03654.hp1
HG03669.hp2
HG04184.hp1
HG04199.hp1
HG04228.hp1
NA18906.hp2
NA18939.hp2
NA18946.hp2
NA18967.hp2
NA19070.hp1
NA19085.hp1
NA20752.hp1
NA20905.hp1
 intron_variant MODIFIER c.1284+27075C>A
c.1284+27075C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8395652
chr1:8396022 G
G
 C
C
 2 a0001c0004t0014g0126
a0001c0019t0014g0119
a0001c0004t0014g0126
a0001c0019t0014g0119
 2 HG02965.hp2
HG03195.hp2
HG02965.hp2
HG03195.hp2
 intron_variant MODIFIER c.1284+26705C>G
c.1284+26705C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8396022
chr1:8396359 T
T
 C
C
 1 a0001c0001t0016g0054
a0001c0001t0016g0054
 1 HG02293.hp1
HG02293.hp1
 intron_variant MODIFIER c.1284+26368A>G
c.1284+26368A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8396359
chr1:8396853 A
A
 G
G
 3 a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
 3 HG02647.hp1
HG03041.hp2
HG03139.hp2
HG02647.hp1
HG03041.hp2
HG03139.hp2
 intron_variant MODIFIER c.1284+25874T>C
c.1284+25874T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8396853
chr1:8397354 C
C
 CTACGACT
others(29): Show 
CTACGACTCTGAGGGAGGTTCTATTTGTGCCCCCATT
 6 a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
others(3): Show 
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0019t0014g0119
 6 HG01167.hp1
HG02257.hp1
HG02965.hp2
others(3): Show 
HG01167.hp1
HG02257.hp1
HG02965.hp2
HG03195.hp2
HG03453.hp2
HG03579.hp2
 intron_variant MODIFIER c.1284+25337_1284+25
others(42): Show 
c.1284+25337_1284+25372dupAATGGGGGCACAAATAGAACCTCC
CTCAGAGTCGTA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8397354
chr1:8397563 G
G
 T
T
 52 a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
others(49): Show 
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0033g0186
a0001c0002t0035g0160
a0001c0014t0002g0191
a0001c0022t0008g0082
a0001c0023t0002g0175
a0001c0024t0002g0182
 52 HG00280.hp2
HG00639.hp1
HG00741.hp1
others(49): Show 
HG00280.hp2
HG00639.hp1
HG00741.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01255.hp2
HG01261.hp2
HG01358.hp1
HG01361.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01934.hp2
HG01981.hp2
HG02004.hp1
HG02027.hp2
HG02080.hp2
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02293.hp2
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02735.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03654.hp1
HG03669.hp2
HG04184.hp1
HG04199.hp1
HG04228.hp1
NA18906.hp2
NA18939.hp2
NA18946.hp2
NA18967.hp2
NA19070.hp1
NA19085.hp1
NA20752.hp1
NA20905.hp1
 intron_variant MODIFIER c.1284+25164C>A
c.1284+25164C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8397563
chr1:8397588 GA
GA
 G
G
 120 a0001c0001t0001g0013
a0001c0001t0001g0033
a0001c0001t0001g0037
others(117): Show 
a0001c0001t0001g0013
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0061
a0001c0001t0001g0074
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0102
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0157
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0193
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0002t0033g0186
a0001c0002t0035g0160
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0003g0099
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0014t0002g0191
a0001c0019t0014g0119
a0001c0022t0008g0082
a0001c0023t0002g0175
a0001c0024t0002g0182
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0010c0027t0003g0086
 120 HG00280.hp2
HG00544.hp1
HG00639.hp1
others(117): Show 
HG00280.hp2
HG00544.hp1
HG00639.hp1
HG00741.hp1
HG01167.hp1
HG01168.hp1
HG01169.hp1
HG01192.hp2
HG01255.hp2
HG01261.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp2
HG01981.hp2
HG02004.hp1
HG02027.hp2
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG04115.hp1
HG04184.hp1
HG04199.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18944.hp2
NA18946.hp2
NA18964.hp1
NA18967.hp2
NA18973.hp2
NA18985.hp1
NA18993.hp2
NA19002.hp2
NA19005.hp2
NA19043.hp1
NA19070.hp1
NA19074.hp2
NA19085.hp1
NA20129.hp1
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1284+25138delT
c.1284+25138delT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8397588
chr1:8397604 C
C
 A
A
 1 a0001c0004t0027g0106
a0001c0004t0027g0106
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.1284+25123G>T
c.1284+25123G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8397604
chr1:8397785 C
C
 T
T
 2 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0002t0002g0157
a0001c0002t0032g0155
 2 HG03130.hp1
HG03579.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.1284+24942G>A
c.1284+24942G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8397785
chr1:8398173 C
C
 T
T
 1 a0001c0003t0012g0022
a0001c0003t0012g0022
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.1284+24554G>A
c.1284+24554G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8398173
chr1:8398177 C
C
 T
T
 1 a0001c0003t0004g0035
a0001c0003t0004g0035
 1 HG00639.hp2
HG00639.hp2
 intron_variant MODIFIER c.1284+24550G>A
c.1284+24550G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8398177
chr1:8398306 A
A
 G
G
 1 a0001c0004t0003g0109
a0001c0004t0003g0109
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.1284+24421T>C
c.1284+24421T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8398306
chr1:8398424 GC
GC
 G
G
 4 a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
others(1): Show 
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0022g0121
 4 HG01167.hp1
HG02257.hp1
HG03453.hp2
others(1): Show 
HG01167.hp1
HG02257.hp1
HG03453.hp2
HG03579.hp2
 intron_variant MODIFIER c.1284+24302delG
c.1284+24302delG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8398424
chr1:8398734 C
C
 T
T
 7 a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
others(4): Show 
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
 7 HG02109.hp1
HG02257.hp2
HG02818.hp1
others(4): Show 
HG02109.hp1
HG02257.hp2
HG02818.hp1
HG03130.hp2
HG03209.hp1
HG03516.hp1
NA21309.hp1
 intron_variant MODIFIER c.1284+23993G>A
c.1284+23993G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8398734
chr1:8398867 C
C
 T
T
 2 a0005c0013t0021g0023
a0005c0013t0029g0111
a0005c0013t0021g0023
a0005c0013t0029g0111
 2 HG03041.hp1
HG03471.hp1
HG03041.hp1
HG03471.hp1
 intron_variant MODIFIER c.1284+23860G>A
c.1284+23860G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8398867
chr1:8399214 T
T
 C
C
 1 a0001c0001t0001g0065
a0001c0001t0001g0065
 1 HG02080.hp1
HG02080.hp1
 intron_variant MODIFIER c.1284+23513A>G
c.1284+23513A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8399214
chr1:8399299 G
G
 A
A
 1 a0001c0002t0005g0110
a0001c0002t0005g0110
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.1284+23428C>T
c.1284+23428C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8399299
chr1:8399681 T
T
 C
C
 1 a0009c0021t0003g0135
a0009c0021t0003g0135
 1 HG01175.hp2
HG01175.hp2
 intron_variant MODIFIER c.1284+23046A>G
c.1284+23046A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8399681
chr1:8399702 A
A
 T
T
 1 a0001c0002t0005g0110
a0001c0002t0005g0110
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.1284+23025T>A
c.1284+23025T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8399702
chr1:8399754 A
A
 C
C
 2 a0005c0013t0021g0023
a0005c0013t0029g0111
a0005c0013t0021g0023
a0005c0013t0029g0111
 2 HG03041.hp1
HG03471.hp1
HG03041.hp1
HG03471.hp1
 intron_variant MODIFIER c.1284+22973T>G
c.1284+22973T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8399754
chr1:8399772 T
T
 C
C
 1 a0001c0003t0004g0068
a0001c0003t0004g0068
 1 HG02258.hp2
HG02258.hp2
 intron_variant MODIFIER c.1284+22955A>G
c.1284+22955A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8399772
chr1:8399799 C
C
 CT
CT
 4 a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
others(1): Show 
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0022g0121
 4 HG01167.hp1
HG02257.hp1
HG03453.hp2
others(1): Show 
HG01167.hp1
HG02257.hp1
HG03453.hp2
HG03579.hp2
 intron_variant MODIFIER c.1284+22927dupA
c.1284+22927dupA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8399799
chr1:8399830 A
A
 G
G
 2 a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0012g0018
a0001c0003t0012g0022
 2 HG02622.hp2
NA19043.hp2
HG02622.hp2
NA19043.hp2
 intron_variant MODIFIER c.1284+22897T>C
c.1284+22897T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8399830
chr1:8400095 T
T
 A
A
 1 a0001c0004t0027g0106
a0001c0004t0027g0106
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.1284+22632A>T
c.1284+22632A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8400095
chr1:8400149 A
A
 C
C
 2 a0001c0007t0001g0008
a0001c0007t0003g0099
a0001c0007t0001g0008
a0001c0007t0003g0099
 2 HG03831.hp1
NA20752.hp2
HG03831.hp1
NA20752.hp2
 intron_variant MODIFIER c.1284+22578T>G
c.1284+22578T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8400149
chr1:8400187 TCA
TCA
 T
T
 22 a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
others(19): Show 
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0009t0004g0016
a0001c0009t0004g0020
a0002c0026t0008g0140
a0004c0012t0008g0137
a0004c0012t0008g0138
 22 HG00140.hp1
HG00544.hp2
HG00639.hp2
others(19): Show 
HG00140.hp1
HG00544.hp2
HG00639.hp2
HG00741.hp2
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG01358.hp2
HG01934.hp1
HG01981.hp1
HG02280.hp2
HG02698.hp1
HG02976.hp2
HG03195.hp1
HG03654.hp2
HG04115.hp2
NA18939.hp1
NA18946.hp1
NA18973.hp1
NA18993.hp1
NA19009.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1284+22538_1284+22
others(8): Show 
c.1284+22538_1284+22539delTG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8400187
chr1:8400219 C
C
 CAT
CAT
 38 a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
others(35): Show 
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0005g0114
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0033g0186
a0001c0002t0035g0160
a0001c0014t0002g0191
a0001c0022t0008g0082
a0001c0023t0002g0175
a0001c0024t0002g0182
 38 HG00280.hp2
HG01168.hp1
HG01169.hp1
others(35): Show 
HG00280.hp2
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01255.hp2
HG01261.hp2
HG01358.hp1
HG01361.hp1
HG01515.hp2
HG01517.hp1
HG01934.hp2
HG01981.hp2
HG02004.hp1
HG02080.hp2
HG02132.hp2
HG02293.hp2
HG02451.hp1
HG02486.hp1
HG02559.hp2
HG02602.hp1
HG02735.hp1
HG02896.hp2
HG03209.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03654.hp1
HG03669.hp2
HG04184.hp1
HG04199.hp1
HG04228.hp1
NA18939.hp2
NA18946.hp2
NA18967.hp2
NA19070.hp1
NA19085.hp1
NA20752.hp1
NA20905.hp1
 intron_variant MODIFIER c.1284+22506_1284+22
others(8): Show 
c.1284+22506_1284+22507dupAT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8400219
chr1:8400222 A
A
 ATATGTG
ATATGTG
 6 a0001c0002t0002g0168
a0001c0002t0005g0125
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0168
a0001c0002t0005g0125
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0022g0121
a0001c0019t0014g0119
 6 HG00741.hp1
HG01167.hp1
HG02257.hp1
others(3): Show 
HG00741.hp1
HG01167.hp1
HG02257.hp1
HG03195.hp2
HG03453.hp1
HG03453.hp2
 intron_variant MODIFIER c.1284+22504_1284+22
others(12): Show 
c.1284+22504_1284+22505insCACATA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8400222
chr1:8400222 A
A
 ATATGTGT
others(1): Show 
ATATGTGTG
 2 a0001c0001t0001g0055
a0001c0002t0002g0161
a0001c0001t0001g0055
a0001c0002t0002g0161
 2 HG02027.hp2
HG04199.hp2
HG02027.hp2
HG04199.hp2
 intron_variant MODIFIER c.1284+22504_1284+22
others(14): Show 
c.1284+22504_1284+22505insCACACATA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8400222
chr1:8400222 A
A
 ATATGTGT
others(3): Show 
ATATGTGTGTG
 2 a0001c0001t0023g0113
a0001c0002t0018g0002
a0001c0001t0023g0113
a0001c0002t0018g0002
 2 HG00544.hp1
HG02559.hp1
HG00544.hp1
HG02559.hp1
 intron_variant MODIFIER c.1284+22504_1284+22
others(16): Show 
c.1284+22504_1284+22505insCACACACATA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8400222
chr1:8400222 A
A
 ATATGTGT
others(5): Show 
ATATGTGTGTGTG
 17 a0001c0001t0001g0004
a0001c0001t0001g0043
a0001c0001t0001g0056
others(14): Show 
a0001c0001t0001g0004
a0001c0001t0001g0043
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0003g0122
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0002t0005g0129
a0001c0004t0001g0049
a0001c0004t0010g0142
a0009c0021t0003g0135
 17 HG00140.hp2
HG00280.hp1
HG00597.hp2
others(14): Show 
HG00140.hp2
HG00280.hp1
HG00597.hp2
HG00609.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp2
HG01496.hp2
HG02074.hp2
HG02145.hp2
HG02486.hp2
HG03225.hp1
HG03225.hp2
HG03579.hp2
NA19074.hp1
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.1284+22504_1284+22
others(18): Show 
c.1284+22504_1284+22505insCACACACACATA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8400222
chr1:8400222 A
A
 ATATGTGT
others(7): Show 
ATATGTGTGTGTGTG
 27 a0001c0001t0001g0015
a0001c0001t0001g0039
a0001c0001t0001g0040
others(24): Show 
a0001c0001t0001g0015
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0059
a0001c0001t0001g0065
a0001c0001t0001g0069
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0184
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0004t0003g0092
a0001c0004t0014g0126
a0001c0007t0004g0044
a0001c0018t0001g0005
a0002c0006t0003g0139
 27 HG01261.hp1
HG01361.hp2
HG01433.hp1
others(24): Show 
HG01261.hp1
HG01361.hp2
HG01433.hp1
HG02004.hp2
HG02080.hp1
HG02109.hp2
HG02129.hp2
HG02155.hp1
HG02258.hp1
HG02523.hp2
HG02818.hp2
HG02886.hp1
HG02965.hp2
HG03471.hp2
HG03669.hp1
HG03688.hp1
NA18906.hp2
NA18944.hp1
NA18964.hp2
NA18973.hp2
NA18985.hp2
NA18993.hp2
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19085.hp2
 intron_variant MODIFIER c.1284+22504_1284+22
others(20): Show 
c.1284+22504_1284+22505insCACACACACACATA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8400222
chr1:8400222 A
A
 ATATGTGT
others(9): Show 
ATATGTGTGTGTGTGTG
 20 a0001c0001t0001g0013
a0001c0001t0001g0033
a0001c0001t0001g0037
others(17): Show 
a0001c0001t0001g0013
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0066
a0001c0001t0001g0070
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0003g0088
a0001c0001t0003g0095
a0001c0001t0003g0115
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0170
a0001c0002t0002g0157
a0001c0002t0005g0128
a0001c0004t0006g0146
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0004g0047
a0008c0017t0003g0101
 20 HG00597.hp1
HG01192.hp2
HG01496.hp1
others(17): Show 
HG00597.hp1
HG01192.hp2
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG02027.hp1
HG02683.hp1
HG02698.hp2
HG02976.hp1
HG03130.hp1
HG03491.hp2
NA18906.hp1
NA18983.hp1
NA19000.hp1
NA19009.hp1
NA19043.hp1
NA19070.hp2
NA19090.hp1
NA20129.hp1
NA20905.hp2
 intron_variant MODIFIER c.1284+22504_1284+22
others(22): Show 
c.1284+22504_1284+22505insCACACACACACACATA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8400222
chr1:8400222 A
A
 ATATGTGT
others(11): Show 
ATATGTGTGTGTGTGTGTG
 15 a0001c0001t0001g0038
a0001c0001t0001g0046
a0001c0001t0001g0067
others(12): Show 
a0001c0001t0001g0038
a0001c0001t0001g0046
a0001c0001t0001g0067
a0001c0001t0001g0075
a0001c0001t0003g0102
a0001c0001t0038g0195
a0001c0002t0005g0130
a0001c0002t0032g0155
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0025g0080
a0001c0007t0001g0008
a0001c0007t0003g0099
a0010c0027t0003g0086
 15 HG01433.hp2
HG01515.hp1
HG02165.hp2
others(12): Show 
HG01433.hp2
HG01515.hp1
HG02165.hp2
HG02523.hp1
HG02602.hp2
HG02735.hp2
HG02809.hp1
HG03579.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04228.hp2
NA18967.hp1
NA18985.hp1
NA20752.hp2
 intron_variant MODIFIER c.1284+22504_1284+22
others(24): Show 
c.1284+22504_1284+22505insCACACACACACACACATA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8400222
chr1:8400222 A
A
 ATATGTGT
others(13): Show 
ATATGTGTGTGTGTGTGTGTG
 10 a0001c0001t0001g0052
a0001c0001t0001g0073
a0001c0001t0006g0181
others(7): Show 
a0001c0001t0001g0052
a0001c0001t0001g0073
a0001c0001t0006g0181
a0001c0001t0030g0143
a0001c0004t0001g0003
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0003c0008t0001g0006
 10 HG02155.hp2
HG02970.hp1
HG03139.hp1
others(7): Show 
HG02155.hp2
HG02970.hp1
HG03139.hp1
HG04115.hp1
HG04184.hp2
NA18944.hp2
NA18983.hp2
NA19002.hp2
NA19005.hp2
NA19074.hp2
 intron_variant MODIFIER c.1284+22504_1284+22
others(26): Show 
c.1284+22504_1284+22505insCACACACACACACACACATA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8400222
chr1:8400222 A
A
 ATATGTGT
others(15): Show 
ATATGTGTGTGTGTGTGTGTGTG
 6 a0001c0001t0003g0104
a0001c0001t0016g0054
a0002c0006t0003g0090
others(3): Show 
a0001c0001t0003g0104
a0001c0001t0016g0054
a0002c0006t0003g0090
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
 6 HG00609.hp1
HG02165.hp1
HG02293.hp1
others(3): Show 
HG00609.hp1
HG02165.hp1
HG02293.hp1
HG02647.hp1
HG03041.hp2
HG03139.hp2
 intron_variant MODIFIER c.1284+22504_1284+22
others(28): Show 
c.1284+22504_1284+22505insCACACACACACACACACACATA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8400222
chr1:8400222 A
A
 ATATGTGT
others(17): Show 
ATATGTGTGTGTGTGTGTGTGTGTG
 3 a0001c0001t0003g0093
a0001c0001t0003g0100
a0001c0001t0037g0196
a0001c0001t0003g0093
a0001c0001t0003g0100
a0001c0001t0037g0196
 3 HG01517.hp2
NA18964.hp1
NA19007.hp2
HG01517.hp2
NA18964.hp1
NA19007.hp2
 intron_variant MODIFIER c.1284+22504_1284+22
others(30): Show 
c.1284+22504_1284+22505insCACACACACACACACACACACATA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8400222
chr1:8400222 A
A
 ATATGTGT
others(19): Show 
ATATGTGTGTGTGTGTGTGTGTGTGTG
 1 a0001c0001t0003g0103
a0001c0001t0003g0103
 1 NA19090.hp2
NA19090.hp2
 intron_variant MODIFIER c.1284+22504_1284+22
others(32): Show 
c.1284+22504_1284+22505insCACACACACACACACACACACACA
TA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8400222
chr1:8400222 A
A
 ATG
ATG
 4 a0001c0002t0002g0164
a0001c0003t0004g0035
a0001c0003t0008g0105
others(1): Show 
a0001c0002t0002g0164
a0001c0003t0004g0035
a0001c0003t0008g0105
a0001c0003t0012g0022
 4 HG00639.hp2
HG00741.hp2
HG02129.hp1
others(1): Show 
HG00639.hp2
HG00741.hp2
HG02129.hp1
NA19043.hp2
 intron_variant MODIFIER c.1284+22503_1284+22
others(8): Show 
c.1284+22503_1284+22504dupCA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8400222
chr1:8400222 A
A
 ATGTGTGT
others(9): Show 
ATGTGTGTGTGTGTGTG
 1 a0002c0006t0003g0089
a0002c0006t0003g0089
 1 HG02132.hp1
HG02132.hp1
 intron_variant MODIFIER c.1284+22489_1284+22
others(22): Show 
c.1284+22489_1284+22504dupCACACACACACACACA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8400222
chr1:8400222 ATG
ATG
 A
A
 17 a0001c0004t0003g0109
a0001c0004t0027g0106
a0001c0004t0040g0199
others(14): Show 
a0001c0004t0003g0109
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0009t0041g0198
a0001c0010t0007g0034
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0007c0020t0039g0197
 17 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(14): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp2
HG02622.hp1
HG02723.hp2
HG02818.hp1
HG02886.hp2
HG02965.hp1
HG02970.hp2
HG03130.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1284+22503_1284+22
others(8): Show 
c.1284+22503_1284+22504delCA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8400222
chr1:8400222 ATGTG
ATGTG
 A
A
 3 a0001c0010t0007g0026
a0001c0010t0013g0024
a0006c0025t0007g0025
a0001c0010t0007g0026
a0001c0010t0013g0024
a0006c0025t0007g0025
 3 HG02647.hp2
HG02809.hp2
HG03540.hp2
HG02647.hp2
HG02809.hp2
HG03540.hp2
 intron_variant MODIFIER c.1284+22501_1284+22
others(10): Show 
c.1284+22501_1284+22504delCACA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8400222
chr1:8400224 G
G
 A
A
 3 a0001c0002t0005g0110
a0005c0013t0021g0023
a0005c0013t0029g0111
a0001c0002t0005g0110
a0005c0013t0021g0023
a0005c0013t0029g0111
 3 HG02723.hp1
HG03041.hp1
HG03471.hp1
HG02723.hp1
HG03041.hp1
HG03471.hp1
 intron_variant MODIFIER c.1284+22503C>T
c.1284+22503C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8400224
chr1:8400226 G
G
 A
A
 13 a0001c0004t0027g0106
a0001c0005t0009g0200
a0001c0005t0009g0201
others(10): Show 
a0001c0004t0027g0106
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0010t0007g0034
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
 13 HG02109.hp1
HG02257.hp2
HG02280.hp1
others(10): Show 
HG02109.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp2
HG02622.hp1
HG02723.hp2
HG02818.hp1
HG02886.hp2
HG02965.hp1
HG03130.hp2
HG03209.hp1
HG03516.hp1
NA21309.hp1
 intron_variant MODIFIER c.1284+22501C>T
c.1284+22501C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8400226
chr1:8400228 G
G
 A
A
 3 a0001c0010t0007g0026
a0001c0010t0013g0024
a0006c0025t0007g0025
a0001c0010t0007g0026
a0001c0010t0013g0024
a0006c0025t0007g0025
 3 HG02647.hp2
HG02809.hp2
HG03540.hp2
HG02647.hp2
HG02809.hp2
HG03540.hp2
 intron_variant MODIFIER c.1284+22499C>T
c.1284+22499C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8400228
chr1:8400384 T
T
 C
C
 2 a0005c0013t0021g0023
a0005c0013t0029g0111
a0005c0013t0021g0023
a0005c0013t0029g0111
 2 HG03041.hp1
HG03471.hp1
HG03041.hp1
HG03471.hp1
 intron_variant MODIFIER c.1284+22343A>G
c.1284+22343A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8400384
chr1:8400443 G
G
 A
A
 35 a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0038
others(32): Show 
a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0075
a0001c0001t0003g0124
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0018t0001g0005
a0002c0006t0003g0139
a0009c0021t0003g0135
 35 HG00140.hp2
HG00280.hp1
HG00597.hp2
others(32): Show 
HG00140.hp2
HG00280.hp1
HG00597.hp2
HG00609.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02486.hp2
HG02523.hp1
HG02698.hp2
HG03491.hp2
HG03688.hp1
HG03831.hp2
HG04199.hp2
NA18944.hp1
NA18964.hp2
NA18967.hp1
NA18983.hp2
NA18985.hp2
NA19002.hp1
NA19005.hp1
NA19070.hp2
NA19074.hp1
NA20300.hp2
 intron_variant MODIFIER c.1284+22284C>T
c.1284+22284C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8400443
chr1:8400575 A
A
 C
C
 2 a0001c0004t0014g0126
a0001c0019t0014g0119
a0001c0004t0014g0126
a0001c0019t0014g0119
 2 HG02965.hp2
HG03195.hp2
HG02965.hp2
HG03195.hp2
 intron_variant MODIFIER c.1284+22152T>G
c.1284+22152T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8400575
chr1:8400644 G
G
 C
C
 9 a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
others(6): Show 
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0018g0002
a0001c0002t0028g0133
 9 HG01884.hp1
HG02109.hp2
HG02559.hp1
others(6): Show 
HG01884.hp1
HG02109.hp2
HG02559.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03225.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.1284+22083C>G
c.1284+22083C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8400644
chr1:8400837 CA
CA
 C
C
 17 a0001c0001t0001g0037
a0001c0001t0001g0061
a0001c0001t0001g0066
others(14): Show 
a0001c0001t0001g0037
a0001c0001t0001g0061
a0001c0001t0001g0066
a0001c0001t0001g0070
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0100
a0001c0001t0003g0122
a0001c0001t0006g0153
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0002t0002g0157
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0007t0003g0098
a0002c0006t0003g0091
a0004c0012t0008g0138
 17 HG00609.hp2
HG02027.hp1
HG02145.hp2
others(14): Show 
HG00609.hp2
HG02027.hp1
HG02145.hp2
HG02293.hp1
HG02976.hp2
HG03130.hp1
HG03225.hp2
HG04115.hp1
HG04184.hp2
NA18906.hp1
NA19000.hp1
NA19002.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19090.hp1
NA20300.hp1
 intron_variant MODIFIER c.1284+21889delT
c.1284+21889delT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8400837
chr1:8400837 CAA
CAA
 C
C
 89 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(86): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0102
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0161
a0001c0002t0002g0168
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0002t0033g0186
a0001c0004t0003g0092
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0142
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0040g0199
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0018t0001g0005
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0006c0025t0007g0025
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 89 HG00140.hp2
HG00280.hp1
HG00544.hp1
others(86): Show 
HG00140.hp2
HG00280.hp1
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00741.hp1
HG01167.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG02004.hp2
HG02027.hp2
HG02074.hp2
HG02080.hp1
HG02132.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp2
HG02809.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03491.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04199.hp2
HG04228.hp2
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp2
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19043.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA20129.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.1284+21888_1284+21
others(8): Show 
c.1284+21888_1284+21889delTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8400837
chr1:8400837 CAAA
CAAA
 C
C
 58 a0001c0001t0001g0051
a0001c0002t0002g0148
a0001c0002t0002g0149
others(55): Show 
a0001c0001t0001g0051
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0193
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0035g0160
a0001c0004t0003g0109
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0014g0126
a0001c0004t0027g0106
a0001c0009t0041g0198
a0001c0014t0002g0191
a0001c0019t0014g0119
a0001c0022t0008g0082
a0001c0023t0002g0175
a0001c0024t0002g0182
a0005c0013t0021g0023
a0005c0013t0029g0111
a0007c0020t0039g0197
 58 HG00280.hp2
HG00639.hp1
HG01167.hp1
others(55): Show 
HG00280.hp2
HG00639.hp1
HG01167.hp1
HG01168.hp1
HG01169.hp1
HG01261.hp2
HG01358.hp1
HG01361.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01934.hp2
HG01981.hp2
HG02004.hp1
HG02080.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02145.hp1
HG02293.hp2
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp2
HG02965.hp2
HG03041.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03654.hp1
HG03669.hp2
HG04184.hp1
HG04199.hp1
HG04228.hp1
HG06807.hp1
NA18939.hp2
NA18946.hp2
NA18967.hp2
NA19070.hp1
NA19085.hp1
NA20752.hp1
NA20905.hp1
NA21309.hp2
 intron_variant MODIFIER c.1284+21887_1284+21
others(9): Show 
c.1284+21887_1284+21889delTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8400837
chr1:8400837 CAAAA
CAAAA
 C
C
 8 a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
others(5): Show 
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
 8 HG02109.hp1
HG02257.hp2
HG02622.hp1
others(5): Show 
HG02109.hp1
HG02257.hp2
HG02622.hp1
HG02818.hp1
HG03130.hp2
HG03209.hp1
HG03516.hp1
NA21309.hp1
 intron_variant MODIFIER c.1284+21886_1284+21
others(10): Show 
c.1284+21886_1284+21889delTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8400837
chr1:8400859 A
A
 C
C
 1 a0001c0003t0004g0041
a0001c0003t0004g0041
 1 NA18939.hp1
NA18939.hp1
 intron_variant MODIFIER c.1284+21868T>G
c.1284+21868T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8400859
chr1:8401001 C
C
 G
G
 164 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(161): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0033g0186
a0001c0002t0035g0160
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0014t0002g0191
a0001c0018t0001g0005
a0001c0022t0008g0082
a0001c0023t0002g0175
a0001c0024t0002g0182
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 164 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(161): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00741.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp2
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp2
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19043.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.1284+21726G>C
c.1284+21726G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8401001
chr1:8401017 CAA
CAA
 C
C
 53 a0001c0001t0001g0015
a0001c0001t0001g0040
a0001c0001t0001g0043
others(50): Show 
a0001c0001t0001g0015
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0063
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0003g0103
a0001c0001t0003g0122
a0001c0001t0023g0113
a0001c0001t0031g0144
a0001c0002t0002g0189
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0014g0126
a0001c0004t0027g0106
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0004g0047
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0019t0014g0119
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
 53 HG00140.hp2
HG00544.hp1
HG00609.hp2
others(50): Show 
HG00140.hp2
HG00544.hp1
HG00609.hp2
HG01168.hp1
HG01884.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp2
HG02559.hp1
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03516.hp1
HG03540.hp2
HG04184.hp2
NA18906.hp2
NA18993.hp2
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19070.hp2
NA19085.hp2
NA19090.hp2
NA21309.hp1
 intron_variant MODIFIER c.1284+21708_1284+21
others(8): Show 
c.1284+21708_1284+21709delTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8401017
chr1:8401017 CAAA
CAAA
 C
C
 41 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0033
others(38): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0061
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0030g0143
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0008c0017t0003g0101
a0010c0027t0003g0086
 41 HG00597.hp1
HG00609.hp1
HG01192.hp2
others(38): Show 
HG00597.hp1
HG00609.hp1
HG01192.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02602.hp2
HG02683.hp1
HG02735.hp2
HG03130.hp1
HG03225.hp2
HG03579.hp1
HG03669.hp1
HG03688.hp2
HG03831.hp1
HG04115.hp1
HG04228.hp2
NA18906.hp1
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp1
NA19074.hp2
NA20129.hp1
NA20300.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.1284+21707_1284+21
others(9): Show 
c.1284+21707_1284+21709delTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8401017
chr1:8401031 A
A
 C
C
 1 a0001c0004t0003g0109
a0001c0004t0003g0109
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.1284+21696T>G
c.1284+21696T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8401031
chr1:8401032 A
A
 AACCATAT
others(4): Show 
AACCATATATAT
 1 a0001c0002t0005g0110
a0001c0002t0005g0110
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.1284+21694_1284+21
others(17): Show 
c.1284+21694_1284+21695insATATATATGGT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8401032
chr1:8401034 A
A
 ACCATATA
others(9): Show 
ACCATATATATATATAT
 1 a0001c0004t0010g0142
a0001c0004t0010g0142
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.1284+21692_1284+21
others(22): Show 
c.1284+21692_1284+21693insATATATATATATATGG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8401034
chr1:8401034 A
A
 T
T
 1 a0001c0002t0005g0110
a0001c0002t0005g0110
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.1284+21693T>A
c.1284+21693T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8401034
chr1:8401034 AAACCATA
others(3): Show 
AAACCATATAT
 A
A
 1 a0001c0004t0040g0199
a0001c0004t0040g0199
 1 HG02970.hp2
HG02970.hp2
 intron_variant MODIFIER c.1284+21683_1284+21
others(16): Show 
c.1284+21683_1284+21692delATATATGGTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8401034
chr1:8401034 AAACCATA
others(5): Show 
AAACCATATATAT
 A
A
 2 a0001c0009t0041g0198
a0007c0020t0039g0197
a0001c0009t0041g0198
a0007c0020t0039g0197
 2 HG02145.hp1
HG06807.hp1
HG02145.hp1
HG06807.hp1
 intron_variant MODIFIER c.1284+21681_1284+21
others(18): Show 
c.1284+21681_1284+21692delATATATATGGTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8401034
chr1:8401035 A
A
 C
C
 25 a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0045
others(22): Show 
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0076
a0001c0001t0003g0124
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0004t0003g0092
a0001c0007t0004g0044
a0001c0018t0001g0005
a0002c0006t0003g0139
a0009c0021t0003g0135
 25 HG00280.hp1
HG00597.hp2
HG01167.hp2
others(22): Show 
HG00280.hp1
HG00597.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG02004.hp2
HG02080.hp1
HG02165.hp2
HG02523.hp1
HG02698.hp2
HG03491.hp2
HG03688.hp1
HG03831.hp2
HG04199.hp2
NA18944.hp1
NA18964.hp2
NA18983.hp2
NA18985.hp2
NA19002.hp1
NA19090.hp1
NA20300.hp2
 intron_variant MODIFIER c.1284+21692T>G
c.1284+21692T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8401035
chr1:8401036 A
A
 C
C
 70 a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0045
others(67): Show 
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0076
a0001c0001t0003g0124
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0190
a0001c0002t0002g0193
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0134
a0001c0002t0013g0053
a0001c0002t0033g0186
a0001c0002t0035g0160
a0001c0004t0003g0092
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0022g0121
a0001c0007t0004g0044
a0001c0014t0002g0191
a0001c0018t0001g0005
a0001c0022t0008g0082
a0001c0023t0002g0175
a0001c0024t0002g0182
a0002c0006t0003g0139
a0009c0021t0003g0135
 70 HG00280.hp1
HG00280.hp2
HG00597.hp2
others(67): Show 
HG00280.hp1
HG00280.hp2
HG00597.hp2
HG00639.hp1
HG00741.hp1
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp1
HG01934.hp2
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02080.hp1
HG02080.hp2
HG02129.hp1
HG02132.hp2
HG02165.hp2
HG02257.hp1
HG02293.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp2
HG02602.hp1
HG02698.hp2
HG02735.hp1
HG02818.hp2
HG02896.hp2
HG03209.hp2
HG03453.hp2
HG03491.hp2
HG03516.hp2
HG03540.hp1
HG03654.hp1
HG03669.hp2
HG03688.hp1
HG03831.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04228.hp1
NA18939.hp2
NA18944.hp1
NA18946.hp2
NA18964.hp2
NA18967.hp2
NA18983.hp2
NA18985.hp2
NA19002.hp1
NA19070.hp1
NA19085.hp1
NA19090.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
 intron_variant MODIFIER c.1284+21691T>G
c.1284+21691T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8401036
chr1:8401036 A
A
 T
T
 2 a0001c0002t0005g0110
a0001c0004t0010g0142
a0001c0002t0005g0110
a0001c0004t0010g0142
 2 HG02723.hp1
HG03579.hp2
HG02723.hp1
HG03579.hp2
 intron_variant MODIFIER c.1284+21691T>A
c.1284+21691T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8401036
chr1:8401037 C
C
 A
A
 6 a0001c0002t0005g0110
a0001c0003t0004g0007
a0001c0003t0004g0042
others(3): Show 
a0001c0002t0005g0110
a0001c0003t0004g0007
a0001c0003t0004g0042
a0001c0003t0008g0085
a0001c0003t0011g0112
a0001c0004t0010g0142
 6 HG01934.hp1
HG02683.hp2
HG02723.hp1
others(3): Show 
HG01934.hp1
HG02683.hp2
HG02723.hp1
HG03579.hp2
HG03654.hp2
NA18993.hp1
 intron_variant MODIFIER c.1284+21690G>T
c.1284+21690G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8401037
chr1:8401037 CCATA
CCATA
 C
C
 20 a0001c0001t0001g0039
a0001c0001t0001g0045
a0001c0001t0001g0052
others(17): Show 
a0001c0001t0001g0039
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0003g0124
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0004t0003g0092
a0001c0007t0004g0044
a0002c0006t0003g0139
 20 HG00280.hp1
HG00597.hp2
HG01167.hp2
others(17): Show 
HG00280.hp1
HG00597.hp2
HG01167.hp2
HG01169.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG02004.hp2
HG02080.hp1
HG02698.hp2
HG03491.hp2
HG03831.hp2
HG04199.hp2
NA18944.hp1
NA18964.hp2
NA18983.hp2
NA18985.hp2
NA19002.hp1
NA20300.hp2
 intron_variant MODIFIER c.1284+21686_1284+21
others(10): Show 
c.1284+21686_1284+21689delTATG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8401037
chr1:8401037 CCATAT
CCATAT
 C
C
 3 a0001c0002t0002g0152
a0001c0004t0010g0107
a0001c0004t0022g0121
a0001c0002t0002g0152
a0001c0004t0010g0107
a0001c0004t0022g0121
 3 HG02257.hp1
HG03453.hp2
HG03540.hp1
HG02257.hp1
HG03453.hp2
HG03540.hp1
 intron_variant MODIFIER c.1284+21685_1284+21
others(11): Show 
c.1284+21685_1284+21689delATATG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8401037
chr1:8401037 CCATATAT
CCATATAT
 C
C
 11 a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0165
others(8): Show 
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0173
a0001c0002t0002g0176
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0013g0053
a0001c0004t0010g0120
a0001c0023t0002g0175
 11 HG01167.hp1
HG02080.hp2
HG02451.hp1
others(8): Show 
HG01167.hp1
HG02080.hp2
HG02451.hp1
HG02559.hp2
HG03516.hp2
HG04199.hp1
NA18939.hp2
NA18967.hp2
NA19070.hp1
NA19085.hp1
NA20905.hp1
 intron_variant MODIFIER c.1284+21683_1284+21
others(13): Show 
c.1284+21683_1284+21689delATATATG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8401037
chr1:8401037 CCATATAT
others(2): Show 
CCATATATAT
 C
C
 28 a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
others(25): Show 
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0164
a0001c0002t0002g0167
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0174
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0190
a0001c0002t0002g0193
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0033g0186
a0001c0002t0035g0160
a0001c0014t0002g0191
a0001c0022t0008g0082
a0001c0024t0002g0182
 28 HG00280.hp2
HG00639.hp1
HG00741.hp1
others(25): Show 
HG00280.hp2
HG00639.hp1
HG00741.hp1
HG01169.hp1
HG01255.hp2
HG01261.hp2
HG01358.hp1
HG01361.hp1
HG01515.hp2
HG01517.hp1
HG01934.hp2
HG01981.hp2
HG02004.hp1
HG02027.hp2
HG02129.hp1
HG02132.hp2
HG02293.hp2
HG02486.hp1
HG02602.hp1
HG02735.hp1
HG02896.hp2
HG03209.hp2
HG03654.hp1
HG03669.hp2
HG04184.hp1
HG04228.hp1
NA18946.hp2
NA20752.hp1
 intron_variant MODIFIER c.1284+21681_1284+21
others(15): Show 
c.1284+21681_1284+21689delATATATATG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8401037
chr1:8401037 CCATATAT
others(4): Show 
CCATATATATAT
 C
C
 1 a0001c0002t0005g0134
a0001c0002t0005g0134
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.1284+21679_1284+21
others(17): Show 
c.1284+21679_1284+21689delATATATATATG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8401037
chr1:8401038 C
C
 CATATATA
others(1): Show 
CATATATAT
 2 a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0004g0016
a0001c0009t0004g0020
 2 HG01168.hp2
HG01255.hp1
HG01168.hp2
HG01255.hp1
 intron_variant MODIFIER c.1284+21681_1284+21
others(14): Show 
c.1284+21681_1284+21688dupATATATAT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8401038
chr1:8401038 C
C
 CATATATA
others(3): Show 
CATATATATAT
 2 a0001c0003t0008g0105
a0001c0003t0012g0018
a0001c0003t0008g0105
a0001c0003t0012g0018
 2 HG00741.hp2
HG02622.hp2
HG00741.hp2
HG02622.hp2
 intron_variant MODIFIER c.1284+21679_1284+21
others(16): Show 
c.1284+21679_1284+21688dupATATATATAT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8401038
chr1:8401038 C
C
 CATATATA
others(5): Show 
CATATATATATAT
 1 a0001c0003t0015g0147
a0001c0003t0015g0147
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.1284+21677_1284+21
others(18): Show 
c.1284+21677_1284+21688dupATATATATATAT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8401038
chr1:8401038 C
C
 CATATATA
others(7): Show 
CATATATATATATAT
 1 a0001c0003t0004g0078
a0001c0003t0004g0078
 1 NA19009.hp2
NA19009.hp2
 intron_variant MODIFIER c.1284+21675_1284+21
others(20): Show 
c.1284+21675_1284+21688dupATATATATATATAT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8401038
chr1:8401038 C
C
 CATATATA
others(9): Show 
CATATATATATATATAT
 3 a0001c0003t0004g0017
a0002c0026t0008g0140
a0004c0012t0008g0138
a0001c0003t0004g0017
a0002c0026t0008g0140
a0004c0012t0008g0138
 3 HG00140.hp1
HG01981.hp1
HG02976.hp2
HG00140.hp1
HG01981.hp1
HG02976.hp2
 intron_variant MODIFIER c.1284+21673_1284+21
others(22): Show 
c.1284+21673_1284+21688dupATATATATATATATAT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8401038
chr1:8401038 C
C
 CATATATA
others(11): Show 
CATATATATATATATATAT
 1 a0001c0003t0004g0010
a0001c0003t0004g0010
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1284+21671_1284+21
others(24): Show 
c.1284+21671_1284+21688dupATATATATATATATATAT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8401038
chr1:8401038 C
C
 CATATATA
others(13): Show 
CATATATATATATATATATAT
 2 a0001c0003t0004g0041
a0004c0012t0008g0137
a0001c0003t0004g0041
a0004c0012t0008g0137
 2 HG03195.hp1
NA18939.hp1
HG03195.hp1
NA18939.hp1
 intron_variant MODIFIER c.1284+21669_1284+21
others(26): Show 
c.1284+21669_1284+21688dupATATATATATATATATATAT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8401038
chr1:8401038 C
C
 CATATATA
others(15): Show 
CATATATATATATATATATATAT
 1 a0001c0003t0017g0032
a0001c0003t0017g0032
 1 HG04115.hp2
HG04115.hp2
 intron_variant MODIFIER c.1284+21667_1284+21
others(28): Show 
c.1284+21667_1284+21688dupATATATATATATATATATATAT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8401038
chr1:8401038 C
C
 CATATATA
others(17): Show 
CATATATATATATATATATATATAT
 2 a0001c0003t0004g0011
a0001c0003t0004g0036
a0001c0003t0004g0011
a0001c0003t0004g0036
 2 HG02698.hp1
NA18946.hp1
HG02698.hp1
NA18946.hp1
 intron_variant MODIFIER c.1284+21665_1284+21
others(30): Show 
c.1284+21665_1284+21688dupATATATATATATATATATATATAT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8401038
chr1:8401038 C
C
 CATATATA
others(19): Show 
CATATATATATATATATATATATATAT
 1 a0001c0003t0012g0022
a0001c0003t0012g0022
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.1284+21663_1284+21
others(32): Show 
c.1284+21663_1284+21688dupATATATATATATATATATATATAT
AT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8401038
chr1:8401038 C
C
 CATATATA
others(153): Show 
CATATATATATATATATATATATATATACATATATATATATATATATATA
CATATATATATATATATATATATATATATATATACATATATATATATATA
TATATATATATATATATATACATATATATATATATATATATATATATATA
TATACATGTAT
 1 a0001c0004t0003g0109
a0001c0004t0003g0109
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.1284+21688_1284+21
others(166): Show 
c.1284+21688_1284+21689insATACATGTATATATATATATATAT
ATATATATATATATATGTATATATATATATATATATATATATATATATAT
ATGTATATATATATATATATATATATATATATATATGTATATATATATAT
ATATATATGTATATATATATATATATATATATATAT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8401038
chr1:8401038 C
C
 CATATATA
others(21): Show 
CATATATATATATATATATATATATATAT
 1 a0001c0003t0004g0014
a0001c0003t0004g0014
 1 HG01358.hp2
HG01358.hp2
 intron_variant MODIFIER c.1284+21661_1284+21
others(34): Show 
c.1284+21661_1284+21688dupATATATATATATATATATATATAT
ATAT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8401038
chr1:8401038 C
C
 CCATATAT
others(8): Show 
CCATATATATATATAT
 1 a0001c0003t0008g0085
a0001c0003t0008g0085
 1 HG01934.hp1
HG01934.hp1
 intron_variant MODIFIER c.1284+21688_1284+21
others(21): Show 
c.1284+21688_1284+21689insATATATATATATATG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8401038
chr1:8401038 C
C
 CCATATAT
others(16): Show 
CCATATATATATATATATATATAT
 1 a0001c0003t0004g0007
a0001c0003t0004g0007
 1 HG03654.hp2
HG03654.hp2
 intron_variant MODIFIER c.1284+21688_1284+21
others(29): Show 
c.1284+21688_1284+21689insATATATATATATATATATATATG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8401038
chr1:8401038 C
C
 T
T
 7 a0001c0001t0001g0038
a0001c0001t0001g0046
a0001c0001t0001g0076
others(4): Show 
a0001c0001t0001g0038
a0001c0001t0001g0046
a0001c0001t0001g0076
a0001c0002t0005g0110
a0001c0004t0010g0142
a0001c0018t0001g0005
a0009c0021t0003g0135
 7 HG01175.hp2
HG02165.hp2
HG02523.hp1
others(4): Show 
HG01175.hp2
HG02165.hp2
HG02523.hp1
HG02723.hp1
HG03579.hp2
HG03688.hp1
NA19090.hp1
 intron_variant MODIFIER c.1284+21689G>A
c.1284+21689G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8401038
chr1:8401038 CAT
CAT
 C
C
 9 a0001c0001t0001g0004
a0001c0001t0001g0061
a0001c0001t0006g0153
others(6): Show 
a0001c0001t0001g0004
a0001c0001t0001g0061
a0001c0001t0006g0153
a0001c0002t0032g0155
a0001c0010t0007g0026
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0029
a0006c0025t0007g0025
 9 HG02280.hp1
HG02647.hp2
HG02723.hp2
others(6): Show 
HG02280.hp1
HG02647.hp2
HG02723.hp2
HG02809.hp2
HG03225.hp2
HG03540.hp2
HG03579.hp1
NA19074.hp1
NA20300.hp1
 intron_variant MODIFIER c.1284+21687_1284+21
others(8): Show 
c.1284+21687_1284+21688delAT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8401038
chr1:8401038 CATATAT
CATATAT
 C
C
 4 a0001c0002t0002g0157
a0001c0005t0034g0156
a0005c0013t0021g0023
others(1): Show 
a0001c0002t0002g0157
a0001c0005t0034g0156
a0005c0013t0021g0023
a0005c0013t0029g0111
 4 HG02622.hp1
HG03041.hp1
HG03130.hp1
others(1): Show 
HG02622.hp1
HG03041.hp1
HG03130.hp1
HG03471.hp1
 intron_variant MODIFIER c.1284+21683_1284+21
others(12): Show 
c.1284+21683_1284+21688delATATAT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8401038
chr1:8401038 CATATATA
others(1): Show 
CATATATAT
 C
C
 5 a0001c0002t0002g0189
a0001c0002t0002g0192
a0001c0002t0006g0145
others(2): Show 
a0001c0002t0002g0189
a0001c0002t0002g0192
a0001c0002t0006g0145
a0001c0003t0011g0096
a0001c0003t0011g0108
 5 HG01168.hp1
HG01175.hp1
HG02074.hp1
others(2): Show 
HG01168.hp1
HG01175.hp1
HG02074.hp1
HG03491.hp1
HG06807.hp2
 intron_variant MODIFIER c.1284+21681_1284+21
others(14): Show 
c.1284+21681_1284+21688delATATATAT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8401038
chr1:8401038 CATATATA
others(3): Show 
CATATATATAT
 C
C
 11 a0001c0001t0037g0196
a0001c0002t0005g0128
a0001c0002t0005g0129
others(8): Show 
a0001c0001t0037g0196
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0136
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0003t0004g0019
a0001c0016t0020g0001
 11 HG01517.hp2
HG01884.hp1
HG02109.hp2
others(8): Show 
HG01517.hp2
HG01884.hp1
HG02109.hp2
HG02559.hp1
HG02809.hp1
HG02886.hp1
HG03225.hp1
HG03471.hp2
NA18906.hp2
NA18973.hp1
NA20129.hp2
 intron_variant MODIFIER c.1284+21679_1284+21
others(16): Show 
c.1284+21679_1284+21688delATATATATAT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8401038
chr1:8401038 CATATATA
others(5): Show 
CATATATATATAT
 C
C
 9 a0001c0004t0014g0126
a0001c0005t0009g0200
a0001c0005t0009g0201
others(6): Show 
a0001c0004t0014g0126
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0019t0014g0119
 9 HG02109.hp1
HG02257.hp2
HG02818.hp1
others(6): Show 
HG02109.hp1
HG02257.hp2
HG02818.hp1
HG02965.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03516.hp1
NA21309.hp1
 intron_variant MODIFIER c.1284+21677_1284+21
others(18): Show 
c.1284+21677_1284+21688delATATATATATAT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8401038
chr1:8401038 CATATATA
others(11): Show 
CATATATATATATATATAT
 C
C
 1 a0001c0015t0001g0009
a0001c0015t0001g0009
 1 HG02896.hp1
HG02896.hp1
 intron_variant MODIFIER c.1284+21671_1284+21
others(24): Show 
c.1284+21671_1284+21688delATATATATATATATATAT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8401038
chr1:8401038 CATATATA
others(13): Show 
CATATATATATATATATATAT
 C
C
 1 a0001c0003t0004g0035
a0001c0003t0004g0035
 1 HG00639.hp2
HG00639.hp2
 intron_variant MODIFIER c.1284+21669_1284+21
others(26): Show 
c.1284+21669_1284+21688delATATATATATATATATATAT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8401038
chr1:8401038 CATATATA
others(15): Show 
CATATATATATATATATATATAT
 C
C
 1 a0001c0004t0027g0106
a0001c0004t0027g0106
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.1284+21667_1284+21
others(28): Show 
c.1284+21667_1284+21688delATATATATATATATATATATAT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8401038
chr1:8401039 A
A
 C
C
 13 a0001c0001t0001g0015
a0001c0001t0001g0040
a0001c0001t0001g0043
others(10): Show 
a0001c0001t0001g0015
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0063
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0004t0001g0049
a0001c0007t0004g0047
 13 HG00140.hp2
HG00609.hp2
HG02074.hp2
others(10): Show 
HG00140.hp2
HG00609.hp2
HG02074.hp2
HG02129.hp2
HG02155.hp1
HG02258.hp1
NA18967.hp1
NA19000.hp2
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19070.hp2
NA19085.hp2
 intron_variant MODIFIER c.1284+21688T>G
c.1284+21688T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8401039
chr1:8401041 A
A
 C
C
 1 a0001c0001t0001g0004
a0001c0001t0001g0004
 1 NA19074.hp1
NA19074.hp1
 intron_variant MODIFIER c.1284+21686T>G
c.1284+21686T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8401041
chr1:8401046 T
T
 C
C
 2 a0001c0003t0011g0112
a0001c0004t0040g0199
a0001c0003t0011g0112
a0001c0004t0040g0199
 2 HG02683.hp2
HG02970.hp2
HG02683.hp2
HG02970.hp2
 intron_variant MODIFIER c.1284+21681A>G
c.1284+21681A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8401046
chr1:8401048 T
T
 C
C
 2 a0001c0009t0041g0198
a0007c0020t0039g0197
a0001c0009t0041g0198
a0007c0020t0039g0197
 2 HG02145.hp1
HG06807.hp1
HG02145.hp1
HG06807.hp1
 intron_variant MODIFIER c.1284+21679A>G
c.1284+21679A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8401048
chr1:8401069 A
A
 ATATATAT
others(25): Show 
ATATATATATATATATATATATATATATATATG
 2 a0001c0001t0003g0087
a0001c0007t0001g0008
a0001c0001t0003g0087
a0001c0007t0001g0008
 2 HG03669.hp1
HG03831.hp1
HG03669.hp1
HG03831.hp1
 intron_variant MODIFIER c.1284+21657_1284+21
others(38): Show 
c.1284+21657_1284+21658insCATATATATATATATATATATATA
TATATATA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8401069
chr1:8401069 A
A
 ATATATAT
others(21): Show 
ATATATATATATATATATATATATATATG
 2 a0001c0001t0023g0113
a0002c0006t0024g0081
a0001c0001t0023g0113
a0002c0006t0024g0081
 2 HG00544.hp1
NA19005.hp2
HG00544.hp1
NA19005.hp2
 intron_variant MODIFIER c.1284+21657_1284+21
others(34): Show 
c.1284+21657_1284+21658insCATATATATATATATATATATATA
TATA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8401069
chr1:8401069 A
A
 ATATATAT
others(19): Show 
ATATATATATATATATATATATATATG
 5 a0001c0001t0003g0088
a0001c0001t0016g0054
a0001c0004t0005g0083
others(2): Show 
a0001c0001t0003g0088
a0001c0001t0016g0054
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
 5 HG01433.hp2
HG01496.hp1
HG02293.hp1
others(2): Show 
HG01433.hp2
HG01496.hp1
HG02293.hp1
HG04228.hp2
NA19043.hp1
 intron_variant MODIFIER c.1284+21657_1284+21
others(32): Show 
c.1284+21657_1284+21658insCATATATATATATATATATATATA
TA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8401069
chr1:8401069 A
A
 ATATATAT
others(17): Show 
ATATATATATATATATATATATATG
 2 a0001c0001t0003g0104
a0001c0001t0030g0143
a0001c0001t0003g0104
a0001c0001t0030g0143
 2 HG00609.hp1
HG02155.hp2
HG00609.hp1
HG02155.hp2
 intron_variant MODIFIER c.1284+21657_1284+21
others(30): Show 
c.1284+21657_1284+21658insCATATATATATATATATATATATA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8401069
chr1:8401069 A
A
 ATATATAT
others(15): Show 
ATATATATATATATATATATATG
 2 a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0033
a0001c0001t0001g0037
 2 HG01884.hp2
NA18906.hp1
HG01884.hp2
NA18906.hp1
 intron_variant MODIFIER c.1284+21657_1284+21
others(28): Show 
c.1284+21657_1284+21658insCATATATATATATATATATATA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8401069
chr1:8401069 A
A
 ATATATAT
others(13): Show 
ATATATATATATATATATATG
 5 a0001c0001t0001g0013
a0001c0001t0006g0181
a0002c0006t0003g0089
others(2): Show 
a0001c0001t0001g0013
a0001c0001t0006g0181
a0002c0006t0003g0089
a0002c0006t0003g0094
a0002c0006t0003g0097
 5 HG01192.hp2
HG02132.hp1
HG04115.hp1
others(2): Show 
HG01192.hp2
HG02132.hp1
HG04115.hp1
NA18944.hp2
NA19074.hp2
 intron_variant MODIFIER c.1284+21657_1284+21
others(26): Show 
c.1284+21657_1284+21658insCATATATATATATATATATA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8401069
chr1:8401069 A
A
 ATATATAT
others(11): Show 
ATATATATATATATATATG
 7 a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
others(4): Show 
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0118
a0001c0001t0031g0144
a0008c0017t0003g0101
a0010c0027t0003g0086
 7 HG02523.hp2
HG03688.hp2
NA18985.hp1
others(4): Show 
HG02523.hp2
HG03688.hp2
NA18985.hp1
NA18993.hp2
NA19007.hp2
NA20129.hp1
NA20905.hp2
 intron_variant MODIFIER c.1284+21657_1284+21
others(24): Show 
c.1284+21657_1284+21658insCATATATATATATATATA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8401069
chr1:8401069 A
A
 ATATATAT
others(9): Show 
ATATATATATATATATG
 5 a0001c0001t0003g0103
a0001c0001t0003g0117
a0001c0001t0003g0122
others(2): Show 
a0001c0001t0003g0103
a0001c0001t0003g0117
a0001c0001t0003g0122
a0001c0004t0001g0003
a0001c0007t0003g0099
 5 HG02145.hp2
HG04184.hp2
NA18973.hp2
others(2): Show 
HG02145.hp2
HG04184.hp2
NA18973.hp2
NA19090.hp2
NA20752.hp2
 intron_variant MODIFIER c.1284+21657_1284+21
others(22): Show 
c.1284+21657_1284+21658insCATATATATATATATA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8401069
chr1:8401069 A
A
 ATATATAT
others(13): Show 
ATATATATATATATATGTATG
 1 a0001c0001t0038g0195
a0001c0001t0038g0195
 1 HG01515.hp1
HG01515.hp1
 intron_variant MODIFIER c.1284+21657_1284+21
others(26): Show 
c.1284+21657_1284+21658insCATACATATATATATATATA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8401069
chr1:8401069 A
A
 ATATATAT
others(7): Show 
ATATATATATATATG
 3 a0001c0001t0003g0115
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0001t0003g0115
a0001c0007t0003g0084
a0001c0007t0003g0098
 3 HG00597.hp1
NA18983.hp1
NA19000.hp1
HG00597.hp1
NA18983.hp1
NA19000.hp1
 intron_variant MODIFIER c.1284+21657_1284+21
others(20): Show 
c.1284+21657_1284+21658insCATATATATATATA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8401069
chr1:8401069 A
A
 ATATATAT
others(11): Show 
ATATATATATATATGTATG
 1 a0002c0006t0003g0090
a0002c0006t0003g0090
 1 HG02165.hp1
HG02165.hp1
 intron_variant MODIFIER c.1284+21657_1284+21
others(24): Show 
c.1284+21657_1284+21658insCATACATATATATATATA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8401069
chr1:8401069 A
A
 ATATATAT
others(3): Show 
ATATATATATG
 2 a0001c0001t0003g0141
a0001c0004t0005g0123
a0001c0001t0003g0141
a0001c0004t0005g0123
 2 HG02602.hp2
HG02683.hp1
HG02602.hp2
HG02683.hp1
 intron_variant MODIFIER c.1284+21657_1284+21
others(16): Show 
c.1284+21657_1284+21658insCATATATATA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8401069
chr1:8401069 A
A
 ATG
ATG
 9 a0001c0001t0001g0046
a0001c0001t0001g0073
a0001c0001t0001g0074
others(6): Show 
a0001c0001t0001g0046
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0003g0093
a0001c0004t0005g0079
a0001c0018t0001g0005
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
 9 HG02165.hp2
HG02647.hp1
HG02735.hp2
others(6): Show 
HG02165.hp2
HG02647.hp1
HG02735.hp2
HG02976.hp1
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03688.hp1
NA18964.hp1
 intron_variant MODIFIER c.1284+21657_1284+21
others(8): Show 
c.1284+21657_1284+21658insCA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8401069
chr1:8401069 A
A
 G
G
 42 a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0038
others(39): Show 
a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0007t0004g0044
a0001c0007t0004g0047
a0002c0006t0003g0139
a0009c0021t0003g0135
 42 HG00140.hp2
HG00280.hp1
HG00597.hp2
others(39): Show 
HG00140.hp2
HG00280.hp1
HG00597.hp2
HG00609.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01517.hp2
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02258.hp1
HG02486.hp2
HG02523.hp1
HG02698.hp2
HG03225.hp2
HG03491.hp2
HG03831.hp2
HG04199.hp2
NA18944.hp1
NA18964.hp2
NA18967.hp1
NA18983.hp2
NA18985.hp2
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.1284+21658T>C
c.1284+21658T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8401069
chr1:8401118 A
A
 G
G
 1 a0001c0002t0002g0174
a0001c0002t0002g0174
 1 NA18946.hp2
NA18946.hp2
 intron_variant MODIFIER c.1284+21609T>C
c.1284+21609T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8401118
chr1:8401269 A
A
 C
C
 1 a0001c0005t0034g0156
a0001c0005t0034g0156
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.1284+21458T>G
c.1284+21458T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8401269
chr1:8401270 G
G
 GT
GT
 68 a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
others(65): Show 
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0033g0186
a0001c0002t0035g0160
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0014t0002g0191
a0001c0022t0008g0082
a0001c0023t0002g0175
a0001c0024t0002g0182
a0006c0025t0007g0025
 68 HG00280.hp2
HG00639.hp1
HG00741.hp1
others(65): Show 
HG00280.hp2
HG00639.hp1
HG00741.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01255.hp2
HG01261.hp2
HG01358.hp1
HG01361.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01934.hp2
HG01981.hp2
HG02004.hp1
HG02027.hp2
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02257.hp2
HG02280.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02622.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG02965.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp2
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03669.hp2
HG04184.hp1
HG04199.hp1
HG04228.hp1
NA18906.hp2
NA18939.hp2
NA18946.hp2
NA18967.hp2
NA19070.hp1
NA19085.hp1
NA20752.hp1
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.1284+21456dupA
c.1284+21456dupA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8401270
chr1:8401287 T
T
 C
C
 7 a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
others(4): Show 
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0006c0025t0007g0025
 7 HG02280.hp1
HG02451.hp2
HG02647.hp2
others(4): Show 
HG02280.hp1
HG02451.hp2
HG02647.hp2
HG02723.hp2
HG02809.hp2
HG02965.hp1
HG03540.hp2
 intron_variant MODIFIER c.1284+21440A>G
c.1284+21440A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8401287
chr1:8401469 C
C
 A
A
 1 a0001c0001t0001g0038
a0001c0001t0001g0038
 1 HG02523.hp1
HG02523.hp1
 intron_variant MODIFIER c.1284+21258G>T
c.1284+21258G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8401469
chr1:8401655 G
G
 A
A
 9 a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
others(6): Show 
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0018g0002
a0001c0002t0028g0133
 9 HG01884.hp1
HG02109.hp2
HG02559.hp1
others(6): Show 
HG01884.hp1
HG02109.hp2
HG02559.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03225.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.1284+21072C>T
c.1284+21072C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8401655
chr1:8401693 G
G
 A
A
 1 a0001c0002t0002g0167
a0001c0002t0002g0167
 1 HG02735.hp1
HG02735.hp1
 intron_variant MODIFIER c.1284+21034C>T
c.1284+21034C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8401693
chr1:8401940 A
A
 G
G
 60 a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
others(57): Show 
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0033g0186
a0001c0002t0035g0160
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0014t0002g0191
a0001c0022t0008g0082
a0001c0023t0002g0175
a0001c0024t0002g0182
 60 HG00280.hp2
HG00639.hp1
HG00741.hp1
others(57): Show 
HG00280.hp2
HG00639.hp1
HG00741.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01255.hp2
HG01261.hp2
HG01358.hp1
HG01361.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01934.hp2
HG01981.hp2
HG02004.hp1
HG02027.hp2
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02257.hp2
HG02293.hp2
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02622.hp1
HG02735.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp2
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03654.hp1
HG03669.hp2
HG04184.hp1
HG04199.hp1
HG04228.hp1
NA18906.hp2
NA18939.hp2
NA18946.hp2
NA18967.hp2
NA19070.hp1
NA19085.hp1
NA20752.hp1
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.1284+20787T>C
c.1284+20787T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8401940
chr1:8402019 C
C
 T
T
 42 a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
others(39): Show 
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0033g0186
a0001c0002t0035g0160
a0001c0014t0002g0191
a0001c0022t0008g0082
a0001c0023t0002g0175
a0001c0024t0002g0182
 42 HG00280.hp2
HG00639.hp1
HG00741.hp1
others(39): Show 
HG00280.hp2
HG00639.hp1
HG00741.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01255.hp2
HG01261.hp2
HG01358.hp1
HG01361.hp1
HG01515.hp2
HG01517.hp1
HG01934.hp2
HG01981.hp2
HG02004.hp1
HG02027.hp2
HG02080.hp2
HG02129.hp1
HG02132.hp2
HG02293.hp2
HG02451.hp1
HG02486.hp1
HG02559.hp2
HG02602.hp1
HG02735.hp1
HG02896.hp2
HG03209.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03654.hp1
HG03669.hp2
HG04184.hp1
HG04199.hp1
HG04228.hp1
NA18939.hp2
NA18946.hp2
NA18967.hp2
NA19070.hp1
NA19085.hp1
NA20752.hp1
NA20905.hp1
 intron_variant MODIFIER c.1284+20708G>A
c.1284+20708G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8402019
chr1:8402020 G
G
 A
A
 1 a0001c0004t0027g0106
a0001c0004t0027g0106
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.1284+20707C>T
c.1284+20707C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8402020
chr1:8402095 T
T
 C
C
 1 a0001c0015t0001g0009
a0001c0015t0001g0009
 1 HG02896.hp1
HG02896.hp1
 intron_variant MODIFIER c.1284+20632A>G
c.1284+20632A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8402095
chr1:8402169 C
C
 A
A
 1 a0001c0002t0005g0110
a0001c0002t0005g0110
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.1284+20558G>T
c.1284+20558G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8402169
chr1:8402169 C
C
 T
T
 2 a0005c0013t0021g0023
a0005c0013t0029g0111
a0005c0013t0021g0023
a0005c0013t0029g0111
 2 HG03041.hp1
HG03471.hp1
HG03041.hp1
HG03471.hp1
 intron_variant MODIFIER c.1284+20558G>A
c.1284+20558G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8402169
chr1:8402170 G
G
 A
A
 1 a0010c0027t0003g0086
a0010c0027t0003g0086
 1 NA18985.hp1
NA18985.hp1
 intron_variant MODIFIER c.1284+20557C>T
c.1284+20557C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8402170
chr1:8402189 T
T
 C
C
 1 a0001c0004t0010g0120
a0001c0004t0010g0120
 1 HG01167.hp1
HG01167.hp1
 intron_variant MODIFIER c.1284+20538A>G
c.1284+20538A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8402189
chr1:8402352 A
A
 G
G
 3 a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
 3 HG02145.hp1
HG02970.hp2
HG06807.hp1
HG02145.hp1
HG02970.hp2
HG06807.hp1
 intron_variant MODIFIER c.1284+20375T>C
c.1284+20375T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8402352
chr1:8402510 T
T
 C
C
 1 a0001c0002t0005g0110
a0001c0002t0005g0110
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.1284+20217A>G
c.1284+20217A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8402510
chr1:8402515 C
C
 T
T
 2 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0002t0002g0157
a0001c0002t0032g0155
 2 HG03130.hp1
HG03579.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.1284+20212G>A
c.1284+20212G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8402515
chr1:8402560 T
T
 C
C
 1 a0001c0004t0006g0146
a0001c0004t0006g0146
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.1284+20167A>G
c.1284+20167A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8402560
chr1:8402905 T
T
 C
C
 1 a0001c0001t0001g0052
a0001c0001t0001g0052
 1 NA18983.hp2
NA18983.hp2
 intron_variant MODIFIER c.1284+19822A>G
c.1284+19822A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8402905
chr1:8402906 C
C
 T
T
 1 a0001c0001t0001g0067
a0001c0001t0001g0067
 1 HG03831.hp2
HG03831.hp2
 intron_variant MODIFIER c.1284+19821G>A
c.1284+19821G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8402906
chr1:8402989 C
C
 T
T
 1 a0001c0001t0030g0143
a0001c0001t0030g0143
 1 HG02155.hp2
HG02155.hp2
 intron_variant MODIFIER c.1284+19738G>A
c.1284+19738G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8402989
chr1:8403116 T
T
 C
C
 173 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(170): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0157
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0002t0033g0186
a0001c0002t0035g0160
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0014t0002g0191
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0001c0023t0002g0175
a0001c0024t0002g0182
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 173 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(170): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00741.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp2
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp2
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19043.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1284+19611A>G
c.1284+19611A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8403116
chr1:8403397 T
T
 C
C
 1 a0001c0002t0002g0192
a0001c0002t0002g0192
 1 HG01175.hp1
HG01175.hp1
 intron_variant MODIFIER c.1284+19330A>G
c.1284+19330A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8403397
chr1:8403433 CT
CT
 C
C
 171 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(168): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0157
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0002t0033g0186
a0001c0002t0035g0160
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0014t0002g0191
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0001c0023t0002g0175
a0001c0024t0002g0182
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 171 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(168): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00741.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp2
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp2
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19043.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.1284+19293delA
c.1284+19293delA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8403433
chr1:8403450 C
C
 T
T
 40 a0001c0001t0001g0013
a0001c0001t0001g0033
a0001c0001t0001g0037
others(37): Show 
a0001c0001t0001g0013
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0141
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0008c0017t0003g0101
a0010c0027t0003g0086
 40 HG00544.hp1
HG00597.hp1
HG00609.hp1
others(37): Show 
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG01192.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG02132.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02602.hp2
HG02683.hp1
HG02735.hp2
HG03669.hp1
HG03688.hp2
HG03831.hp1
HG04115.hp1
HG04228.hp2
NA18906.hp1
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.1284+19277G>A
c.1284+19277G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8403450
chr1:8403476 C
C
 CT
CT
 2 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0002t0002g0157
a0001c0002t0032g0155
 2 HG03130.hp1
HG03579.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.1284+19250dupA
c.1284+19250dupA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8403476
chr1:8403628 A
A
 G
G
 1 a0001c0001t0030g0143
a0001c0001t0030g0143
 1 HG02155.hp2
HG02155.hp2
 intron_variant MODIFIER c.1284+19099T>C
c.1284+19099T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8403628
chr1:8403825 C
C
 CTTTTTT
CTTTTTT
 60 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(57): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0070
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0003g0088
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0025g0080
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0008c0017t0003g0101
a0010c0027t0003g0086
 60 HG00140.hp2
HG00280.hp1
HG00544.hp1
others(57): Show 
HG00140.hp2
HG00280.hp1
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG01192.hp2
HG01261.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02132.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02258.hp1
HG02293.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp2
HG02683.hp1
HG02735.hp2
HG03491.hp2
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04184.hp2
HG04228.hp2
NA18906.hp1
NA18944.hp2
NA18964.hp2
NA18967.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.1284+18896_1284+18
others(12): Show 
c.1284+18896_1284+18901dupAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8403825
chr1:8403825 C
C
 CTTTTTTT
CTTTTTTT
 17 a0001c0001t0001g0046
a0001c0001t0001g0055
a0001c0001t0001g0056
others(14): Show 
a0001c0001t0001g0046
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0069
a0001c0001t0001g0076
a0001c0001t0003g0087
a0001c0001t0003g0093
a0001c0001t0003g0103
a0001c0001t0006g0170
a0001c0001t0036g0194
a0001c0004t0027g0106
a0001c0007t0004g0047
a0001c0018t0001g0005
a0002c0006t0003g0139
a0002c0006t0024g0081
a0009c0021t0003g0135
 17 HG01167.hp2
HG01169.hp2
HG01175.hp2
others(14): Show 
HG01167.hp2
HG01169.hp2
HG01175.hp2
HG01361.hp2
HG02165.hp2
HG02698.hp2
HG02886.hp2
HG03669.hp1
HG03688.hp1
HG04199.hp2
NA18964.hp1
NA18985.hp2
NA19000.hp2
NA19005.hp2
NA19070.hp2
NA19090.hp1
NA19090.hp2
 intron_variant MODIFIER c.1284+18895_1284+18
others(13): Show 
c.1284+18895_1284+18901dupAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8403825
chr1:8403825 C
C
 CTTTTTTT
others(3): Show 
CTTTTTTTTTT
 2 a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0006
a0003c0008t0001g0031
 2 HG02970.hp1
HG03139.hp2
HG02970.hp1
HG03139.hp2
 intron_variant MODIFIER c.1284+18892_1284+18
others(16): Show 
c.1284+18892_1284+18901dupAAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8403825
chr1:8403825 C
C
 CTTTTTTT
others(6): Show 
CTTTTTTTTTTTTT
 1 a0001c0001t0001g0073
a0001c0001t0001g0073
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.1284+18889_1284+18
others(19): Show 
c.1284+18889_1284+18901dupAAAAAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8403825
chr1:8403825 C
C
 CTTTTTTT
others(7): Show 
CTTTTTTTTTTTTTT
 1 a0001c0002t0005g0110
a0001c0002t0005g0110
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.1284+18888_1284+18
others(20): Show 
c.1284+18888_1284+18901dupAAAAAAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8403825
chr1:8403825 C
C
 CTTTTTTT
others(12): Show 
CTTTTTTTTTTTTTTTTTTT
 1 a0001c0002t0002g0157
a0001c0002t0002g0157
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.1284+18883_1284+18
others(25): Show 
c.1284+18883_1284+18901dupAAAAAAAAAAAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8403825
chr1:8403825 C
C
 CTTTTTTT
others(18): Show 
CTTTTTTTTTTTTTTTTTTTTTTTTT
 1 a0001c0010t0007g0034
a0001c0010t0007g0034
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.1284+18901_1284+18
others(31): Show 
c.1284+18901_1284+18902insAAAAAAAAAAAAAAAAAAAAAAAA
A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8403825
chr1:8403825 C
C
 CTTTTTTT
others(25): Show 
CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
 1 a0006c0025t0007g0025
a0006c0025t0007g0025
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.1284+18901_1284+18
others(38): Show 
c.1284+18901_1284+18902insAAAAAAAAAAAAAAAAAAAAAAAA
AAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8403825
chr1:8403825 C
C
 CTTTTTTT
others(27): Show 
CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
 2 a0001c0010t0007g0026
a0001c0010t0013g0024
a0001c0010t0007g0026
a0001c0010t0013g0024
 2 HG02647.hp2
HG03540.hp2
HG02647.hp2
HG03540.hp2
 intron_variant MODIFIER c.1284+18901_1284+18
others(40): Show 
c.1284+18901_1284+18902insAAAAAAAAAAAAAAAAAAAAAAAA
AAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8403825
chr1:8403825 CTT
CTT
 C
C
 6 a0001c0004t0003g0109
a0001c0004t0040g0199
a0001c0009t0041g0198
others(3): Show 
a0001c0004t0003g0109
a0001c0004t0040g0199
a0001c0009t0041g0198
a0005c0013t0021g0023
a0005c0013t0029g0111
a0007c0020t0039g0197
 6 HG02145.hp1
HG02970.hp2
HG03041.hp1
others(3): Show 
HG02145.hp1
HG02970.hp2
HG03041.hp1
HG03471.hp1
HG06807.hp1
NA21309.hp2
 intron_variant MODIFIER c.1284+18900_1284+18
others(8): Show 
c.1284+18900_1284+18901delAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8403825
chr1:8403825 CTTTTTTT
CTTTTTTT
 C
C
 60 a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
others(57): Show 
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0033g0186
a0001c0002t0035g0160
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0014t0002g0191
a0001c0022t0008g0082
a0001c0023t0002g0175
a0001c0024t0002g0182
 60 HG00280.hp2
HG00639.hp1
HG00741.hp1
others(57): Show 
HG00280.hp2
HG00639.hp1
HG00741.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01255.hp2
HG01261.hp2
HG01358.hp1
HG01361.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01934.hp2
HG01981.hp2
HG02004.hp1
HG02027.hp2
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02257.hp2
HG02293.hp2
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02622.hp1
HG02735.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp2
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03654.hp1
HG03669.hp2
HG04184.hp1
HG04199.hp1
HG04228.hp1
NA18906.hp2
NA18939.hp2
NA18946.hp2
NA18967.hp2
NA19070.hp1
NA19085.hp1
NA20752.hp1
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.1284+18895_1284+18
others(13): Show 
c.1284+18895_1284+18901delAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8403825
chr1:8404135 T
T
 A
A
 2 a0001c0005t0009g0200
a0001c0005t0009g0204
a0001c0005t0009g0200
a0001c0005t0009g0204
 2 HG02818.hp1
HG03516.hp1
HG02818.hp1
HG03516.hp1
 intron_variant MODIFIER c.1284+18592A>T
c.1284+18592A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8404135
chr1:8404136 A
A
 T
T
 1 a0001c0004t0027g0106
a0001c0004t0027g0106
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.1284+18591T>A
c.1284+18591T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8404136
chr1:8404197 A
A
 T
T
 4 a0001c0004t0003g0109
a0001c0004t0040g0199
a0001c0009t0041g0198
others(1): Show 
a0001c0004t0003g0109
a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
 4 HG02145.hp1
HG02970.hp2
HG06807.hp1
others(1): Show 
HG02145.hp1
HG02970.hp2
HG06807.hp1
NA21309.hp2
 intron_variant MODIFIER c.1284+18530T>A
c.1284+18530T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8404197
chr1:8404244 C
C
 T
T
 1 a0001c0001t0006g0184
a0001c0001t0006g0184
 1 NA18944.hp1
NA18944.hp1
 intron_variant MODIFIER c.1284+18483G>A
c.1284+18483G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8404244
chr1:8404313 G
G
 C
C
 1 a0001c0002t0002g0173
a0001c0002t0002g0173
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.1284+18414C>G
c.1284+18414C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8404313
chr1:8404449 T
T
 C
C
 173 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(170): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0157
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0002t0033g0186
a0001c0002t0035g0160
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0014t0002g0191
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0001c0023t0002g0175
a0001c0024t0002g0182
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 173 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(170): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00741.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp2
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp2
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19043.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1284+18278A>G
c.1284+18278A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8404449
chr1:8404542 G
G
 A
A
 1 a0001c0002t0002g0164
a0001c0002t0002g0164
 1 HG02129.hp1
HG02129.hp1
 intron_variant MODIFIER c.1284+18185C>T
c.1284+18185C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8404542
chr1:8404697 G
G
 C
C
 1 a0001c0004t0027g0106
a0001c0004t0027g0106
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.1284+18030C>G
c.1284+18030C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8404697
chr1:8405184 T
T
 C
C
 1 a0001c0003t0011g0112
a0001c0003t0011g0112
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.1284+17543A>G
c.1284+17543A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8405184
chr1:8405922 A
A
 C
C
 1 a0001c0001t0003g0088
a0001c0001t0003g0088
 1 HG01496.hp1
HG01496.hp1
 intron_variant MODIFIER c.1284+16805T>G
c.1284+16805T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8405922
chr1:8406157 G
G
 A
A
 40 a0001c0001t0001g0013
a0001c0001t0001g0033
a0001c0001t0001g0037
others(37): Show 
a0001c0001t0001g0013
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0141
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0008c0017t0003g0101
a0010c0027t0003g0086
 40 HG00544.hp1
HG00597.hp1
HG00609.hp1
others(37): Show 
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG01192.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG02132.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02602.hp2
HG02683.hp1
HG02735.hp2
HG03669.hp1
HG03688.hp2
HG03831.hp1
HG04115.hp1
HG04228.hp2
NA18906.hp1
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.1284+16570C>T
c.1284+16570C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8406157
chr1:8406271 C
C
 T
T
 1 a0001c0007t0004g0044
a0001c0007t0004g0044
 1 NA18964.hp2
NA18964.hp2
 intron_variant MODIFIER c.1284+16456G>A
c.1284+16456G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8406271
chr1:8406377 A
A
 G
G
 1 a0001c0004t0010g0142
a0001c0004t0010g0142
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.1284+16350T>C
c.1284+16350T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8406377
chr1:8406489 G
G
 T
T
 1 a0001c0004t0014g0126
a0001c0004t0014g0126
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.1284+16238C>A
c.1284+16238C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8406489
chr1:8406604 C
C
 A
A
 1 a0001c0003t0008g0085
a0001c0003t0008g0085
 1 HG01934.hp1
HG01934.hp1
 intron_variant MODIFIER c.1284+16123G>T
c.1284+16123G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8406604
chr1:8406614 G
G
 T
T
 1 a0001c0002t0002g0161
a0001c0002t0002g0161
 1 HG02027.hp2
HG02027.hp2
 intron_variant MODIFIER c.1284+16113C>A
c.1284+16113C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8406614
chr1:8406670 T
T
 C
C
 30 a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
others(27): Show 
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0015t0001g0009
a0001c0016t0020g0001
a0002c0026t0008g0140
a0004c0012t0008g0137
a0004c0012t0008g0138
 30 HG00140.hp1
HG00544.hp2
HG00639.hp2
others(27): Show 
HG00140.hp1
HG00544.hp2
HG00639.hp2
HG00741.hp2
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG01358.hp2
HG01934.hp1
HG01981.hp1
HG02074.hp1
HG02258.hp2
HG02280.hp2
HG02622.hp2
HG02683.hp2
HG02698.hp1
HG02896.hp1
HG02976.hp2
HG03195.hp1
HG03654.hp2
HG04115.hp2
HG06807.hp2
NA18939.hp1
NA18946.hp1
NA18973.hp1
NA18993.hp1
NA19009.hp2
NA19043.hp2
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1284+16057A>G
c.1284+16057A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8406670
chr1:8406685 G
G
 A
A
 90 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(87): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0018t0001g0005
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 90 HG00140.hp2
HG00280.hp1
HG00544.hp1
others(87): Show 
HG00140.hp2
HG00280.hp1
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02293.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp2
HG02735.hp2
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03491.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04184.hp2
HG04199.hp2
HG04228.hp2
NA18906.hp1
NA18944.hp1
NA18944.hp2
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19043.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.1284+16042C>T
c.1284+16042C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8406685
chr1:8406690 C
C
 T
T
 40 a0001c0001t0001g0013
a0001c0001t0001g0033
a0001c0001t0001g0037
others(37): Show 
a0001c0001t0001g0013
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0141
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0008c0017t0003g0101
a0010c0027t0003g0086
 40 HG00544.hp1
HG00597.hp1
HG00609.hp1
others(37): Show 
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG01192.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG02132.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02602.hp2
HG02683.hp1
HG02735.hp2
HG03669.hp1
HG03688.hp2
HG03831.hp1
HG04115.hp1
HG04228.hp2
NA18906.hp1
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.1284+16037G>A
c.1284+16037G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8406690
chr1:8406807 T
T
 TA
TA
 143 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(140): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 143 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(140): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01934.hp1
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp2
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03491.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1284+15919dupT
c.1284+15919dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8406807
chr1:8406895 A
A
 G
G
 1 a0001c0003t0012g0022
a0001c0003t0012g0022
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.1284+15832T>C
c.1284+15832T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8406895
chr1:8407040 T
T
 C
C
 1 a0001c0002t0002g0187
a0001c0002t0002g0187
 1 HG04228.hp1
HG04228.hp1
 intron_variant MODIFIER c.1284+15687A>G
c.1284+15687A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8407040
chr1:8407149 G
G
 T
T
 1 a0001c0003t0012g0022
a0001c0003t0012g0022
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.1284+15578C>A
c.1284+15578C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8407149
chr1:8407293 G
G
 A
A
 30 a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
others(27): Show 
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0015t0001g0009
a0001c0016t0020g0001
a0002c0026t0008g0140
a0004c0012t0008g0137
a0004c0012t0008g0138
 30 HG00140.hp1
HG00544.hp2
HG00639.hp2
others(27): Show 
HG00140.hp1
HG00544.hp2
HG00639.hp2
HG00741.hp2
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG01358.hp2
HG01934.hp1
HG01981.hp1
HG02074.hp1
HG02258.hp2
HG02280.hp2
HG02622.hp2
HG02683.hp2
HG02698.hp1
HG02896.hp1
HG02976.hp2
HG03195.hp1
HG03654.hp2
HG04115.hp2
HG06807.hp2
NA18939.hp1
NA18946.hp1
NA18973.hp1
NA18993.hp1
NA19009.hp2
NA19043.hp2
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1284+15434C>T
c.1284+15434C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8407293
chr1:8407322 A
A
 C
C
 1 a0001c0003t0011g0108
a0001c0003t0011g0108
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.1284+15405T>G
c.1284+15405T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8407322
chr1:8407457 G
G
 T
T
 203 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(200): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0157
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0002t0033g0186
a0001c0002t0035g0160
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0014t0002g0191
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0001c0023t0002g0175
a0001c0024t0002g0182
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 203 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(200): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp1
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1284+15270C>A
c.1284+15270C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8407457
chr1:8407474 T
T
 C
C
 135 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(132): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 135 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(132): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01934.hp1
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02293.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02735.hp2
HG02886.hp2
HG02896.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03491.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1284+15253A>G
c.1284+15253A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8407474
chr1:8407545 G
G
 GA
GA
 7 a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
others(4): Show 
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
 7 HG02109.hp1
HG02257.hp2
HG02818.hp1
others(4): Show 
HG02109.hp1
HG02257.hp2
HG02818.hp1
HG03130.hp2
HG03209.hp1
HG03516.hp1
NA21309.hp1
 intron_variant MODIFIER c.1284+15181dupT
c.1284+15181dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8407545
chr1:8407568 G
G
 C
C
 4 a0001c0004t0003g0109
a0001c0004t0040g0199
a0001c0009t0041g0198
others(1): Show 
a0001c0004t0003g0109
a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
 4 HG02145.hp1
HG02970.hp2
HG06807.hp1
others(1): Show 
HG02145.hp1
HG02970.hp2
HG06807.hp1
NA21309.hp2
 intron_variant MODIFIER c.1284+15159C>G
c.1284+15159C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8407568
chr1:8407959 G
G
 A
A
 2 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0002t0002g0157
a0001c0002t0032g0155
 2 HG03130.hp1
HG03579.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.1284+14768C>T
c.1284+14768C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8407959
chr1:8408218 A
A
 G
G
 31 a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
others(28): Show 
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0027g0106
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0015t0001g0009
a0001c0016t0020g0001
a0002c0026t0008g0140
a0004c0012t0008g0137
a0004c0012t0008g0138
 31 HG00140.hp1
HG00544.hp2
HG00639.hp2
others(28): Show 
HG00140.hp1
HG00544.hp2
HG00639.hp2
HG00741.hp2
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG01358.hp2
HG01934.hp1
HG01981.hp1
HG02074.hp1
HG02258.hp2
HG02280.hp2
HG02622.hp2
HG02683.hp2
HG02698.hp1
HG02886.hp2
HG02896.hp1
HG02976.hp2
HG03195.hp1
HG03654.hp2
HG04115.hp2
HG06807.hp2
NA18939.hp1
NA18946.hp1
NA18973.hp1
NA18993.hp1
NA19009.hp2
NA19043.hp2
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1284+14509T>C
c.1284+14509T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8408218
chr1:8408281 T
T
 C
C
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.1284+14446A>G
c.1284+14446A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8408281
chr1:8408312 A
A
 T
T
 30 a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
others(27): Show 
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0015t0001g0009
a0001c0016t0020g0001
a0002c0026t0008g0140
a0004c0012t0008g0137
a0004c0012t0008g0138
 30 HG00140.hp1
HG00544.hp2
HG00639.hp2
others(27): Show 
HG00140.hp1
HG00544.hp2
HG00639.hp2
HG00741.hp2
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG01358.hp2
HG01934.hp1
HG01981.hp1
HG02074.hp1
HG02258.hp2
HG02280.hp2
HG02622.hp2
HG02683.hp2
HG02698.hp1
HG02896.hp1
HG02976.hp2
HG03195.hp1
HG03654.hp2
HG04115.hp2
HG06807.hp2
NA18939.hp1
NA18946.hp1
NA18973.hp1
NA18993.hp1
NA19009.hp2
NA19043.hp2
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1284+14415T>A
c.1284+14415T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8408312
chr1:8408389 G
G
 C
C
 3 a0001c0002t0002g0152
a0001c0002t0002g0162
a0001c0002t0002g0179
a0001c0002t0002g0152
a0001c0002t0002g0162
a0001c0002t0002g0179
 3 HG02559.hp2
HG03516.hp2
HG03540.hp1
HG02559.hp2
HG03516.hp2
HG03540.hp1
 intron_variant MODIFIER c.1284+14338C>G
c.1284+14338C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8408389
chr1:8408822 C
C
 T
T
 7 a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
others(4): Show 
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0006c0025t0007g0025
 7 HG02280.hp1
HG02451.hp2
HG02647.hp2
others(4): Show 
HG02280.hp1
HG02451.hp2
HG02647.hp2
HG02723.hp2
HG02809.hp2
HG02965.hp1
HG03540.hp2
 intron_variant MODIFIER c.1284+13905G>A
c.1284+13905G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8408822
chr1:8408853 G
G
 A
A
 1 a0001c0002t0002g0163
a0001c0002t0002g0163
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.1284+13874C>T
c.1284+13874C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8408853
chr1:8408893 C
C
 T
T
 1 a0001c0004t0022g0121
a0001c0004t0022g0121
 1 HG02257.hp1
HG02257.hp1
 intron_variant MODIFIER c.1284+13834G>A
c.1284+13834G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8408893
chr1:8408908 T
T
 C
C
 1 a0001c0001t0001g0061
a0001c0001t0001g0061
 1 NA20300.hp1
NA20300.hp1
 intron_variant MODIFIER c.1284+13819A>G
c.1284+13819A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8408908
chr1:8408951 T
T
 C
C
 1 a0001c0002t0002g0180
a0001c0002t0002g0180
 1 HG02080.hp2
HG02080.hp2
 intron_variant MODIFIER c.1284+13776A>G
c.1284+13776A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8408951
chr1:8409061 A
A
 C
C
 1 a0001c0004t0003g0109
a0001c0004t0003g0109
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.1284+13666T>G
c.1284+13666T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8409061
chr1:8409119 G
G
 A
A
 9 a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
others(6): Show 
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0018g0002
a0001c0002t0028g0133
 9 HG01884.hp1
HG02109.hp2
HG02559.hp1
others(6): Show 
HG01884.hp1
HG02109.hp2
HG02559.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03225.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.1284+13608C>T
c.1284+13608C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8409119
chr1:8409220 G
G
 A
A
 1 a0001c0003t0011g0096
a0001c0003t0011g0096
 1 HG02074.hp1
HG02074.hp1
 intron_variant MODIFIER c.1284+13507C>T
c.1284+13507C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8409220
chr1:8409224 G
G
 C
C
 31 a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
others(28): Show 
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0027g0106
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0015t0001g0009
a0001c0016t0020g0001
a0002c0026t0008g0140
a0004c0012t0008g0137
a0004c0012t0008g0138
 31 HG00140.hp1
HG00544.hp2
HG00639.hp2
others(28): Show 
HG00140.hp1
HG00544.hp2
HG00639.hp2
HG00741.hp2
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG01358.hp2
HG01934.hp1
HG01981.hp1
HG02074.hp1
HG02258.hp2
HG02280.hp2
HG02622.hp2
HG02683.hp2
HG02698.hp1
HG02886.hp2
HG02896.hp1
HG02976.hp2
HG03195.hp1
HG03654.hp2
HG04115.hp2
HG06807.hp2
NA18939.hp1
NA18946.hp1
NA18973.hp1
NA18993.hp1
NA19009.hp2
NA19043.hp2
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1284+13503C>G
c.1284+13503C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8409224
chr1:8409277 A
A
 G
G
 30 a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
others(27): Show 
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0015t0001g0009
a0001c0016t0020g0001
a0002c0026t0008g0140
a0004c0012t0008g0137
a0004c0012t0008g0138
 30 HG00140.hp1
HG00544.hp2
HG00639.hp2
others(27): Show 
HG00140.hp1
HG00544.hp2
HG00639.hp2
HG00741.hp2
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG01358.hp2
HG01934.hp1
HG01981.hp1
HG02074.hp1
HG02258.hp2
HG02280.hp2
HG02622.hp2
HG02683.hp2
HG02698.hp1
HG02896.hp1
HG02976.hp2
HG03195.hp1
HG03654.hp2
HG04115.hp2
HG06807.hp2
NA18939.hp1
NA18946.hp1
NA18973.hp1
NA18993.hp1
NA19009.hp2
NA19043.hp2
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1284+13450T>C
c.1284+13450T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8409277
chr1:8409729 C
C
 T
T
 40 a0001c0001t0001g0013
a0001c0001t0001g0033
a0001c0001t0001g0037
others(37): Show 
a0001c0001t0001g0013
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0141
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0008c0017t0003g0101
a0010c0027t0003g0086
 40 HG00544.hp1
HG00597.hp1
HG00609.hp1
others(37): Show 
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG01192.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG02132.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02602.hp2
HG02683.hp1
HG02735.hp2
HG03669.hp1
HG03688.hp2
HG03831.hp1
HG04115.hp1
HG04228.hp2
NA18906.hp1
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.1284+12998G>A
c.1284+12998G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8409729
chr1:8409969 C
C
 T
T
 2 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0002t0002g0157
a0001c0002t0032g0155
 2 HG03130.hp1
HG03579.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.1284+12758G>A
c.1284+12758G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8409969
chr1:8409971 A
A
 AT
AT
 47 a0001c0001t0001g0013
a0001c0001t0001g0037
a0001c0001t0001g0055
others(44): Show 
a0001c0001t0001g0013
a0001c0001t0001g0037
a0001c0001t0001g0055
a0001c0001t0001g0074
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0141
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0002g0168
a0001c0002t0002g0192
a0001c0002t0033g0186
a0001c0004t0003g0092
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0007t0003g0084
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0003c0008t0001g0072
a0008c0017t0003g0101
a0010c0027t0003g0086
 47 HG00544.hp1
HG00597.hp1
HG00609.hp1
others(44): Show 
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00741.hp1
HG01175.hp1
HG01192.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG02109.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02293.hp1
HG02486.hp1
HG02523.hp2
HG02602.hp2
HG02647.hp1
HG02683.hp1
HG02735.hp2
HG02976.hp1
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03669.hp1
HG04115.hp1
HG04199.hp2
HG04228.hp2
NA18906.hp1
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.1284+12755dupA
c.1284+12755dupA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8409971
chr1:8409971 A
A
 ATT
ATT
 11 a0001c0001t0001g0033
a0001c0001t0003g0102
a0001c0001t0003g0122
others(8): Show 
a0001c0001t0001g0033
a0001c0001t0003g0102
a0001c0001t0003g0122
a0001c0002t0032g0155
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0204
a0001c0005t0034g0156
a0001c0007t0003g0098
a0005c0013t0021g0023
a0005c0013t0029g0111
 11 HG01884.hp2
HG02145.hp2
HG02257.hp2
others(8): Show 
HG01884.hp2
HG02145.hp2
HG02257.hp2
HG02622.hp1
HG02818.hp1
HG03041.hp1
HG03471.hp1
HG03516.hp1
HG03579.hp1
HG03688.hp2
NA19000.hp1
 intron_variant MODIFIER c.1284+12754_1284+12
others(8): Show 
c.1284+12754_1284+12755dupAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8409971
chr1:8409971 AT
AT
 A
A
 89 a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0038
others(86): Show 
a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0036g0194
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0193
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0035g0160
a0001c0003t0004g0035
a0001c0003t0004g0068
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0014g0126
a0001c0004t0027g0106
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0018t0001g0005
a0001c0023t0002g0175
a0002c0006t0003g0139
a0006c0025t0007g0025
a0009c0021t0003g0135
 89 HG00140.hp2
HG00280.hp1
HG00597.hp2
others(86): Show 
HG00140.hp2
HG00280.hp1
HG00597.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG01167.hp1
HG01167.hp2
HG01169.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01361.hp2
HG01496.hp2
HG01515.hp2
HG01884.hp1
HG01934.hp2
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp2
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02647.hp2
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02965.hp1
HG02965.hp2
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03491.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03669.hp2
HG03688.hp1
HG04184.hp1
HG04184.hp2
NA18906.hp2
NA18939.hp2
NA18946.hp2
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18983.hp2
NA18985.hp2
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19085.hp1
NA19085.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
 intron_variant MODIFIER c.1284+12755delA
c.1284+12755delA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8409971
chr1:8409971 ATT
ATT
 A
A
 30 a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0003t0004g0007
others(27): Show 
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0015t0001g0009
a0001c0016t0020g0001
a0002c0026t0008g0140
a0004c0012t0008g0137
a0004c0012t0008g0138
 30 HG00140.hp1
HG00544.hp2
HG00741.hp2
others(27): Show 
HG00140.hp1
HG00544.hp2
HG00741.hp2
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG01358.hp2
HG01517.hp1
HG01934.hp1
HG01981.hp1
HG02074.hp1
HG02280.hp2
HG02622.hp2
HG02683.hp2
HG02698.hp1
HG02896.hp1
HG02976.hp2
HG03195.hp1
HG03654.hp2
HG04115.hp2
HG04199.hp1
HG06807.hp2
NA18939.hp1
NA18946.hp1
NA18973.hp1
NA18993.hp1
NA19009.hp2
NA19043.hp2
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1284+12754_1284+12
others(8): Show 
c.1284+12754_1284+12755delAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8409971
chr1:8410495 C
C
 A
A
 2 a0001c0004t0014g0126
a0001c0019t0014g0119
a0001c0004t0014g0126
a0001c0019t0014g0119
 2 HG02965.hp2
HG03195.hp2
HG02965.hp2
HG03195.hp2
 intron_variant MODIFIER c.1284+12232G>T
c.1284+12232G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8410495
chr1:8411022 G
G
 T
T
 2 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0002t0002g0157
a0001c0002t0032g0155
 2 HG03130.hp1
HG03579.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.1284+11705C>A
c.1284+11705C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8411022
chr1:8411259 C
C
 T
T
 1 a0001c0002t0005g0110
a0001c0002t0005g0110
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.1284+11468G>A
c.1284+11468G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8411259
chr1:8411272 T
T
 G
G
 2 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0002t0002g0157
a0001c0002t0032g0155
 2 HG03130.hp1
HG03579.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.1284+11455A>C
c.1284+11455A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8411272
chr1:8411317 C
C
 CT
CT
 41 a0001c0001t0001g0055
a0001c0002t0002g0169
a0001c0002t0005g0110
others(38): Show 
a0001c0001t0001g0055
a0001c0002t0002g0169
a0001c0002t0005g0110
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0014g0126
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0011t0007g0028
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0019t0014g0119
a0002c0026t0008g0140
a0004c0012t0008g0137
a0004c0012t0008g0138
 41 HG00140.hp1
HG00544.hp2
HG00639.hp2
others(38): Show 
HG00140.hp1
HG00544.hp2
HG00639.hp2
HG00741.hp2
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG01358.hp2
HG01433.hp2
HG01934.hp1
HG01981.hp1
HG02074.hp1
HG02132.hp2
HG02258.hp2
HG02280.hp2
HG02451.hp2
HG02602.hp2
HG02622.hp2
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02735.hp2
HG02886.hp2
HG02896.hp1
HG02965.hp2
HG02976.hp2
HG03195.hp1
HG03195.hp2
HG03654.hp2
HG04115.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp2
NA18939.hp1
NA18946.hp1
NA18973.hp1
NA18993.hp1
NA19009.hp2
NA19043.hp2
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1284+11409dupA
c.1284+11409dupA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8411317
chr1:8411317 C
C
 CTT
CTT
 7 a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
others(4): Show 
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0029
a0001c0022t0008g0082
a0006c0025t0007g0025
 7 HG00280.hp2
HG02280.hp1
HG02647.hp2
others(4): Show 
HG00280.hp2
HG02280.hp1
HG02647.hp2
HG02723.hp2
HG02809.hp2
HG02965.hp1
HG03540.hp2
 intron_variant MODIFIER c.1284+11408_1284+11
others(8): Show 
c.1284+11408_1284+11409dupAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8411317
chr1:8411317 CT
CT
 C
C
 5 a0001c0001t0003g0124
a0001c0001t0023g0113
a0002c0006t0003g0094
others(2): Show 
a0001c0001t0003g0124
a0001c0001t0023g0113
a0002c0006t0003g0094
a0005c0013t0021g0023
a0005c0013t0029g0111
 5 HG00544.hp1
HG03041.hp1
HG03471.hp1
others(2): Show 
HG00544.hp1
HG03041.hp1
HG03471.hp1
HG03491.hp2
NA19074.hp2
 intron_variant MODIFIER c.1284+11409delA
c.1284+11409delA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8411317
chr1:8411657 G
G
 A
A
 1 a0001c0004t0003g0092
a0001c0004t0003g0092
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.1284+11070C>T
c.1284+11070C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8411657
chr1:8411809 C
C
 T
T
 2 a0001c0005t0009g0200
a0001c0005t0009g0204
a0001c0005t0009g0200
a0001c0005t0009g0204
 2 HG02818.hp1
HG03516.hp1
HG02818.hp1
HG03516.hp1
 intron_variant MODIFIER c.1284+10918G>A
c.1284+10918G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8411809
chr1:8411933 G
G
 A
A
 3 a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
 3 HG01168.hp2
HG01255.hp1
HG02145.hp1
HG01168.hp2
HG01255.hp1
HG02145.hp1
 intron_variant MODIFIER c.1284+10794C>T
c.1284+10794C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8411933
chr1:8411948 C
C
 G
G
 1 a0001c0001t0003g0124
a0001c0001t0003g0124
 1 HG03491.hp2
HG03491.hp2
 intron_variant MODIFIER c.1284+10779G>C
c.1284+10779G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8411948
chr1:8412027 G
G
 T
T
 4 a0001c0004t0003g0109
a0001c0004t0040g0199
a0001c0009t0041g0198
others(1): Show 
a0001c0004t0003g0109
a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
 4 HG02145.hp1
HG02970.hp2
HG06807.hp1
others(1): Show 
HG02145.hp1
HG02970.hp2
HG06807.hp1
NA21309.hp2
 intron_variant MODIFIER c.1284+10700C>A
c.1284+10700C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8412027
chr1:8412104 C
C
 T
T
 135 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(132): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 135 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(132): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01934.hp1
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02293.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02735.hp2
HG02886.hp2
HG02896.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03491.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1284+10623G>A
c.1284+10623G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8412104
chr1:8412122 C
C
 T
T
 1 a0001c0001t0001g0077
a0001c0001t0001g0077
 1 NA19007.hp1
NA19007.hp1
 intron_variant MODIFIER c.1284+10605G>A
c.1284+10605G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8412122
chr1:8412128 T
T
 G
G
 1 a0001c0004t0027g0106
a0001c0004t0027g0106
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.1284+10599A>C
c.1284+10599A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8412128
chr1:8412212 G
G
 A
A
 1 a0001c0001t0001g0075
a0001c0001t0001g0075
 1 NA18967.hp1
NA18967.hp1
 intron_variant MODIFIER c.1284+10515C>T
c.1284+10515C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8412212
chr1:8412695 G
G
 A
A
 7 a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
others(4): Show 
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0006c0025t0007g0025
 7 HG02280.hp1
HG02451.hp2
HG02647.hp2
others(4): Show 
HG02280.hp1
HG02451.hp2
HG02647.hp2
HG02723.hp2
HG02809.hp2
HG02965.hp1
HG03540.hp2
 intron_variant MODIFIER c.1284+10032C>T
c.1284+10032C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8412695
chr1:8412934 T
T
 A
A
 1 a0001c0002t0002g0167
a0001c0002t0002g0167
 1 HG02735.hp1
HG02735.hp1
 intron_variant MODIFIER c.1284+9793A>T
c.1284+9793A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8412934
chr1:8413023 C
C
 T
T
 1 a0001c0001t0001g0060
a0001c0001t0001g0060
 1 HG02486.hp2
HG02486.hp2
 intron_variant MODIFIER c.1284+9704G>A
c.1284+9704G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8413023
chr1:8413068 A
A
 T
T
 2 a0005c0013t0021g0023
a0005c0013t0029g0111
a0005c0013t0021g0023
a0005c0013t0029g0111
 2 HG03041.hp1
HG03471.hp1
HG03041.hp1
HG03471.hp1
 intron_variant MODIFIER c.1284+9659T>A
c.1284+9659T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8413068
chr1:8413271 G
G
 A
A
 37 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0003t0004g0007
others(34): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0003g0109
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0015t0001g0009
a0001c0016t0020g0001
a0002c0026t0008g0140
a0004c0012t0008g0137
a0004c0012t0008g0138
a0007c0020t0039g0197
 37 HG00140.hp1
HG00544.hp2
HG00639.hp2
others(34): Show 
HG00140.hp1
HG00544.hp2
HG00639.hp2
HG00741.hp2
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG01358.hp2
HG01934.hp1
HG01981.hp1
HG02074.hp1
HG02145.hp1
HG02258.hp2
HG02280.hp2
HG02622.hp2
HG02683.hp2
HG02698.hp1
HG02886.hp2
HG02896.hp1
HG02970.hp2
HG02976.hp2
HG03130.hp1
HG03195.hp1
HG03579.hp1
HG03654.hp2
HG04115.hp2
HG06807.hp1
HG06807.hp2
NA18939.hp1
NA18946.hp1
NA18973.hp1
NA18993.hp1
NA19009.hp2
NA19043.hp2
NA20129.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1284+9456C>T
c.1284+9456C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8413271
chr1:8413276 G
G
 A
A
 37 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0003t0004g0007
others(34): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0003g0109
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0015t0001g0009
a0001c0016t0020g0001
a0002c0026t0008g0140
a0004c0012t0008g0137
a0004c0012t0008g0138
a0007c0020t0039g0197
 37 HG00140.hp1
HG00544.hp2
HG00639.hp2
others(34): Show 
HG00140.hp1
HG00544.hp2
HG00639.hp2
HG00741.hp2
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG01358.hp2
HG01934.hp1
HG01981.hp1
HG02074.hp1
HG02145.hp1
HG02258.hp2
HG02280.hp2
HG02622.hp2
HG02683.hp2
HG02698.hp1
HG02886.hp2
HG02896.hp1
HG02970.hp2
HG02976.hp2
HG03130.hp1
HG03195.hp1
HG03579.hp1
HG03654.hp2
HG04115.hp2
HG06807.hp1
HG06807.hp2
NA18939.hp1
NA18946.hp1
NA18973.hp1
NA18993.hp1
NA19009.hp2
NA19043.hp2
NA20129.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1284+9451C>T
c.1284+9451C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8413276
chr1:8413753 C
C
 T
T
 43 a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0038
others(40): Show 
a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0018t0001g0005
a0002c0006t0003g0139
a0009c0021t0003g0135
 43 HG00140.hp2
HG00280.hp1
HG00597.hp2
others(40): Show 
HG00140.hp2
HG00280.hp1
HG00597.hp2
HG00609.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02486.hp2
HG02523.hp1
HG02698.hp2
HG03139.hp1
HG03491.hp2
HG03688.hp1
HG03831.hp2
HG04184.hp2
HG04199.hp2
NA18944.hp1
NA18964.hp2
NA18967.hp1
NA18983.hp2
NA18985.hp2
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp2
 intron_variant MODIFIER c.1284+8974G>A
c.1284+8974G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8413753
chr1:8413846 G
G
 A
A
 1 a0001c0003t0012g0018
a0001c0003t0012g0018
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.1284+8881C>T
c.1284+8881C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8413846
chr1:8413925 C
C
 T
T
 105 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(102): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0152
a0001c0002t0002g0162
a0001c0002t0002g0179
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0040g0199
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0041g0198
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0005c0013t0021g0023
a0005c0013t0029g0111
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 105 HG00140.hp2
HG00280.hp1
HG00544.hp1
others(102): Show 
HG00140.hp2
HG00280.hp1
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG01167.hp1
HG01167.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02293.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02602.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp2
HG02735.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03491.hp2
HG03516.hp2
HG03540.hp1
HG03579.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
NA18906.hp1
NA18944.hp1
NA18944.hp2
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19043.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.1284+8802G>A
c.1284+8802G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8413925
chr1:8414055 C
C
 CA
CA
 5 a0001c0002t0002g0174
a0001c0002t0002g0183
a0001c0002t0005g0110
others(2): Show 
a0001c0002t0002g0174
a0001c0002t0002g0183
a0001c0002t0005g0110
a0001c0005t0034g0156
a0001c0010t0007g0034
 5 HG01934.hp2
HG02622.hp1
HG02723.hp1
others(2): Show 
HG01934.hp2
HG02622.hp1
HG02723.hp1
HG02965.hp1
NA18946.hp2
 intron_variant MODIFIER c.1284+8671dupT
c.1284+8671dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8414055
chr1:8414055 C
C
 CAA
CAA
 14 a0001c0001t0003g0100
a0001c0001t0003g0103
a0001c0002t0002g0157
others(11): Show 
a0001c0001t0003g0100
a0001c0001t0003g0103
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0003g0109
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0022g0121
a0001c0004t0040g0199
a0001c0009t0041g0198
a0005c0013t0021g0023
a0005c0013t0029g0111
a0007c0020t0039g0197
 14 HG01167.hp1
HG02145.hp1
HG02257.hp1
others(11): Show 
HG01167.hp1
HG02145.hp1
HG02257.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03453.hp2
HG03471.hp1
HG03579.hp1
HG03579.hp2
HG06807.hp1
NA19007.hp2
NA19090.hp2
NA21309.hp2
 intron_variant MODIFIER c.1284+8670_1284+867
others(6): Show 
c.1284+8670_1284+8671dupTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8414055
chr1:8414055 C
C
 CAAA
CAAA
 83 a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0037
others(80): Show 
a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0018t0001g0005
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 83 HG00140.hp2
HG00280.hp1
HG00544.hp1
others(80): Show 
HG00140.hp2
HG00280.hp1
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02293.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp2
HG02647.hp1
HG02698.hp2
HG02735.hp2
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03491.hp2
HG03669.hp1
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04184.hp2
HG04199.hp2
HG04228.hp2
NA18906.hp1
NA18944.hp1
NA18944.hp2
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19043.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.1284+8669_1284+867
others(7): Show 
c.1284+8669_1284+8671dupTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8414055
chr1:8414055 C
C
 CAAAA
CAAAA
 8 a0001c0001t0001g0013
a0001c0001t0001g0033
a0001c0001t0001g0077
others(5): Show 
a0001c0001t0001g0013
a0001c0001t0001g0033
a0001c0001t0001g0077
a0001c0001t0003g0102
a0001c0001t0003g0141
a0001c0002t0002g0152
a0001c0002t0002g0162
a0001c0002t0002g0179
 8 HG01192.hp2
HG01884.hp2
HG02559.hp2
others(5): Show 
HG01192.hp2
HG01884.hp2
HG02559.hp2
HG02683.hp1
HG03516.hp2
HG03540.hp1
HG03688.hp2
NA19007.hp1
 intron_variant MODIFIER c.1284+8668_1284+867
others(8): Show 
c.1284+8668_1284+8671dupTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8414055
chr1:8414055 CA
CA
 C
C
 11 a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0012
others(8): Show 
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0019
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0078
a0001c0003t0015g0147
 11 HG00544.hp2
HG00639.hp2
HG01358.hp2
others(8): Show 
HG00544.hp2
HG00639.hp2
HG01358.hp2
HG02280.hp2
HG02698.hp1
HG03654.hp2
NA18939.hp1
NA18973.hp1
NA18993.hp1
NA19009.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1284+8671delT
c.1284+8671delT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8414055
chr1:8414272 C
C
 T
T
 1 a0001c0001t0001g0039
a0001c0001t0001g0039
 1 HG02004.hp2
HG02004.hp2
 intron_variant MODIFIER c.1284+8455G>A
c.1284+8455G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8414272
chr1:8414334 C
C
 A
A
 1 a0001c0004t0027g0106
a0001c0004t0027g0106
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.1284+8393G>T
c.1284+8393G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8414334
chr1:8414375 TCTCTACT
others(4): Show 
TCTCTACTAAAA
 T
T
 4 a0001c0004t0003g0109
a0001c0004t0040g0199
a0001c0009t0041g0198
others(1): Show 
a0001c0004t0003g0109
a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
 4 HG02145.hp1
HG02970.hp2
HG06807.hp1
others(1): Show 
HG02145.hp1
HG02970.hp2
HG06807.hp1
NA21309.hp2
 intron_variant MODIFIER c.1284+8341_1284+835
others(15): Show 
c.1284+8341_1284+8351delTTTTAGTAGAG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8414375
chr1:8414462 A
A
 T
T
 3 a0001c0010t0007g0026
a0001c0010t0013g0024
a0006c0025t0007g0025
a0001c0010t0007g0026
a0001c0010t0013g0024
a0006c0025t0007g0025
 3 HG02647.hp2
HG02809.hp2
HG03540.hp2
HG02647.hp2
HG02809.hp2
HG03540.hp2
 intron_variant MODIFIER c.1284+8265T>A
c.1284+8265T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8414462
chr1:8414466 G
G
 C
C
 1 a0001c0004t0014g0126
a0001c0004t0014g0126
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.1284+8261C>G
c.1284+8261C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8414466
chr1:8414480 C
C
 T
T
 1 a0001c0004t0014g0126
a0001c0004t0014g0126
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.1284+8247G>A
c.1284+8247G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8414480
chr1:8414877 G
G
 C
C
 1 a0001c0007t0003g0098
a0001c0007t0003g0098
 1 NA19000.hp1
NA19000.hp1
 intron_variant MODIFIER c.1284+7850C>G
c.1284+7850C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8414877
chr1:8414990 G
G
 C
C
 5 a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0036g0194
others(2): Show 
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0036g0194
a0001c0007t0004g0044
a0001c0007t0004g0047
 5 HG02155.hp1
NA18964.hp2
NA18985.hp2
others(2): Show 
HG02155.hp1
NA18964.hp2
NA18985.hp2
NA19002.hp1
NA19070.hp2
 intron_variant MODIFIER c.1284+7737C>G
c.1284+7737C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8414990
chr1:8414993 T
T
 G
G
 5 a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0036g0194
others(2): Show 
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0036g0194
a0001c0007t0004g0044
a0001c0007t0004g0047
 5 HG02155.hp1
NA18964.hp2
NA18985.hp2
others(2): Show 
HG02155.hp1
NA18964.hp2
NA18985.hp2
NA19002.hp1
NA19070.hp2
 intron_variant MODIFIER c.1284+7734A>C
c.1284+7734A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8414993
chr1:8415080 C
C
 G
G
 1 a0001c0003t0004g0014
a0001c0003t0004g0014
 1 HG01358.hp2
HG01358.hp2
 intron_variant MODIFIER c.1284+7647G>C
c.1284+7647G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8415080
chr1:8415093 T
T
 G
G
 2 a0001c0003t0012g0018
a0001c0004t0027g0106
a0001c0003t0012g0018
a0001c0004t0027g0106
 2 HG02622.hp2
HG02886.hp2
HG02622.hp2
HG02886.hp2
 intron_variant MODIFIER c.1284+7634A>C
c.1284+7634A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8415093
chr1:8415325 T
T
 G
G
 1 a0001c0004t0001g0003
a0001c0004t0001g0003
 1 HG04184.hp2
HG04184.hp2
 intron_variant MODIFIER c.1284+7402A>C
c.1284+7402A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8415325
chr1:8415506 A
A
 T
T
 2 a0005c0013t0021g0023
a0005c0013t0029g0111
a0005c0013t0021g0023
a0005c0013t0029g0111
 2 HG03041.hp1
HG03471.hp1
HG03041.hp1
HG03471.hp1
 intron_variant MODIFIER c.1284+7221T>A
c.1284+7221T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8415506
chr1:8415651 C
C
 CA
CA
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0022g0121
 6 HG01167.hp1
HG02257.hp1
HG03130.hp1
others(3): Show 
HG01167.hp1
HG02257.hp1
HG03130.hp1
HG03453.hp2
HG03579.hp1
HG03579.hp2
 intron_variant MODIFIER c.1284+7075dupT
c.1284+7075dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8415651
chr1:8415796 T
T
 C
C
 2 a0001c0001t0001g0038
a0001c0001t0001g0052
a0001c0001t0001g0038
a0001c0001t0001g0052
 2 HG02523.hp1
NA18983.hp2
HG02523.hp1
NA18983.hp2
 intron_variant MODIFIER c.1284+6931A>G
c.1284+6931A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8415796
chr1:8415995 C
C
 T
T
 4 a0001c0004t0003g0109
a0001c0004t0040g0199
a0001c0009t0041g0198
others(1): Show 
a0001c0004t0003g0109
a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
 4 HG02145.hp1
HG02970.hp2
HG06807.hp1
others(1): Show 
HG02145.hp1
HG02970.hp2
HG06807.hp1
NA21309.hp2
 intron_variant MODIFIER c.1284+6732G>A
c.1284+6732G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8415995
chr1:8416129 A
A
 G
G
 4 a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
others(1): Show 
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0022g0121
 4 HG01167.hp1
HG02257.hp1
HG03453.hp2
others(1): Show 
HG01167.hp1
HG02257.hp1
HG03453.hp2
HG03579.hp2
 intron_variant MODIFIER c.1284+6598T>C
c.1284+6598T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8416129
chr1:8416311 C
C
 T
T
 7 a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
others(4): Show 
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0006c0025t0007g0025
 7 HG02280.hp1
HG02451.hp2
HG02647.hp2
others(4): Show 
HG02280.hp1
HG02451.hp2
HG02647.hp2
HG02723.hp2
HG02809.hp2
HG02965.hp1
HG03540.hp2
 intron_variant MODIFIER c.1284+6416G>A
c.1284+6416G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8416311
chr1:8416313 C
C
 T
T
 9 a0001c0002t0002g0177
a0001c0002t0005g0128
a0001c0002t0005g0129
others(6): Show 
a0001c0002t0002g0177
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
 9 HG01884.hp1
HG02109.hp2
HG02809.hp1
others(6): Show 
HG01884.hp1
HG02109.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03209.hp2
HG03225.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.1284+6414G>A
c.1284+6414G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8416313
chr1:8416324 A
A
 G
G
 16 a0001c0002t0005g0110
a0001c0002t0005g0128
a0001c0002t0005g0129
others(13): Show 
a0001c0002t0005g0110
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0006c0025t0007g0025
 16 HG01884.hp1
HG02109.hp2
HG02280.hp1
others(13): Show 
HG01884.hp1
HG02109.hp2
HG02280.hp1
HG02451.hp2
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02965.hp1
HG03225.hp1
HG03471.hp2
HG03540.hp2
NA18906.hp2
 intron_variant MODIFIER c.1284+6403T>C
c.1284+6403T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8416324
chr1:8416347 A
A
 G
G
 1 a0001c0003t0011g0096
a0001c0003t0011g0096
 1 HG02074.hp1
HG02074.hp1
 intron_variant MODIFIER c.1284+6380T>C
c.1284+6380T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8416347
chr1:8416351 C
C
 T
T
 8 a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
others(5): Show 
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
 8 HG01884.hp1
HG02109.hp2
HG02809.hp1
others(5): Show 
HG01884.hp1
HG02109.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03225.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.1284+6376G>A
c.1284+6376G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8416351
chr1:8416352 A
A
 G
G
 8 a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
others(5): Show 
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
 8 HG01884.hp1
HG02109.hp2
HG02809.hp1
others(5): Show 
HG01884.hp1
HG02109.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03225.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.1284+6375T>C
c.1284+6375T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8416352
chr1:8416356 C
C
 T
T
 12 a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
others(9): Show 
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0022g0121
 12 HG01167.hp1
HG01884.hp1
HG02109.hp2
others(9): Show 
HG01167.hp1
HG01884.hp1
HG02109.hp2
HG02257.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03225.hp1
HG03453.hp2
HG03471.hp2
HG03579.hp2
NA18906.hp2
 intron_variant MODIFIER c.1284+6371G>A
c.1284+6371G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8416356
chr1:8416360 C
C
 T
T
 42 a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0038
others(39): Show 
a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0115
a0001c0001t0003g0124
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0018t0001g0005
a0002c0006t0003g0139
 42 HG00140.hp2
HG00280.hp1
HG00597.hp1
others(39): Show 
HG00140.hp2
HG00280.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG01167.hp2
HG01169.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02486.hp2
HG02523.hp1
HG02698.hp2
HG03491.hp2
HG03688.hp1
HG03831.hp2
HG04184.hp2
HG04199.hp2
NA18944.hp1
NA18964.hp2
NA18967.hp1
NA18983.hp2
NA18985.hp2
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp2
 intron_variant MODIFIER c.1284+6367G>A
c.1284+6367G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8416360
chr1:8416368 A
A
 G
G
 68 a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0038
others(65): Show 
a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0115
a0001c0001t0003g0124
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0006g0145
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0006g0146
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0018t0001g0005
a0002c0006t0003g0139
a0002c0026t0008g0140
a0004c0012t0008g0137
a0004c0012t0008g0138
a0009c0021t0003g0135
 68 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(65): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01934.hp1
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02698.hp1
HG02698.hp2
HG02976.hp2
HG03195.hp1
HG03491.hp1
HG03491.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1284+6359T>C
c.1284+6359T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8416368
chr1:8416381 C
C
 G
G
 26 a0001c0002t0006g0145
a0001c0003t0004g0007
a0001c0003t0004g0010
others(23): Show 
a0001c0002t0006g0145
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0006g0146
a0001c0009t0004g0016
a0001c0009t0004g0020
a0002c0006t0003g0089
a0002c0026t0008g0140
a0004c0012t0008g0137
a0004c0012t0008g0138
 26 HG00140.hp1
HG00544.hp2
HG00639.hp2
others(23): Show 
HG00140.hp1
HG00544.hp2
HG00639.hp2
HG00741.hp2
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG01358.hp2
HG01934.hp1
HG01981.hp1
HG02132.hp1
HG02258.hp2
HG02280.hp2
HG02698.hp1
HG02976.hp2
HG03195.hp1
HG03491.hp1
HG03654.hp2
HG04115.hp2
NA18939.hp1
NA18946.hp1
NA18973.hp1
NA18993.hp1
NA19009.hp2
NA19043.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1284+6346G>C
c.1284+6346G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8416381
chr1:8416395 T
T
 C
C
 42 a0001c0001t0001g0013
a0001c0001t0001g0033
a0001c0001t0003g0087
others(39): Show 
a0001c0001t0001g0013
a0001c0001t0001g0033
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0141
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0166
a0001c0002t0002g0174
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0008c0017t0003g0101
a0010c0027t0003g0086
 42 HG00544.hp1
HG00597.hp1
HG00609.hp1
others(39): Show 
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG01192.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG02074.hp1
HG02132.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02602.hp2
HG02683.hp1
HG02735.hp2
HG03669.hp1
HG03688.hp2
HG03831.hp1
HG04115.hp1
HG04228.hp2
NA18944.hp2
NA18946.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19070.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.1284+6332A>G
c.1284+6332A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8416395
chr1:8416396 T
T
 G
G
 1 a0001c0001t0003g0104
a0001c0001t0003g0104
 1 HG00609.hp1
HG00609.hp1
 intron_variant MODIFIER c.1284+6331A>C
c.1284+6331A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8416396
chr1:8416401 T
T
 C
C
 1 a0001c0001t0003g0104
a0001c0001t0003g0104
 1 HG00609.hp1
HG00609.hp1
 intron_variant MODIFIER c.1284+6326A>G
c.1284+6326A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8416401
chr1:8416452 G
G
 A
A
 2 a0001c0001t0003g0100
a0001c0001t0003g0103
a0001c0001t0003g0100
a0001c0001t0003g0103
 2 NA19007.hp2
NA19090.hp2
NA19007.hp2
NA19090.hp2
 intron_variant MODIFIER c.1284+6275C>T
c.1284+6275C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8416452
chr1:8416454 C
C
 T
T
 3 a0001c0001t0003g0100
a0001c0001t0003g0103
a0001c0002t0002g0168
a0001c0001t0003g0100
a0001c0001t0003g0103
a0001c0002t0002g0168
 3 HG00741.hp1
NA19007.hp2
NA19090.hp2
HG00741.hp1
NA19007.hp2
NA19090.hp2
 intron_variant MODIFIER c.1284+6273G>A
c.1284+6273G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8416454
chr1:8416518 G
G
 A
A
 1 a0001c0003t0011g0096
a0001c0003t0011g0096
 1 HG02074.hp1
HG02074.hp1
 intron_variant MODIFIER c.1284+6209C>T
c.1284+6209C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8416518
chr1:8416523 T
T
 C
C
 1 a0001c0002t0002g0169
a0001c0002t0002g0169
 1 HG02132.hp2
HG02132.hp2
 intron_variant MODIFIER c.1284+6204A>G
c.1284+6204A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8416523
chr1:8416565 G
G
 A
A
 2 a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0001t0037g0196
a0001c0001t0038g0195
 2 HG01515.hp1
HG01517.hp2
HG01515.hp1
HG01517.hp2
 intron_variant MODIFIER c.1284+6162C>T
c.1284+6162C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8416565
chr1:8416586 C
C
 CA
CA
 95 a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0037
others(92): Show 
a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0023g0113
a0001c0002t0002g0192
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0024t0002g0182
a0002c0006t0003g0094
a0002c0006t0003g0139
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0009c0021t0003g0135
 95 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(92): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01884.hp1
HG01934.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02486.hp2
HG02559.hp1
HG02622.hp2
HG02647.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp2
HG03491.hp2
HG03516.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1284+6140dupT
c.1284+6140dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8416586
chr1:8416598 A
A
 AAAAAG
AAAAAG
 5 a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0152
others(2): Show 
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0152
a0001c0002t0002g0162
a0001c0002t0002g0179
 5 HG01515.hp1
HG01517.hp2
HG02559.hp2
others(2): Show 
HG01515.hp1
HG01517.hp2
HG02559.hp2
HG03516.hp2
HG03540.hp1
 intron_variant MODIFIER c.1284+6124_1284+612
others(9): Show 
c.1284+6124_1284+6128dupCTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8416598
chr1:8416674 A
A
 G
G
 9 a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
others(6): Show 
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0018g0002
a0001c0002t0028g0133
 9 HG01884.hp1
HG02109.hp2
HG02559.hp1
others(6): Show 
HG01884.hp1
HG02109.hp2
HG02559.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03225.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.1284+6053T>C
c.1284+6053T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8416674
chr1:8416713 T
T
 C
C
 5 a0001c0002t0002g0152
a0001c0002t0002g0162
a0001c0002t0002g0179
others(2): Show 
a0001c0002t0002g0152
a0001c0002t0002g0162
a0001c0002t0002g0179
a0001c0004t0014g0126
a0001c0019t0014g0119
 5 HG02559.hp2
HG02965.hp2
HG03195.hp2
others(2): Show 
HG02559.hp2
HG02965.hp2
HG03195.hp2
HG03516.hp2
HG03540.hp1
 intron_variant MODIFIER c.1284+6014A>G
c.1284+6014A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8416713
chr1:8416770 C
C
 T
T
 1 a0001c0002t0002g0158
a0001c0002t0002g0158
 1 HG03654.hp1
HG03654.hp1
 intron_variant MODIFIER c.1284+5957G>A
c.1284+5957G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8416770
chr1:8416853 G
G
 T
T
 1 a0001c0004t0014g0126
a0001c0004t0014g0126
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.1284+5874C>A
c.1284+5874C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8416853
chr1:8416857 G
G
 A
A
 1 a0001c0004t0027g0106
a0001c0004t0027g0106
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.1284+5870C>T
c.1284+5870C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8416857
chr1:8416946 G
G
 A
A
 50 a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0038
others(47): Show 
a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0018t0001g0005
a0002c0006t0003g0139
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0009c0021t0003g0135
 50 HG00140.hp2
HG00280.hp1
HG00597.hp2
others(47): Show 
HG00140.hp2
HG00280.hp1
HG00597.hp2
HG00609.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02486.hp2
HG02523.hp1
HG02647.hp1
HG02698.hp2
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03491.hp2
HG03688.hp1
HG03831.hp2
HG04184.hp2
HG04199.hp2
NA18944.hp1
NA18964.hp2
NA18967.hp1
NA18983.hp2
NA18985.hp2
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.1284+5781C>T
c.1284+5781C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8416946
chr1:8416966 GGATA
GGATA
 G
G
 4 a0001c0004t0003g0109
a0001c0004t0040g0199
a0001c0009t0041g0198
others(1): Show 
a0001c0004t0003g0109
a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
 4 HG02145.hp1
HG02970.hp2
HG06807.hp1
others(1): Show 
HG02145.hp1
HG02970.hp2
HG06807.hp1
NA21309.hp2
 intron_variant MODIFIER c.1284+5757_1284+576
others(8): Show 
c.1284+5757_1284+5760delTATC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8416966
chr1:8417152 A
A
 T
T
 1 a0001c0002t0002g0167
a0001c0002t0002g0167
 1 HG02735.hp1
HG02735.hp1
 intron_variant MODIFIER c.1284+5575T>A
c.1284+5575T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8417152
chr1:8417198 T
T
 C
C
 8 a0001c0001t0001g0074
a0001c0002t0002g0157
a0001c0002t0032g0155
others(5): Show 
a0001c0001t0001g0074
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
 8 HG02622.hp1
HG02647.hp1
HG02970.hp1
others(5): Show 
HG02622.hp1
HG02647.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp2
HG03579.hp1
 intron_variant MODIFIER c.1284+5529A>G
c.1284+5529A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8417198
chr1:8417299 T
T
 C
C
 2 a0001c0001t0001g0075
a0001c0001t0006g0184
a0001c0001t0001g0075
a0001c0001t0006g0184
 2 NA18944.hp1
NA18967.hp1
NA18944.hp1
NA18967.hp1
 intron_variant MODIFIER c.1284+5428A>G
c.1284+5428A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8417299
chr1:8417384 G
G
 A
A
 4 a0001c0004t0003g0109
a0001c0004t0040g0199
a0001c0009t0041g0198
others(1): Show 
a0001c0004t0003g0109
a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
 4 HG02145.hp1
HG02970.hp2
HG06807.hp1
others(1): Show 
HG02145.hp1
HG02970.hp2
HG06807.hp1
NA21309.hp2
 intron_variant MODIFIER c.1284+5343C>T
c.1284+5343C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8417384
chr1:8417529 T
T
 C
C
 1 a0010c0027t0003g0086
a0010c0027t0003g0086
 1 NA18985.hp1
NA18985.hp1
 intron_variant MODIFIER c.1284+5198A>G
c.1284+5198A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8417529
chr1:8417616 T
T
 C
C
 3 a0001c0002t0002g0165
a0001c0002t0002g0176
a0001c0023t0002g0175
a0001c0002t0002g0165
a0001c0002t0002g0176
a0001c0023t0002g0175
 3 NA18939.hp2
NA18967.hp2
NA19085.hp1
NA18939.hp2
NA18967.hp2
NA19085.hp1
 intron_variant MODIFIER c.1284+5111A>G
c.1284+5111A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8417616
chr1:8417806 C
C
 T
T
 1 a0001c0004t0001g0003
a0001c0004t0001g0003
 1 HG04184.hp2
HG04184.hp2
 intron_variant MODIFIER c.1284+4921G>A
c.1284+4921G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8417806
chr1:8417807 C
C
 T
T
 1 a0007c0020t0039g0197
a0007c0020t0039g0197
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.1284+4920G>A
c.1284+4920G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8417807
chr1:8418026 G
G
 T
T
 4 a0001c0004t0003g0109
a0001c0004t0040g0199
a0001c0009t0041g0198
others(1): Show 
a0001c0004t0003g0109
a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
 4 HG02145.hp1
HG02970.hp2
HG06807.hp1
others(1): Show 
HG02145.hp1
HG02970.hp2
HG06807.hp1
NA21309.hp2
 intron_variant MODIFIER c.1284+4701C>A
c.1284+4701C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8418026
chr1:8418440 T
T
 C
C
 8 a0001c0002t0005g0110
a0001c0010t0007g0026
a0001c0010t0007g0034
others(5): Show 
a0001c0002t0005g0110
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0006c0025t0007g0025
 8 HG02280.hp1
HG02451.hp2
HG02647.hp2
others(5): Show 
HG02280.hp1
HG02451.hp2
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp2
HG02965.hp1
HG03540.hp2
 intron_variant MODIFIER c.1284+4287A>G
c.1284+4287A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8418440
chr1:8418875 T
T
 C
C
 2 a0001c0004t0014g0126
a0001c0004t0027g0106
a0001c0004t0014g0126
a0001c0004t0027g0106
 2 HG02886.hp2
HG02965.hp2
HG02886.hp2
HG02965.hp2
 intron_variant MODIFIER c.1284+3852A>G
c.1284+3852A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8418875
chr1:8418998 C
C
 T
T
 2 a0001c0004t0014g0126
a0001c0004t0027g0106
a0001c0004t0014g0126
a0001c0004t0027g0106
 2 HG02886.hp2
HG02965.hp2
HG02886.hp2
HG02965.hp2
 intron_variant MODIFIER c.1284+3729G>A
c.1284+3729G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8418998
chr1:8419127 T
T
 C
C
 3 a0001c0002t0002g0148
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0148
a0001c0002t0002g0158
a0001c0002t0002g0159
 3 HG03654.hp1
HG04184.hp1
NA20752.hp1
HG03654.hp1
HG04184.hp1
NA20752.hp1
 intron_variant MODIFIER c.1284+3600A>G
c.1284+3600A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8419127
chr1:8419413 C
C
 A
A
 1 a0001c0004t0003g0109
a0001c0004t0003g0109
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.1284+3314G>T
c.1284+3314G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8419413
chr1:8419488 C
C
 T
T
 1 a0001c0001t0001g0073
a0001c0001t0001g0073
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.1284+3239G>A
c.1284+3239G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8419488
chr1:8419747 G
G
 A
A
 1 a0001c0023t0002g0175
a0001c0023t0002g0175
 1 NA18939.hp2
NA18939.hp2
 intron_variant MODIFIER c.1284+2980C>T
c.1284+2980C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8419747
chr1:8419810 G
G
 C
C
 1 a0001c0002t0002g0179
a0001c0002t0002g0179
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.1284+2917C>G
c.1284+2917C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8419810
chr1:8420134 C
C
 T
T
 7 a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
others(4): Show 
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
 7 HG02109.hp1
HG02257.hp2
HG02818.hp1
others(4): Show 
HG02109.hp1
HG02257.hp2
HG02818.hp1
HG03130.hp2
HG03209.hp1
HG03516.hp1
NA21309.hp1
 intron_variant MODIFIER c.1284+2593G>A
c.1284+2593G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8420134
chr1:8420145 G
G
 T
T
 8 a0001c0002t0002g0152
a0001c0002t0002g0162
a0001c0002t0002g0179
others(5): Show 
a0001c0002t0002g0152
a0001c0002t0002g0162
a0001c0002t0002g0179
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0022g0121
a0001c0019t0014g0119
 8 HG01167.hp1
HG02257.hp1
HG02559.hp2
others(5): Show 
HG01167.hp1
HG02257.hp1
HG02559.hp2
HG03195.hp2
HG03453.hp2
HG03516.hp2
HG03540.hp1
HG03579.hp2
 intron_variant MODIFIER c.1284+2582C>A
c.1284+2582C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8420145
chr1:8420274 G
G
 A
A
 4 a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
others(1): Show 
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0022g0121
 4 HG01167.hp1
HG02257.hp1
HG03453.hp2
others(1): Show 
HG01167.hp1
HG02257.hp1
HG03453.hp2
HG03579.hp2
 intron_variant MODIFIER c.1284+2453C>T
c.1284+2453C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8420274
chr1:8420679 C
C
 G
G
 2 a0001c0004t0014g0126
a0001c0004t0027g0106
a0001c0004t0014g0126
a0001c0004t0027g0106
 2 HG02886.hp2
HG02965.hp2
HG02886.hp2
HG02965.hp2
 intron_variant MODIFIER c.1284+2048G>C
c.1284+2048G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8420679
chr1:8420914 A
A
 G
G
 1 a0001c0016t0020g0001
a0001c0016t0020g0001
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.1284+1813T>C
c.1284+1813T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8420914
chr1:8420915 T
T
 C
C
 5 a0001c0002t0002g0149
a0001c0002t0002g0164
a0001c0002t0002g0173
others(2): Show 
a0001c0002t0002g0149
a0001c0002t0002g0164
a0001c0002t0002g0173
a0001c0002t0013g0053
a0001c0002t0035g0160
 5 HG02129.hp1
HG02602.hp1
HG03669.hp2
others(2): Show 
HG02129.hp1
HG02602.hp1
HG03669.hp2
HG04199.hp1
NA20905.hp1
 intron_variant MODIFIER c.1284+1812A>G
c.1284+1812A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8420915
chr1:8420956 T
T
 G
G
 115 a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0037
others(112): Show 
a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0002g0152
a0001c0002t0002g0157
a0001c0002t0002g0162
a0001c0002t0002g0179
a0001c0002t0005g0110
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0009c0021t0003g0135
 115 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(112): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01934.hp1
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02559.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1284+1771A>C
c.1284+1771A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8420956
chr1:8421005 A
A
 G
G
 1 a0001c0002t0002g0183
a0001c0002t0002g0183
 1 HG01934.hp2
HG01934.hp2
 intron_variant MODIFIER c.1284+1722T>C
c.1284+1722T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8421005
chr1:8421023 G
G
 C
C
 1 a0001c0002t0002g0190
a0001c0002t0002g0190
 1 HG01255.hp2
HG01255.hp2
 intron_variant MODIFIER c.1284+1704C>G
c.1284+1704C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8421023
chr1:8421182 G
G
 A
A
 1 a0001c0002t0005g0125
a0001c0002t0005g0125
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.1284+1545C>T
c.1284+1545C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8421182
chr1:8421266 C
C
 T
T
 1 a0001c0005t0034g0156
a0001c0005t0034g0156
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.1284+1461G>A
c.1284+1461G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8421266
chr1:8421414 T
T
 C
C
 2 a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0171
a0001c0002t0002g0172
 2 HG01515.hp2
HG01517.hp1
HG01515.hp2
HG01517.hp1
 intron_variant MODIFIER c.1284+1313A>G
c.1284+1313A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8421414
chr1:8421503 A
A
 G
G
 1 a0006c0025t0007g0025
a0006c0025t0007g0025
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.1284+1224T>C
c.1284+1224T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8421503
chr1:8421540 T
T
 C
C
 1 a0001c0001t0006g0170
a0001c0001t0006g0170
 1 HG02698.hp2
HG02698.hp2
 intron_variant MODIFIER c.1284+1187A>G
c.1284+1187A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8421540
chr1:8421582 T
T
 C
C
 1 a0001c0001t0003g0124
a0001c0001t0003g0124
 1 HG03491.hp2
HG03491.hp2
 intron_variant MODIFIER c.1284+1145A>G
c.1284+1145A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8421582
chr1:8421642 A
A
 G
G
 2 a0005c0013t0021g0023
a0005c0013t0029g0111
a0005c0013t0021g0023
a0005c0013t0029g0111
 2 HG03041.hp1
HG03471.hp1
HG03041.hp1
HG03471.hp1
 intron_variant MODIFIER c.1284+1085T>C
c.1284+1085T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8421642
chr1:8421972 T
T
 C
C
 50 a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0038
others(47): Show 
a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0018t0001g0005
a0002c0006t0003g0139
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0009c0021t0003g0135
 50 HG00140.hp2
HG00280.hp1
HG00597.hp2
others(47): Show 
HG00140.hp2
HG00280.hp1
HG00597.hp2
HG00609.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02486.hp2
HG02523.hp1
HG02647.hp1
HG02698.hp2
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03491.hp2
HG03688.hp1
HG03831.hp2
HG04184.hp2
HG04199.hp2
NA18944.hp1
NA18964.hp2
NA18967.hp1
NA18983.hp2
NA18985.hp2
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.1284+755A>G
c.1284+755A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8421972
chr1:8422018 C
C
 T
T
 104 a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0037
others(101): Show 
a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0007c0020t0039g0197
a0009c0021t0003g0135
 104 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(101): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01934.hp1
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1284+709G>A
c.1284+709G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8422018
chr1:8422065 T
T
 A
A
 3 a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
 3 HG02145.hp1
HG02970.hp2
HG06807.hp1
HG02145.hp1
HG02970.hp2
HG06807.hp1
 intron_variant MODIFIER c.1284+662A>T
c.1284+662A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8422065
chr1:8422110 G
G
 A
A
 1 a0001c0002t0006g0145
a0001c0002t0006g0145
 1 HG03491.hp1
HG03491.hp1
 intron_variant MODIFIER c.1284+617C>T
c.1284+617C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8422110
chr1:8422237 T
T
 C
C
 4 a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0014
others(1): Show 
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0014
a0001c0003t0004g0036
 4 HG01358.hp2
HG02698.hp1
HG03654.hp2
others(1): Show 
HG01358.hp2
HG02698.hp1
HG03654.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1284+490A>G
c.1284+490A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8422237
chr1:8422251 G
G
 A
A
 1 a0001c0001t0003g0122
a0001c0001t0003g0122
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.1284+476C>T
c.1284+476C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 12/22 chr1 8422251
chr1:8423048 G
G
 C
C
 1 a0001c0004t0027g0106
a0001c0004t0027g0106
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.1204-241C>G
c.1204-241C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8423048
chr1:8423219 A
A
 C
C
 2 a0005c0013t0021g0023
a0005c0013t0029g0111
a0005c0013t0021g0023
a0005c0013t0029g0111
 2 HG03041.hp1
HG03471.hp1
HG03041.hp1
HG03471.hp1
 intron_variant MODIFIER c.1204-412T>G
c.1204-412T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8423219
chr1:8423528 C
C
 T
T
 1 a0001c0002t0002g0152
a0001c0002t0002g0152
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.1204-721G>A
c.1204-721G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8423528
chr1:8423703 G
G
 T
T
 9 a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
others(6): Show 
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0018g0002
a0001c0002t0028g0133
 9 HG01884.hp1
HG02109.hp2
HG02559.hp1
others(6): Show 
HG01884.hp1
HG02109.hp2
HG02559.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03225.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.1204-896C>A
c.1204-896C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8423703
chr1:8423819 C
C
 T
T
 1 a0001c0001t0003g0124
a0001c0001t0003g0124
 1 HG03491.hp2
HG03491.hp2
 intron_variant MODIFIER c.1204-1012G>A
c.1204-1012G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8423819
chr1:8423857 G
G
 A
A
 3 a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0025g0080
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0025g0080
 3 HG01433.hp2
HG02735.hp2
HG04228.hp2
HG01433.hp2
HG02735.hp2
HG04228.hp2
 intron_variant MODIFIER c.1204-1050C>T
c.1204-1050C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8423857
chr1:8423884 G
G
 GCCCCGGC
others(12): Show 
GCCCCGGCCCCGCCCCCCGC
 1 a0001c0003t0011g0108
a0001c0003t0011g0108
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.1204-1078_1204-107
others(23): Show 
c.1204-1078_1204-1077insGCGGGGGGCGGGGCCGGGG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8423884
chr1:8423918 G
G
 A
A
 4 a0001c0004t0003g0109
a0001c0004t0040g0199
a0001c0009t0041g0198
others(1): Show 
a0001c0004t0003g0109
a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
 4 HG02145.hp1
HG02970.hp2
HG06807.hp1
others(1): Show 
HG02145.hp1
HG02970.hp2
HG06807.hp1
NA21309.hp2
 intron_variant MODIFIER c.1204-1111C>T
c.1204-1111C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8423918
chr1:8424035 G
G
 A
A
 1 a0001c0004t0027g0106
a0001c0004t0027g0106
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.1204-1228C>T
c.1204-1228C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8424035
chr1:8424054 C
C
 T
T
 1 a0001c0002t0002g0173
a0001c0002t0002g0173
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.1204-1247G>A
c.1204-1247G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8424054
chr1:8424084 C
C
 T
T
 1 a0001c0003t0017g0032
a0001c0003t0017g0032
 1 HG04115.hp2
HG04115.hp2
 intron_variant MODIFIER c.1204-1277G>A
c.1204-1277G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8424084
chr1:8424136 A
A
 C
C
 4 a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
others(1): Show 
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0022g0121
 4 HG01167.hp1
HG02257.hp1
HG03453.hp2
others(1): Show 
HG01167.hp1
HG02257.hp1
HG03453.hp2
HG03579.hp2
 intron_variant MODIFIER c.1204-1329T>G
c.1204-1329T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8424136
chr1:8424168 C
C
 T
T
 38 a0001c0001t0001g0037
a0001c0003t0004g0007
a0001c0003t0004g0010
others(35): Show 
a0001c0001t0001g0037
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0015t0001g0009
a0001c0016t0020g0001
a0002c0026t0008g0140
a0004c0012t0008g0137
a0004c0012t0008g0138
 38 HG00140.hp1
HG00544.hp2
HG00639.hp2
others(35): Show 
HG00140.hp1
HG00544.hp2
HG00639.hp2
HG00741.hp2
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG01358.hp2
HG01934.hp1
HG01981.hp1
HG02074.hp1
HG02109.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp2
HG02622.hp2
HG02683.hp2
HG02698.hp1
HG02818.hp1
HG02896.hp1
HG02976.hp2
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03516.hp1
HG03654.hp2
HG04115.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18946.hp1
NA18973.hp1
NA18993.hp1
NA19009.hp2
NA19043.hp2
NA20129.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1204-1361G>A
c.1204-1361G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8424168
chr1:8424469 A
A
 G
G
 12 a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
others(9): Show 
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0019
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0078
a0001c0003t0015g0147
 12 HG00544.hp2
HG00639.hp2
HG01358.hp2
others(9): Show 
HG00544.hp2
HG00639.hp2
HG01358.hp2
HG02280.hp2
HG02698.hp1
HG03654.hp2
NA18939.hp1
NA18946.hp1
NA18973.hp1
NA18993.hp1
NA19009.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1204-1662T>C
c.1204-1662T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8424469
chr1:8424736 C
C
 A
A
 1 a0001c0003t0012g0018
a0001c0003t0012g0018
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.1204-1929G>T
c.1204-1929G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8424736
chr1:8424763 A
A
 G
G
 104 a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0037
others(101): Show 
a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0007c0020t0039g0197
a0009c0021t0003g0135
 104 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(101): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01934.hp1
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1204-1956T>C
c.1204-1956T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8424763
chr1:8424941 G
G
 A
A
 1 a0001c0003t0004g0012
a0001c0003t0004g0012
 1 HG00544.hp2
HG00544.hp2
 intron_variant MODIFIER c.1204-2134C>T
c.1204-2134C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8424941
chr1:8425005 A
A
 T
T
 8 a0001c0002t0005g0110
a0001c0010t0007g0026
a0001c0010t0007g0034
others(5): Show 
a0001c0002t0005g0110
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0006c0025t0007g0025
 8 HG02280.hp1
HG02451.hp2
HG02647.hp2
others(5): Show 
HG02280.hp1
HG02451.hp2
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp2
HG02965.hp1
HG03540.hp2
 intron_variant MODIFIER c.1204-2198T>A
c.1204-2198T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8425005
chr1:8425552 C
C
 G
G
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.1204-2745G>C
c.1204-2745G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8425552
chr1:8425619 G
G
 T
T
 2 a0005c0013t0021g0023
a0005c0013t0029g0111
a0005c0013t0021g0023
a0005c0013t0029g0111
 2 HG03041.hp1
HG03471.hp1
HG03041.hp1
HG03471.hp1
 intron_variant MODIFIER c.1204-2812C>A
c.1204-2812C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8425619
chr1:8425844 T
T
 C
C
 56 a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0038
others(53): Show 
a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0009c0021t0003g0135
 56 HG00140.hp2
HG00280.hp1
HG00597.hp2
others(53): Show 
HG00140.hp2
HG00280.hp1
HG00597.hp2
HG00609.hp2
HG01167.hp1
HG01167.hp2
HG01169.hp2
HG01175.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02486.hp2
HG02523.hp1
HG02647.hp1
HG02698.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp2
HG03453.hp2
HG03491.hp2
HG03579.hp2
HG03688.hp1
HG03831.hp2
HG04184.hp2
HG04199.hp2
NA18944.hp1
NA18964.hp2
NA18967.hp1
NA18983.hp2
NA18985.hp2
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.1204-3037A>G
c.1204-3037A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8425844
chr1:8425964 T
T
 C
C
 7 a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
others(4): Show 
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
 7 HG02109.hp1
HG02257.hp2
HG02818.hp1
others(4): Show 
HG02109.hp1
HG02257.hp2
HG02818.hp1
HG03130.hp2
HG03209.hp1
HG03516.hp1
NA21309.hp1
 intron_variant MODIFIER c.1204-3157A>G
c.1204-3157A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8425964
chr1:8426071 A
A
 C
C
 31 a0001c0001t0001g0037
a0001c0003t0004g0007
a0001c0003t0004g0010
others(28): Show 
a0001c0001t0001g0037
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0015t0001g0009
a0001c0016t0020g0001
a0002c0026t0008g0140
a0004c0012t0008g0137
a0004c0012t0008g0138
 31 HG00140.hp1
HG00544.hp2
HG00639.hp2
others(28): Show 
HG00140.hp1
HG00544.hp2
HG00639.hp2
HG00741.hp2
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG01358.hp2
HG01934.hp1
HG01981.hp1
HG02074.hp1
HG02258.hp2
HG02280.hp2
HG02622.hp2
HG02683.hp2
HG02698.hp1
HG02896.hp1
HG02976.hp2
HG03195.hp1
HG03654.hp2
HG04115.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18946.hp1
NA18973.hp1
NA18993.hp1
NA19009.hp2
NA19043.hp2
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1204-3264T>G
c.1204-3264T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8426071
chr1:8426262 G
G
 A
A
 4 a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
others(1): Show 
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0022g0121
 4 HG01167.hp1
HG02257.hp1
HG03453.hp2
others(1): Show 
HG01167.hp1
HG02257.hp1
HG03453.hp2
HG03579.hp2
 intron_variant MODIFIER c.1204-3455C>T
c.1204-3455C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8426262
chr1:8426281 C
C
 G
G
 38 a0001c0001t0001g0037
a0001c0003t0004g0007
a0001c0003t0004g0010
others(35): Show 
a0001c0001t0001g0037
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0015t0001g0009
a0001c0016t0020g0001
a0002c0026t0008g0140
a0004c0012t0008g0137
a0004c0012t0008g0138
 38 HG00140.hp1
HG00544.hp2
HG00639.hp2
others(35): Show 
HG00140.hp1
HG00544.hp2
HG00639.hp2
HG00741.hp2
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG01358.hp2
HG01934.hp1
HG01981.hp1
HG02074.hp1
HG02109.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp2
HG02622.hp2
HG02683.hp2
HG02698.hp1
HG02818.hp1
HG02896.hp1
HG02976.hp2
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03516.hp1
HG03654.hp2
HG04115.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18946.hp1
NA18973.hp1
NA18993.hp1
NA19009.hp2
NA19043.hp2
NA20129.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1204-3474G>C
c.1204-3474G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8426281
chr1:8426327 G
G
 A
A
 3 a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
 3 HG02145.hp1
HG02970.hp2
HG06807.hp1
HG02145.hp1
HG02970.hp2
HG06807.hp1
 intron_variant MODIFIER c.1204-3520C>T
c.1204-3520C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8426327
chr1:8426379 G
G
 A
A
 1 a0001c0004t0010g0107
a0001c0004t0010g0107
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.1204-3572C>T
c.1204-3572C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8426379
chr1:8426414 A
A
 G
G
 4 a0001c0004t0003g0109
a0001c0004t0040g0199
a0001c0009t0041g0198
others(1): Show 
a0001c0004t0003g0109
a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
 4 HG02145.hp1
HG02970.hp2
HG06807.hp1
others(1): Show 
HG02145.hp1
HG02970.hp2
HG06807.hp1
NA21309.hp2
 intron_variant MODIFIER c.1204-3607T>C
c.1204-3607T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8426414
chr1:8426449 CA
CA
 C
C
 103 a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0037
others(100): Show 
a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0034g0156
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
a0007c0020t0039g0197
a0009c0021t0003g0135
 103 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(100): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG01167.hp1
HG01167.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01884.hp1
HG01934.hp1
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02080.hp1
HG02109.hp2
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1204-3643delT
c.1204-3643delT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8426449
chr1:8426833 G
G
 A
A
 1 a0001c0002t0002g0157
a0001c0002t0002g0157
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.1204-4026C>T
c.1204-4026C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8426833
chr1:8426844 A
A
 G
G
 2 a0004c0012t0008g0137
a0004c0012t0008g0138
a0004c0012t0008g0137
a0004c0012t0008g0138
 2 HG02976.hp2
HG03195.hp1
HG02976.hp2
HG03195.hp1
 intron_variant MODIFIER c.1204-4037T>C
c.1204-4037T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8426844
chr1:8426882 A
A
 ACT
ACT
 2 a0005c0013t0021g0023
a0005c0013t0029g0111
a0005c0013t0021g0023
a0005c0013t0029g0111
 2 HG03041.hp1
HG03471.hp1
HG03041.hp1
HG03471.hp1
 intron_variant MODIFIER c.1204-4077_1204-407
others(6): Show 
c.1204-4077_1204-4076dupAG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8426882
chr1:8426935 T
T
 A
A
 4 a0001c0004t0003g0109
a0001c0004t0040g0199
a0001c0009t0041g0198
others(1): Show 
a0001c0004t0003g0109
a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
 4 HG02145.hp1
HG02970.hp2
HG06807.hp1
others(1): Show 
HG02145.hp1
HG02970.hp2
HG06807.hp1
NA21309.hp2
 intron_variant MODIFIER c.1204-4128A>T
c.1204-4128A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8426935
chr1:8427024 A
A
 G
G
 1 a0001c0003t0011g0096
a0001c0003t0011g0096
 1 HG02074.hp1
HG02074.hp1
 intron_variant MODIFIER c.1204-4217T>C
c.1204-4217T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8427024
chr1:8427083 T
T
 C
C
 1 a0001c0004t0006g0146
a0001c0004t0006g0146
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.1204-4276A>G
c.1204-4276A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8427083
chr1:8427146 G
G
 A
A
 2 a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0171
a0001c0002t0002g0172
 2 HG01515.hp2
HG01517.hp1
HG01515.hp2
HG01517.hp1
 intron_variant MODIFIER c.1204-4339C>T
c.1204-4339C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8427146
chr1:8427263 C
C
 A
A
 38 a0001c0001t0001g0037
a0001c0003t0004g0007
a0001c0003t0004g0010
others(35): Show 
a0001c0001t0001g0037
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0015t0001g0009
a0001c0016t0020g0001
a0002c0026t0008g0140
a0004c0012t0008g0137
a0004c0012t0008g0138
 38 HG00140.hp1
HG00544.hp2
HG00639.hp2
others(35): Show 
HG00140.hp1
HG00544.hp2
HG00639.hp2
HG00741.hp2
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG01358.hp2
HG01934.hp1
HG01981.hp1
HG02074.hp1
HG02109.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp2
HG02622.hp2
HG02683.hp2
HG02698.hp1
HG02818.hp1
HG02896.hp1
HG02976.hp2
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03516.hp1
HG03654.hp2
HG04115.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18946.hp1
NA18973.hp1
NA18993.hp1
NA19009.hp2
NA19043.hp2
NA20129.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1204-4456G>T
c.1204-4456G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8427263
chr1:8427455 T
T
 C
C
 4 a0001c0004t0003g0109
a0001c0004t0040g0199
a0001c0009t0041g0198
others(1): Show 
a0001c0004t0003g0109
a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
 4 HG02145.hp1
HG02970.hp2
HG06807.hp1
others(1): Show 
HG02145.hp1
HG02970.hp2
HG06807.hp1
NA21309.hp2
 intron_variant MODIFIER c.1204-4648A>G
c.1204-4648A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8427455
chr1:8427637 T
T
 TA
TA
 43 a0001c0001t0001g0048
a0001c0001t0003g0095
a0001c0002t0002g0167
others(40): Show 
a0001c0001t0001g0048
a0001c0001t0003g0095
a0001c0002t0002g0167
a0001c0002t0002g0176
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0027g0106
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0019g0030
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0014t0002g0191
a0001c0015t0001g0009
a0001c0016t0020g0001
a0002c0026t0008g0140
a0004c0012t0008g0137
a0005c0013t0021g0023
a0007c0020t0039g0197
 43 HG00140.hp1
HG00544.hp2
HG00639.hp2
others(40): Show 
HG00140.hp1
HG00544.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG01358.hp2
HG01361.hp1
HG01934.hp1
HG01981.hp1
HG02074.hp1
HG02109.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02622.hp2
HG02683.hp2
HG02698.hp1
HG02735.hp1
HG02886.hp2
HG02896.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp1
HG03654.hp2
HG06807.hp1
NA18939.hp1
NA18967.hp2
NA18973.hp1
NA18993.hp1
NA19009.hp2
NA19043.hp2
NA19085.hp2
NA20129.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1204-4831dupT
c.1204-4831dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8427637
chr1:8427637 T
T
 TAA
TAA
 59 a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0038
others(56): Show 
a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0003t0011g0108
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0014g0126
a0001c0005t0026g0127
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0009c0021t0003g0135
 59 HG00140.hp2
HG00280.hp1
HG00597.hp2
others(56): Show 
HG00140.hp2
HG00280.hp1
HG00597.hp2
HG00609.hp2
HG01175.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp1
HG01884.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp2
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02647.hp1
HG02698.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03139.hp2
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp2
HG03491.hp2
HG03688.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp2
NA18944.hp1
NA18964.hp2
NA18967.hp1
NA18983.hp2
NA18985.hp2
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19070.hp2
NA19074.hp1
NA19090.hp1
NA20300.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1204-4832_1204-483
others(6): Show 
c.1204-4832_1204-4831dupTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8427637
chr1:8427637 T
T
 TAAA
TAAA
 6 a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0062
others(3): Show 
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0062
a0001c0001t0001g0073
a0001c0004t0010g0142
a0001c0004t0022g0121
 6 HG01167.hp2
HG01169.hp2
HG01496.hp2
others(3): Show 
HG01167.hp2
HG01169.hp2
HG01496.hp2
HG02257.hp1
HG03139.hp1
HG03579.hp2
 intron_variant MODIFIER c.1204-4833_1204-483
others(7): Show 
c.1204-4833_1204-4831dupTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8427637
chr1:8427637 TA
TA
 T
T
 7 a0001c0001t0030g0143
a0001c0001t0038g0195
a0001c0002t0002g0157
others(4): Show 
a0001c0001t0030g0143
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0002g0174
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0007t0003g0099
 7 HG01515.hp1
HG02155.hp2
HG02622.hp1
others(4): Show 
HG01515.hp1
HG02155.hp2
HG02622.hp1
HG03130.hp1
HG03579.hp1
NA18946.hp2
NA20752.hp2
 intron_variant MODIFIER c.1204-4831delT
c.1204-4831delT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8427637
chr1:8427958 T
T
 G
G
 1 a0001c0004t0003g0109
a0001c0004t0003g0109
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.1204-5151A>C
c.1204-5151A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8427958
chr1:8427992 G
G
 C
C
 1 a0001c0002t0002g0163
a0001c0002t0002g0163
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.1204-5185C>G
c.1204-5185C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8427992
chr1:8428169 T
T
 C
C
 1 a0001c0004t0010g0142
a0001c0004t0010g0142
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.1204-5362A>G
c.1204-5362A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8428169
chr1:8428172 A
A
 G
G
 1 a0001c0004t0027g0106
a0001c0004t0027g0106
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.1204-5365T>C
c.1204-5365T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8428172
chr1:8428205 C
C
 T
T
 1 a0001c0002t0005g0136
a0001c0002t0005g0136
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.1204-5398G>A
c.1204-5398G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8428205
chr1:8428241 T
T
 C
C
 2 a0001c0004t0014g0126
a0001c0019t0014g0119
a0001c0004t0014g0126
a0001c0019t0014g0119
 2 HG02965.hp2
HG03195.hp2
HG02965.hp2
HG03195.hp2
 intron_variant MODIFIER c.1204-5434A>G
c.1204-5434A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8428241
chr1:8428305 G
G
 A
A
 1 a0001c0004t0003g0109
a0001c0004t0003g0109
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.1204-5498C>T
c.1204-5498C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8428305
chr1:8428505 A
A
 G
G
 41 a0001c0001t0001g0037
a0001c0003t0004g0007
a0001c0003t0004g0010
others(38): Show 
a0001c0001t0001g0037
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0015t0001g0009
a0001c0016t0020g0001
a0002c0026t0008g0140
a0004c0012t0008g0137
a0004c0012t0008g0138
a0007c0020t0039g0197
 41 HG00140.hp1
HG00544.hp2
HG00639.hp2
others(38): Show 
HG00140.hp1
HG00544.hp2
HG00639.hp2
HG00741.hp2
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG01358.hp2
HG01934.hp1
HG01981.hp1
HG02074.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp2
HG02622.hp2
HG02683.hp2
HG02698.hp1
HG02818.hp1
HG02896.hp1
HG02970.hp2
HG02976.hp2
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03516.hp1
HG03654.hp2
HG04115.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18946.hp1
NA18973.hp1
NA18993.hp1
NA19009.hp2
NA19043.hp2
NA20129.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1204-5698T>C
c.1204-5698T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8428505
chr1:8428667 G
G
 A
A
 1 a0001c0002t0002g0166
a0001c0002t0002g0166
 1 NA19070.hp1
NA19070.hp1
 intron_variant MODIFIER c.1204-5860C>T
c.1204-5860C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8428667
chr1:8428707 C
C
 T
T
 1 a0001c0004t0027g0106
a0001c0004t0027g0106
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.1204-5900G>A
c.1204-5900G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8428707
chr1:8428793 A
A
 G
G
 4 a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
others(1): Show 
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0022g0121
 4 HG01167.hp1
HG02257.hp1
HG03453.hp2
others(1): Show 
HG01167.hp1
HG02257.hp1
HG03453.hp2
HG03579.hp2
 intron_variant MODIFIER c.1204-5986T>C
c.1204-5986T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8428793
chr1:8428851 A
A
 G
G
 1 a0001c0009t0041g0198
a0001c0009t0041g0198
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.1204-6044T>C
c.1204-6044T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8428851
chr1:8428852 A
A
 G
G
 2 a0001c0004t0014g0126
a0001c0019t0014g0119
a0001c0004t0014g0126
a0001c0019t0014g0119
 2 HG02965.hp2
HG03195.hp2
HG02965.hp2
HG03195.hp2
 intron_variant MODIFIER c.1204-6045T>C
c.1204-6045T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8428852
chr1:8429242 C
C
 T
T
 101 a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0037
others(98): Show 
a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0010g0107
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0007c0020t0039g0197
a0009c0021t0003g0135
 101 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(98): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01934.hp1
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp2
HG03491.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1204-6435G>A
c.1204-6435G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8429242
chr1:8429334 G
G
 A
A
 3 a0001c0004t0010g0107
a0001c0004t0010g0142
a0001c0004t0022g0121
a0001c0004t0010g0107
a0001c0004t0010g0142
a0001c0004t0022g0121
 3 HG02257.hp1
HG03453.hp2
HG03579.hp2
HG02257.hp1
HG03453.hp2
HG03579.hp2
 intron_variant MODIFIER c.1204-6527C>T
c.1204-6527C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8429334
chr1:8429380 T
T
 C
C
 2 a0005c0013t0021g0023
a0005c0013t0029g0111
a0005c0013t0021g0023
a0005c0013t0029g0111
 2 HG03041.hp1
HG03471.hp1
HG03041.hp1
HG03471.hp1
 intron_variant MODIFIER c.1204-6573A>G
c.1204-6573A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8429380
chr1:8429663 G
G
 A
A
 2 a0001c0004t0014g0126
a0001c0019t0014g0119
a0001c0004t0014g0126
a0001c0019t0014g0119
 2 HG02965.hp2
HG03195.hp2
HG02965.hp2
HG03195.hp2
 intron_variant MODIFIER c.1204-6856C>T
c.1204-6856C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8429663
chr1:8430260 T
T
 G
G
 43 a0001c0001t0001g0037
a0001c0003t0004g0007
a0001c0003t0004g0010
others(40): Show 
a0001c0001t0001g0037
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0003g0109
a0001c0004t0010g0142
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0015t0001g0009
a0001c0016t0020g0001
a0002c0026t0008g0140
a0004c0012t0008g0137
a0004c0012t0008g0138
a0007c0020t0039g0197
 43 HG00140.hp1
HG00544.hp2
HG00639.hp2
others(40): Show 
HG00140.hp1
HG00544.hp2
HG00639.hp2
HG00741.hp2
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG01358.hp2
HG01934.hp1
HG01981.hp1
HG02074.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp2
HG02622.hp2
HG02683.hp2
HG02698.hp1
HG02818.hp1
HG02896.hp1
HG02970.hp2
HG02976.hp2
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03516.hp1
HG03579.hp2
HG03654.hp2
HG04115.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18946.hp1
NA18973.hp1
NA18993.hp1
NA19009.hp2
NA19043.hp2
NA20129.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1204-7453A>C
c.1204-7453A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8430260
chr1:8430266 A
A
 G
G
 2 a0005c0013t0021g0023
a0005c0013t0029g0111
a0005c0013t0021g0023
a0005c0013t0029g0111
 2 HG03041.hp1
HG03471.hp1
HG03041.hp1
HG03471.hp1
 intron_variant MODIFIER c.1204-7459T>C
c.1204-7459T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8430266
chr1:8430328 C
C
 A
A
 2 a0001c0004t0003g0109
a0001c0004t0010g0142
a0001c0004t0003g0109
a0001c0004t0010g0142
 2 HG03579.hp2
NA21309.hp2
HG03579.hp2
NA21309.hp2
 intron_variant MODIFIER c.1204-7521G>T
c.1204-7521G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8430328
chr1:8430543 T
T
 C
C
 160 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(157): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 160 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(157): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1204-7736A>G
c.1204-7736A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8430543
chr1:8430647 C
C
 T
T
 2 a0001c0001t0001g0043
a0001c0001t0001g0066
a0001c0001t0001g0043
a0001c0001t0001g0066
 2 HG02027.hp1
HG02074.hp2
HG02027.hp1
HG02074.hp2
 intron_variant MODIFIER c.1204-7840G>A
c.1204-7840G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8430647
chr1:8430777 C
C
 G
G
 1 a0001c0001t0030g0143
a0001c0001t0030g0143
 1 HG02155.hp2
HG02155.hp2
 intron_variant MODIFIER c.1204-7970G>C
c.1204-7970G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8430777
chr1:8430837 C
C
 T
T
 1 a0001c0001t0023g0113
a0001c0001t0023g0113
 1 HG00544.hp1
HG00544.hp1
 intron_variant MODIFIER c.1204-8030G>A
c.1204-8030G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8430837
chr1:8430923 C
C
 T
T
 41 a0001c0001t0001g0037
a0001c0003t0004g0007
a0001c0003t0004g0010
others(38): Show 
a0001c0001t0001g0037
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0015t0001g0009
a0001c0016t0020g0001
a0002c0026t0008g0140
a0004c0012t0008g0137
a0004c0012t0008g0138
a0007c0020t0039g0197
 41 HG00140.hp1
HG00544.hp2
HG00639.hp2
others(38): Show 
HG00140.hp1
HG00544.hp2
HG00639.hp2
HG00741.hp2
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG01358.hp2
HG01934.hp1
HG01981.hp1
HG02074.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp2
HG02622.hp2
HG02683.hp2
HG02698.hp1
HG02818.hp1
HG02896.hp1
HG02970.hp2
HG02976.hp2
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03516.hp1
HG03654.hp2
HG04115.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18946.hp1
NA18973.hp1
NA18993.hp1
NA19009.hp2
NA19043.hp2
NA20129.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1204-8116G>A
c.1204-8116G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8430923
chr1:8430983 T
T
 C
C
 1 a0001c0004t0010g0142
a0001c0004t0010g0142
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.1204-8176A>G
c.1204-8176A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8430983
chr1:8431628 G
G
 C
C
 2 a0001c0004t0003g0109
a0001c0004t0010g0142
a0001c0004t0003g0109
a0001c0004t0010g0142
 2 HG03579.hp2
NA21309.hp2
HG03579.hp2
NA21309.hp2
 intron_variant MODIFIER c.1204-8821C>G
c.1204-8821C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8431628
chr1:8431781 A
A
 G
G
 2 a0005c0013t0021g0023
a0005c0013t0029g0111
a0005c0013t0021g0023
a0005c0013t0029g0111
 2 HG03041.hp1
HG03471.hp1
HG03041.hp1
HG03471.hp1
 intron_variant MODIFIER c.1204-8974T>C
c.1204-8974T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8431781
chr1:8432107 TATATTA
TATATTA
 T
T
 2 a0001c0002t0002g0149
a0001c0002t0035g0160
a0001c0002t0002g0149
a0001c0002t0035g0160
 2 HG02602.hp1
HG03669.hp2
HG02602.hp1
HG03669.hp2
 intron_variant MODIFIER c.1204-9306_1204-930
others(10): Show 
c.1204-9306_1204-9301delTAATAT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8432107
chr1:8432159 A
A
 G
G
 1 a0001c0002t0005g0125
a0001c0002t0005g0125
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.1204-9352T>C
c.1204-9352T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8432159
chr1:8432175 A
A
 C
C
 1 a0001c0002t0005g0110
a0001c0002t0005g0110
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.1204-9368T>G
c.1204-9368T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8432175
chr1:8432396 AGAGCACA
others(23): Show 
AGAGCACAGCACGAGGCACTGAGTGAACAAG
 A
A
 1 a0001c0001t0023g0113
a0001c0001t0023g0113
 1 HG00544.hp1
HG00544.hp1
 intron_variant MODIFIER c.1204-9619_1204-959
others(34): Show 
c.1204-9619_1204-9590delCTTGTTCACTCAGTGCCTCGTGCTGT
GCTC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8432396
chr1:8432407 C
C
 T
T
 5 a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
others(2): Show 
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0005t0019g0030
a0001c0016t0020g0001
 5 HG02074.hp1
HG02683.hp2
HG03130.hp2
others(2): Show 
HG02074.hp1
HG02683.hp2
HG03130.hp2
HG06807.hp2
NA20129.hp2
 intron_variant MODIFIER c.1204-9600G>A
c.1204-9600G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8432407
chr1:8432408 G
G
 A
A
 1 a0001c0001t0001g0075
a0001c0001t0001g0075
 1 NA18967.hp1
NA18967.hp1
 intron_variant MODIFIER c.1204-9601C>T
c.1204-9601C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8432408
chr1:8432433 A
A
 G
G
 1 a0001c0003t0011g0112
a0001c0003t0011g0112
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.1204-9626T>C
c.1204-9626T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8432433
chr1:8432486 T
T
 C
C
 3 a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0062
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0062
 3 HG01167.hp2
HG01169.hp2
HG01496.hp2
HG01167.hp2
HG01169.hp2
HG01496.hp2
 intron_variant MODIFIER c.1204-9679A>G
c.1204-9679A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8432486
chr1:8432856 T
T
 C
C
 9 a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
others(6): Show 
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0018g0002
a0001c0002t0028g0133
 9 HG01884.hp1
HG02109.hp2
HG02559.hp1
others(6): Show 
HG01884.hp1
HG02109.hp2
HG02559.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03225.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.1204-10049A>G
c.1204-10049A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8432856
chr1:8433167 C
C
 A
A
 2 a0001c0007t0001g0008
a0001c0007t0003g0099
a0001c0007t0001g0008
a0001c0007t0003g0099
 2 HG03831.hp1
NA20752.hp2
HG03831.hp1
NA20752.hp2
 intron_variant MODIFIER c.1204-10360G>T
c.1204-10360G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8433167
chr1:8433485 C
C
 T
T
 1 a0001c0001t0037g0196
a0001c0001t0037g0196
 1 HG01517.hp2
HG01517.hp2
 intron_variant MODIFIER c.1204-10678G>A
c.1204-10678G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8433485
chr1:8433553 C
C
 CT
CT
 13 a0001c0001t0001g0038
a0001c0001t0001g0046
a0001c0001t0001g0052
others(10): Show 
a0001c0001t0001g0038
a0001c0001t0001g0046
a0001c0001t0001g0052
a0001c0001t0001g0075
a0001c0001t0003g0115
a0001c0001t0036g0194
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0004t0003g0109
a0001c0007t0003g0098
a0001c0019t0014g0119
a0005c0013t0021g0023
a0005c0013t0029g0111
 13 HG00597.hp1
HG00741.hp1
HG02132.hp2
others(10): Show 
HG00597.hp1
HG00741.hp1
HG02132.hp2
HG02165.hp2
HG02523.hp1
HG03041.hp1
HG03195.hp2
HG03471.hp1
NA18967.hp1
NA18983.hp2
NA18985.hp2
NA19000.hp1
NA21309.hp2
 intron_variant MODIFIER c.1204-10747dupA
c.1204-10747dupA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8433553
chr1:8433553 C
C
 CTT
CTT
 39 a0001c0001t0001g0037
a0001c0003t0004g0007
a0001c0003t0004g0010
others(36): Show 
a0001c0001t0001g0037
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0004t0010g0142
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0015t0001g0009
a0001c0016t0020g0001
a0002c0026t0008g0140
a0004c0012t0008g0137
a0004c0012t0008g0138
a0007c0020t0039g0197
 39 HG00140.hp1
HG00544.hp2
HG00639.hp2
others(36): Show 
HG00140.hp1
HG00544.hp2
HG00639.hp2
HG00741.hp2
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG01358.hp2
HG01934.hp1
HG01981.hp1
HG02074.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp2
HG02683.hp2
HG02698.hp1
HG02818.hp1
HG02896.hp1
HG02970.hp2
HG02976.hp2
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03516.hp1
HG03579.hp2
HG03654.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18946.hp1
NA18973.hp1
NA18993.hp1
NA19043.hp2
NA20129.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1204-10748_1204-10
others(8): Show 
c.1204-10748_1204-10747dupAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8433553
chr1:8433553 C
C
 CTTT
CTTT
 5 a0001c0003t0004g0078
a0001c0003t0012g0018
a0001c0003t0017g0032
others(2): Show 
a0001c0003t0004g0078
a0001c0003t0012g0018
a0001c0003t0017g0032
a0001c0004t0014g0126
a0001c0004t0027g0106
 5 HG02622.hp2
HG02886.hp2
HG02965.hp2
others(2): Show 
HG02622.hp2
HG02886.hp2
HG02965.hp2
HG04115.hp2
NA19009.hp2
 intron_variant MODIFIER c.1204-10749_1204-10
others(9): Show 
c.1204-10749_1204-10747dupAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8433553
chr1:8433600 T
T
 C
C
 2 a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0171
a0001c0002t0002g0172
 2 HG01515.hp2
HG01517.hp1
HG01515.hp2
HG01517.hp1
 intron_variant MODIFIER c.1204-10793A>G
c.1204-10793A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8433600
chr1:8433722 G
G
 C
C
 3 a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
 3 HG02280.hp1
HG02451.hp2
HG02723.hp2
HG02280.hp1
HG02451.hp2
HG02723.hp2
 intron_variant MODIFIER c.1204-10915C>G
c.1204-10915C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8433722
chr1:8433851 C
C
 T
T
 1 a0001c0001t0006g0181
a0001c0001t0006g0181
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.1204-11044G>A
c.1204-11044G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8433851
chr1:8433873 A
A
 T
T
 57 a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0038
others(54): Show 
a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0022g0121
a0001c0005t0034g0156
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0009c0021t0003g0135
 57 HG00140.hp2
HG00280.hp1
HG00597.hp2
others(54): Show 
HG00140.hp2
HG00280.hp1
HG00597.hp2
HG00609.hp2
HG01167.hp1
HG01167.hp2
HG01169.hp2
HG01175.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02486.hp2
HG02523.hp1
HG02622.hp1
HG02647.hp1
HG02698.hp2
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp2
HG03453.hp2
HG03491.hp2
HG03579.hp1
HG03688.hp1
HG03831.hp2
HG04184.hp2
HG04199.hp2
NA18944.hp1
NA18964.hp2
NA18967.hp1
NA18983.hp2
NA18985.hp2
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.1204-11066T>A
c.1204-11066T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8433873
chr1:8434295 C
C
 T
T
 1 a0001c0002t0002g0166
a0001c0002t0002g0166
 1 NA19070.hp1
NA19070.hp1
 intron_variant MODIFIER c.1204-11488G>A
c.1204-11488G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8434295
chr1:8434447 A
A
 C
C
 1 a0001c0002t0002g0192
a0001c0002t0002g0192
 1 HG01175.hp1
HG01175.hp1
 intron_variant MODIFIER c.1204-11640T>G
c.1204-11640T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8434447
chr1:8434490 T
T
 C
C
 1 a0005c0013t0029g0111
a0005c0013t0029g0111
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.1204-11683A>G
c.1204-11683A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8434490
chr1:8434565 G
G
 C
C
 1 a0001c0002t0002g0192
a0001c0002t0002g0192
 1 HG01175.hp1
HG01175.hp1
 intron_variant MODIFIER c.1204-11758C>G
c.1204-11758C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8434565
chr1:8434580 C
C
 G
G
 1 a0001c0001t0001g0052
a0001c0001t0001g0052
 1 NA18983.hp2
NA18983.hp2
 intron_variant MODIFIER c.1204-11773G>C
c.1204-11773G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8434580
chr1:8435232 T
T
 C
C
 1 a0008c0017t0003g0101
a0008c0017t0003g0101
 1 NA20905.hp2
NA20905.hp2
 intron_variant MODIFIER c.1204-12425A>G
c.1204-12425A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8435232
chr1:8435355 T
T
 C
C
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.1204-12548A>G
c.1204-12548A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8435355
chr1:8435379 G
G
 C
C
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.1204-12572C>G
c.1204-12572C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8435379
chr1:8435385 A
A
 T
T
 1 a0001c0002t0005g0114
a0001c0002t0005g0114
 1 HG02004.hp1
HG02004.hp1
 intron_variant MODIFIER c.1204-12578T>A
c.1204-12578T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8435385
chr1:8435459 A
A
 G
G
 7 a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
others(4): Show 
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0006c0025t0007g0025
 7 HG02280.hp1
HG02451.hp2
HG02647.hp2
others(4): Show 
HG02280.hp1
HG02451.hp2
HG02647.hp2
HG02723.hp2
HG02809.hp2
HG02965.hp1
HG03540.hp2
 intron_variant MODIFIER c.1204-12652T>C
c.1204-12652T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8435459
chr1:8435530 A
A
 G
G
 43 a0001c0001t0001g0037
a0001c0003t0004g0007
a0001c0003t0004g0010
others(40): Show 
a0001c0001t0001g0037
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0014g0126
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0015t0001g0009
a0001c0016t0020g0001
a0002c0026t0008g0140
a0004c0012t0008g0137
a0004c0012t0008g0138
a0007c0020t0039g0197
 43 HG00140.hp1
HG00544.hp2
HG00639.hp2
others(40): Show 
HG00140.hp1
HG00544.hp2
HG00639.hp2
HG00741.hp2
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG01358.hp2
HG01934.hp1
HG01981.hp1
HG02074.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp2
HG02622.hp2
HG02683.hp2
HG02698.hp1
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp2
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03516.hp1
HG03654.hp2
HG04115.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18946.hp1
NA18973.hp1
NA18993.hp1
NA19009.hp2
NA19043.hp2
NA20129.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1204-12723T>C
c.1204-12723T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8435530
chr1:8435851 T
T
 C
C
 1 a0001c0005t0034g0156
a0001c0005t0034g0156
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.1204-13044A>G
c.1204-13044A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8435851
chr1:8435885 T
T
 C
C
 43 a0001c0001t0001g0037
a0001c0003t0004g0007
a0001c0003t0004g0010
others(40): Show 
a0001c0001t0001g0037
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0014g0126
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0015t0001g0009
a0001c0016t0020g0001
a0002c0026t0008g0140
a0004c0012t0008g0137
a0004c0012t0008g0138
a0007c0020t0039g0197
 43 HG00140.hp1
HG00544.hp2
HG00639.hp2
others(40): Show 
HG00140.hp1
HG00544.hp2
HG00639.hp2
HG00741.hp2
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG01358.hp2
HG01934.hp1
HG01981.hp1
HG02074.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp2
HG02622.hp2
HG02683.hp2
HG02698.hp1
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp2
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03516.hp1
HG03654.hp2
HG04115.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18946.hp1
NA18973.hp1
NA18993.hp1
NA19009.hp2
NA19043.hp2
NA20129.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1204-13078A>G
c.1204-13078A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8435885
chr1:8436071 A
A
 G
G
 1 a0001c0003t0017g0032
a0001c0003t0017g0032
 1 HG04115.hp2
HG04115.hp2
 intron_variant MODIFIER c.1204-13264T>C
c.1204-13264T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8436071
chr1:8436136 T
T
 C
C
 1 a0001c0004t0027g0106
a0001c0004t0027g0106
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.1204-13329A>G
c.1204-13329A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8436136
chr1:8436755 T
T
 G
G
 2 a0001c0004t0003g0109
a0001c0004t0010g0142
a0001c0004t0003g0109
a0001c0004t0010g0142
 2 HG03579.hp2
NA21309.hp2
HG03579.hp2
NA21309.hp2
 intron_variant MODIFIER c.1204-13948A>C
c.1204-13948A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8436755
chr1:8436863 C
C
 T
T
 1 a0001c0003t0017g0032
a0001c0003t0017g0032
 1 HG04115.hp2
HG04115.hp2
 intron_variant MODIFIER c.1204-14056G>A
c.1204-14056G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8436863
chr1:8436944 C
C
 G
G
 4 a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0022g0121
others(1): Show 
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0022g0121
a0001c0019t0014g0119
 4 HG01167.hp1
HG02257.hp1
HG03195.hp2
others(1): Show 
HG01167.hp1
HG02257.hp1
HG03195.hp2
HG03453.hp2
 intron_variant MODIFIER c.1204-14137G>C
c.1204-14137G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8436944
chr1:8436986 T
T
 C
C
 2 a0001c0004t0014g0126
a0001c0004t0027g0106
a0001c0004t0014g0126
a0001c0004t0027g0106
 2 HG02886.hp2
HG02965.hp2
HG02886.hp2
HG02965.hp2
 intron_variant MODIFIER c.1204-14179A>G
c.1204-14179A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8436986
chr1:8437118 C
C
 T
T
 1 a0001c0002t0005g0110
a0001c0002t0005g0110
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.1204-14311G>A
c.1204-14311G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8437118
chr1:8437119 G
G
 A
A
 9 a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
others(6): Show 
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0018g0002
a0001c0002t0028g0133
 9 HG01884.hp1
HG02109.hp2
HG02559.hp1
others(6): Show 
HG01884.hp1
HG02109.hp2
HG02559.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03225.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.1204-14312C>T
c.1204-14312C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8437119
chr1:8437247 T
T
 A
A
 104 a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0037
others(101): Show 
a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0007c0020t0039g0197
a0009c0021t0003g0135
 104 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(101): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01934.hp1
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1204-14440A>T
c.1204-14440A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8437247
chr1:8437429 T
T
 G
G
 1 a0001c0004t0027g0106
a0001c0004t0027g0106
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.1204-14622A>C
c.1204-14622A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8437429
chr1:8437498 T
T
 G
G
 38 a0001c0001t0001g0013
a0001c0001t0001g0033
a0001c0001t0003g0087
others(35): Show 
a0001c0001t0001g0013
a0001c0001t0001g0033
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0141
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0008c0017t0003g0101
a0010c0027t0003g0086
 38 HG00544.hp1
HG00597.hp1
HG00609.hp1
others(35): Show 
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG01192.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02602.hp2
HG02683.hp1
HG02735.hp2
HG03669.hp1
HG03688.hp2
HG03831.hp1
HG04115.hp1
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.1204-14691A>C
c.1204-14691A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8437498
chr1:8437550 C
C
 G
G
 2 a0001c0004t0003g0109
a0001c0004t0010g0142
a0001c0004t0003g0109
a0001c0004t0010g0142
 2 HG03579.hp2
NA21309.hp2
HG03579.hp2
NA21309.hp2
 intron_variant MODIFIER c.1204-14743G>C
c.1204-14743G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8437550
chr1:8437897 A
A
 T
T
 2 a0001c0004t0014g0126
a0001c0004t0027g0106
a0001c0004t0014g0126
a0001c0004t0027g0106
 2 HG02886.hp2
HG02965.hp2
HG02886.hp2
HG02965.hp2
 intron_variant MODIFIER c.1204-15090T>A
c.1204-15090T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8437897
chr1:8437902 A
A
 C
C
 1 a0001c0003t0004g0036
a0001c0003t0004g0036
 1 HG02698.hp1
HG02698.hp1
 intron_variant MODIFIER c.1204-15095T>G
c.1204-15095T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8437902
chr1:8438096 T
T
 A
A
 1 a0001c0001t0003g0122
a0001c0001t0003g0122
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.1204-15289A>T
c.1204-15289A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8438096
chr1:8438266 T
T
 TG
TG
 121 a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0037
others(118): Show 
a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0009c0021t0003g0135
 121 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(118): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01884.hp1
HG01934.hp1
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1204-15460dupC
c.1204-15460dupC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8438266
chr1:8438477 C
C
 T
T
 1 a0001c0001t0006g0170
a0001c0001t0006g0170
 1 HG02698.hp2
HG02698.hp2
 intron_variant MODIFIER c.1204-15670G>A
c.1204-15670G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8438477
chr1:8438490 A
A
 G
G
 1 a0001c0003t0004g0036
a0001c0003t0004g0036
 1 HG02698.hp1
HG02698.hp1
 intron_variant MODIFIER c.1204-15683T>C
c.1204-15683T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8438490
chr1:8438512 G
G
 C
C
 2 a0001c0004t0003g0109
a0001c0004t0010g0142
a0001c0004t0003g0109
a0001c0004t0010g0142
 2 HG03579.hp2
NA21309.hp2
HG03579.hp2
NA21309.hp2
 intron_variant MODIFIER c.1204-15705C>G
c.1204-15705C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8438512
chr1:8438574 C
C
 G
G
 1 a0001c0003t0017g0032
a0001c0003t0017g0032
 1 HG04115.hp2
HG04115.hp2
 intron_variant MODIFIER c.1204-15767G>C
c.1204-15767G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8438574
chr1:8438620 A
A
 T
T
 40 a0001c0001t0001g0037
a0001c0003t0004g0007
a0001c0003t0004g0010
others(37): Show 
a0001c0001t0001g0037
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0015t0001g0009
a0001c0016t0020g0001
a0002c0026t0008g0140
a0004c0012t0008g0137
a0004c0012t0008g0138
a0007c0020t0039g0197
 40 HG00140.hp1
HG00544.hp2
HG00639.hp2
others(37): Show 
HG00140.hp1
HG00544.hp2
HG00639.hp2
HG00741.hp2
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG01358.hp2
HG01934.hp1
HG01981.hp1
HG02074.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp2
HG02622.hp2
HG02683.hp2
HG02698.hp1
HG02818.hp1
HG02896.hp1
HG02970.hp2
HG02976.hp2
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03516.hp1
HG03654.hp2
HG04115.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18946.hp1
NA18973.hp1
NA18993.hp1
NA19043.hp2
NA20129.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1204-15813T>A
c.1204-15813T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8438620
chr1:8438632 G
G
 A
A
 3 a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0022g0121
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0022g0121
 3 HG01167.hp1
HG02257.hp1
HG03453.hp2
HG01167.hp1
HG02257.hp1
HG03453.hp2
 intron_variant MODIFIER c.1204-15825C>T
c.1204-15825C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8438632
chr1:8439208 T
T
 C
C
 1 a0001c0003t0011g0096
a0001c0003t0011g0096
 1 HG02074.hp1
HG02074.hp1
 intron_variant MODIFIER c.1204-16401A>G
c.1204-16401A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8439208
chr1:8439343 C
C
 T
T
 7 a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
others(4): Show 
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0006c0025t0007g0025
 7 HG02280.hp1
HG02451.hp2
HG02647.hp2
others(4): Show 
HG02280.hp1
HG02451.hp2
HG02647.hp2
HG02723.hp2
HG02809.hp2
HG02965.hp1
HG03540.hp2
 intron_variant MODIFIER c.1204-16536G>A
c.1204-16536G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8439343
chr1:8439645 G
G
 A
A
 8 a0001c0004t0027g0106
a0001c0010t0007g0026
a0001c0010t0007g0034
others(5): Show 
a0001c0004t0027g0106
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0006c0025t0007g0025
 8 HG02280.hp1
HG02451.hp2
HG02647.hp2
others(5): Show 
HG02280.hp1
HG02451.hp2
HG02647.hp2
HG02723.hp2
HG02809.hp2
HG02886.hp2
HG02965.hp1
HG03540.hp2
 intron_variant MODIFIER c.1204-16838C>T
c.1204-16838C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8439645
chr1:8439702 G
G
 C
C
 1 a0001c0002t0002g0164
a0001c0002t0002g0164
 1 HG02129.hp1
HG02129.hp1
 intron_variant MODIFIER c.1204-16895C>G
c.1204-16895C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8439702
chr1:8439932 G
G
 C
C
 1 a0001c0004t0003g0109
a0001c0004t0003g0109
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.1204-17125C>G
c.1204-17125C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8439932
chr1:8440029 G
G
 A
A
 9 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(6): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0026g0127
a0001c0009t0041g0198
a0007c0020t0039g0197
 9 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(6): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
NA21309.hp1
 intron_variant MODIFIER c.1204-17222C>T
c.1204-17222C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8440029
chr1:8440058 G
G
 A
A
 1 a0001c0005t0034g0156
a0001c0005t0034g0156
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.1204-17251C>T
c.1204-17251C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8440058
chr1:8440241 G
G
 A
A
 4 a0001c0002t0002g0148
a0001c0002t0002g0150
a0001c0002t0002g0158
others(1): Show 
a0001c0002t0002g0148
a0001c0002t0002g0150
a0001c0002t0002g0158
a0001c0002t0002g0159
 4 HG01981.hp2
HG03654.hp1
HG04184.hp1
others(1): Show 
HG01981.hp2
HG03654.hp1
HG04184.hp1
NA20752.hp1
 intron_variant MODIFIER c.1204-17434C>T
c.1204-17434C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8440241
chr1:8440324 G
G
 A
A
 2 a0001c0004t0003g0109
a0001c0004t0010g0142
a0001c0004t0003g0109
a0001c0004t0010g0142
 2 HG03579.hp2
NA21309.hp2
HG03579.hp2
NA21309.hp2
 intron_variant MODIFIER c.1204-17517C>T
c.1204-17517C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8440324
chr1:8440529 C
C
 T
T
 1 a0001c0002t0002g0157
a0001c0002t0002g0157
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.1204-17722G>A
c.1204-17722G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8440529
chr1:8440530 G
G
 A
A
 4 a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
others(1): Show 
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
 4 HG02647.hp1
HG02970.hp1
HG03041.hp2
others(1): Show 
HG02647.hp1
HG02970.hp1
HG03041.hp2
HG03139.hp2
 intron_variant MODIFIER c.1204-17723C>T
c.1204-17723C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8440530
chr1:8440576 C
C
 T
T
 1 a0001c0002t0035g0160
a0001c0002t0035g0160
 1 HG03669.hp2
HG03669.hp2
 intron_variant MODIFIER c.1204-17769G>A
c.1204-17769G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8440576
chr1:8440588 T
T
 TA
TA
 20 a0001c0001t0001g0067
a0001c0001t0001g0075
a0001c0002t0002g0174
others(17): Show 
a0001c0001t0001g0067
a0001c0001t0001g0075
a0001c0002t0002g0174
a0001c0002t0002g0179
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0003t0004g0014
a0001c0004t0001g0003
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0022g0121
a0001c0007t0001g0008
a0001c0009t0041g0198
 20 HG01167.hp1
HG01358.hp2
HG01884.hp1
others(17): Show 
HG01167.hp1
HG01358.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp1
HG02257.hp1
HG02559.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03225.hp1
HG03453.hp2
HG03471.hp2
HG03516.hp2
HG03831.hp1
HG03831.hp2
HG04184.hp2
NA18906.hp2
NA18946.hp2
NA18967.hp1
 intron_variant MODIFIER c.1204-17782dupT
c.1204-17782dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8440588
chr1:8440650 G
G
 A
A
 2 a0001c0004t0003g0109
a0001c0004t0010g0142
a0001c0004t0003g0109
a0001c0004t0010g0142
 2 HG03579.hp2
NA21309.hp2
HG03579.hp2
NA21309.hp2
 intron_variant MODIFIER c.1204-17843C>T
c.1204-17843C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8440650
chr1:8440731 C
C
 CA
CA
 43 a0001c0001t0001g0037
a0001c0002t0006g0145
a0001c0003t0004g0007
others(40): Show 
a0001c0001t0001g0037
a0001c0002t0006g0145
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0016t0020g0001
a0002c0026t0008g0140
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0007c0020t0039g0197
 43 HG00140.hp1
HG00544.hp2
HG00639.hp2
others(40): Show 
HG00140.hp1
HG00544.hp2
HG00639.hp2
HG00741.hp2
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG01358.hp2
HG01934.hp1
HG01981.hp1
HG02074.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp2
HG02622.hp2
HG02683.hp2
HG02698.hp1
HG02818.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03471.hp1
HG03491.hp1
HG03516.hp1
HG03654.hp2
HG04115.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18946.hp1
NA18973.hp1
NA18993.hp1
NA19009.hp2
NA19043.hp2
NA20129.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1204-17925dupT
c.1204-17925dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8440731
chr1:8440997 T
T
 A
A
 39 a0001c0001t0001g0013
a0001c0001t0001g0033
a0001c0001t0003g0087
others(36): Show 
a0001c0001t0001g0013
a0001c0001t0001g0033
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0141
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0008c0017t0003g0101
a0010c0027t0003g0086
 39 HG00544.hp1
HG00597.hp1
HG00609.hp1
others(36): Show 
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG01192.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG02132.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02602.hp2
HG02683.hp1
HG02735.hp2
HG03669.hp1
HG03688.hp2
HG03831.hp1
HG04115.hp1
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.1204-18190A>T
c.1204-18190A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8440997
chr1:8441119 G
G
 C
C
 1 a0001c0002t0005g0110
a0001c0002t0005g0110
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.1204-18312C>G
c.1204-18312C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8441119
chr1:8441453 A
A
 C
C
 2 a0001c0004t0014g0126
a0001c0019t0014g0119
a0001c0004t0014g0126
a0001c0019t0014g0119
 2 HG02965.hp2
HG03195.hp2
HG02965.hp2
HG03195.hp2
 intron_variant MODIFIER c.1204-18646T>G
c.1204-18646T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8441453
chr1:8441619 G
G
 A
A
 1 a0001c0001t0001g0066
a0001c0001t0001g0066
 1 HG02027.hp1
HG02027.hp1
 intron_variant MODIFIER c.1204-18812C>T
c.1204-18812C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8441619
chr1:8441635 C
C
 T
T
 1 a0001c0004t0003g0109
a0001c0004t0003g0109
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.1204-18828G>A
c.1204-18828G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8441635
chr1:8441726 A
A
 G
G
 105 a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0033
others(102): Show 
a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0002g0157
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0007c0020t0039g0197
a0009c0021t0003g0135
 105 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(102): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp1
HG01884.hp2
HG01934.hp1
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp2
HG03491.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1204-18919T>C
c.1204-18919T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8441726
chr1:8441763 A
A
 C
C
 9 a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
others(6): Show 
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0018g0002
a0001c0002t0028g0133
 9 HG01884.hp1
HG02109.hp2
HG02559.hp1
others(6): Show 
HG01884.hp1
HG02109.hp2
HG02559.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03225.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.1204-18956T>G
c.1204-18956T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8441763
chr1:8441930 T
T
 TCAATACA
others(308): Show 
TCAATACACACACTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC
GCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAG
CTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGC
TGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTA
GTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGAC
CTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGACTACAGGCGTG
AGCCACCGCGCCCGGC
 2 a0001c0001t0001g0013
a0001c0001t0003g0141
a0001c0001t0001g0013
a0001c0001t0003g0141
 2 HG01192.hp2
HG02683.hp1
HG01192.hp2
HG02683.hp1
 intron_variant MODIFIER c.1204-19124_1204-19
others(321): Show 
c.1204-19124_1204-19123insGCCGGGCGCGGTGGCTCACGCCTG
TAGTCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAG
ATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATA
CAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGG
GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGT
GAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGC
GAGACTCCGTCTCAAAAAAAAAAAAAAAAGTGTGTGTATTG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8441930
chr1:8441930 T
T
 TCAATACA
others(310): Show 
TCAATACACACACTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG
TCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCA
AGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTA
GCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTT
TAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTG
ACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGACTACAGGCG
TGAGCCACCGCGCCCGGC
 1 a0008c0017t0003g0101
a0008c0017t0003g0101
 1 NA20905.hp2
NA20905.hp2
 intron_variant MODIFIER c.1204-19124_1204-19
others(323): Show 
c.1204-19124_1204-19123insGCCGGGCGCGGTGGCTCACGCCTG
TAGTCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAG
ATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATA
CAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGG
GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGT
GAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGC
GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAGTGTGTGTATTG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8441930
chr1:8441930 T
T
 TCAATACA
others(315): Show 
TCAATACACACACTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG
CTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCA
CTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC
CAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGT
ATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATC
TCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGACTAC
AGGCGTGAGCCACCGCGCCCGGC
 1 a0001c0001t0016g0054
a0001c0001t0016g0054
 1 HG02293.hp1
HG02293.hp1
 intron_variant MODIFIER c.1204-19124_1204-19
others(328): Show 
c.1204-19124_1204-19123insGCCGGGCGCGGTGGCTCACGCCTG
TAGTCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAG
ATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATA
CAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGG
GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGT
GAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGC
GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAGTGTGTGTATTG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8441930
chr1:8441930 T
T
 TCAATACA
others(319): Show 
TCAATACACACACTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT
CTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGG
CTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC
TCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTT
TTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTC
GATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGA
CTACAGGCGTGAGCCACCGCGCCCGGC
 2 a0001c0001t0030g0143
a0001c0007t0003g0084
a0001c0001t0030g0143
a0001c0007t0003g0084
 2 HG02155.hp2
NA18983.hp1
HG02155.hp2
NA18983.hp1
 intron_variant MODIFIER c.1204-19124_1204-19
others(332): Show 
c.1204-19124_1204-19123insGCCGGGCGCGGTGGCTCACGCCTG
TAGTCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAG
ATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATA
CAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGG
GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGT
GAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGC
GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGTGTGTGTAT
TG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8441930
chr1:8441930 T
T
 TCAATACA
others(320): Show 
TCAATACACACACTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG
TCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCG
GCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGC
CTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTT
TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCT
CGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGG
ACTACAGGCGTGAGCCACCGCGCCCGGC
 1 a0001c0007t0003g0098
a0001c0007t0003g0098
 1 NA19000.hp1
NA19000.hp1
 intron_variant MODIFIER c.1204-19124_1204-19
others(333): Show 
c.1204-19124_1204-19123insGCCGGGCGCGGTGGCTCACGCCTG
TAGTCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAG
ATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATA
CAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGG
GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGT
GAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGC
GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTGTGTGTA
TTG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8441930
chr1:8441930 T
T
 TCAATACA
others(321): Show 
TCAATACACACACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA
GTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTC
GGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAG
CCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATT
TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTC
TCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGG
GACTACAGGCGTGAGCCACCGCGCCCGGC
 1 a0001c0004t0005g0079
a0001c0004t0005g0079
 1 HG02735.hp2
HG02735.hp2
 intron_variant MODIFIER c.1204-19124_1204-19
others(334): Show 
c.1204-19124_1204-19123insGCCGGGCGCGGTGGCTCACGCCTG
TAGTCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAG
ATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATA
CAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGG
GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGT
GAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGC
GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTGTGTGT
ATTG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8441930
chr1:8441930 T
T
 TCAATACA
others(335): Show 
TCAATACACACACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGC
AGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCA
TTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACC
GCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGT
TAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCC
TCCCAAAGTGCTGGGACTACAGGCGTGAGCCACCGCGCCCGGC
 1 a0001c0007t0001g0008
a0001c0007t0001g0008
 1 HG03831.hp1
HG03831.hp1
 intron_variant MODIFIER c.1204-19124_1204-19
others(348): Show 
c.1204-19124_1204-19123insGCCGGGCGCGGTGGCTCACGCCTG
TAGTCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAG
ATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATA
CAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGG
GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT
GAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGC
GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
AAAAAAGTGTGTGTATTG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8441930
chr1:8441930 T
T
 TCAATACA
others(335): Show 
TCAATACACACACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGC
AGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCA
TTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACC
GCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGT
TAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCC
TCCCAAAGTGCTGGGACTACAGGCGTGAGCCACCGCGCCCGGC
 3 a0001c0001t0003g0104
a0002c0006t0003g0089
a0010c0027t0003g0086
a0001c0001t0003g0104
a0002c0006t0003g0089
a0010c0027t0003g0086
 3 HG00609.hp1
HG02132.hp1
NA18985.hp1
HG00609.hp1
HG02132.hp1
NA18985.hp1
 intron_variant MODIFIER c.1204-19124_1204-19
others(348): Show 
c.1204-19124_1204-19123insGCCGGGCGCGGTGGCTCACGCCTG
TAGTCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAG
ATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATA
CAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGG
GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGT
GAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGC
GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
AAAAAAGTGTGTGTATTG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8441930
chr1:8441930 T
T
 TCAATACA
others(336): Show 
TCAATACACACACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTG
CAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCC
ATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCAC
CGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTG
TTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGC
CTCCCAAAGTGCTGGGACTACAGGCGTGAGCCACCGCGCCCGGC
 2 a0001c0007t0003g0099
a0002c0006t0003g0091
a0001c0007t0003g0099
a0002c0006t0003g0091
 2 NA19002.hp2
NA20752.hp2
NA19002.hp2
NA20752.hp2
 intron_variant MODIFIER c.1204-19124_1204-19
others(349): Show 
c.1204-19124_1204-19123insGCCGGGCGCGGTGGCTCACGCCTG
TAGTCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAG
ATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATA
CAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGG
GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGT
GAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGC
GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
AAAAAAAGTGTGTGTATTG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8441930
chr1:8441930 T
T
 TCAATACA
others(337): Show 
TCAATACACACACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACT
GCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGC
CATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCA
CCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGT
GTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGG
CCTCCCAAAGTGCTGGGACTACAGGCGTGAGCCACCGCGCCCGGC
 2 a0001c0001t0003g0087
a0002c0006t0003g0090
a0001c0001t0003g0087
a0002c0006t0003g0090
 2 HG02165.hp1
HG03669.hp1
HG02165.hp1
HG03669.hp1
 intron_variant MODIFIER c.1204-19124_1204-19
others(350): Show 
c.1204-19124_1204-19123insGCCGGGCGCGGTGGCTCACGCCTG
TAGTCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAG
ATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATA
CAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGG
GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGT
GAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGC
GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
AAAAAAAAGTGTGTGTATTG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8441930
chr1:8441930 T
T
 TCAATACA
others(338): Show 
TCAATACACACACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGAC
TGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACG
CCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCGCC
ACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCG
TGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCG
GCCTCCCAAAGTGCTGGGACTACAGGCGTGAGCCACCGCGCCCGGC
 1 a0002c0006t0003g0097
a0002c0006t0003g0097
 1 NA18944.hp2
NA18944.hp2
 intron_variant MODIFIER c.1204-19124_1204-19
others(351): Show 
c.1204-19124_1204-19123insGCCGGGCGCGGTGGCTCACGCCTG
TAGTCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAG
ATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATA
CAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGG
GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGT
GAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGC
GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
AAAAAAAAAGTGTGTGTATTG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8441930
chr1:8441930 T
T
 TCAATACA
others(340): Show 
TCAATACACACACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGG
ACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCA
CGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCG
CCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCAC
CGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCT
CGGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGCCACCGCGCCCGGC
 3 a0001c0001t0006g0181
a0001c0004t0005g0123
a0001c0004t0025g0080
a0001c0001t0006g0181
a0001c0004t0005g0123
a0001c0004t0025g0080
 3 HG02602.hp2
HG04115.hp1
HG04228.hp2
HG02602.hp2
HG04115.hp1
HG04228.hp2
 intron_variant MODIFIER c.1204-19124_1204-19
others(353): Show 
c.1204-19124_1204-19123insGCCGGGCGCGGTGGCTCACGCCTG
TAGTCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAG
ATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATA
CAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGG
GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGT
GAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGC
GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
AAAAAAAAAAAGTGTGTGTATTG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8441930
chr1:8441930 T
T
 TCAATACA
others(342): Show 
TCAATACACACACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGC
GGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTT
CACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGCC
CGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTC
ACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGC
CTCGGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGCCACCGCGCCCGGC
 3 a0001c0001t0003g0088
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0088
a0001c0001t0003g0100
a0001c0001t0003g0102
 3 HG01496.hp1
HG03688.hp2
NA19007.hp2
HG01496.hp1
HG03688.hp2
NA19007.hp2
 intron_variant MODIFIER c.1204-19124_1204-19
others(355): Show 
c.1204-19124_1204-19123insGCCGGGCGCGGTGGCTCACGCCTG
TAGTCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAG
ATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATA
CAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGG
GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGT
GAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGC
GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
AAAAAAAAAAAAAGTGTGTGTATTG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8441930
chr1:8441930 T
T
 TCAATACA
others(343): Show 
TCAATACACACACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTG
CGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGT
TCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGC
CCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTT
CACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCG
CCTCGGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGCCACCGCGCCCGG
C
 1 a0001c0001t0003g0103
a0001c0001t0003g0103
 1 NA19090.hp2
NA19090.hp2
 intron_variant MODIFIER c.1204-19124_1204-19
others(356): Show 
c.1204-19124_1204-19123insGCCGGGCGCGGTGGCTCACGCCTG
TAGTCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAG
ATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATA
CAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGG
GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGT
GAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGC
GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
AAAAAAAAAAAAAAGTGTGTGTATTG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8441930
chr1:8441930 T
T
 TCAATACA
others(347): Show 
TCAATACACACACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGG
ACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCC
GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAG
GCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG
GTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCA
CCCGCCTCGGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGCCACCGCGC
CCGGC
 1 a0001c0001t0003g0093
a0001c0001t0003g0093
 1 NA18964.hp1
NA18964.hp1
 intron_variant MODIFIER c.1204-19124_1204-19
others(360): Show 
c.1204-19124_1204-19123insGCCGGGCGCGGTGGCTCACGCCTG
TAGTCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAG
ATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATA
CAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGG
GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGT
GAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGC
GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
AAAAAAAAAAAAAAAAAAGTGTGTGTATTG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8441930
chr1:8441930 T
T
 TCAATACA
others(351): Show 
TCAATACACACACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG
CCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCT
TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACT
ACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA
CGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGA
TCCACCCGCCTCGGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGCCACC
GCGCCCGGC
 1 a0001c0004t0005g0083
a0001c0004t0005g0083
 1 HG01433.hp2
HG01433.hp2
 intron_variant MODIFIER c.1204-19124_1204-19
others(364): Show 
c.1204-19124_1204-19123insGCCGGGCGCGGTGGCTCACGCCTG
TAGTCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAG
ATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATA
CAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGG
GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGT
GAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGC
GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
AAAAAAAAAAAAAAAAAAAAAAGTGTGTGTATTG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8441930
chr1:8441930 T
T
 TCAATACA
others(353): Show 
TCAATACACACACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA
GGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCG
CTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGA
CTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGA
GACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCAT
GATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGCCA
CCGCGCCCGGC
 1 a0001c0001t0037g0196
a0001c0001t0037g0196
 1 HG01517.hp2
HG01517.hp2
 intron_variant MODIFIER c.1204-19124_1204-19
others(366): Show 
c.1204-19124_1204-19123insGCCGGGCGCGGTGGCTCACGCCTG
TAGTCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAG
ATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATA
CAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGG
GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGT
GAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGC
GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
AAAAAAAAAAAAAAAAAAAAAAAAGTGTGTGTATTG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8441930
chr1:8441930 T
T
 TCAATACA
others(356): Show 
TCAATACACACACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC
CCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCT
CCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTG
GGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGT
AGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCT
CATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGACTACAGGCGTGAG
CCACCGCGCCCGGC
 1 a0001c0001t0038g0195
a0001c0001t0038g0195
 1 HG01515.hp1
HG01515.hp1
 intron_variant MODIFIER c.1204-19124_1204-19
others(369): Show 
c.1204-19124_1204-19123insGCCGGGCGCGGTGGCTCACGCCTG
TAGTCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAG
ATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATA
CAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGG
GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGT
GAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGC
GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
AAAAAAAAAAAAAAAAAAAAAAAAAAAGTGTGTGTATTG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8441930
chr1:8441930 T
T
 TCAATACA
others(359): Show 
TCAATACACACACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT
CGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAA
GCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAG
CTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTT
AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGA
CCTCATGATCCACCCGCCTCGGCCTCCCAGAGTGCTGGGACTACAGGCGT
GAGCCACCGCGCCCGGC
 1 a0001c0004t0006g0146
a0001c0004t0006g0146
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.1204-19124_1204-19
others(372): Show 
c.1204-19124_1204-19123insGCCGGGCGCGGTGGCTCACGCCTG
TAGTCCCAGCACTCTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAG
ATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATA
CAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGG
GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGT
GAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGC
GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTGTGTGTATTG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8441930
chr1:8441930 T
T
 TCAATACA
others(367): Show 
TCAATACACACACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT
CGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCT
CACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC
CCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTT
GTATTTTTAGTACAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGA
TCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGACT
ACAGGCGTGAGCCACCGCGCCCGGC
 1 a0002c0006t0003g0094
a0002c0006t0003g0094
 1 NA19074.hp2
NA19074.hp2
 intron_variant MODIFIER c.1204-19124_1204-19
others(380): Show 
c.1204-19124_1204-19123insGCCGGGCGCGGTGGCTCACGCCTG
TAGTCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAG
ATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTGTACTAAAAATA
CAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGG
GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGT
GAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGC
GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTGTGTGTATTG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8441930
chr1:8442065 A
A
 G
G
 1 a0001c0001t0003g0122
a0001c0001t0003g0122
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.1204-19258T>C
c.1204-19258T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8442065
chr1:8442078 T
T
 C
C
 3 a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0022g0121
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0022g0121
 3 HG01167.hp1
HG02257.hp1
HG03453.hp2
HG01167.hp1
HG02257.hp1
HG03453.hp2
 intron_variant MODIFIER c.1204-19271A>G
c.1204-19271A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8442078
chr1:8442106 C
C
 T
T
 1 a0001c0011t0007g0027
a0001c0011t0007g0027
 1 HG02723.hp2
HG02723.hp2
 intron_variant MODIFIER c.1204-19299G>A
c.1204-19299G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8442106
chr1:8442206 G
G
 A
A
 1 a0001c0003t0012g0018
a0001c0003t0012g0018
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.1204-19399C>T
c.1204-19399C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8442206
chr1:8442386 T
T
 TA
TA
 16 a0001c0001t0001g0033
a0001c0001t0001g0067
a0001c0001t0001g0075
others(13): Show 
a0001c0001t0001g0033
a0001c0001t0001g0067
a0001c0001t0001g0075
a0001c0001t0016g0054
a0001c0001t0037g0196
a0001c0003t0004g0078
a0001c0003t0012g0018
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0026g0127
a0001c0011t0007g0027
a0001c0011t0007g0028
a0005c0013t0021g0023
 16 HG01517.hp2
HG01884.hp2
HG02109.hp1
others(13): Show 
HG01517.hp2
HG01884.hp2
HG02109.hp1
HG02257.hp2
HG02293.hp1
HG02451.hp2
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG03209.hp1
HG03471.hp1
HG03516.hp1
HG03831.hp2
NA18967.hp1
NA19009.hp2
NA21309.hp1
 intron_variant MODIFIER c.1204-19580dupT
c.1204-19580dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8442386
chr1:8442386 TA
TA
 T
T
 8 a0001c0001t0001g0048
a0001c0001t0001g0060
a0001c0001t0001g0063
others(5): Show 
a0001c0001t0001g0048
a0001c0001t0001g0060
a0001c0001t0001g0063
a0001c0002t0002g0171
a0001c0002t0006g0145
a0001c0004t0010g0120
a0004c0012t0008g0138
a0008c0017t0003g0101
 8 HG00140.hp2
HG01167.hp1
HG01515.hp2
others(5): Show 
HG00140.hp2
HG01167.hp1
HG01515.hp2
HG02486.hp2
HG02976.hp2
HG03491.hp1
NA19085.hp2
NA20905.hp2
 intron_variant MODIFIER c.1204-19580delT
c.1204-19580delT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8442386
chr1:8442502 A
A
 T
T
 1 a0001c0003t0012g0022
a0001c0003t0012g0022
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.1204-19695T>A
c.1204-19695T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8442502
chr1:8442873 G
G
 C
C
 1 a0001c0002t0018g0002
a0001c0002t0018g0002
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.1204-20066C>G
c.1204-20066C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8442873
chr1:8442891 G
G
 A
A
 1 a0001c0005t0009g0201
a0001c0005t0009g0201
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.1204-20084C>T
c.1204-20084C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8442891
chr1:8443182 G
G
 A
A
 32 a0001c0001t0001g0037
a0001c0003t0004g0007
a0001c0003t0004g0010
others(29): Show 
a0001c0001t0001g0037
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0005t0019g0030
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0015t0001g0009
a0001c0016t0020g0001
a0002c0026t0008g0140
a0004c0012t0008g0137
a0004c0012t0008g0138
 32 HG00140.hp1
HG00544.hp2
HG00639.hp2
others(29): Show 
HG00140.hp1
HG00544.hp2
HG00639.hp2
HG00741.hp2
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG01358.hp2
HG01934.hp1
HG01981.hp1
HG02074.hp1
HG02258.hp2
HG02280.hp2
HG02622.hp2
HG02683.hp2
HG02698.hp1
HG02896.hp1
HG02976.hp2
HG03130.hp2
HG03195.hp1
HG03654.hp2
HG04115.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18946.hp1
NA18973.hp1
NA18993.hp1
NA19009.hp2
NA19043.hp2
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1204-20375C>T
c.1204-20375C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8443182
chr1:8443317 C
C
 G
G
 2 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0002t0002g0157
a0001c0002t0032g0155
 2 HG03130.hp1
HG03579.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.1204-20510G>C
c.1204-20510G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8443317
chr1:8443319 C
C
 A
A
 102 a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0037
others(99): Show 
a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0007c0020t0039g0197
a0009c0021t0003g0135
 102 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(99): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01934.hp1
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp2
HG03491.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1204-20512G>T
c.1204-20512G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8443319
chr1:8443319 C
C
 T
T
 1 a0002c0006t0003g0097
a0002c0006t0003g0097
 1 NA18944.hp2
NA18944.hp2
 intron_variant MODIFIER c.1204-20512G>A
c.1204-20512G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8443319
chr1:8443459 G
G
 GA
GA
 76 a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0037
others(73): Show 
a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0002g0168
a0001c0002t0002g0173
a0001c0002t0002g0176
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0012
a0001c0003t0004g0017
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0005t0019g0030
a0001c0005t0034g0156
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0002c0006t0003g0139
a0002c0026t0008g0140
a0004c0012t0008g0137
a0004c0012t0008g0138
a0009c0021t0003g0135
 76 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(73): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp1
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01934.hp1
HG01981.hp1
HG02004.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02622.hp1
HG02622.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02896.hp1
HG02976.hp2
HG03130.hp2
HG03195.hp1
HG03225.hp2
HG03491.hp2
HG03579.hp1
HG03654.hp2
HG03688.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1204-20653dupT
c.1204-20653dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8443459
chr1:8443459 G
G
 GAA
GAA
 8 a0001c0001t0001g0066
a0001c0001t0001g0074
a0001c0003t0004g0011
others(5): Show 
a0001c0001t0001g0066
a0001c0001t0001g0074
a0001c0003t0004g0011
a0001c0003t0004g0019
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
 8 HG02027.hp1
HG02647.hp1
HG02970.hp1
others(5): Show 
HG02027.hp1
HG02647.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03139.hp2
NA18946.hp1
NA18973.hp1
 intron_variant MODIFIER c.1204-20654_1204-20
others(8): Show 
c.1204-20654_1204-20653dupTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8443459
chr1:8443459 GA
GA
 G
G
 40 a0001c0001t0001g0013
a0001c0001t0001g0033
a0001c0001t0003g0087
others(37): Show 
a0001c0001t0001g0013
a0001c0001t0001g0033
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0122
a0001c0001t0003g0141
a0001c0001t0006g0181
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0189
a0001c0002t0005g0125
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0019t0014g0119
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0005c0013t0021g0023
a0005c0013t0029g0111
a0008c0017t0003g0101
 40 HG00544.hp1
HG00597.hp1
HG00609.hp1
others(37): Show 
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG01168.hp1
HG01192.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG02132.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02602.hp2
HG02683.hp1
HG02735.hp2
HG03041.hp1
HG03195.hp2
HG03453.hp1
HG03471.hp1
HG03669.hp1
HG03688.hp2
HG03831.hp1
HG04115.hp1
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.1204-20653delT
c.1204-20653delT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8443459
chr1:8443459 GAA
GAA
 G
G
 16 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(13): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0026g0127
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0006c0025t0007g0025
a0007c0020t0039g0197
 16 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(13): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp2
HG02647.hp2
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02965.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG03540.hp2
HG06807.hp1
NA21309.hp1
 intron_variant MODIFIER c.1204-20654_1204-20
others(8): Show 
c.1204-20654_1204-20653delTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8443459
chr1:8443756 C
C
 G
G
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.1204-20949G>C
c.1204-20949G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8443756
chr1:8443847 T
T
 C
C
 4 a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
others(1): Show 
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
 4 HG02647.hp1
HG02970.hp1
HG03041.hp2
others(1): Show 
HG02647.hp1
HG02970.hp1
HG03041.hp2
HG03139.hp2
 intron_variant MODIFIER c.1204-21040A>G
c.1204-21040A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8443847
chr1:8443875 TGGCAGCC
others(8): Show 
TGGCAGCCTCTGCCAA
 T
T
 42 a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0038
others(39): Show 
a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0018t0001g0005
a0002c0006t0003g0139
a0009c0021t0003g0135
 42 HG00140.hp2
HG00280.hp1
HG00597.hp2
others(39): Show 
HG00140.hp2
HG00280.hp1
HG00597.hp2
HG00609.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02486.hp2
HG02523.hp1
HG02698.hp2
HG03491.hp2
HG03688.hp1
HG03831.hp2
HG04184.hp2
HG04199.hp2
NA18944.hp1
NA18964.hp2
NA18967.hp1
NA18983.hp2
NA18985.hp2
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp1
 intron_variant MODIFIER c.1204-21083_1204-21
others(21): Show 
c.1204-21083_1204-21069delTTGGCAGAGGCTGCC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8443875
chr1:8443972 G
G
 A
A
 1 a0001c0002t0002g0166
a0001c0002t0002g0166
 1 NA19070.hp1
NA19070.hp1
 intron_variant MODIFIER c.1204-21165C>T
c.1204-21165C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8443972
chr1:8444185 G
G
 A
A
 1 a0001c0005t0009g0204
a0001c0005t0009g0204
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.1204-21378C>T
c.1204-21378C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8444185
chr1:8444275 T
T
 C
C
 1 a0001c0004t0010g0142
a0001c0004t0010g0142
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.1204-21468A>G
c.1204-21468A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8444275
chr1:8444361 C
C
 A
A
 82 a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0037
others(79): Show 
a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0005t0019g0030
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0009c0021t0003g0135
 82 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(79): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01934.hp1
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02622.hp2
HG02647.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02896.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03225.hp2
HG03491.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1204-21554G>T
c.1204-21554G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8444361
chr1:8444386 C
C
 T
T
 1 a0001c0001t0001g0069
a0001c0001t0001g0069
 1 NA19000.hp2
NA19000.hp2
 intron_variant MODIFIER c.1203+21539G>A
c.1203+21539G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8444386
chr1:8444506 A
A
 C
C
 1 a0001c0001t0001g0065
a0001c0001t0001g0065
 1 HG02080.hp1
HG02080.hp1
 intron_variant MODIFIER c.1203+21419T>G
c.1203+21419T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8444506
chr1:8444612 A
A
 G
G
 1 a0001c0002t0002g0150
a0001c0002t0002g0150
 1 HG01981.hp2
HG01981.hp2
 intron_variant MODIFIER c.1203+21313T>C
c.1203+21313T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8444612
chr1:8444750 T
T
 C
C
 1 a0001c0002t0005g0125
a0001c0002t0005g0125
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.1203+21175A>G
c.1203+21175A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8444750
chr1:8444772 CTTCTTCC
others(16): Show 
CTTCTTCCACCATGTGATGTGGTG
 C
C
 2 a0005c0013t0021g0023
a0005c0013t0029g0111
a0005c0013t0021g0023
a0005c0013t0029g0111
 2 HG03041.hp1
HG03471.hp1
HG03041.hp1
HG03471.hp1
 intron_variant MODIFIER c.1203+21130_1203+21
others(29): Show 
c.1203+21130_1203+21152delCACCACATCACATGGTGGAAGAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8444772
chr1:8444778 C
C
 T
T
 1 a0001c0002t0002g0162
a0001c0002t0002g0162
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.1203+21147G>A
c.1203+21147G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8444778
chr1:8444782 C
C
 A
A
 3 a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0022g0121
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0022g0121
 3 HG01167.hp1
HG02257.hp1
HG03453.hp2
HG01167.hp1
HG02257.hp1
HG03453.hp2
 intron_variant MODIFIER c.1203+21143G>T
c.1203+21143G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8444782
chr1:8444854 T
T
 C
C
 1 a0001c0004t0010g0142
a0001c0004t0010g0142
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.1203+21071A>G
c.1203+21071A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8444854
chr1:8444920 TA
TA
 T
T
 12 a0001c0001t0003g0100
a0001c0002t0002g0163
a0001c0002t0002g0166
others(9): Show 
a0001c0001t0003g0100
a0001c0002t0002g0163
a0001c0002t0002g0166
a0001c0003t0004g0014
a0001c0004t0003g0109
a0001c0004t0010g0142
a0001c0010t0007g0026
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0006c0025t0007g0025
 12 HG01358.hp2
HG02280.hp1
HG02451.hp1
others(9): Show 
HG01358.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02647.hp2
HG02723.hp2
HG02809.hp2
HG03540.hp2
HG03579.hp2
NA19007.hp2
NA19070.hp1
NA21309.hp2
 intron_variant MODIFIER c.1203+21004delT
c.1203+21004delT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8444920
chr1:8444998 G
G
 A
A
 89 a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0037
others(86): Show 
a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0022g0121
a0001c0005t0019g0030
a0001c0005t0034g0156
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0009c0021t0003g0135
 89 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(86): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01934.hp1
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02896.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp2
HG03491.hp2
HG03579.hp1
HG03654.hp2
HG03688.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1203+20927C>T
c.1203+20927C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8444998
chr1:8445066 A
A
 G
G
 1 a0001c0004t0010g0142
a0001c0004t0010g0142
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.1203+20859T>C
c.1203+20859T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8445066
chr1:8445468 C
C
 A
A
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.1203+20457G>T
c.1203+20457G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8445468
chr1:8445471 C
C
 T
T
 1 a0001c0003t0008g0105
a0001c0003t0008g0105
 1 HG00741.hp2
HG00741.hp2
 intron_variant MODIFIER c.1203+20454G>A
c.1203+20454G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8445471
chr1:8445638 A
A
 G
G
 2 a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0056
a0001c0001t0001g0057
 2 HG01167.hp2
HG01169.hp2
HG01167.hp2
HG01169.hp2
 intron_variant MODIFIER c.1203+20287T>C
c.1203+20287T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8445638
chr1:8445783 T
T
 C
C
 1 a0001c0024t0002g0182
a0001c0024t0002g0182
 1 HG02896.hp2
HG02896.hp2
 intron_variant MODIFIER c.1203+20142A>G
c.1203+20142A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8445783
chr1:8446000 C
C
 T
T
 1 a0001c0001t0001g0050
a0001c0001t0001g0050
 1 NA19005.hp1
NA19005.hp1
 intron_variant MODIFIER c.1203+19925G>A
c.1203+19925G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8446000
chr1:8446289 A
A
 AAACATTT
others(114): Show 
AAACATTTTTTCTTTCATTTCAACCTTGGTGAATCTGAAGATTACGTGTC
TTGGGGTTACTCTTCTCATCTGATATGGGCTTCCCTTTGTGGGTAACCTG
ACCTTTCTCTCTGGCTGCCCTT
 2 a0005c0013t0021g0023
a0005c0013t0029g0111
a0005c0013t0021g0023
a0005c0013t0029g0111
 2 HG03041.hp1
HG03471.hp1
HG03041.hp1
HG03471.hp1
 intron_variant MODIFIER c.1203+19515_1203+19
others(127): Show 
c.1203+19515_1203+19635dupAAGGGCAGCCAGAGAGAAAGGTCA
GGTTACCCACAAAGGGAAGCCCATATCAGATGAGAAGAGTAACCCCAAGA
CACGTAATCTTCAGATTCACCAAGGTTGAAATGAAAGAAAAAATGTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8446289
chr1:8446336 G
G
 A
A
 2 a0001c0004t0014g0126
a0001c0019t0014g0119
a0001c0004t0014g0126
a0001c0019t0014g0119
 2 HG02965.hp2
HG03195.hp2
HG02965.hp2
HG03195.hp2
 intron_variant MODIFIER c.1203+19589C>T
c.1203+19589C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8446336
chr1:8446367 G
G
 A
A
 1 a0001c0004t0003g0109
a0001c0004t0003g0109
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.1203+19558C>T
c.1203+19558C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8446367
chr1:8446474 C
C
 T
T
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.1203+19451G>A
c.1203+19451G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8446474
chr1:8446627 C
C
 T
T
 1 a0001c0001t0016g0054
a0001c0001t0016g0054
 1 HG02293.hp1
HG02293.hp1
 intron_variant MODIFIER c.1203+19298G>A
c.1203+19298G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8446627
chr1:8446714 A
A
 G
G
 195 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(192): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0157
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0193
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0002t0035g0160
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0023t0002g0175
a0001c0024t0002g0182
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 195 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(192): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp1
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1203+19211T>C
c.1203+19211T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8446714
chr1:8446840 A
A
 AT
AT
 9 a0001c0003t0012g0018
a0001c0004t0003g0109
a0001c0004t0010g0107
others(6): Show 
a0001c0003t0012g0018
a0001c0004t0003g0109
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0009t0041g0198
a0001c0019t0014g0119
 9 HG01167.hp1
HG02145.hp1
HG02257.hp1
others(6): Show 
HG01167.hp1
HG02145.hp1
HG02257.hp1
HG02622.hp2
HG02965.hp2
HG03195.hp2
HG03453.hp2
HG03579.hp2
NA21309.hp2
 intron_variant MODIFIER c.1203+19084dupA
c.1203+19084dupA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8446840
chr1:8446921 C
C
 T
T
 1 a0001c0003t0004g0011
a0001c0003t0004g0011
 1 NA18946.hp1
NA18946.hp1
 intron_variant MODIFIER c.1203+19004G>A
c.1203+19004G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8446921
chr1:8446960 T
T
 C
C
 9 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(6): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0026g0127
a0001c0009t0041g0198
a0007c0020t0039g0197
 9 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(6): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
NA21309.hp1
 intron_variant MODIFIER c.1203+18965A>G
c.1203+18965A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8446960
chr1:8447145 G
G
 T
T
 2 a0001c0004t0014g0126
a0001c0019t0014g0119
a0001c0004t0014g0126
a0001c0019t0014g0119
 2 HG02965.hp2
HG03195.hp2
HG02965.hp2
HG03195.hp2
 intron_variant MODIFIER c.1203+18780C>A
c.1203+18780C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8447145
chr1:8447409 G
G
 T
T
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.1203+18516C>A
c.1203+18516C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8447409
chr1:8447516 C
C
 T
T
 9 a0001c0001t0001g0015
a0001c0001t0001g0056
a0001c0001t0001g0057
others(6): Show 
a0001c0001t0001g0015
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
 9 HG00140.hp2
HG00280.hp1
HG01167.hp2
others(6): Show 
HG00140.hp2
HG00280.hp1
HG01167.hp2
HG01169.hp2
HG01261.hp1
HG01496.hp2
HG02258.hp1
HG02486.hp2
NA20300.hp1
 intron_variant MODIFIER c.1203+18409G>A
c.1203+18409G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8447516
chr1:8447713 G
G
 A
A
 35 a0001c0001t0001g0013
a0001c0001t0003g0087
a0001c0001t0003g0088
others(32): Show 
a0001c0001t0001g0013
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0141
a0001c0001t0006g0181
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 35 HG00544.hp1
HG00597.hp1
HG00609.hp1
others(32): Show 
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG01175.hp2
HG01192.hp2
HG01433.hp2
HG01496.hp1
HG01517.hp2
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02523.hp2
HG02602.hp2
HG02683.hp1
HG02735.hp2
HG03669.hp1
HG03688.hp2
HG03831.hp1
HG04115.hp1
HG04228.hp2
NA18944.hp2
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.1203+18212C>T
c.1203+18212C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8447713
chr1:8447928 T
T
 C
C
 1 a0001c0001t0001g0004
a0001c0001t0001g0004
 1 NA19074.hp1
NA19074.hp1
 intron_variant MODIFIER c.1203+17997A>G
c.1203+17997A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8447928
chr1:8448126 G
G
 A
A
 4 a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0022g0121
others(1): Show 
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0022g0121
a0001c0004t0027g0106
 4 HG01167.hp1
HG02257.hp1
HG02886.hp2
others(1): Show 
HG01167.hp1
HG02257.hp1
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.1203+17799C>T
c.1203+17799C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8448126
chr1:8448141 G
G
 A
A
 4 a0001c0001t0001g0076
a0001c0001t0003g0088
a0001c0001t0003g0093
others(1): Show 
a0001c0001t0001g0076
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0006g0184
 4 HG01496.hp1
NA18944.hp1
NA18964.hp1
others(1): Show 
HG01496.hp1
NA18944.hp1
NA18964.hp1
NA19090.hp1
 intron_variant MODIFIER c.1203+17784C>T
c.1203+17784C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8448141
chr1:8448153 C
C
 T
T
 1 a0001c0002t0002g0166
a0001c0002t0002g0166
 1 NA19070.hp1
NA19070.hp1
 intron_variant MODIFIER c.1203+17772G>A
c.1203+17772G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8448153
chr1:8448164 G
G
 A
A
 4 a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0010g0120
others(1): Show 
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0022g0121
 4 HG01167.hp1
HG02257.hp1
HG03453.hp2
others(1): Show 
HG01167.hp1
HG02257.hp1
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.1203+17761C>T
c.1203+17761C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8448164
chr1:8448468 A
A
 G
G
 7 a0001c0001t0003g0122
a0001c0002t0002g0157
a0001c0004t0010g0142
others(4): Show 
a0001c0001t0003g0122
a0001c0002t0002g0157
a0001c0004t0010g0142
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0034g0156
 7 HG02109.hp1
HG02145.hp2
HG02257.hp2
others(4): Show 
HG02109.hp1
HG02145.hp2
HG02257.hp2
HG02622.hp1
HG03130.hp1
HG03209.hp1
HG03579.hp2
 intron_variant MODIFIER c.1203+17457T>C
c.1203+17457T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8448468
chr1:8448485 G
G
 A
A
 2 a0001c0003t0004g0035
a0001c0003t0015g0147
a0001c0003t0004g0035
a0001c0003t0015g0147
 2 HG00639.hp2
HG02280.hp2
HG00639.hp2
HG02280.hp2
 intron_variant MODIFIER c.1203+17440C>T
c.1203+17440C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8448485
chr1:8448573 A
A
 C
C
 4 a0001c0001t0001g0064
a0001c0001t0003g0100
a0001c0001t0003g0103
others(1): Show 
a0001c0001t0001g0064
a0001c0001t0003g0100
a0001c0001t0003g0103
a0001c0001t0003g0104
 4 HG00597.hp2
HG00609.hp1
NA19007.hp2
others(1): Show 
HG00597.hp2
HG00609.hp1
NA19007.hp2
NA19090.hp2
 intron_variant MODIFIER c.1203+17352T>G
c.1203+17352T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8448573
chr1:8448805 G
G
 A
A
 10 a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
others(7): Show 
a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0009c0021t0003g0135
 10 HG01175.hp2
HG01884.hp1
HG02109.hp2
others(7): Show 
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03225.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.1203+17120C>T
c.1203+17120C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8448805
chr1:8448868 A
A
 C
C
 1 a0001c0005t0026g0127
a0001c0005t0026g0127
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.1203+17057T>G
c.1203+17057T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8448868
chr1:8448903 T
T
 C
C
 1 a0001c0004t0022g0121
a0001c0004t0022g0121
 1 HG02257.hp1
HG02257.hp1
 intron_variant MODIFIER c.1203+17022A>G
c.1203+17022A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8448903
chr1:8449099 G
G
 A
A
 1 a0001c0004t0003g0109
a0001c0004t0003g0109
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.1203+16826C>T
c.1203+16826C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8449099
chr1:8449331 A
A
 G
G
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.1203+16594T>C
c.1203+16594T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8449331
chr1:8449498 C
C
 T
T
 2 a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0153
a0001c0001t0006g0154
 2 HG03225.hp2
NA20300.hp2
HG03225.hp2
NA20300.hp2
 intron_variant MODIFIER c.1203+16427G>A
c.1203+16427G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8449498
chr1:8449580 A
A
 G
G
 5 a0001c0001t0001g0074
a0003c0008t0001g0006
a0003c0008t0001g0031
others(2): Show 
a0001c0001t0001g0074
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
 5 HG02647.hp1
HG02970.hp1
HG02976.hp1
others(2): Show 
HG02647.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03139.hp2
 intron_variant MODIFIER c.1203+16345T>C
c.1203+16345T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8449580
chr1:8449598 C
C
 A
A
 1 a0002c0006t0003g0091
a0002c0006t0003g0091
 1 NA19002.hp2
NA19002.hp2
 intron_variant MODIFIER c.1203+16327G>T
c.1203+16327G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8449598
chr1:8449704 T
T
 C
C
 4 a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0005t0019g0030
others(1): Show 
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0005t0019g0030
a0001c0016t0020g0001
 4 HG02683.hp2
HG03130.hp2
HG06807.hp2
others(1): Show 
HG02683.hp2
HG03130.hp2
HG06807.hp2
NA20129.hp2
 intron_variant MODIFIER c.1203+16221A>G
c.1203+16221A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8449704
chr1:8450195 T
T
 C
C
 3 a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
 3 HG02109.hp1
HG02257.hp2
HG03209.hp1
HG02109.hp1
HG02257.hp2
HG03209.hp1
 intron_variant MODIFIER c.1203+15730A>G
c.1203+15730A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8450195
chr1:8450373 A
A
 G
G
 1 a0001c0002t0002g0173
a0001c0002t0002g0173
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.1203+15552T>C
c.1203+15552T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8450373
chr1:8450381 T
T
 G
G
 5 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0014g0126
others(2): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0014g0126
a0001c0005t0026g0127
a0001c0005t0034g0156
 5 HG02622.hp1
HG02965.hp2
HG03130.hp1
others(2): Show 
HG02622.hp1
HG02965.hp2
HG03130.hp1
HG03579.hp1
NA21309.hp1
 intron_variant MODIFIER c.1203+15544A>C
c.1203+15544A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8450381
chr1:8450517 T
T
 C
C
 87 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(84): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0006c0025t0007g0025
 87 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(84): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1203+15408A>G
c.1203+15408A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8450517
chr1:8450535 T
T
 C
C
 163 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(160): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 163 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(160): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1203+15390A>G
c.1203+15390A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8450535
chr1:8450648 C
C
 A
A
 2 a0001c0004t0040g0199
a0007c0020t0039g0197
a0001c0004t0040g0199
a0007c0020t0039g0197
 2 HG02970.hp2
HG06807.hp1
HG02970.hp2
HG06807.hp1
 intron_variant MODIFIER c.1203+15277G>T
c.1203+15277G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8450648
chr1:8450720 G
G
 A
A
 1 a0001c0002t0002g0163
a0001c0002t0002g0163
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.1203+15205C>T
c.1203+15205C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8450720
chr1:8450854 C
C
 T
T
 3 a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
 3 HG02145.hp1
HG02970.hp2
HG06807.hp1
HG02145.hp1
HG02970.hp2
HG06807.hp1
 intron_variant MODIFIER c.1203+15071G>A
c.1203+15071G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8450854
chr1:8450953 C
C
 T
T
 3 a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
 3 HG02559.hp1
HG02965.hp2
HG03579.hp2
HG02559.hp1
HG02965.hp2
HG03579.hp2
 intron_variant MODIFIER c.1203+14972G>A
c.1203+14972G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8450953
chr1:8451112 C
C
 A
A
 1 a0001c0022t0008g0082
a0001c0022t0008g0082
 1 HG00280.hp2
HG00280.hp2
 intron_variant MODIFIER c.1203+14813G>T
c.1203+14813G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8451112
chr1:8451119 G
G
 C
C
 1 a0002c0006t0003g0091
a0002c0006t0003g0091
 1 NA19002.hp2
NA19002.hp2
 intron_variant MODIFIER c.1203+14806C>G
c.1203+14806C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8451119
chr1:8451441 C
C
 CA
CA
 90 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(87): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0002g0158
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0006c0025t0007g0025
 90 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(87): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03453.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1203+14483dupT
c.1203+14483dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8451441
chr1:8451815 C
C
 T
T
 2 a0001c0004t0040g0199
a0007c0020t0039g0197
a0001c0004t0040g0199
a0007c0020t0039g0197
 2 HG02970.hp2
HG06807.hp1
HG02970.hp2
HG06807.hp1
 intron_variant MODIFIER c.1203+14110G>A
c.1203+14110G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8451815
chr1:8452043 A
A
 T
T
 1 a0001c0001t0001g0045
a0001c0001t0001g0045
 1 NA19002.hp1
NA19002.hp1
 intron_variant MODIFIER c.1203+13882T>A
c.1203+13882T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8452043
chr1:8452238 C
C
 A
A
 1 a0001c0001t0001g0045
a0001c0001t0001g0045
 1 NA19002.hp1
NA19002.hp1
 intron_variant MODIFIER c.1203+13687G>T
c.1203+13687G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8452238
chr1:8452523 CAAT
CAAT
 C
C
 9 a0001c0001t0001g0015
a0001c0001t0001g0056
a0001c0001t0001g0057
others(6): Show 
a0001c0001t0001g0015
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
 9 HG00140.hp2
HG00280.hp1
HG01167.hp2
others(6): Show 
HG00140.hp2
HG00280.hp1
HG01167.hp2
HG01169.hp2
HG01261.hp1
HG01496.hp2
HG02258.hp1
HG02486.hp2
NA20300.hp1
 intron_variant MODIFIER c.1203+13399_1203+13
others(9): Show 
c.1203+13399_1203+13401delATT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8452523
chr1:8452569 A
A
 T
T
 1 a0001c0001t0006g0170
a0001c0001t0006g0170
 1 HG02698.hp2
HG02698.hp2
 intron_variant MODIFIER c.1203+13356T>A
c.1203+13356T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8452569
chr1:8452669 G
G
 A
A
 1 a0001c0002t0002g0169
a0001c0002t0002g0169
 1 HG02132.hp2
HG02132.hp2
 intron_variant MODIFIER c.1203+13256C>T
c.1203+13256C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8452669
chr1:8452726 A
A
 G
G
 1 a0001c0002t0002g0192
a0001c0002t0002g0192
 1 HG01175.hp1
HG01175.hp1
 intron_variant MODIFIER c.1203+13199T>C
c.1203+13199T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8452726
chr1:8452774 A
A
 G
G
 1 a0001c0001t0023g0113
a0001c0001t0023g0113
 1 HG00544.hp1
HG00544.hp1
 intron_variant MODIFIER c.1203+13151T>C
c.1203+13151T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8452774
chr1:8452885 C
C
 T
T
 1 a0001c0003t0012g0022
a0001c0003t0012g0022
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.1203+13040G>A
c.1203+13040G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8452885
chr1:8452909 G
G
 A
A
 1 a0001c0001t0003g0087
a0001c0001t0003g0087
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.1203+13016C>T
c.1203+13016C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8452909
chr1:8453698 G
G
 T
T
 1 a0001c0002t0002g0174
a0001c0002t0002g0174
 1 NA18946.hp2
NA18946.hp2
 intron_variant MODIFIER c.1203+12227C>A
c.1203+12227C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8453698
chr1:8453808 C
C
 CA
CA
 96 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(93): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0118
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0002t0002g0157
a0001c0002t0002g0158
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0004t0014g0126
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0006c0025t0007g0025
 96 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(93): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03453.hp1
HG03491.hp2
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1203+12116dupT
c.1203+12116dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8453808
chr1:8453817 A
A
 T
T
 1 a0001c0002t0002g0169
a0001c0002t0002g0169
 1 HG02132.hp2
HG02132.hp2
 intron_variant MODIFIER c.1203+12108T>A
c.1203+12108T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8453817
chr1:8453818 T
T
 A
A
 4 a0001c0002t0005g0110
a0001c0004t0003g0109
a0005c0013t0021g0023
others(1): Show 
a0001c0002t0005g0110
a0001c0004t0003g0109
a0005c0013t0021g0023
a0005c0013t0029g0111
 4 HG02723.hp1
HG03041.hp1
HG03471.hp1
others(1): Show 
HG02723.hp1
HG03041.hp1
HG03471.hp1
NA21309.hp2
 intron_variant MODIFIER c.1203+12107A>T
c.1203+12107A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8453818
chr1:8453822 T
T
 G
G
 1 a0001c0001t0001g0065
a0001c0001t0001g0065
 1 HG02080.hp1
HG02080.hp1
 intron_variant MODIFIER c.1203+12103A>C
c.1203+12103A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8453822
chr1:8454004 A
A
 G
G
 2 a0001c0001t0001g0048
a0001c0001t0001g0070
a0001c0001t0001g0048
a0001c0001t0001g0070
 2 NA19009.hp1
NA19085.hp2
NA19009.hp1
NA19085.hp2
 intron_variant MODIFIER c.1203+11921T>C
c.1203+11921T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8454004
chr1:8454312 A
A
 C
C
 2 a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0002t0018g0002
a0001c0004t0010g0142
 2 HG02559.hp1
HG03579.hp2
HG02559.hp1
HG03579.hp2
 intron_variant MODIFIER c.1203+11613T>G
c.1203+11613T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8454312
chr1:8454387 A
A
 AT
AT
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.1203+11537dupA
c.1203+11537dupA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8454387
chr1:8454426 C
C
 T
T
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.1203+11499G>A
c.1203+11499G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8454426
chr1:8454540 C
C
 T
T
 2 a0001c0004t0014g0126
a0001c0005t0026g0127
a0001c0004t0014g0126
a0001c0005t0026g0127
 2 HG02965.hp2
NA21309.hp1
HG02965.hp2
NA21309.hp1
 intron_variant MODIFIER c.1203+11385G>A
c.1203+11385G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8454540
chr1:8454650 C
C
 T
T
 5 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0014g0126
others(2): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0014g0126
a0001c0005t0026g0127
a0001c0005t0034g0156
 5 HG02622.hp1
HG02965.hp2
HG03130.hp1
others(2): Show 
HG02622.hp1
HG02965.hp2
HG03130.hp1
HG03579.hp1
NA21309.hp1
 intron_variant MODIFIER c.1203+11275G>A
c.1203+11275G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8454650
chr1:8454663 G
G
 A
A
 1 a0001c0002t0005g0114
a0001c0002t0005g0114
 1 HG02004.hp1
HG02004.hp1
 intron_variant MODIFIER c.1203+11262C>T
c.1203+11262C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8454663
chr1:8454736 T
T
 C
C
 164 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(161): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 164 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(161): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1203+11189A>G
c.1203+11189A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8454736
chr1:8454784 G
G
 A
A
 4 a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0014
others(1): Show 
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0014
a0001c0003t0004g0036
 4 HG01358.hp2
HG02698.hp1
HG03654.hp2
others(1): Show 
HG01358.hp2
HG02698.hp1
HG03654.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1203+11141C>T
c.1203+11141C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8454784
chr1:8454827 C
C
 CA
CA
 16 a0001c0001t0001g0067
a0001c0001t0003g0122
a0001c0002t0005g0128
others(13): Show 
a0001c0001t0001g0067
a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0004t0022g0121
a0001c0007t0001g0008
a0001c0023t0002g0175
a0009c0021t0003g0135
a0010c0027t0003g0086
 16 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(13): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03225.hp1
HG03471.hp2
HG03831.hp1
HG03831.hp2
NA18906.hp2
NA18939.hp2
NA18985.hp1
 intron_variant MODIFIER c.1203+11097dupT
c.1203+11097dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8454827
chr1:8454829 A
A
 AC
AC
 2 a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0153
a0001c0001t0006g0154
 2 HG03225.hp2
NA20300.hp2
HG03225.hp2
NA20300.hp2
 intron_variant MODIFIER c.1203+11095_1203+11
others(7): Show 
c.1203+11095_1203+11096insG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8454829
chr1:8454830 A
A
 C
C
 5 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0014g0126
others(2): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0014g0126
a0001c0005t0026g0127
a0001c0005t0034g0156
 5 HG02622.hp1
HG02965.hp2
HG03130.hp1
others(2): Show 
HG02622.hp1
HG02965.hp2
HG03130.hp1
HG03579.hp1
NA21309.hp1
 intron_variant MODIFIER c.1203+11095T>G
c.1203+11095T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8454830
chr1:8454837 C
C
 A
A
 164 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(161): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 164 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(161): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1203+11088G>T
c.1203+11088G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8454837
chr1:8454838 C
C
 A
A
 1 a0001c0001t0003g0104
a0001c0001t0003g0104
 1 HG00609.hp1
HG00609.hp1
 intron_variant MODIFIER c.1203+11087G>T
c.1203+11087G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8454838
chr1:8454880 T
T
 C
C
 3 a0001c0002t0002g0165
a0001c0002t0002g0176
a0001c0023t0002g0175
a0001c0002t0002g0165
a0001c0002t0002g0176
a0001c0023t0002g0175
 3 NA18939.hp2
NA18967.hp2
NA19085.hp1
NA18939.hp2
NA18967.hp2
NA19085.hp1
 intron_variant MODIFIER c.1203+11045A>G
c.1203+11045A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8454880
chr1:8454894 C
C
 T
T
 1 a0001c0002t0005g0116
a0001c0002t0005g0116
 1 HG00639.hp1
HG00639.hp1
 intron_variant MODIFIER c.1203+11031G>A
c.1203+11031G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8454894
chr1:8454990 C
C
 T
T
 164 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(161): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 164 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(161): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1203+10935G>A
c.1203+10935G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8454990
chr1:8455001 C
C
 T
T
 1 a0001c0010t0013g0024
a0001c0010t0013g0024
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.1203+10924G>A
c.1203+10924G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8455001
chr1:8455153 G
G
 A
A
 5 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0014g0126
others(2): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0014g0126
a0001c0005t0026g0127
a0001c0005t0034g0156
 5 HG02622.hp1
HG02965.hp2
HG03130.hp1
others(2): Show 
HG02622.hp1
HG02965.hp2
HG03130.hp1
HG03579.hp1
NA21309.hp1
 intron_variant MODIFIER c.1203+10772C>T
c.1203+10772C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8455153
chr1:8455212 G
G
 A
A
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.1203+10713C>T
c.1203+10713C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8455212
chr1:8455304 A
A
 C
C
 14 a0001c0001t0003g0122
a0001c0001t0006g0153
a0001c0001t0006g0154
others(11): Show 
a0001c0001t0003g0122
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0004t0022g0121
a0009c0021t0003g0135
 14 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(11): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp2
NA18906.hp2
NA20300.hp2
 intron_variant MODIFIER c.1203+10621T>G
c.1203+10621T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8455304
chr1:8455388 G
G
 A
A
 1 a0001c0003t0008g0085
a0001c0003t0008g0085
 1 HG01934.hp1
HG01934.hp1
 intron_variant MODIFIER c.1203+10537C>T
c.1203+10537C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8455388
chr1:8455410 C
C
 T
T
 1 a0001c0001t0001g0037
a0001c0001t0001g0037
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.1203+10515G>A
c.1203+10515G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8455410
chr1:8455452 C
C
 T
T
 2 a0002c0006t0024g0081
a0010c0027t0003g0086
a0002c0006t0024g0081
a0010c0027t0003g0086
 2 NA18985.hp1
NA19005.hp2
NA18985.hp1
NA19005.hp2
 intron_variant MODIFIER c.1203+10473G>A
c.1203+10473G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8455452
chr1:8455703 T
T
 C
C
 1 a0001c0001t0001g0073
a0001c0001t0001g0073
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.1203+10222A>G
c.1203+10222A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8455703
chr1:8455709 T
T
 G
G
 29 a0001c0001t0003g0122
a0001c0001t0006g0153
a0001c0001t0006g0154
others(26): Show 
a0001c0001t0003g0122
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0002t0002g0157
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0009t0041g0198
a0007c0020t0039g0197
a0009c0021t0003g0135
 29 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(26): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02559.hp1
HG02622.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02965.hp2
HG02970.hp2
HG03130.hp1
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG06807.hp1
NA18906.hp2
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1203+10216A>C
c.1203+10216A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8455709
chr1:8456086 C
C
 T
T
 1 a0001c0003t0008g0085
a0001c0003t0008g0085
 1 HG01934.hp1
HG01934.hp1
 intron_variant MODIFIER c.1203+9839G>A
c.1203+9839G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8456086
chr1:8456152 A
A
 G
G
 1 a0001c0003t0004g0078
a0001c0003t0004g0078
 1 NA19009.hp2
NA19009.hp2
 intron_variant MODIFIER c.1203+9773T>C
c.1203+9773T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8456152
chr1:8456178 G
G
 A
A
 15 a0001c0002t0002g0157
a0001c0002t0018g0002
a0001c0002t0032g0155
others(12): Show 
a0001c0002t0002g0157
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0009t0041g0198
a0007c0020t0039g0197
 15 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(12): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02559.hp1
HG02622.hp1
HG02818.hp1
HG02965.hp2
HG02970.hp2
HG03130.hp1
HG03209.hp1
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG06807.hp1
NA21309.hp1
 intron_variant MODIFIER c.1203+9747C>T
c.1203+9747C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8456178
chr1:8456222 A
A
 G
G
 4 a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0014
others(1): Show 
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0014
a0001c0003t0004g0036
 4 HG01358.hp2
HG02698.hp1
HG03654.hp2
others(1): Show 
HG01358.hp2
HG02698.hp1
HG03654.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1203+9703T>C
c.1203+9703T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8456222
chr1:8456328 G
G
 C
C
 165 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(162): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0002g0158
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 165 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(162): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1203+9597C>G
c.1203+9597C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8456328
chr1:8456338 A
A
 G
G
 3 a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
 3 HG02280.hp1
HG02451.hp2
HG02723.hp2
HG02280.hp1
HG02451.hp2
HG02723.hp2
 intron_variant MODIFIER c.1203+9587T>C
c.1203+9587T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8456338
chr1:8456444 A
A
 G
G
 10 a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
others(7): Show 
a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0009c0021t0003g0135
 10 HG01175.hp2
HG01884.hp1
HG02109.hp2
others(7): Show 
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03225.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.1203+9481T>C
c.1203+9481T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8456444
chr1:8456498 A
A
 G
G
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.1203+9427T>C
c.1203+9427T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8456498
chr1:8457360 T
T
 C
C
 1 a0001c0001t0001g0074
a0001c0001t0001g0074
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.1203+8565A>G
c.1203+8565A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8457360
chr1:8457798 G
G
 A
A
 2 a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0002t0018g0002
a0001c0004t0010g0142
 2 HG02559.hp1
HG03579.hp2
HG02559.hp1
HG03579.hp2
 intron_variant MODIFIER c.1203+8127C>T
c.1203+8127C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8457798
chr1:8457831 C
C
 A
A
 2 a0001c0004t0014g0126
a0001c0005t0026g0127
a0001c0004t0014g0126
a0001c0005t0026g0127
 2 HG02965.hp2
NA21309.hp1
HG02965.hp2
NA21309.hp1
 intron_variant MODIFIER c.1203+8094G>T
c.1203+8094G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8457831
chr1:8458069 C
C
 A
A
 2 a0001c0001t0001g0033
a0001c0002t0002g0163
a0001c0001t0001g0033
a0001c0002t0002g0163
 2 HG01884.hp2
HG02451.hp1
HG01884.hp2
HG02451.hp1
 intron_variant MODIFIER c.1203+7856G>T
c.1203+7856G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8458069
chr1:8458132 G
G
 C
C
 1 a0001c0001t0001g0037
a0001c0001t0001g0037
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.1203+7793C>G
c.1203+7793C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8458132
chr1:8458413 G
G
 A
A
 14 a0001c0001t0003g0122
a0001c0001t0006g0153
a0001c0001t0006g0154
others(11): Show 
a0001c0001t0003g0122
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0004t0022g0121
a0009c0021t0003g0135
 14 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(11): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp2
NA18906.hp2
NA20300.hp2
 intron_variant MODIFIER c.1203+7512C>T
c.1203+7512C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8458413
chr1:8458851 C
C
 T
T
 2 a0001c0004t0014g0126
a0001c0005t0026g0127
a0001c0004t0014g0126
a0001c0005t0026g0127
 2 HG02965.hp2
NA21309.hp1
HG02965.hp2
NA21309.hp1
 intron_variant MODIFIER c.1203+7074G>A
c.1203+7074G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8458851
chr1:8458895 C
C
 T
T
 5 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0014g0126
others(2): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0014g0126
a0001c0005t0026g0127
a0001c0005t0034g0156
 5 HG02622.hp1
HG02965.hp2
HG03130.hp1
others(2): Show 
HG02622.hp1
HG02965.hp2
HG03130.hp1
HG03579.hp1
NA21309.hp1
 intron_variant MODIFIER c.1203+7030G>A
c.1203+7030G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8458895
chr1:8459010 C
C
 T
T
 170 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(167): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0152
a0001c0002t0002g0157
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0177
a0001c0002t0002g0179
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 170 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(167): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1203+6915G>A
c.1203+6915G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8459010
chr1:8459045 T
T
 C
C
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.1203+6880A>G
c.1203+6880A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8459045
chr1:8459072 C
C
 T
T
 1 a0001c0002t0005g0110
a0001c0002t0005g0110
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.1203+6853G>A
c.1203+6853G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8459072
chr1:8459129 G
G
 A
A
 1 a0001c0001t0003g0115
a0001c0001t0003g0115
 1 HG00597.hp1
HG00597.hp1
 intron_variant MODIFIER c.1203+6796C>T
c.1203+6796C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8459129
chr1:8459489 T
T
 C
C
 1 a0001c0002t0002g0177
a0001c0002t0002g0177
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.1203+6436A>G
c.1203+6436A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8459489
chr1:8459533 G
G
 C
C
 14 a0001c0001t0003g0122
a0001c0001t0006g0153
a0001c0001t0006g0154
others(11): Show 
a0001c0001t0003g0122
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0004t0022g0121
a0009c0021t0003g0135
 14 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(11): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp2
NA18906.hp2
NA20300.hp2
 intron_variant MODIFIER c.1203+6392C>G
c.1203+6392C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8459533
chr1:8459683 C
C
 T
T
 3 a0001c0003t0008g0105
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0003t0008g0105
a0001c0009t0004g0016
a0001c0009t0004g0020
 3 HG00741.hp2
HG01168.hp2
HG01255.hp1
HG00741.hp2
HG01168.hp2
HG01255.hp1
 intron_variant MODIFIER c.1203+6242G>A
c.1203+6242G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8459683
chr1:8459696 G
G
 A
A
 9 a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0010t0007g0026
others(6): Show 
a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0006c0025t0007g0025
 9 HG02280.hp1
HG02451.hp2
HG02559.hp1
others(6): Show 
HG02280.hp1
HG02451.hp2
HG02559.hp1
HG02647.hp2
HG02723.hp2
HG02809.hp2
HG02965.hp1
HG03540.hp2
HG03579.hp2
 intron_variant MODIFIER c.1203+6229C>T
c.1203+6229C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8459696
chr1:8459701 A
A
 G
G
 2 a0001c0002t0002g0157
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0005t0034g0156
 2 HG02622.hp1
HG03130.hp1
HG02622.hp1
HG03130.hp1
 intron_variant MODIFIER c.1203+6224T>C
c.1203+6224T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8459701
chr1:8460048 G
G
 A
A
 5 a0001c0001t0001g0004
a0001c0001t0001g0064
a0001c0004t0001g0049
others(2): Show 
a0001c0001t0001g0004
a0001c0001t0001g0064
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0019t0014g0119
 5 HG00597.hp2
HG00609.hp2
HG01433.hp1
others(2): Show 
HG00597.hp2
HG00609.hp2
HG01433.hp1
HG03195.hp2
NA19074.hp1
 intron_variant MODIFIER c.1203+5877C>T
c.1203+5877C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8460048
chr1:8460231 G
G
 A
A
 2 a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0153
a0001c0001t0006g0154
 2 HG03225.hp2
NA20300.hp2
HG03225.hp2
NA20300.hp2
 intron_variant MODIFIER c.1203+5694C>T
c.1203+5694C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8460231
chr1:8460348 G
G
 A
A
 2 a0001c0002t0002g0168
a0001c0024t0002g0182
a0001c0002t0002g0168
a0001c0024t0002g0182
 2 HG00741.hp1
HG02896.hp2
HG00741.hp1
HG02896.hp2
 intron_variant MODIFIER c.1203+5577C>T
c.1203+5577C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8460348
chr1:8460427 AAAG
AAAG
 A
A
 40 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(37): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0004c0012t0008g0137
a0004c0012t0008g0138
a0008c0017t0003g0101
a0010c0027t0003g0086
 40 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(37): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02735.hp2
HG02976.hp2
HG03195.hp1
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.1203+5495_1203+549
others(7): Show 
c.1203+5495_1203+5497delCTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8460427
chr1:8461178 T
T
 C
C
 14 a0001c0001t0003g0122
a0001c0001t0006g0153
a0001c0001t0006g0154
others(11): Show 
a0001c0001t0003g0122
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0004t0022g0121
a0009c0021t0003g0135
 14 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(11): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp2
NA18906.hp2
NA20300.hp2
 intron_variant MODIFIER c.1203+4747A>G
c.1203+4747A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8461178
chr1:8461636 G
G
 A
A
 2 a0002c0006t0003g0139
a0002c0026t0008g0140
a0002c0006t0003g0139
a0002c0026t0008g0140
 2 HG01361.hp2
HG01981.hp1
HG01361.hp2
HG01981.hp1
 intron_variant MODIFIER c.1203+4289C>T
c.1203+4289C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8461636
chr1:8461717 T
T
 C
C
 1 a0001c0002t0005g0110
a0001c0002t0005g0110
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.1203+4208A>G
c.1203+4208A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8461717
chr1:8461795 G
G
 C
C
 1 a0006c0025t0007g0025
a0006c0025t0007g0025
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.1203+4130C>G
c.1203+4130C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8461795
chr1:8461856 T
T
 A
A
 4 a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0046
others(1): Show 
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0046
a0001c0001t0001g0052
 4 HG02004.hp2
HG02165.hp2
HG02523.hp1
others(1): Show 
HG02004.hp2
HG02165.hp2
HG02523.hp1
NA18983.hp2
 intron_variant MODIFIER c.1203+4069A>T
c.1203+4069A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8461856
chr1:8462338 C
C
 T
T
 5 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0014g0126
others(2): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0014g0126
a0001c0005t0026g0127
a0001c0005t0034g0156
 5 HG02622.hp1
HG02965.hp2
HG03130.hp1
others(2): Show 
HG02622.hp1
HG02965.hp2
HG03130.hp1
HG03579.hp1
NA21309.hp1
 intron_variant MODIFIER c.1203+3587G>A
c.1203+3587G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8462338
chr1:8462465 C
C
 T
T
 1 a0001c0001t0016g0054
a0001c0001t0016g0054
 1 HG02293.hp1
HG02293.hp1
 intron_variant MODIFIER c.1203+3460G>A
c.1203+3460G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8462465
chr1:8462493 C
C
 A
A
 40 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(37): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0004c0012t0008g0137
a0004c0012t0008g0138
a0008c0017t0003g0101
a0010c0027t0003g0086
 40 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(37): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02735.hp2
HG02976.hp2
HG03195.hp1
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.1203+3432G>T
c.1203+3432G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8462493
chr1:8462633 G
G
 A
A
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.1203+3292C>T
c.1203+3292C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8462633
chr1:8462850 A
A
 G
G
 202 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(199): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0157
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0002t0035g0160
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0014t0002g0191
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0001c0023t0002g0175
a0001c0024t0002g0182
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 202 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(199): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp1
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1203+3075T>C
c.1203+3075T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8462850
chr1:8463347 C
C
 T
T
 1 a0001c0002t0002g0180
a0001c0002t0002g0180
 1 HG02080.hp2
HG02080.hp2
 intron_variant MODIFIER c.1203+2578G>A
c.1203+2578G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8463347
chr1:8463490 A
A
 G
G
 1 a0001c0001t0003g0088
a0001c0001t0003g0088
 1 HG01496.hp1
HG01496.hp1
 intron_variant MODIFIER c.1203+2435T>C
c.1203+2435T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8463490
chr1:8463491 G
G
 A
A
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.1203+2434C>T
c.1203+2434C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8463491
chr1:8463541 G
G
 A
A
 1 a0001c0002t0005g0110
a0001c0002t0005g0110
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.1203+2384C>T
c.1203+2384C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8463541
chr1:8463650 G
G
 C
C
 1 a0001c0004t0006g0146
a0001c0004t0006g0146
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.1203+2275C>G
c.1203+2275C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8463650
chr1:8463692 G
G
 T
T
 2 a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0171
a0001c0002t0002g0172
 2 HG01515.hp2
HG01517.hp1
HG01515.hp2
HG01517.hp1
 intron_variant MODIFIER c.1203+2233C>A
c.1203+2233C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8463692
chr1:8463764 C
C
 A
A
 1 a0001c0024t0002g0182
a0001c0024t0002g0182
 1 HG02896.hp2
HG02896.hp2
 intron_variant MODIFIER c.1203+2161G>T
c.1203+2161G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8463764
chr1:8463808 T
T
 C
C
 1 a0001c0002t0005g0116
a0001c0002t0005g0116
 1 HG00639.hp1
HG00639.hp1
 intron_variant MODIFIER c.1203+2117A>G
c.1203+2117A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8463808
chr1:8463903 G
G
 T
T
 1 a0001c0003t0004g0021
a0001c0003t0004g0021
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.1203+2022C>A
c.1203+2022C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8463903
chr1:8464133 A
A
 C
C
 164 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(161): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 164 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(161): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1203+1792T>G
c.1203+1792T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8464133
chr1:8464185 G
G
 C
C
 2 a0001c0004t0014g0126
a0001c0005t0026g0127
a0001c0004t0014g0126
a0001c0005t0026g0127
 2 HG02965.hp2
NA21309.hp1
HG02965.hp2
NA21309.hp1
 intron_variant MODIFIER c.1203+1740C>G
c.1203+1740C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8464185
chr1:8464280 C
C
 A
A
 3 a0001c0001t0016g0054
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0001t0016g0054
a0001c0001t0037g0196
a0001c0001t0038g0195
 3 HG01515.hp1
HG01517.hp2
HG02293.hp1
HG01515.hp1
HG01517.hp2
HG02293.hp1
 intron_variant MODIFIER c.1203+1645G>T
c.1203+1645G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8464280
chr1:8464389 G
G
 A
A
 2 a0005c0013t0021g0023
a0005c0013t0029g0111
a0005c0013t0021g0023
a0005c0013t0029g0111
 2 HG03041.hp1
HG03471.hp1
HG03041.hp1
HG03471.hp1
 intron_variant MODIFIER c.1203+1536C>T
c.1203+1536C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8464389
chr1:8464550 A
A
 C
C
 3 a0001c0002t0005g0110
a0005c0013t0021g0023
a0005c0013t0029g0111
a0001c0002t0005g0110
a0005c0013t0021g0023
a0005c0013t0029g0111
 3 HG02723.hp1
HG03041.hp1
HG03471.hp1
HG02723.hp1
HG03041.hp1
HG03471.hp1
 intron_variant MODIFIER c.1203+1375T>G
c.1203+1375T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8464550
chr1:8464580 T
T
 G
G
 1 a0001c0004t0001g0003
a0001c0004t0001g0003
 1 HG04184.hp2
HG04184.hp2
 intron_variant MODIFIER c.1203+1345A>C
c.1203+1345A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8464580
chr1:8464736 G
G
 T
T
 1 a0001c0002t0032g0155
a0001c0002t0032g0155
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.1203+1189C>A
c.1203+1189C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8464736
chr1:8464817 G
G
 A
A
 91 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(88): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0004t0010g0142
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0006c0025t0007g0025
 91 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(88): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03453.hp1
HG03491.hp2
HG03540.hp2
HG03579.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1203+1108C>T
c.1203+1108C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8464817
chr1:8465144 C
C
 T
T
 1 a0001c0001t0003g0118
a0001c0001t0003g0118
 1 HG02523.hp2
HG02523.hp2
 intron_variant MODIFIER c.1203+781G>A
c.1203+781G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8465144
chr1:8465394 A
A
 C
C
 1 a0001c0003t0017g0032
a0001c0003t0017g0032
 1 HG04115.hp2
HG04115.hp2
 intron_variant MODIFIER c.1203+531T>G
c.1203+531T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8465394
chr1:8465429 A
A
 G
G
 2 a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0002t0018g0002
a0001c0004t0010g0142
 2 HG02559.hp1
HG03579.hp2
HG02559.hp1
HG03579.hp2
 intron_variant MODIFIER c.1203+496T>C
c.1203+496T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8465429
chr1:8465555 C
C
 T
T
 33 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(30): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0006g0181
a0001c0001t0030g0143
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0004c0012t0008g0137
a0004c0012t0008g0138
a0008c0017t0003g0101
a0010c0027t0003g0086
 33 HG00280.hp2
HG00609.hp1
HG01433.hp2
others(30): Show 
HG00280.hp2
HG00609.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02735.hp2
HG02976.hp2
HG03195.hp1
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18983.hp1
NA18985.hp1
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.1203+370G>A
c.1203+370G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8465555
chr1:8465731 C
C
 T
T
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.1203+194G>A
c.1203+194G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 11/22 chr1 8465731
chr1:8466082 G
G
 A
A
 120 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(117): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0002g0157
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0006c0025t0007g0025
a0007c0020t0039g0197
a0009c0021t0003g0135
 120 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(117): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01884.hp1
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1105-59C>T
c.1105-59C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8466082
chr1:8466415 G
G
 A
A
 2 a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0002t0018g0002
a0001c0004t0010g0142
 2 HG02559.hp1
HG03579.hp2
HG02559.hp1
HG03579.hp2
 intron_variant MODIFIER c.1105-392C>T
c.1105-392C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8466415
chr1:8466471 C
C
 T
T
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.1105-448G>A
c.1105-448G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8466471
chr1:8466582 T
T
 C
C
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.1105-559A>G
c.1105-559A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8466582
chr1:8466910 G
G
 A
A
 2 a0001c0004t0014g0126
a0001c0005t0026g0127
a0001c0004t0014g0126
a0001c0005t0026g0127
 2 HG02965.hp2
NA21309.hp1
HG02965.hp2
NA21309.hp1
 intron_variant MODIFIER c.1105-887C>T
c.1105-887C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8466910
chr1:8467154 C
C
 T
T
 3 a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0036
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0036
 3 HG02698.hp1
HG03654.hp2
homoSapiens_chm13v2.hp1
HG02698.hp1
HG03654.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1105-1131G>A
c.1105-1131G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8467154
chr1:8467234 G
G
 A
A
 1 a0001c0001t0001g0037
a0001c0001t0001g0037
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.1105-1211C>T
c.1105-1211C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8467234
chr1:8467460 C
C
 T
T
 45 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(42): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0018t0001g0005
 45 HG00140.hp2
HG00280.hp1
HG00597.hp2
others(42): Show 
HG00140.hp2
HG00280.hp1
HG00597.hp2
HG00609.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01261.hp1
HG01433.hp1
HG01496.hp2
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02486.hp2
HG02523.hp1
HG02683.hp1
HG02698.hp2
HG03139.hp1
HG03453.hp1
HG03491.hp2
HG03688.hp1
HG03831.hp2
HG04184.hp2
HG04199.hp2
NA18944.hp1
NA18964.hp2
NA18967.hp1
NA18983.hp2
NA18985.hp2
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.1105-1437G>A
c.1105-1437G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8467460
chr1:8467483 T
T
 C
C
 2 a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0002t0018g0002
a0001c0004t0010g0142
 2 HG02559.hp1
HG03579.hp2
HG02559.hp1
HG03579.hp2
 intron_variant MODIFIER c.1105-1460A>G
c.1105-1460A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8467483
chr1:8467667 C
C
 T
T
 4 a0001c0001t0001g0055
a0001c0002t0005g0110
a0005c0013t0021g0023
others(1): Show 
a0001c0001t0001g0055
a0001c0002t0005g0110
a0005c0013t0021g0023
a0005c0013t0029g0111
 4 HG02723.hp1
HG03041.hp1
HG03471.hp1
others(1): Show 
HG02723.hp1
HG03041.hp1
HG03471.hp1
HG04199.hp2
 intron_variant MODIFIER c.1105-1644G>A
c.1105-1644G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8467667
chr1:8467810 T
T
 A
A
 2 a0004c0012t0008g0137
a0004c0012t0008g0138
a0004c0012t0008g0137
a0004c0012t0008g0138
 2 HG02976.hp2
HG03195.hp1
HG02976.hp2
HG03195.hp1
 intron_variant MODIFIER c.1105-1787A>T
c.1105-1787A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8467810
chr1:8467896 G
G
 A
A
 1 a0001c0002t0005g0125
a0001c0002t0005g0125
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.1105-1873C>T
c.1105-1873C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8467896
chr1:8467940 G
G
 A
A
 1 a0001c0014t0002g0191
a0001c0014t0002g0191
 1 HG01361.hp1
HG01361.hp1
 intron_variant MODIFIER c.1105-1917C>T
c.1105-1917C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8467940
chr1:8467960 A
A
 G
G
 4 a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0014
others(1): Show 
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0014
a0001c0003t0004g0036
 4 HG01358.hp2
HG02698.hp1
HG03654.hp2
others(1): Show 
HG01358.hp2
HG02698.hp1
HG03654.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1105-1937T>C
c.1105-1937T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8467960
chr1:8468032 A
A
 G
G
 1 a0001c0002t0005g0125
a0001c0002t0005g0125
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.1105-2009T>C
c.1105-2009T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8468032
chr1:8468292 G
G
 C
C
 2 a0004c0012t0008g0137
a0004c0012t0008g0138
a0004c0012t0008g0137
a0004c0012t0008g0138
 2 HG02976.hp2
HG03195.hp1
HG02976.hp2
HG03195.hp1
 intron_variant MODIFIER c.1105-2269C>G
c.1105-2269C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8468292
chr1:8468701 T
T
 C
C
 10 a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
others(7): Show 
a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0009c0021t0003g0135
 10 HG01175.hp2
HG01884.hp1
HG02109.hp2
others(7): Show 
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03225.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.1105-2678A>G
c.1105-2678A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8468701
chr1:8468746 G
G
 A
A
 5 a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
others(2): Show 
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0031g0144
a0001c0002t0002g0193
 5 HG00597.hp1
HG01358.hp1
HG02523.hp2
others(2): Show 
HG00597.hp1
HG01358.hp1
HG02523.hp2
NA18973.hp2
NA18993.hp2
 intron_variant MODIFIER c.1105-2723C>T
c.1105-2723C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8468746
chr1:8468794 G
G
 T
T
 40 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(37): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0004c0012t0008g0137
a0004c0012t0008g0138
a0008c0017t0003g0101
a0010c0027t0003g0086
 40 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(37): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02735.hp2
HG02976.hp2
HG03195.hp1
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.1105-2771C>A
c.1105-2771C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8468794
chr1:8468810 C
C
 T
T
 1 a0001c0002t0032g0155
a0001c0002t0032g0155
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.1105-2787G>A
c.1105-2787G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8468810
chr1:8468900 T
T
 TA
TA
 16 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0003t0008g0105
others(13): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0003t0008g0105
a0001c0004t0014g0126
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0007c0020t0039g0197
 16 HG00741.hp2
HG01168.hp2
HG01255.hp1
others(13): Show 
HG00741.hp2
HG01168.hp2
HG01255.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02622.hp1
HG02818.hp1
HG02965.hp2
HG02970.hp2
HG03130.hp1
HG03209.hp1
HG03516.hp1
HG03579.hp1
HG06807.hp1
NA21309.hp1
 intron_variant MODIFIER c.1105-2878dupT
c.1105-2878dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8468900
chr1:8469081 T
T
 C
C
 40 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(37): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0004c0012t0008g0137
a0004c0012t0008g0138
a0008c0017t0003g0101
a0010c0027t0003g0086
 40 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(37): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02735.hp2
HG02976.hp2
HG03195.hp1
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.1105-3058A>G
c.1105-3058A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8469081
chr1:8469266 A
A
 G
G
 5 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0014g0126
others(2): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0014g0126
a0001c0005t0026g0127
a0001c0005t0034g0156
 5 HG02622.hp1
HG02965.hp2
HG03130.hp1
others(2): Show 
HG02622.hp1
HG02965.hp2
HG03130.hp1
HG03579.hp1
NA21309.hp1
 intron_variant MODIFIER c.1105-3243T>C
c.1105-3243T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8469266
chr1:8469347 G
G
 A
A
 2 a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0153
a0001c0001t0006g0154
 2 HG03225.hp2
NA20300.hp2
HG03225.hp2
NA20300.hp2
 intron_variant MODIFIER c.1105-3324C>T
c.1105-3324C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8469347
chr1:8469464 T
T
 C
C
 120 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(117): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0002g0157
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0006c0025t0007g0025
a0007c0020t0039g0197
a0009c0021t0003g0135
 120 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(117): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01884.hp1
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1105-3441A>G
c.1105-3441A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8469464
chr1:8469616 C
C
 T
T
 1 a0001c0002t0005g0125
a0001c0002t0005g0125
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.1105-3593G>A
c.1105-3593G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8469616
chr1:8469632 A
A
 G
G
 1 a0001c0002t0002g0161
a0001c0002t0002g0161
 1 HG02027.hp2
HG02027.hp2
 intron_variant MODIFIER c.1105-3609T>C
c.1105-3609T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8469632
chr1:8469639 T
T
 C
C
 5 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0014g0126
others(2): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0014g0126
a0001c0005t0026g0127
a0001c0005t0034g0156
 5 HG02622.hp1
HG02965.hp2
HG03130.hp1
others(2): Show 
HG02622.hp1
HG02965.hp2
HG03130.hp1
HG03579.hp1
NA21309.hp1
 intron_variant MODIFIER c.1105-3616A>G
c.1105-3616A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8469639
chr1:8469956 GCATTCCT
others(9): Show 
GCATTCCTACTTCCTTC
 G
G
 5 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0014g0126
others(2): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0014g0126
a0001c0005t0026g0127
a0001c0005t0034g0156
 5 HG02622.hp1
HG02965.hp2
HG03130.hp1
others(2): Show 
HG02622.hp1
HG02965.hp2
HG03130.hp1
HG03579.hp1
NA21309.hp1
 intron_variant MODIFIER c.1105-3949_1105-393
others(20): Show 
c.1105-3949_1105-3934delGAAGGAAGTAGGAATG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8469956
chr1:8470055 T
T
 C
C
 1 a0001c0002t0006g0145
a0001c0002t0006g0145
 1 HG03491.hp1
HG03491.hp1
 intron_variant MODIFIER c.1105-4032A>G
c.1105-4032A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8470055
chr1:8470437 A
A
 G
G
 6 a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0014
others(3): Show 
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0014
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0015g0147
 6 HG00639.hp2
HG01358.hp2
HG02280.hp2
others(3): Show 
HG00639.hp2
HG01358.hp2
HG02280.hp2
HG02698.hp1
HG03654.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1105-4414T>C
c.1105-4414T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8470437
chr1:8470521 G
G
 A
A
 5 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0014g0126
others(2): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0014g0126
a0001c0005t0026g0127
a0001c0005t0034g0156
 5 HG02622.hp1
HG02965.hp2
HG03130.hp1
others(2): Show 
HG02622.hp1
HG02965.hp2
HG03130.hp1
HG03579.hp1
NA21309.hp1
 intron_variant MODIFIER c.1105-4498C>T
c.1105-4498C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8470521
chr1:8470582 G
G
 A
A
 2 a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0153
a0001c0001t0006g0154
 2 HG03225.hp2
NA20300.hp2
HG03225.hp2
NA20300.hp2
 intron_variant MODIFIER c.1105-4559C>T
c.1105-4559C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8470582
chr1:8470596 C
C
 A
A
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.1105-4573G>T
c.1105-4573G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8470596
chr1:8470813 C
C
 CT
CT
 49 a0001c0001t0001g0033
a0001c0001t0003g0122
a0001c0002t0002g0149
others(46): Show 
a0001c0001t0001g0033
a0001c0001t0003g0122
a0001c0002t0002g0149
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0157
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0167
a0001c0002t0002g0169
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0193
a0001c0002t0005g0116
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0032g0155
a0001c0002t0033g0186
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0004t0003g0109
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0027g0106
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0014t0002g0191
a0001c0019t0014g0119
a0001c0023t0002g0175
a0001c0024t0002g0182
a0009c0021t0003g0135
 49 HG00639.hp1
HG01167.hp1
HG01168.hp1
others(46): Show 
HG00639.hp1
HG01167.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp2
HG01255.hp2
HG01261.hp2
HG01358.hp1
HG01361.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp2
HG02080.hp2
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp2
HG02257.hp1
HG02293.hp2
HG02451.hp1
HG02486.hp1
HG02559.hp2
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02735.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp2
HG02965.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp2
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03654.hp1
NA18939.hp2
NA18967.hp2
NA19043.hp2
NA19085.hp1
NA20752.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1105-4791dupA
c.1105-4791dupA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8470813
chr1:8470813 C
C
 CTT
CTT
 53 a0001c0001t0001g0037
a0001c0001t0001g0060
a0001c0001t0001g0063
others(50): Show 
a0001c0001t0001g0037
a0001c0001t0001g0060
a0001c0001t0001g0063
a0001c0001t0001g0074
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0002t0002g0150
a0001c0002t0002g0161
a0001c0002t0002g0168
a0001c0002t0002g0173
a0001c0002t0002g0187
a0001c0002t0002g0192
a0001c0002t0005g0110
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0035g0160
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0005g0123
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0071
a0003c0008t0001g0072
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
 53 HG00140.hp1
HG00140.hp2
HG00544.hp2
others(50): Show 
HG00140.hp1
HG00140.hp2
HG00544.hp2
HG00639.hp2
HG00741.hp1
HG00741.hp2
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01358.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp2
HG02109.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02602.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03209.hp1
HG03225.hp2
HG03471.hp1
HG03540.hp2
HG03654.hp2
HG03669.hp2
HG03831.hp1
HG04115.hp2
HG04199.hp1
HG04228.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18973.hp1
NA19009.hp2
NA20129.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1105-4792_1105-479
others(6): Show 
c.1105-4792_1105-4791dupAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8470813
chr1:8470813 C
C
 CTTT
CTTT
 76 a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0038
others(73): Show 
a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0076
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0166
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0174
a0001c0002t0005g0125
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0003t0004g0011
a0001c0003t0004g0042
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0003t0011g0112
a0001c0004t0001g0049
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0010g0142
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0204
a0001c0007t0003g0084
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0022t0008g0082
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0003c0008t0001g0031
a0004c0012t0008g0137
a0004c0012t0008g0138
a0007c0020t0039g0197
a0008c0017t0003g0101
 76 HG00280.hp1
HG00280.hp2
HG00544.hp1
others(73): Show 
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG01167.hp2
HG01169.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02129.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02293.hp1
HG02523.hp1
HG02523.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02735.hp2
HG02818.hp1
HG02970.hp2
HG02976.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03453.hp1
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03579.hp2
HG04199.hp2
HG06807.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18964.hp1
NA18964.hp2
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19007.hp2
NA19009.hp1
NA19043.hp1
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA20129.hp1
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.1105-4793_1105-479
others(7): Show 
c.1105-4793_1105-4791dupAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8470813
chr1:8470813 C
C
 CTTTT
CTTTT
 20 a0001c0001t0001g0013
a0001c0001t0001g0043
a0001c0001t0001g0065
others(17): Show 
a0001c0001t0001g0013
a0001c0001t0001g0043
a0001c0001t0001g0065
a0001c0001t0001g0069
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0102
a0001c0001t0006g0181
a0001c0002t0005g0114
a0001c0003t0004g0021
a0001c0003t0004g0068
a0001c0004t0003g0092
a0001c0004t0025g0080
a0001c0007t0003g0098
a0001c0007t0004g0047
a0001c0009t0041g0198
a0001c0018t0001g0005
a0002c0006t0003g0089
a0010c0027t0003g0086
 20 HG01192.hp1
HG01192.hp2
HG01433.hp1
others(17): Show 
HG01192.hp1
HG01192.hp2
HG01433.hp1
HG02004.hp1
HG02074.hp2
HG02080.hp1
HG02132.hp1
HG02145.hp1
HG02258.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
NA18967.hp1
NA18985.hp1
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19070.hp2
 intron_variant MODIFIER c.1105-4794_1105-479
others(8): Show 
c.1105-4794_1105-4791dupAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8470813
chr1:8470882 A
A
 C
C
 2 a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0002t0018g0002
a0001c0004t0010g0142
 2 HG02559.hp1
HG03579.hp2
HG02559.hp1
HG03579.hp2
 intron_variant MODIFIER c.1105-4859T>G
c.1105-4859T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8470882
chr1:8470886 T
T
 G
G
 1 a0001c0022t0008g0082
a0001c0022t0008g0082
 1 HG00280.hp2
HG00280.hp2
 intron_variant MODIFIER c.1105-4863A>C
c.1105-4863A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8470886
chr1:8470965 C
C
 T
T
 1 a0001c0003t0011g0108
a0001c0003t0011g0108
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.1105-4942G>A
c.1105-4942G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8470965
chr1:8470982 A
A
 G
G
 1 a0001c0002t0005g0110
a0001c0002t0005g0110
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.1105-4959T>C
c.1105-4959T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8470982
chr1:8471051 A
A
 G
G
 120 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(117): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0002g0157
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0006c0025t0007g0025
a0007c0020t0039g0197
a0009c0021t0003g0135
 120 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(117): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01884.hp1
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1105-5028T>C
c.1105-5028T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8471051
chr1:8471064 G
G
 C
C
 2 a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0153
a0001c0001t0006g0154
 2 HG03225.hp2
NA20300.hp2
HG03225.hp2
NA20300.hp2
 intron_variant MODIFIER c.1105-5041C>G
c.1105-5041C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8471064
chr1:8471109 G
G
 A
A
 1 a0001c0004t0010g0142
a0001c0004t0010g0142
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.1105-5086C>T
c.1105-5086C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8471109
chr1:8471266 A
A
 G
G
 101 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(98): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0004t0010g0142
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0006c0025t0007g0025
a0007c0020t0039g0197
 101 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(98): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1105-5243T>C
c.1105-5243T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8471266
chr1:8471357 C
C
 T
T
 1 a0001c0001t0001g0039
a0001c0001t0001g0039
 1 HG02004.hp2
HG02004.hp2
 intron_variant MODIFIER c.1105-5334G>A
c.1105-5334G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8471357
chr1:8471517 C
C
 CT
CT
 32 a0001c0001t0003g0122
a0001c0002t0005g0110
a0001c0002t0005g0128
others(29): Show 
a0001c0001t0003g0122
a0001c0002t0005g0110
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0003t0004g0017
a0001c0003t0004g0021
a0001c0003t0008g0105
a0001c0003t0017g0032
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0022g0121
a0001c0004t0027g0106
a0001c0007t0001g0008
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0009c0021t0003g0135
 32 HG00140.hp1
HG00741.hp2
HG01167.hp1
others(29): Show 
HG00140.hp1
HG00741.hp2
HG01167.hp1
HG01168.hp2
HG01175.hp2
HG01192.hp1
HG01255.hp1
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02280.hp1
HG02451.hp2
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG03041.hp1
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03540.hp2
HG03831.hp1
HG04115.hp2
NA18906.hp2
 intron_variant MODIFIER c.1105-5495dupA
c.1105-5495dupA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8471517
chr1:8471517 C
C
 CTT
CTT
 40 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(37): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0006g0146
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0007t0003g0084
a0001c0007t0003g0099
a0001c0009t0041g0198
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0004c0012t0008g0137
a0004c0012t0008g0138
a0007c0020t0039g0197
 40 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(37): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02074.hp1
HG02109.hp1
HG02132.hp1
HG02145.hp1
HG02165.hp1
HG02257.hp2
HG02293.hp1
HG02523.hp2
HG02818.hp1
HG02970.hp2
HG02976.hp2
HG03195.hp1
HG03209.hp1
HG03491.hp1
HG03516.hp1
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG06807.hp1
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18993.hp2
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
 intron_variant MODIFIER c.1105-5496_1105-549
others(6): Show 
c.1105-5496_1105-5495dupAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8471517
chr1:8471517 C
C
 CTTT
CTTT
 8 a0001c0001t0030g0143
a0001c0002t0005g0114
a0001c0004t0005g0079
others(5): Show 
a0001c0001t0030g0143
a0001c0002t0005g0114
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0025g0080
a0001c0007t0003g0098
a0008c0017t0003g0101
a0010c0027t0003g0086
 8 HG01433.hp2
HG02004.hp1
HG02155.hp2
others(5): Show 
HG01433.hp2
HG02004.hp1
HG02155.hp2
HG02735.hp2
HG04228.hp2
NA18985.hp1
NA19000.hp1
NA20905.hp2
 intron_variant MODIFIER c.1105-5497_1105-549
others(7): Show 
c.1105-5497_1105-5495dupAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8471517
chr1:8471522 T
T
 C
C
 5 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0014g0126
others(2): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0014g0126
a0001c0005t0026g0127
a0001c0005t0034g0156
 5 HG02622.hp1
HG02965.hp2
HG03130.hp1
others(2): Show 
HG02622.hp1
HG02965.hp2
HG03130.hp1
HG03579.hp1
NA21309.hp1
 intron_variant MODIFIER c.1105-5499A>G
c.1105-5499A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8471522
chr1:8471576 C
C
 T
T
 1 a0001c0024t0002g0182
a0001c0024t0002g0182
 1 HG02896.hp2
HG02896.hp2
 intron_variant MODIFIER c.1105-5553G>A
c.1105-5553G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8471576
chr1:8471599 A
A
 T
T
 3 a0001c0002t0002g0152
a0001c0002t0002g0162
a0001c0002t0002g0179
a0001c0002t0002g0152
a0001c0002t0002g0162
a0001c0002t0002g0179
 3 HG02559.hp2
HG03516.hp2
HG03540.hp1
HG02559.hp2
HG03516.hp2
HG03540.hp1
 intron_variant MODIFIER c.1105-5576T>A
c.1105-5576T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8471599
chr1:8471903 C
C
 T
T
 91 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(88): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0004t0010g0142
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0006c0025t0007g0025
 91 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(88): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03453.hp1
HG03491.hp2
HG03540.hp2
HG03579.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1105-5880G>A
c.1105-5880G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8471903
chr1:8472197 T
T
 C
C
 2 a0001c0003t0004g0068
a0002c0026t0008g0140
a0001c0003t0004g0068
a0002c0026t0008g0140
 2 HG01981.hp1
HG02258.hp2
HG01981.hp1
HG02258.hp2
 intron_variant MODIFIER c.1105-6174A>G
c.1105-6174A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8472197
chr1:8472202 A
A
 G
G
 2 a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0002t0018g0002
a0001c0004t0010g0142
 2 HG02559.hp1
HG03579.hp2
HG02559.hp1
HG03579.hp2
 intron_variant MODIFIER c.1105-6179T>C
c.1105-6179T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8472202
chr1:8472376 G
G
 A
A
 1 a0001c0001t0006g0170
a0001c0001t0006g0170
 1 HG02698.hp2
HG02698.hp2
 intron_variant MODIFIER c.1105-6353C>T
c.1105-6353C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8472376
chr1:8472780 G
G
 A
A
 1 a0002c0006t0003g0094
a0002c0006t0003g0094
 1 NA19074.hp2
NA19074.hp2
 intron_variant MODIFIER c.1105-6757C>T
c.1105-6757C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8472780
chr1:8472878 A
A
 G
G
 5 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0014g0126
others(2): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0014g0126
a0001c0005t0026g0127
a0001c0005t0034g0156
 5 HG02622.hp1
HG02965.hp2
HG03130.hp1
others(2): Show 
HG02622.hp1
HG02965.hp2
HG03130.hp1
HG03579.hp1
NA21309.hp1
 intron_variant MODIFIER c.1105-6855T>C
c.1105-6855T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8472878
chr1:8473578 T
T
 C
C
 1 a0001c0004t0014g0126
a0001c0004t0014g0126
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.1105-7555A>G
c.1105-7555A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8473578
chr1:8473640 C
C
 T
T
 3 a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
 3 HG02145.hp1
HG02970.hp2
HG06807.hp1
HG02145.hp1
HG02970.hp2
HG06807.hp1
 intron_variant MODIFIER c.1105-7617G>A
c.1105-7617G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8473640
chr1:8473941 G
G
 A
A
 1 a0001c0014t0002g0191
a0001c0014t0002g0191
 1 HG01361.hp1
HG01361.hp1
 intron_variant MODIFIER c.1105-7918C>T
c.1105-7918C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8473941
chr1:8474049 A
A
 G
G
 1 a0001c0001t0001g0073
a0001c0001t0001g0073
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.1105-8026T>C
c.1105-8026T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8474049
chr1:8474387 G
G
 A
A
 1 a0001c0005t0026g0127
a0001c0005t0026g0127
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.1105-8364C>T
c.1105-8364C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8474387
chr1:8474469 T
T
 C
C
 89 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(86): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0006c0025t0007g0025
 89 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(86): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03453.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1105-8446A>G
c.1105-8446A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8474469
chr1:8474568 G
G
 C
C
 1 a0001c0004t0040g0199
a0001c0004t0040g0199
 1 HG02970.hp2
HG02970.hp2
 intron_variant MODIFIER c.1105-8545C>G
c.1105-8545C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8474568
chr1:8474569 C
C
 T
T
 1 a0001c0004t0022g0121
a0001c0004t0022g0121
 1 HG02257.hp1
HG02257.hp1
 intron_variant MODIFIER c.1105-8546G>A
c.1105-8546G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8474569
chr1:8474767 T
T
 G
G
 1 a0001c0016t0020g0001
a0001c0016t0020g0001
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.1105-8744A>C
c.1105-8744A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8474767
chr1:8474825 T
T
 C
C
 1 a0001c0001t0006g0154
a0001c0001t0006g0154
 1 NA20300.hp2
NA20300.hp2
 intron_variant MODIFIER c.1105-8802A>G
c.1105-8802A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8474825
chr1:8474903 A
A
 T
T
 1 a0001c0004t0010g0120
a0001c0004t0010g0120
 1 HG01167.hp1
HG01167.hp1
 intron_variant MODIFIER c.1105-8880T>A
c.1105-8880T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8474903
chr1:8474917 T
T
 C
C
 1 a0001c0002t0002g0177
a0001c0002t0002g0177
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.1105-8894A>G
c.1105-8894A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8474917
chr1:8475027 G
G
 A
A
 164 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(161): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 164 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(161): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1105-9004C>T
c.1105-9004C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8475027
chr1:8475104 T
T
 G
G
 38 a0001c0001t0001g0037
a0001c0003t0004g0007
a0001c0003t0004g0010
others(35): Show 
a0001c0001t0001g0037
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0002c0006t0003g0139
a0002c0026t0008g0140
a0006c0025t0007g0025
 38 HG00140.hp1
HG00544.hp2
HG00639.hp2
others(35): Show 
HG00140.hp1
HG00544.hp2
HG00639.hp2
HG00741.hp2
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG01358.hp2
HG01361.hp2
HG01981.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02602.hp2
HG02622.hp2
HG02647.hp2
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG03130.hp2
HG03540.hp2
HG03654.hp2
HG03831.hp1
HG04115.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18946.hp1
NA18973.hp1
NA18993.hp1
NA19009.hp2
NA19043.hp2
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1105-9081A>C
c.1105-9081A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8475104
chr1:8475191 C
C
 T
T
 1 a0001c0001t0023g0113
a0001c0001t0023g0113
 1 HG00544.hp1
HG00544.hp1
 intron_variant MODIFIER c.1105-9168G>A
c.1105-9168G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8475191
chr1:8475213 A
A
 G
G
 1 a0001c0004t0005g0079
a0001c0004t0005g0079
 1 HG02735.hp2
HG02735.hp2
 intron_variant MODIFIER c.1105-9190T>C
c.1105-9190T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8475213
chr1:8475244 C
C
 T
T
 10 a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
others(7): Show 
a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0009c0021t0003g0135
 10 HG01175.hp2
HG01884.hp1
HG02109.hp2
others(7): Show 
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03225.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.1105-9221G>A
c.1105-9221G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8475244
chr1:8475305 C
C
 T
T
 1 a0001c0003t0004g0014
a0001c0003t0004g0014
 1 HG01358.hp2
HG01358.hp2
 intron_variant MODIFIER c.1105-9282G>A
c.1105-9282G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8475305
chr1:8475331 G
G
 A
A
 1 a0001c0003t0012g0018
a0001c0003t0012g0018
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.1105-9308C>T
c.1105-9308C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8475331
chr1:8475361 G
G
 A
A
 1 a0001c0002t0002g0161
a0001c0002t0002g0161
 1 HG02027.hp2
HG02027.hp2
 intron_variant MODIFIER c.1105-9338C>T
c.1105-9338C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8475361
chr1:8475373 TA
TA
 T
T
 96 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(93): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0006c0025t0007g0025
 96 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(93): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03453.hp1
HG03491.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1105-9351delT
c.1105-9351delT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8475373
chr1:8475638 C
C
 T
T
 2 a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0012g0018
a0001c0003t0012g0022
 2 HG02622.hp2
NA19043.hp2
HG02622.hp2
NA19043.hp2
 intron_variant MODIFIER c.1105-9615G>A
c.1105-9615G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8475638
chr1:8475660 C
C
 T
T
 2 a0001c0001t0001g0048
a0001c0001t0001g0070
a0001c0001t0001g0048
a0001c0001t0001g0070
 2 NA19009.hp1
NA19085.hp2
NA19009.hp1
NA19085.hp2
 intron_variant MODIFIER c.1105-9637G>A
c.1105-9637G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8475660
chr1:8475687 G
G
 GA
GA
 5 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0014g0126
others(2): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0014g0126
a0001c0005t0026g0127
a0001c0005t0034g0156
 5 HG02622.hp1
HG02965.hp2
HG03130.hp1
others(2): Show 
HG02622.hp1
HG02965.hp2
HG03130.hp1
HG03579.hp1
NA21309.hp1
 intron_variant MODIFIER c.1105-9665dupT
c.1105-9665dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8475687
chr1:8475758 C
C
 T
T
 89 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(86): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0006c0025t0007g0025
 89 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(86): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03453.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1105-9735G>A
c.1105-9735G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8475758
chr1:8475803 T
T
 C
C
 164 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(161): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 164 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(161): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1105-9780A>G
c.1105-9780A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8475803
chr1:8475804 G
G
 A
A
 8 a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0050
others(5): Show 
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0065
a0001c0001t0036g0194
a0001c0007t0004g0044
a0001c0007t0004g0047
a0002c0006t0003g0139
 8 HG01361.hp2
HG02080.hp1
HG02155.hp1
others(5): Show 
HG01361.hp2
HG02080.hp1
HG02155.hp1
NA18964.hp2
NA18985.hp2
NA19002.hp1
NA19005.hp1
NA19070.hp2
 intron_variant MODIFIER c.1105-9781C>T
c.1105-9781C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8475804
chr1:8475840 C
C
 T
T
 1 a0001c0002t0002g0162
a0001c0002t0002g0162
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.1105-9817G>A
c.1105-9817G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8475840
chr1:8476089 C
C
 T
T
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.1105-10066G>A
c.1105-10066G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8476089
chr1:8476395 G
G
 A
A
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.1105-10372C>T
c.1105-10372C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8476395
chr1:8476515 A
A
 C
C
 27 a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
others(24): Show 
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0005g0123
a0001c0007t0001g0008
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0013g0024
a0001c0015t0001g0009
a0002c0006t0003g0139
a0002c0026t0008g0140
 27 HG00140.hp1
HG00544.hp2
HG00639.hp2
others(24): Show 
HG00140.hp1
HG00544.hp2
HG00639.hp2
HG00741.hp2
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG01358.hp2
HG01361.hp2
HG01981.hp1
HG02258.hp2
HG02280.hp2
HG02602.hp2
HG02622.hp2
HG02698.hp1
HG02896.hp1
HG03540.hp2
HG03654.hp2
HG03831.hp1
HG04115.hp2
NA18939.hp1
NA18946.hp1
NA18973.hp1
NA18993.hp1
NA19009.hp2
NA19043.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1105-10492T>G
c.1105-10492T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8476515
chr1:8476641 A
A
 G
G
 4 a0001c0002t0005g0110
a0001c0004t0003g0109
a0005c0013t0021g0023
others(1): Show 
a0001c0002t0005g0110
a0001c0004t0003g0109
a0005c0013t0021g0023
a0005c0013t0029g0111
 4 HG02723.hp1
HG03041.hp1
HG03471.hp1
others(1): Show 
HG02723.hp1
HG03041.hp1
HG03471.hp1
NA21309.hp2
 intron_variant MODIFIER c.1105-10618T>C
c.1105-10618T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8476641
chr1:8476841 A
A
 C
C
 43 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(40): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0013g0053
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0018t0001g0005
 43 HG00140.hp2
HG00280.hp1
HG00597.hp2
others(40): Show 
HG00140.hp2
HG00280.hp1
HG00597.hp2
HG00609.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01261.hp1
HG01433.hp1
HG01496.hp2
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02486.hp2
HG02523.hp1
HG02683.hp1
HG02698.hp2
HG03491.hp2
HG03688.hp1
HG03831.hp2
HG04184.hp2
HG04199.hp2
NA18944.hp1
NA18964.hp2
NA18967.hp1
NA18983.hp2
NA18985.hp2
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.1105-10818T>G
c.1105-10818T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8476841
chr1:8476998 C
C
 G
G
 120 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(117): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0002g0157
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0006c0025t0007g0025
a0007c0020t0039g0197
a0009c0021t0003g0135
 120 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(117): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01884.hp1
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1105-10975G>C
c.1105-10975G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8476998
chr1:8477022 C
C
 T
T
 2 a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0188
a0001c0002t0002g0189
 2 HG01168.hp1
HG01169.hp1
HG01168.hp1
HG01169.hp1
 intron_variant MODIFIER c.1105-10999G>A
c.1105-10999G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8477022
chr1:8477071 T
T
 G
G
 5 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0014g0126
others(2): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0014g0126
a0001c0005t0026g0127
a0001c0005t0034g0156
 5 HG02622.hp1
HG02965.hp2
HG03130.hp1
others(2): Show 
HG02622.hp1
HG02965.hp2
HG03130.hp1
HG03579.hp1
NA21309.hp1
 intron_variant MODIFIER c.1105-11048A>C
c.1105-11048A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8477071
chr1:8477222 G
G
 A
A
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.1105-11199C>T
c.1105-11199C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8477222
chr1:8477229 G
G
 A
A
 88 a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0037
others(85): Show 
a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0006c0025t0007g0025
 88 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(85): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03453.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1105-11206C>T
c.1105-11206C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8477229
chr1:8477241 C
C
 A
A
 5 a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
others(2): Show 
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
 5 HG02109.hp1
HG02257.hp2
HG02818.hp1
others(2): Show 
HG02109.hp1
HG02257.hp2
HG02818.hp1
HG03209.hp1
HG03516.hp1
 intron_variant MODIFIER c.1105-11218G>T
c.1105-11218G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8477241
chr1:8477242 C
C
 A
A
 5 a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
others(2): Show 
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
 5 HG02109.hp1
HG02257.hp2
HG02818.hp1
others(2): Show 
HG02109.hp1
HG02257.hp2
HG02818.hp1
HG03209.hp1
HG03516.hp1
 intron_variant MODIFIER c.1105-11219G>T
c.1105-11219G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8477242
chr1:8477243 G
G
 A
A
 1 a0001c0002t0032g0155
a0001c0002t0032g0155
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.1105-11220C>T
c.1105-11220C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8477243
chr1:8477288 A
A
 G
G
 2 a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0002t0018g0002
a0001c0004t0010g0142
 2 HG02559.hp1
HG03579.hp2
HG02559.hp1
HG03579.hp2
 intron_variant MODIFIER c.1105-11265T>C
c.1105-11265T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8477288
chr1:8477327 C
C
 T
T
 12 a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
others(9): Show 
a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0004t0022g0121
a0009c0021t0003g0135
 12 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(9): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03225.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.1105-11304G>A
c.1105-11304G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8477327
chr1:8477926 C
C
 T
T
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.1105-11903G>A
c.1105-11903G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8477926
chr1:8478037 G
G
 A
A
 1 a0001c0018t0001g0005
a0001c0018t0001g0005
 1 HG03688.hp1
HG03688.hp1
 intron_variant MODIFIER c.1105-12014C>T
c.1105-12014C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8478037
chr1:8478050 C
C
 T
T
 1 a0001c0001t0003g0104
a0001c0001t0003g0104
 1 HG00609.hp1
HG00609.hp1
 intron_variant MODIFIER c.1105-12027G>A
c.1105-12027G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8478050
chr1:8478242 G
G
 C
C
 40 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(37): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0004c0012t0008g0137
a0004c0012t0008g0138
a0008c0017t0003g0101
a0010c0027t0003g0086
 40 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(37): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02735.hp2
HG02976.hp2
HG03195.hp1
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.1105-12219C>G
c.1105-12219C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8478242
chr1:8478243 C
C
 A
A
 40 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(37): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0004c0012t0008g0137
a0004c0012t0008g0138
a0008c0017t0003g0101
a0010c0027t0003g0086
 40 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(37): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02735.hp2
HG02976.hp2
HG03195.hp1
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.1105-12220G>T
c.1105-12220G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8478243
chr1:8478453 C
C
 T
T
 1 a0001c0002t0002g0159
a0001c0002t0002g0159
 1 NA20752.hp1
NA20752.hp1
 intron_variant MODIFIER c.1105-12430G>A
c.1105-12430G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8478453
chr1:8478916 A
A
 T
T
 5 a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
others(2): Show 
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0014t0002g0191
 5 HG01168.hp1
HG01169.hp1
HG01255.hp2
others(2): Show 
HG01168.hp1
HG01169.hp1
HG01255.hp2
HG01361.hp1
HG04228.hp1
 intron_variant MODIFIER c.1105-12893T>A
c.1105-12893T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8478916
chr1:8479209 C
C
 A
A
 164 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(161): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 164 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(161): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1105-13186G>T
c.1105-13186G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8479209
chr1:8479299 AT
AT
 A
A
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0014g0126
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0014g0126
a0001c0005t0026g0127
a0001c0005t0034g0156
a0003c0008t0001g0006
 6 HG02622.hp1
HG02965.hp2
HG02970.hp1
others(3): Show 
HG02622.hp1
HG02965.hp2
HG02970.hp1
HG03130.hp1
HG03579.hp1
NA21309.hp1
 intron_variant MODIFIER c.1105-13277delA
c.1105-13277delA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8479299
chr1:8479307 T
T
 A
A
 1 a0001c0004t0010g0142
a0001c0004t0010g0142
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.1105-13284A>T
c.1105-13284A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8479307
chr1:8479403 A
A
 G
G
 89 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(86): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0006c0025t0007g0025
 89 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(86): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03453.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1105-13380T>C
c.1105-13380T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8479403
chr1:8479641 C
C
 A
A
 2 a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0153
a0001c0001t0006g0154
 2 HG03225.hp2
NA20300.hp2
HG03225.hp2
NA20300.hp2
 intron_variant MODIFIER c.1105-13618G>T
c.1105-13618G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8479641
chr1:8479705 C
C
 T
T
 5 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0014g0126
others(2): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0014g0126
a0001c0005t0026g0127
a0001c0005t0034g0156
 5 HG02622.hp1
HG02965.hp2
HG03130.hp1
others(2): Show 
HG02622.hp1
HG02965.hp2
HG03130.hp1
HG03579.hp1
NA21309.hp1
 intron_variant MODIFIER c.1105-13682G>A
c.1105-13682G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8479705
chr1:8479804 T
T
 A
A
 1 a0001c0002t0005g0114
a0001c0002t0005g0114
 1 HG02004.hp1
HG02004.hp1
 intron_variant MODIFIER c.1105-13781A>T
c.1105-13781A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8479804
chr1:8479837 C
C
 A
A
 3 a0001c0002t0002g0174
a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0002t0002g0174
a0001c0002t0018g0002
a0001c0004t0010g0142
 3 HG02559.hp1
HG03579.hp2
NA18946.hp2
HG02559.hp1
HG03579.hp2
NA18946.hp2
 intron_variant MODIFIER c.1105-13814G>T
c.1105-13814G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8479837
chr1:8479976 C
C
 T
T
 1 a0001c0004t0005g0083
a0001c0004t0005g0083
 1 HG01433.hp2
HG01433.hp2
 intron_variant MODIFIER c.1105-13953G>A
c.1105-13953G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8479976
chr1:8480115 A
A
 G
G
 1 a0001c0002t0005g0125
a0001c0002t0005g0125
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.1105-14092T>C
c.1105-14092T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8480115
chr1:8480120 CT
CT
 C
C
 12 a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
others(9): Show 
a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0004t0022g0121
a0009c0021t0003g0135
 12 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(9): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03225.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.1105-14098delA
c.1105-14098delA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8480120
chr1:8480123 T
T
 C
C
 1 a0001c0003t0004g0078
a0001c0003t0004g0078
 1 NA19009.hp2
NA19009.hp2
 intron_variant MODIFIER c.1105-14100A>G
c.1105-14100A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8480123
chr1:8480127 T
T
 G
G
 1 a0001c0003t0004g0017
a0001c0003t0004g0017
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.1105-14104A>C
c.1105-14104A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8480127
chr1:8480128 GT
GT
 G
G
 5 a0001c0001t0001g0055
a0001c0002t0005g0125
a0001c0003t0017g0032
others(2): Show 
a0001c0001t0001g0055
a0001c0002t0005g0125
a0001c0003t0017g0032
a0001c0007t0003g0098
a0001c0019t0014g0119
 5 HG03195.hp2
HG03453.hp1
HG04115.hp2
others(2): Show 
HG03195.hp2
HG03453.hp1
HG04115.hp2
HG04199.hp2
NA19000.hp1
 intron_variant MODIFIER c.1105-14106delA
c.1105-14106delA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8480128
chr1:8480128 GTT
GTT
 G
G
 36 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(33): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0099
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0008c0017t0003g0101
a0010c0027t0003g0086
 36 HG00544.hp1
HG00597.hp1
HG00609.hp1
others(33): Show 
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02735.hp2
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.1105-14107_1105-14
others(8): Show 
c.1105-14107_1105-14106delAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8480128
chr1:8480130 T
T
 G
G
 85 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(82): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0006c0025t0007g0025
 85 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(82): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04184.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1105-14107A>C
c.1105-14107A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8480130
chr1:8480131 T
T
 G
G
 4 a0001c0001t0001g0055
a0001c0002t0005g0125
a0001c0003t0017g0032
others(1): Show 
a0001c0001t0001g0055
a0001c0002t0005g0125
a0001c0003t0017g0032
a0001c0019t0014g0119
 4 HG03195.hp2
HG03453.hp1
HG04115.hp2
others(1): Show 
HG03195.hp2
HG03453.hp1
HG04115.hp2
HG04199.hp2
 intron_variant MODIFIER c.1105-14108A>C
c.1105-14108A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8480131
chr1:8480133 T
T
 G
G
 12 a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
others(9): Show 
a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0004t0022g0121
a0009c0021t0003g0135
 12 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(9): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03225.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.1105-14110A>C
c.1105-14110A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8480133
chr1:8480137 TTTTTTG
TTTTTTG
 T
T
 12 a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
others(9): Show 
a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0004t0022g0121
a0009c0021t0003g0135
 12 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(9): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03225.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.1105-14120_1105-14
others(12): Show 
c.1105-14120_1105-14115delCAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8480137
chr1:8480138 T
T
 G
G
 2 a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0153
a0001c0001t0006g0154
 2 HG03225.hp2
NA20300.hp2
HG03225.hp2
NA20300.hp2
 intron_variant MODIFIER c.1105-14115A>C
c.1105-14115A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8480138
chr1:8480140 TTTG
TTTG
 T
T
 20 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(17): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0014g0126
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0009t0041g0198
a0001c0010t0007g0034
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0006c0025t0007g0025
a0007c0020t0039g0197
 20 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(17): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp2
HG02622.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03130.hp1
HG03209.hp1
HG03453.hp2
HG03516.hp1
HG03579.hp1
HG06807.hp1
NA21309.hp1
 intron_variant MODIFIER c.1105-14120_1105-14
others(9): Show 
c.1105-14120_1105-14118delCAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8480140
chr1:8480141 T
T
 G
G
 3 a0001c0022t0008g0082
a0004c0012t0008g0137
a0004c0012t0008g0138
a0001c0022t0008g0082
a0004c0012t0008g0137
a0004c0012t0008g0138
 3 HG00280.hp2
HG02976.hp2
HG03195.hp1
HG00280.hp2
HG02976.hp2
HG03195.hp1
 intron_variant MODIFIER c.1105-14118A>C
c.1105-14118A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8480141
chr1:8480141 TTG
TTG
 T
T
 80 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(77): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0004t0010g0142
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0013g0024
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
 80 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(77): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02896.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03491.hp2
HG03540.hp2
HG03579.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04184.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1105-14120_1105-14
others(8): Show 
c.1105-14120_1105-14119delCA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8480141
chr1:8480142 TG
TG
 T
T
 3 a0001c0022t0008g0082
a0004c0012t0008g0137
a0004c0012t0008g0138
a0001c0022t0008g0082
a0004c0012t0008g0137
a0004c0012t0008g0138
 3 HG00280.hp2
HG02976.hp2
HG03195.hp1
HG00280.hp2
HG02976.hp2
HG03195.hp1
 intron_variant MODIFIER c.1105-14120delC
c.1105-14120delC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8480142
chr1:8480143 G
G
 GT
GT
 5 a0001c0002t0002g0151
a0001c0002t0002g0171
a0001c0002t0002g0172
others(2): Show 
a0001c0002t0002g0151
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0178
a0001c0002t0002g0183
 5 HG01261.hp2
HG01515.hp2
HG01517.hp1
others(2): Show 
HG01261.hp2
HG01515.hp2
HG01517.hp1
HG01934.hp2
HG02293.hp2
 intron_variant MODIFIER c.1105-14121dupA
c.1105-14121dupA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8480143
chr1:8480143 G
G
 T
T
 2 a0001c0002t0002g0161
a0001c0002t0002g0173
a0001c0002t0002g0161
a0001c0002t0002g0173
 2 HG02027.hp2
HG04199.hp1
HG02027.hp2
HG04199.hp1
 intron_variant MODIFIER c.1105-14120C>A
c.1105-14120C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8480143
chr1:8480144 T
T
 G
G
 112 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(109): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0002g0157
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0013g0053
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0006c0025t0007g0025
a0007c0020t0039g0197
a0009c0021t0003g0135
 112 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(109): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01884.hp1
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp2
HG03471.hp2
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04184.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1105-14121A>C
c.1105-14121A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8480144
chr1:8480281 G
G
 A
A
 104 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(101): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0002g0157
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0006c0025t0007g0025
a0007c0020t0039g0197
 104 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(101): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1105-14258C>T
c.1105-14258C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8480281
chr1:8480304 T
T
 C
C
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.1105-14281A>G
c.1105-14281A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8480304
chr1:8480306 A
A
 G
G
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.1105-14283T>C
c.1105-14283T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8480306
chr1:8480350 G
G
 T
T
 1 a0002c0006t0024g0081
a0002c0006t0024g0081
 1 NA19005.hp2
NA19005.hp2
 intron_variant MODIFIER c.1105-14327C>A
c.1105-14327C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8480350
chr1:8480411 T
T
 G
G
 2 a0001c0002t0002g0166
a0001c0002t0002g0174
a0001c0002t0002g0166
a0001c0002t0002g0174
 2 NA18946.hp2
NA19070.hp1
NA18946.hp2
NA19070.hp1
 intron_variant MODIFIER c.1105-14388A>C
c.1105-14388A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8480411
chr1:8480462 G
G
 A
A
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.1105-14439C>T
c.1105-14439C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8480462
chr1:8480704 G
G
 A
A
 1 a0001c0002t0002g0157
a0001c0002t0002g0157
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.1104+14359C>T
c.1104+14359C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8480704
chr1:8480723 A
A
 G
G
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.1104+14340T>C
c.1104+14340T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8480723
chr1:8480849 C
C
 T
T
 1 a0001c0003t0004g0012
a0001c0003t0004g0012
 1 HG00544.hp2
HG00544.hp2
 intron_variant MODIFIER c.1104+14214G>A
c.1104+14214G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8480849
chr1:8480852 T
T
 C
C
 40 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(37): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0004c0012t0008g0137
a0004c0012t0008g0138
a0008c0017t0003g0101
a0010c0027t0003g0086
 40 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(37): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02735.hp2
HG02976.hp2
HG03195.hp1
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.1104+14211A>G
c.1104+14211A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8480852
chr1:8481054 A
A
 C
C
 2 a0001c0003t0004g0010
a0001c0003t0004g0036
a0001c0003t0004g0010
a0001c0003t0004g0036
 2 HG02698.hp1
homoSapiens_chm13v2.hp1
HG02698.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1104+14009T>G
c.1104+14009T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8481054
chr1:8481439 C
C
 T
T
 2 a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0153
a0001c0001t0006g0154
 2 HG03225.hp2
NA20300.hp2
HG03225.hp2
NA20300.hp2
 intron_variant MODIFIER c.1104+13624G>A
c.1104+13624G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8481439
chr1:8481737 A
A
 C
C
 2 a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0153
a0001c0001t0006g0154
 2 HG03225.hp2
NA20300.hp2
HG03225.hp2
NA20300.hp2
 intron_variant MODIFIER c.1104+13326T>G
c.1104+13326T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8481737
chr1:8481779 C
C
 G
G
 1 a0001c0016t0020g0001
a0001c0016t0020g0001
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.1104+13284G>C
c.1104+13284G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8481779
chr1:8481890 G
G
 A
A
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.1104+13173C>T
c.1104+13173C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8481890
chr1:8481922 T
T
 C
C
 1 a0001c0003t0004g0012
a0001c0003t0004g0012
 1 HG00544.hp2
HG00544.hp2
 intron_variant MODIFIER c.1104+13141A>G
c.1104+13141A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8481922
chr1:8481988 C
C
 T
T
 2 a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0002t0018g0002
a0001c0004t0010g0142
 2 HG02559.hp1
HG03579.hp2
HG02559.hp1
HG03579.hp2
 intron_variant MODIFIER c.1104+13075G>A
c.1104+13075G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8481988
chr1:8482219 TAA
TAA
 T
T
 120 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(117): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0002g0157
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0006c0025t0007g0025
a0007c0020t0039g0197
a0009c0021t0003g0135
 120 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(117): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01884.hp1
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1104+12842_1104+12
others(8): Show 
c.1104+12842_1104+12843delTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8482219
chr1:8482388 A
A
 C
C
 28 a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
others(25): Show 
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0030g0143
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0006g0145
a0001c0003t0011g0096
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0004c0012t0008g0137
a0004c0012t0008g0138
a0008c0017t0003g0101
a0010c0027t0003g0086
 28 HG00280.hp2
HG00609.hp1
HG01496.hp1
others(25): Show 
HG00280.hp2
HG00609.hp1
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02976.hp2
HG03195.hp1
HG03491.hp1
HG03688.hp2
HG04115.hp1
NA18944.hp2
NA18964.hp1
NA18983.hp1
NA18985.hp1
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.1104+12675T>G
c.1104+12675T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8482388
chr1:8482514 C
C
 T
T
 2 a0001c0001t0001g0033
a0001c0002t0002g0163
a0001c0001t0001g0033
a0001c0002t0002g0163
 2 HG01884.hp2
HG02451.hp1
HG01884.hp2
HG02451.hp1
 intron_variant MODIFIER c.1104+12549G>A
c.1104+12549G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8482514
chr1:8482640 G
G
 C
C
 120 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(117): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0002g0157
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0006c0025t0007g0025
a0007c0020t0039g0197
a0009c0021t0003g0135
 120 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(117): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01884.hp1
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1104+12423C>G
c.1104+12423C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8482640
chr1:8482681 C
C
 CA
CA
 58 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(55): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0036g0194
a0001c0002t0002g0151
a0001c0002t0002g0161
a0001c0002t0002g0176
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0193
a0001c0002t0013g0053
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0007t0003g0098
a0001c0007t0004g0044
a0001c0010t0007g0026
a0001c0014t0002g0191
a0001c0018t0001g0005
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
 58 HG00140.hp2
HG00280.hp1
HG00544.hp2
others(55): Show 
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00741.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01884.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02523.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03491.hp2
HG03516.hp2
HG03688.hp1
HG04184.hp2
HG04199.hp2
NA18964.hp2
NA18967.hp2
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19009.hp1
NA19009.hp2
NA19074.hp1
NA19085.hp2
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.1104+12381dupT
c.1104+12381dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8482681
chr1:8482681 C
C
 CAA
CAA
 14 a0001c0001t0001g0050
a0001c0001t0001g0060
a0001c0001t0001g0066
others(11): Show 
a0001c0001t0001g0050
a0001c0001t0001g0060
a0001c0001t0001g0066
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0006g0170
a0001c0002t0002g0148
a0001c0002t0002g0192
a0001c0002t0005g0125
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0004t0010g0142
a0001c0007t0004g0047
 14 HG01175.hp1
HG01433.hp1
HG02027.hp1
others(11): Show 
HG01175.hp1
HG01433.hp1
HG02027.hp1
HG02486.hp2
HG02602.hp2
HG02698.hp2
HG03453.hp1
HG03579.hp2
HG04184.hp1
NA18967.hp1
NA19005.hp1
NA19007.hp1
NA19070.hp2
NA19090.hp1
 intron_variant MODIFIER c.1104+12380_1104+12
others(8): Show 
c.1104+12380_1104+12381dupTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8482681
chr1:8482681 CA
CA
 C
C
 32 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(29): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0153
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0038g0195
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0007t0003g0084
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0024g0081
a0004c0012t0008g0137
a0004c0012t0008g0138
a0008c0017t0003g0101
a0010c0027t0003g0086
 32 HG00280.hp2
HG00597.hp1
HG00609.hp1
others(29): Show 
HG00280.hp2
HG00597.hp1
HG00609.hp1
HG01496.hp1
HG01515.hp1
HG01934.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02886.hp2
HG02976.hp2
HG03195.hp1
HG03225.hp2
HG03453.hp2
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04115.hp1
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19002.hp2
NA19005.hp2
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.1104+12381delT
c.1104+12381delT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8482681
chr1:8482681 CAAAAAAA
others(2): Show 
CAAAAAAAAA
 C
C
 13 a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
others(10): Show 
a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0004t0022g0121
a0001c0005t0009g0202
a0009c0021t0003g0135
 13 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(10): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03225.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.1104+12373_1104+12
others(15): Show 
c.1104+12373_1104+12381delTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8482681
chr1:8482681 CAAAAAAA
others(3): Show 
CAAAAAAAAAA
 C
C
 10 a0001c0002t0005g0110
a0001c0004t0040g0199
a0001c0005t0009g0200
others(7): Show 
a0001c0002t0005g0110
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0005c0013t0021g0023
a0005c0013t0029g0111
a0007c0020t0039g0197
 10 HG02145.hp1
HG02257.hp2
HG02723.hp1
others(7): Show 
HG02145.hp1
HG02257.hp2
HG02723.hp1
HG02818.hp1
HG02970.hp2
HG03041.hp1
HG03209.hp1
HG03471.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.1104+12372_1104+12
others(16): Show 
c.1104+12372_1104+12381delTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8482681
chr1:8482681 CAAAAAAA
others(6): Show 
CAAAAAAAAAAAAA
 C
C
 1 a0001c0016t0020g0001
a0001c0016t0020g0001
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.1104+12369_1104+12
others(19): Show 
c.1104+12369_1104+12381delTTTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8482681
chr1:8482734 G
G
 A
A
 7 a0001c0002t0002g0157
a0001c0002t0018g0002
a0001c0002t0032g0155
others(4): Show 
a0001c0002t0002g0157
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0005t0026g0127
a0001c0005t0034g0156
 7 HG02559.hp1
HG02622.hp1
HG02965.hp2
others(4): Show 
HG02559.hp1
HG02622.hp1
HG02965.hp2
HG03130.hp1
HG03579.hp1
HG03579.hp2
NA21309.hp1
 intron_variant MODIFIER c.1104+12329C>T
c.1104+12329C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8482734
chr1:8482801 C
C
 T
T
 5 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0014g0126
others(2): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0014g0126
a0001c0005t0026g0127
a0001c0005t0034g0156
 5 HG02622.hp1
HG02965.hp2
HG03130.hp1
others(2): Show 
HG02622.hp1
HG02965.hp2
HG03130.hp1
HG03579.hp1
NA21309.hp1
 intron_variant MODIFIER c.1104+12262G>A
c.1104+12262G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8482801
chr1:8483000 T
T
 A
A
 164 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(161): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 164 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(161): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1104+12063A>T
c.1104+12063A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8483000
chr1:8483021 T
T
 C
C
 1 a0001c0001t0037g0196
a0001c0001t0037g0196
 1 HG01517.hp2
HG01517.hp2
 intron_variant MODIFIER c.1104+12042A>G
c.1104+12042A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8483021
chr1:8483339 G
G
 A
A
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.1104+11724C>T
c.1104+11724C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8483339
chr1:8483420 T
T
 C
C
 1 a0001c0005t0026g0127
a0001c0005t0026g0127
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.1104+11643A>G
c.1104+11643A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8483420
chr1:8483930 T
T
 C
C
 1 a0001c0001t0003g0117
a0001c0001t0003g0117
 1 NA18973.hp2
NA18973.hp2
 intron_variant MODIFIER c.1104+11133A>G
c.1104+11133A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8483930
chr1:8484118 C
C
 T
T
 2 a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0153
a0001c0001t0006g0154
 2 HG03225.hp2
NA20300.hp2
HG03225.hp2
NA20300.hp2
 intron_variant MODIFIER c.1104+10945G>A
c.1104+10945G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8484118
chr1:8484283 G
G
 T
T
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.1104+10780C>A
c.1104+10780C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8484283
chr1:8484428 C
C
 CT
CT
 54 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(51): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0013g0053
a0001c0002t0032g0155
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0014g0126
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0010t0013g0024
a0001c0015t0001g0009
a0001c0018t0001g0005
a0005c0013t0021g0023
a0005c0013t0029g0111
 54 HG00140.hp2
HG00280.hp1
HG00597.hp2
others(51): Show 
HG00140.hp2
HG00280.hp1
HG00597.hp2
HG00609.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01261.hp1
HG01433.hp1
HG01496.hp2
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02486.hp2
HG02523.hp1
HG02622.hp1
HG02622.hp2
HG02698.hp2
HG02723.hp1
HG02896.hp1
HG02965.hp2
HG03041.hp1
HG03130.hp1
HG03471.hp1
HG03491.hp2
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03831.hp2
HG04184.hp2
HG04199.hp2
NA18944.hp1
NA18964.hp2
NA18967.hp1
NA18983.hp2
NA18985.hp2
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp1
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1104+10634dupA
c.1104+10634dupA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8484428
chr1:8484463 T
T
 C
C
 1 a0001c0002t0005g0116
a0001c0002t0005g0116
 1 HG00639.hp1
HG00639.hp1
 intron_variant MODIFIER c.1104+10600A>G
c.1104+10600A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8484463
chr1:8484630 C
C
 T
T
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.1104+10433G>A
c.1104+10433G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8484630
chr1:8484807 G
G
 A
A
 7 a0001c0002t0002g0157
a0001c0002t0018g0002
a0001c0002t0032g0155
others(4): Show 
a0001c0002t0002g0157
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0005t0026g0127
a0001c0005t0034g0156
 7 HG02559.hp1
HG02622.hp1
HG02965.hp2
others(4): Show 
HG02559.hp1
HG02622.hp1
HG02965.hp2
HG03130.hp1
HG03579.hp1
HG03579.hp2
NA21309.hp1
 intron_variant MODIFIER c.1104+10256C>T
c.1104+10256C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8484807
chr1:8484829 C
C
 T
T
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.1104+10234G>A
c.1104+10234G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8484829
chr1:8485084 G
G
 A
A
 1 a0001c0001t0001g0048
a0001c0001t0001g0048
 1 NA19085.hp2
NA19085.hp2
 intron_variant MODIFIER c.1104+9979C>T
c.1104+9979C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8485084
chr1:8485089 C
C
 T
T
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.1104+9974G>A
c.1104+9974G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8485089
chr1:8485110 C
C
 T
T
 4 a0001c0002t0005g0110
a0001c0004t0003g0109
a0005c0013t0021g0023
others(1): Show 
a0001c0002t0005g0110
a0001c0004t0003g0109
a0005c0013t0021g0023
a0005c0013t0029g0111
 4 HG02723.hp1
HG03041.hp1
HG03471.hp1
others(1): Show 
HG02723.hp1
HG03041.hp1
HG03471.hp1
NA21309.hp2
 intron_variant MODIFIER c.1104+9953G>A
c.1104+9953G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8485110
chr1:8485207 C
C
 A
A
 1 a0001c0004t0040g0199
a0001c0004t0040g0199
 1 HG02970.hp2
HG02970.hp2
 intron_variant MODIFIER c.1104+9856G>T
c.1104+9856G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8485207
chr1:8485218 G
G
 C
C
 1 a0001c0004t0040g0199
a0001c0004t0040g0199
 1 HG02970.hp2
HG02970.hp2
 intron_variant MODIFIER c.1104+9845C>G
c.1104+9845C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8485218
chr1:8485323 C
C
 T
T
 2 a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0002t0018g0002
a0001c0004t0010g0142
 2 HG02559.hp1
HG03579.hp2
HG02559.hp1
HG03579.hp2
 intron_variant MODIFIER c.1104+9740G>A
c.1104+9740G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8485323
chr1:8485551 A
A
 C
C
 1 a0001c0009t0041g0198
a0001c0009t0041g0198
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.1104+9512T>G
c.1104+9512T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8485551
chr1:8485721 G
G
 A
A
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.1104+9342C>T
c.1104+9342C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8485721
chr1:8485796 CT
CT
 C
C
 46 a0001c0001t0001g0075
a0001c0001t0003g0087
a0001c0001t0003g0088
others(43): Show 
a0001c0001t0001g0075
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0102
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0167
a0001c0002t0005g0114
a0001c0002t0035g0160
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0004c0012t0008g0137
a0004c0012t0008g0138
a0006c0025t0007g0025
a0008c0017t0003g0101
a0010c0027t0003g0086
 46 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(43): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02280.hp1
HG02293.hp1
HG02451.hp2
HG02523.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02965.hp1
HG02976.hp2
HG03195.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG04115.hp1
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18967.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp1
NA19074.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.1104+9266delA
c.1104+9266delA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8485796
chr1:8485796 CTT
CTT
 C
C
 116 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(113): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0123
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0005c0013t0021g0023
a0005c0013t0029g0111
a0007c0020t0039g0197
a0009c0021t0003g0135
 116 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(113): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01884.hp1
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1104+9265_1104+926
others(6): Show 
c.1104+9265_1104+9266delAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8485796
chr1:8485862 G
G
 A
A
 1 a0001c0003t0004g0014
a0001c0003t0004g0014
 1 HG01358.hp2
HG01358.hp2
 intron_variant MODIFIER c.1104+9201C>T
c.1104+9201C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8485862
chr1:8485893 G
G
 A
A
 1 a0001c0004t0040g0199
a0001c0004t0040g0199
 1 HG02970.hp2
HG02970.hp2
 intron_variant MODIFIER c.1104+9170C>T
c.1104+9170C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8485893
chr1:8486078 G
G
 A
A
 2 a0005c0013t0021g0023
a0005c0013t0029g0111
a0005c0013t0021g0023
a0005c0013t0029g0111
 2 HG03041.hp1
HG03471.hp1
HG03041.hp1
HG03471.hp1
 intron_variant MODIFIER c.1104+8985C>T
c.1104+8985C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8486078
chr1:8486089 C
C
 T
T
 2 a0001c0001t0003g0095
a0001c0007t0003g0099
a0001c0001t0003g0095
a0001c0007t0003g0099
 2 NA20129.hp1
NA20752.hp2
NA20129.hp1
NA20752.hp2
 intron_variant MODIFIER c.1104+8974G>A
c.1104+8974G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8486089
chr1:8486205 A
A
 AC
AC
 29 a0001c0001t0003g0122
a0001c0001t0006g0153
a0001c0001t0006g0154
others(26): Show 
a0001c0001t0003g0122
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0002t0002g0157
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0009t0041g0198
a0007c0020t0039g0197
a0009c0021t0003g0135
 29 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(26): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02559.hp1
HG02622.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02965.hp2
HG02970.hp2
HG03130.hp1
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG06807.hp1
NA18906.hp2
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1104+8857dupG
c.1104+8857dupG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8486205
chr1:8486627 C
C
 T
T
 2 a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0153
a0001c0001t0006g0154
 2 HG03225.hp2
NA20300.hp2
HG03225.hp2
NA20300.hp2
 intron_variant MODIFIER c.1104+8436G>A
c.1104+8436G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8486627
chr1:8486645 A
A
 C
C
 7 a0001c0002t0002g0157
a0001c0002t0018g0002
a0001c0002t0032g0155
others(4): Show 
a0001c0002t0002g0157
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0005t0026g0127
a0001c0005t0034g0156
 7 HG02559.hp1
HG02622.hp1
HG02965.hp2
others(4): Show 
HG02559.hp1
HG02622.hp1
HG02965.hp2
HG03130.hp1
HG03579.hp1
HG03579.hp2
NA21309.hp1
 intron_variant MODIFIER c.1104+8418T>G
c.1104+8418T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8486645
chr1:8486697 G
G
 A
A
 1 a0001c0001t0001g0040
a0001c0001t0001g0040
 1 HG02155.hp1
HG02155.hp1
 intron_variant MODIFIER c.1104+8366C>T
c.1104+8366C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8486697
chr1:8486755 T
T
 TA
TA
 61 a0001c0001t0001g0074
a0001c0001t0003g0087
a0001c0001t0003g0088
others(58): Show 
a0001c0001t0001g0074
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0124
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0114
a0001c0002t0006g0145
a0001c0002t0032g0155
a0001c0003t0004g0011
a0001c0003t0004g0035
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0003t0012g0022
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0041g0198
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0004c0012t0008g0137
a0004c0012t0008g0138
a0007c0020t0039g0197
a0008c0017t0003g0101
a0010c0027t0003g0086
 61 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(58): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02109.hp1
HG02132.hp1
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02293.hp1
HG02523.hp2
HG02622.hp1
HG02735.hp2
HG02818.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03579.hp1
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
HG06807.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.1104+8307dupT
c.1104+8307dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8486755
chr1:8486755 T
T
 TAA
TAA
 83 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(80): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0006c0025t0007g0025
 83 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(80): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1104+8306_1104+830
others(6): Show 
c.1104+8306_1104+8307dupTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8486755
chr1:8486768 A
A
 AG
AG
 10 a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
others(7): Show 
a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0009c0021t0003g0135
 10 HG01175.hp2
HG01884.hp1
HG02109.hp2
others(7): Show 
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03225.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.1104+8294_1104+829
others(5): Show 
c.1104+8294_1104+8295insC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8486768
chr1:8486769 A
A
 AG
AG
 2 a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0002t0018g0002
a0001c0004t0010g0142
 2 HG02559.hp1
HG03579.hp2
HG02559.hp1
HG03579.hp2
 intron_variant MODIFIER c.1104+8293_1104+829
others(5): Show 
c.1104+8293_1104+8294insC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8486769
chr1:8486787 G
G
 T
T
 1 a0001c0003t0017g0032
a0001c0003t0017g0032
 1 HG04115.hp2
HG04115.hp2
 intron_variant MODIFIER c.1104+8276C>A
c.1104+8276C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8486787
chr1:8486854 G
G
 A
A
 15 a0001c0002t0002g0157
a0001c0002t0018g0002
a0001c0002t0032g0155
others(12): Show 
a0001c0002t0002g0157
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0009t0041g0198
a0007c0020t0039g0197
 15 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(12): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02559.hp1
HG02622.hp1
HG02818.hp1
HG02965.hp2
HG02970.hp2
HG03130.hp1
HG03209.hp1
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG06807.hp1
NA21309.hp1
 intron_variant MODIFIER c.1104+8209C>T
c.1104+8209C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8486854
chr1:8487022 T
T
 A
A
 15 a0001c0002t0002g0157
a0001c0002t0018g0002
a0001c0002t0032g0155
others(12): Show 
a0001c0002t0002g0157
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0009t0041g0198
a0007c0020t0039g0197
 15 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(12): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02559.hp1
HG02622.hp1
HG02818.hp1
HG02965.hp2
HG02970.hp2
HG03130.hp1
HG03209.hp1
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG06807.hp1
NA21309.hp1
 intron_variant MODIFIER c.1104+8041A>T
c.1104+8041A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8487022
chr1:8487073 A
A
 T
T
 2 a0001c0004t0014g0126
a0001c0005t0026g0127
a0001c0004t0014g0126
a0001c0005t0026g0127
 2 HG02965.hp2
NA21309.hp1
HG02965.hp2
NA21309.hp1
 intron_variant MODIFIER c.1104+7990T>A
c.1104+7990T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8487073
chr1:8487255 T
T
 C
C
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.1104+7808A>G
c.1104+7808A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8487255
chr1:8487677 T
T
 C
C
 1 a0001c0003t0008g0105
a0001c0003t0008g0105
 1 HG00741.hp2
HG00741.hp2
 intron_variant MODIFIER c.1104+7386A>G
c.1104+7386A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8487677
chr1:8487806 A
A
 C
C
 89 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(86): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0006c0025t0007g0025
 89 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(86): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03453.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1104+7257T>G
c.1104+7257T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8487806
chr1:8487952 A
A
 C
C
 4 a0001c0002t0005g0110
a0001c0004t0003g0109
a0005c0013t0021g0023
others(1): Show 
a0001c0002t0005g0110
a0001c0004t0003g0109
a0005c0013t0021g0023
a0005c0013t0029g0111
 4 HG02723.hp1
HG03041.hp1
HG03471.hp1
others(1): Show 
HG02723.hp1
HG03041.hp1
HG03471.hp1
NA21309.hp2
 intron_variant MODIFIER c.1104+7111T>G
c.1104+7111T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8487952
chr1:8488038 A
A
 C
C
 22 a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
others(19): Show 
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0005g0123
a0001c0007t0001g0008
a0001c0009t0004g0016
a0001c0009t0004g0020
a0002c0006t0003g0139
a0002c0026t0008g0140
 22 HG00140.hp1
HG00544.hp2
HG00639.hp2
others(19): Show 
HG00140.hp1
HG00544.hp2
HG00639.hp2
HG00741.hp2
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG01358.hp2
HG01361.hp2
HG01981.hp1
HG02280.hp2
HG02602.hp2
HG02698.hp1
HG03654.hp2
HG03831.hp1
HG04115.hp2
NA18939.hp1
NA18946.hp1
NA18973.hp1
NA18993.hp1
NA19009.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1104+7025T>G
c.1104+7025T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8488038
chr1:8488086 C
C
 CA
CA
 92 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(89): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0100
a0001c0001t0003g0103
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0089
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0006c0025t0007g0025
 92 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(89): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02132.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1104+6976dupT
c.1104+6976dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8488086
chr1:8488191 G
G
 A
A
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.1104+6872C>T
c.1104+6872C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8488191
chr1:8488291 G
G
 C
C
 1 a0001c0004t0014g0126
a0001c0004t0014g0126
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.1104+6772C>G
c.1104+6772C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8488291
chr1:8488449 T
T
 C
C
 7 a0001c0003t0004g0017
a0001c0003t0004g0021
a0001c0003t0008g0105
others(4): Show 
a0001c0003t0004g0017
a0001c0003t0004g0021
a0001c0003t0008g0105
a0001c0003t0017g0032
a0001c0007t0001g0008
a0001c0009t0004g0016
a0001c0009t0004g0020
 7 HG00140.hp1
HG00741.hp2
HG01168.hp2
others(4): Show 
HG00140.hp1
HG00741.hp2
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG03831.hp1
HG04115.hp2
 intron_variant MODIFIER c.1104+6614A>G
c.1104+6614A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8488449
chr1:8488498 G
G
 T
T
 105 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(102): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0013g0053
a0001c0002t0028g0133
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0022g0121
a0001c0004t0027g0106
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0006c0025t0007g0025
a0009c0021t0003g0135
 105 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(102): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01884.hp1
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1104+6565C>A
c.1104+6565C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8488498
chr1:8488706 G
G
 A
A
 1 a0001c0002t0002g0177
a0001c0002t0002g0177
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.1104+6357C>T
c.1104+6357C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8488706
chr1:8488717 G
G
 T
T
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.1104+6346C>A
c.1104+6346C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8488717
chr1:8488908 G
G
 T
T
 2 a0001c0004t0010g0120
a0001c0004t0022g0121
a0001c0004t0010g0120
a0001c0004t0022g0121
 2 HG01167.hp1
HG02257.hp1
HG01167.hp1
HG02257.hp1
 intron_variant MODIFIER c.1104+6155C>A
c.1104+6155C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8488908
chr1:8489073 G
G
 A
A
 164 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(161): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 164 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(161): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1104+5990C>T
c.1104+5990C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8489073
chr1:8489161 T
T
 C
C
 1 a0001c0003t0004g0012
a0001c0003t0004g0012
 1 HG00544.hp2
HG00544.hp2
 intron_variant MODIFIER c.1104+5902A>G
c.1104+5902A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8489161
chr1:8489243 C
C
 T
T
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.1104+5820G>A
c.1104+5820G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8489243
chr1:8489343 A
A
 G
G
 169 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(166): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0001c0023t0002g0175
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 169 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(166): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1104+5720T>C
c.1104+5720T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8489343
chr1:8489381 A
A
 T
T
 1 a0001c0001t0001g0070
a0001c0001t0001g0070
 1 NA19009.hp1
NA19009.hp1
 intron_variant MODIFIER c.1104+5682T>A
c.1104+5682T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8489381
chr1:8489389 A
A
 T
T
 1 a0001c0003t0012g0022
a0001c0003t0012g0022
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.1104+5674T>A
c.1104+5674T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8489389
chr1:8489403 A
A
 G
G
 1 a0001c0018t0001g0005
a0001c0018t0001g0005
 1 HG03688.hp1
HG03688.hp1
 intron_variant MODIFIER c.1104+5660T>C
c.1104+5660T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8489403
chr1:8489447 G
G
 A
A
 1 a0001c0002t0005g0125
a0001c0002t0005g0125
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.1104+5616C>T
c.1104+5616C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8489447
chr1:8489521 A
A
 G
G
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.1104+5542T>C
c.1104+5542T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8489521
chr1:8489656 A
A
 G
G
 89 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(86): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0006c0025t0007g0025
 89 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(86): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03453.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1104+5407T>C
c.1104+5407T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8489656
chr1:8489681 C
C
 T
T
 120 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(117): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0002g0157
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0006c0025t0007g0025
a0007c0020t0039g0197
a0009c0021t0003g0135
 120 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(117): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01884.hp1
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1104+5382G>A
c.1104+5382G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8489681
chr1:8489827 G
G
 A
A
 1 a0001c0001t0001g0074
a0001c0001t0001g0074
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.1104+5236C>T
c.1104+5236C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8489827
chr1:8489875 C
C
 T
T
 1 a0001c0004t0001g0003
a0001c0004t0001g0003
 1 HG04184.hp2
HG04184.hp2
 intron_variant MODIFIER c.1104+5188G>A
c.1104+5188G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8489875
chr1:8489911 G
G
 A
A
 26 a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
others(23): Show 
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0005g0123
a0001c0007t0001g0008
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0015t0001g0009
a0002c0006t0003g0139
a0002c0026t0008g0140
 26 HG00140.hp1
HG00544.hp2
HG00639.hp2
others(23): Show 
HG00140.hp1
HG00544.hp2
HG00639.hp2
HG00741.hp2
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG01358.hp2
HG01361.hp2
HG01981.hp1
HG02258.hp2
HG02280.hp2
HG02602.hp2
HG02622.hp2
HG02698.hp1
HG02896.hp1
HG03654.hp2
HG03831.hp1
HG04115.hp2
NA18939.hp1
NA18946.hp1
NA18973.hp1
NA18993.hp1
NA19009.hp2
NA19043.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1104+5152C>T
c.1104+5152C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8489911
chr1:8490053 C
C
 CA
CA
 15 a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0003g0122
others(12): Show 
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0003g0122
a0001c0001t0016g0054
a0001c0002t0002g0150
a0001c0002t0002g0162
a0001c0002t0002g0177
a0001c0002t0005g0110
a0001c0002t0013g0053
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0009t0041g0198
a0002c0006t0024g0081
a0003c0008t0001g0072
a0005c0013t0029g0111
 15 HG01981.hp2
HG02027.hp1
HG02080.hp1
others(12): Show 
HG01981.hp2
HG02027.hp1
HG02080.hp1
HG02145.hp1
HG02145.hp2
HG02293.hp1
HG02559.hp2
HG02647.hp1
HG02723.hp1
HG03041.hp1
HG03130.hp2
HG03209.hp2
HG03831.hp1
NA19005.hp2
NA20905.hp1
 intron_variant MODIFIER c.1104+5009dupT
c.1104+5009dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8490053
chr1:8490139 G
G
 T
T
 2 a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0004g0016
a0001c0009t0004g0020
 2 HG01168.hp2
HG01255.hp1
HG01168.hp2
HG01255.hp1
 intron_variant MODIFIER c.1104+4924C>A
c.1104+4924C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8490139
chr1:8490186 TCCTGTCT
others(1073): Show 
TCCTGTCTCTACGAAAAATACAAAAAAATTAGCTGGACGTGGTGGCACAT
GCCTGTAGCTACTCAGGAGGCTGAGGCAGGAGAACTGCTTAAACCTGGGA
GGAGGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGC
AACATCTCAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAACCTGTTT
GACAGTTTCTGAGAGAGCTTCCTACGTACAAACAATCCTGCCACTCCAAG
TATTTACCTGAGAGAACTGAAGATAAATGTCAACATAAAGACTCATACAA
CAATGTTGAAAAAACTTTTATTTATAATGGCCAAAAGCTTATAAACAACC
AGAATGTTGTTTAACAAGGTTAAAGAATATGAAAAAATTGTGAATATGCA
TATCCATACAAGGGAATACTTATCAATAAAAAGGGGATGAACTATCGATA
CATGAAACACAACTGGCTCTCAAAATCCTTATGCCCAAAGAAGTCACACA
ATATGATTCCATTCCTGTAACATTCCGCGAAATGCAAACTACTCCAAAAT
GATTTTAAAAAAATAAAAAAAACATTGAAAACACGATACTTCAATGGCTA
TCTGAGGCTGGAAGCAGAAAATGATTATAAGAGGCCATGAGGCAACTTTT
GGGGGTGTTGGAAATGTTTTGTATCTTGACATTATAGTAGTTTCACAGAT
TTATAAGTAGTTTCACAGATTTATATATCTGAAAACCCTCAAATTTTTTA
CTTTGAAACAGAGCAGTTTATTATACATAAATCTTACCTCAATAAGTTGT
TTCAAAAATTACACACTAGCAATCTCTTTTGTTAATAATGAAGAAAAAAC
AGAATAAAAATAAGTAATCTAAGAGCTTAGATTCAAAAATAGGTCCACAT
AATTGTCATAAAGAACTGATAGCTCTGGGCAACATTGTGAGACATCATCT
CTGCAAGTAAAAATAACCAGCTGGGCCAGGCGCAGTGGCTCACGCCTGTA
ATCCCAGAACTTTGGGAGGCCAAGGCAGGTGAATCACCTGAGATCGGGAG
TTCGAGACCAGCCTGACCAACATGGCGAAAC
 T
T
 14 a0001c0001t0003g0122
a0001c0001t0006g0153
a0001c0001t0006g0154
others(11): Show 
a0001c0001t0003g0122
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0004t0022g0121
a0009c0021t0003g0135
 14 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(11): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp2
NA18906.hp2
NA20300.hp2
 intron_variant MODIFIER c.1104+3797_1104+487
others(4): Show 
c.1104+3797_1104+4876del
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8490186
chr1:8490343 CA
CA
 C
C
 11 a0001c0001t0003g0088
a0001c0002t0002g0188
a0001c0004t0040g0199
others(8): Show 
a0001c0001t0003g0088
a0001c0002t0002g0188
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0004g0016
a0001c0009t0041g0198
a0007c0020t0039g0197
 11 HG01169.hp1
HG01255.hp1
HG01496.hp1
others(8): Show 
HG01169.hp1
HG01255.hp1
HG01496.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.1104+4719delT
c.1104+4719delT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8490343
chr1:8490360 G
G
 A
A
 2 a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0002t0018g0002
a0001c0004t0010g0142
 2 HG02559.hp1
HG03579.hp2
HG02559.hp1
HG03579.hp2
 intron_variant MODIFIER c.1104+4703C>T
c.1104+4703C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8490360
chr1:8490481 T
T
 G
G
 3 a0001c0003t0008g0105
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0003t0008g0105
a0001c0009t0004g0016
a0001c0009t0004g0020
 3 HG00741.hp2
HG01168.hp2
HG01255.hp1
HG00741.hp2
HG01168.hp2
HG01255.hp1
 intron_variant MODIFIER c.1104+4582A>C
c.1104+4582A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8490481
chr1:8490543 TGTTTAAC
others(3): Show 
TGTTTAACAAG
 T
T
 2 a0001c0001t0001g0043
a0001c0001t0001g0066
a0001c0001t0001g0043
a0001c0001t0001g0066
 2 HG02027.hp1
HG02074.hp2
HG02027.hp1
HG02074.hp2
 intron_variant MODIFIER c.1104+4510_1104+451
others(14): Show 
c.1104+4510_1104+4519delCTTGTTAAAC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8490543
chr1:8490870 TAGTAGTT
others(13): Show 
TAGTAGTTTCACAGATTTATA
 T
T
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.1104+4173_1104+419
others(24): Show 
c.1104+4173_1104+4192delTATAAATCTGTGAAACTACT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8490870
chr1:8491178 C
C
 T
T
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.1104+3885G>A
c.1104+3885G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8491178
chr1:8491579 C
C
 T
T
 3 a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0036
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0036
 3 HG02698.hp1
HG03654.hp2
homoSapiens_chm13v2.hp1
HG02698.hp1
HG03654.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1104+3484G>A
c.1104+3484G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8491579
chr1:8491621 C
C
 A
A
 15 a0001c0002t0002g0157
a0001c0002t0018g0002
a0001c0002t0032g0155
others(12): Show 
a0001c0002t0002g0157
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0009t0041g0198
a0007c0020t0039g0197
 15 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(12): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02559.hp1
HG02622.hp1
HG02818.hp1
HG02965.hp2
HG02970.hp2
HG03130.hp1
HG03209.hp1
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG06807.hp1
NA21309.hp1
 intron_variant MODIFIER c.1104+3442G>T
c.1104+3442G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8491621
chr1:8491793 G
G
 A
A
 5 a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
others(2): Show 
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0014t0002g0191
 5 HG01168.hp1
HG01169.hp1
HG01255.hp2
others(2): Show 
HG01168.hp1
HG01169.hp1
HG01255.hp2
HG01361.hp1
HG04228.hp1
 intron_variant MODIFIER c.1104+3270C>T
c.1104+3270C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8491793
chr1:8492159 G
G
 A
A
 106 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(103): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0002g0157
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0004t0010g0107
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0006c0025t0007g0025
a0007c0020t0039g0197
 106 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(103): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1104+2904C>T
c.1104+2904C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8492159
chr1:8492160 A
A
 G
G
 15 a0001c0002t0002g0157
a0001c0002t0018g0002
a0001c0002t0032g0155
others(12): Show 
a0001c0002t0002g0157
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0009t0041g0198
a0007c0020t0039g0197
 15 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(12): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02559.hp1
HG02622.hp1
HG02818.hp1
HG02965.hp2
HG02970.hp2
HG03130.hp1
HG03209.hp1
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG06807.hp1
NA21309.hp1
 intron_variant MODIFIER c.1104+2903T>C
c.1104+2903T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8492160
chr1:8492744 A
A
 T
T
 90 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(87): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0030g0143
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0006c0025t0007g0025
 90 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(87): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03453.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1104+2319T>A
c.1104+2319T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8492744
chr1:8492750 A
A
 T
T
 146 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(143): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0114
a0001c0002t0005g0125
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0010c0027t0003g0086
 146 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(143): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1104+2313T>A
c.1104+2313T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8492750
chr1:8493036 G
G
 T
T
 1 a0001c0004t0040g0199
a0001c0004t0040g0199
 1 HG02970.hp2
HG02970.hp2
 intron_variant MODIFIER c.1104+2027C>A
c.1104+2027C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8493036
chr1:8493187 T
T
 C
C
 1 a0001c0005t0009g0201
a0001c0005t0009g0201
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.1104+1876A>G
c.1104+1876A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8493187
chr1:8493348 C
C
 T
T
 1 a0001c0015t0001g0009
a0001c0015t0001g0009
 1 HG02896.hp1
HG02896.hp1
 intron_variant MODIFIER c.1104+1715G>A
c.1104+1715G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8493348
chr1:8493369 A
A
 C
C
 3 a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
 3 HG02109.hp1
HG02257.hp2
HG03209.hp1
HG02109.hp1
HG02257.hp2
HG03209.hp1
 intron_variant MODIFIER c.1104+1694T>G
c.1104+1694T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8493369
chr1:8493410 C
C
 T
T
 1 a0001c0004t0003g0109
a0001c0004t0003g0109
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.1104+1653G>A
c.1104+1653G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8493410
chr1:8493633 C
C
 T
T
 5 a0001c0001t0001g0074
a0003c0008t0001g0006
a0003c0008t0001g0031
others(2): Show 
a0001c0001t0001g0074
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
 5 HG02647.hp1
HG02970.hp1
HG02976.hp1
others(2): Show 
HG02647.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03139.hp2
 intron_variant MODIFIER c.1104+1430G>A
c.1104+1430G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8493633
chr1:8493673 T
T
 G
G
 2 a0001c0004t0014g0126
a0001c0005t0026g0127
a0001c0004t0014g0126
a0001c0005t0026g0127
 2 HG02965.hp2
NA21309.hp1
HG02965.hp2
NA21309.hp1
 intron_variant MODIFIER c.1104+1390A>C
c.1104+1390A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8493673
chr1:8493891 C
C
 A
A
 3 a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
 3 HG02145.hp1
HG02970.hp2
HG06807.hp1
HG02145.hp1
HG02970.hp2
HG06807.hp1
 intron_variant MODIFIER c.1104+1172G>T
c.1104+1172G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8493891
chr1:8493928 C
C
 A
A
 2 a0001c0010t0007g0026
a0006c0025t0007g0025
a0001c0010t0007g0026
a0006c0025t0007g0025
 2 HG02647.hp2
HG02809.hp2
HG02647.hp2
HG02809.hp2
 intron_variant MODIFIER c.1104+1135G>T
c.1104+1135G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8493928
chr1:8494188 C
C
 T
T
 12 a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
others(9): Show 
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0019
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0078
a0001c0003t0015g0147
 12 HG00544.hp2
HG00639.hp2
HG01358.hp2
others(9): Show 
HG00544.hp2
HG00639.hp2
HG01358.hp2
HG02280.hp2
HG02698.hp1
HG03654.hp2
NA18939.hp1
NA18946.hp1
NA18973.hp1
NA18993.hp1
NA19009.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1104+875G>A
c.1104+875G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8494188
chr1:8494411 T
T
 G
G
 23 a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
others(20): Show 
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0005g0123
a0001c0007t0001g0008
a0001c0009t0004g0016
a0001c0009t0004g0020
a0002c0006t0003g0139
a0002c0026t0008g0140
 23 HG00140.hp1
HG00544.hp2
HG00639.hp2
others(20): Show 
HG00140.hp1
HG00544.hp2
HG00639.hp2
HG00741.hp2
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG01358.hp2
HG01361.hp2
HG01981.hp1
HG02258.hp2
HG02280.hp2
HG02602.hp2
HG02698.hp1
HG03654.hp2
HG03831.hp1
HG04115.hp2
NA18939.hp1
NA18946.hp1
NA18973.hp1
NA18993.hp1
NA19009.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1104+652A>C
c.1104+652A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8494411
chr1:8494512 G
G
 A
A
 15 a0001c0002t0002g0157
a0001c0002t0018g0002
a0001c0002t0032g0155
others(12): Show 
a0001c0002t0002g0157
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0009t0041g0198
a0007c0020t0039g0197
 15 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(12): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02559.hp1
HG02622.hp1
HG02818.hp1
HG02965.hp2
HG02970.hp2
HG03130.hp1
HG03209.hp1
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG06807.hp1
NA21309.hp1
 intron_variant MODIFIER c.1104+551C>T
c.1104+551C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8494512
chr1:8494636 C
C
 T
T
 40 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(37): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0004c0012t0008g0137
a0004c0012t0008g0138
a0008c0017t0003g0101
a0010c0027t0003g0086
 40 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(37): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02735.hp2
HG02976.hp2
HG03195.hp1
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.1104+427G>A
c.1104+427G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8494636
chr1:8494689 A
A
 T
T
 1 a0001c0003t0008g0105
a0001c0003t0008g0105
 1 HG00741.hp2
HG00741.hp2
 intron_variant MODIFIER c.1104+374T>A
c.1104+374T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8494689
chr1:8494999 C
C
 G
G
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.1104+64G>C
c.1104+64G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 10/22 chr1 8494999
chr1:8495312 AT
AT
 A
A
 10 a0001c0002t0018g0002
a0001c0003t0004g0021
a0001c0004t0010g0142
others(7): Show 
a0001c0002t0018g0002
a0001c0003t0004g0021
a0001c0004t0010g0142
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0006c0025t0007g0025
 10 HG01192.hp1
HG02280.hp1
HG02451.hp2
others(7): Show 
HG01192.hp1
HG02280.hp1
HG02451.hp2
HG02559.hp1
HG02647.hp2
HG02723.hp2
HG02809.hp2
HG02965.hp1
HG03540.hp2
HG03579.hp2
 intron_variant MODIFIER c.1005-151delA
c.1005-151delA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 9/22 chr1 8495312
chr1:8495337 T
T
 C
C
 1 a0002c0006t0003g0089
a0002c0006t0003g0089
 1 HG02132.hp1
HG02132.hp1
 intron_variant MODIFIER c.1005-175A>G
c.1005-175A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 9/22 chr1 8495337
chr1:8495511 A
A
 C
C
 1 a0001c0003t0015g0147
a0001c0003t0015g0147
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.1005-349T>G
c.1005-349T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 9/22 chr1 8495511
chr1:8495656 T
T
 C
C
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.1005-494A>G
c.1005-494A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 9/22 chr1 8495656
chr1:8495683 T
T
 C
C
 1 a0001c0002t0002g0168
a0001c0002t0002g0168
 1 HG00741.hp1
HG00741.hp1
 intron_variant MODIFIER c.1005-521A>G
c.1005-521A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 9/22 chr1 8495683
chr1:8495996 A
A
 T
T
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.1005-834T>A
c.1005-834T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 9/22 chr1 8495996
chr1:8496064 G
G
 A
A
 1 a0002c0006t0003g0090
a0002c0006t0003g0090
 1 HG02165.hp1
HG02165.hp1
 intron_variant MODIFIER c.1005-902C>T
c.1005-902C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 9/22 chr1 8496064
chr1:8496150 T
T
 TAAAAAAA
others(2): Show 
TAAAAAAAAA
 5 a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
others(2): Show 
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
 5 HG02109.hp1
HG02257.hp2
HG02818.hp1
others(2): Show 
HG02109.hp1
HG02257.hp2
HG02818.hp1
HG03209.hp1
HG03516.hp1
 intron_variant MODIFIER c.1005-997_1005-989d
others(11): Show 
c.1005-997_1005-989dupTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 9/22 chr1 8496150
chr1:8496150 T
T
 TAAAAAAA
others(11): Show 
TAAAAAAAAAAAAAAAAAA
 1 a0007c0020t0039g0197
a0007c0020t0039g0197
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.1005-1006_1005-989
others(21): Show 
c.1005-1006_1005-989dupTTTTTTTTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 9/22 chr1 8496150
chr1:8496150 T
T
 TAAAAAAA
others(12): Show 
TAAAAAAAAAAAAAAAAAAA
 1 a0001c0004t0040g0199
a0001c0004t0040g0199
 1 HG02970.hp2
HG02970.hp2
 intron_variant MODIFIER c.1005-1007_1005-989
others(22): Show 
c.1005-1007_1005-989dupTTTTTTTTTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 9/22 chr1 8496150
chr1:8496150 T
T
 TAAAAAAA
others(21): Show 
TAAAAAAAAAAAAAAAAAAAAAAAAAAAA
 1 a0001c0009t0041g0198
a0001c0009t0041g0198
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.1005-989_1005-988i
others(30): Show 
c.1005-989_1005-988insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 9/22 chr1 8496150
chr1:8496150 TA
TA
 T
T
 9 a0001c0002t0002g0165
a0001c0002t0005g0116
a0001c0002t0005g0128
others(6): Show 
a0001c0002t0002g0165
a0001c0002t0005g0116
a0001c0002t0005g0128
a0001c0003t0004g0041
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0034
a0001c0023t0002g0175
a0004c0012t0008g0138
 9 HG00639.hp1
HG01168.hp2
HG01255.hp1
others(6): Show 
HG00639.hp1
HG01168.hp2
HG01255.hp1
HG01884.hp1
HG02965.hp1
HG02976.hp2
NA18939.hp1
NA18939.hp2
NA19085.hp1
 intron_variant MODIFIER c.1005-989delT
c.1005-989delT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 9/22 chr1 8496150
chr1:8496150 TAA
TAA
 T
T
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0142
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0005t0026g0127
a0001c0005t0034g0156
 6 HG02622.hp1
HG02965.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02965.hp2
HG03130.hp1
HG03579.hp1
HG03579.hp2
NA21309.hp1
 intron_variant MODIFIER c.1005-990_1005-989d
others(4): Show 
c.1005-990_1005-989delTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 9/22 chr1 8496150
chr1:8496170 G
G
 A
A
 2 a0005c0013t0021g0023
a0005c0013t0029g0111
a0005c0013t0021g0023
a0005c0013t0029g0111
 2 HG03041.hp1
HG03471.hp1
HG03041.hp1
HG03471.hp1
 intron_variant MODIFIER c.1005-1008C>T
c.1005-1008C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 9/22 chr1 8496170
chr1:8496331 G
G
 C
C
 1 a0001c0003t0008g0105
a0001c0003t0008g0105
 1 HG00741.hp2
HG00741.hp2
 intron_variant MODIFIER c.1004+1074C>G
c.1004+1074C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 9/22 chr1 8496331
chr1:8496485 A
A
 G
G
 89 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(86): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0006c0025t0007g0025
 89 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(86): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03453.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1004+920T>C
c.1004+920T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 9/22 chr1 8496485
chr1:8496500 C
C
 CA
CA
 40 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(37): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0004c0012t0008g0137
a0004c0012t0008g0138
a0008c0017t0003g0101
a0010c0027t0003g0086
 40 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(37): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02735.hp2
HG02976.hp2
HG03195.hp1
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.1004+904dupT
c.1004+904dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 9/22 chr1 8496500
chr1:8496502 AAAAAAAA
others(10): Show 
AAAAAAAAAGAAAAAAAG
 A
A
 1 a0001c0003t0004g0014
a0001c0003t0004g0014
 1 HG01358.hp2
HG01358.hp2
 intron_variant MODIFIER c.1004+886_1004+902d
others(19): Show 
c.1004+886_1004+902delCTTTTTTTCTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 9/22 chr1 8496502
chr1:8496550 G
G
 A
A
 1 a0001c0002t0002g0157
a0001c0002t0002g0157
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.1004+855C>T
c.1004+855C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 9/22 chr1 8496550
chr1:8496664 ACCGCTCT
others(7): Show 
ACCGCTCTGTGGTGC
 A
A
 1 a0001c0005t0026g0127
a0001c0005t0026g0127
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.1004+727_1004+740d
others(16): Show 
c.1004+727_1004+740delGCACCACAGAGCGG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 9/22 chr1 8496664
chr1:8496692 T
T
 G
G
 1 a0001c0004t0003g0109
a0001c0004t0003g0109
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.1004+713A>C
c.1004+713A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 9/22 chr1 8496692
chr1:8496893 A
A
 C
C
 40 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(37): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0004c0012t0008g0137
a0004c0012t0008g0138
a0008c0017t0003g0101
a0010c0027t0003g0086
 40 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(37): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02735.hp2
HG02976.hp2
HG03195.hp1
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.1004+512T>G
c.1004+512T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 9/22 chr1 8496893
chr1:8496945 A
A
 G
G
 5 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0014g0126
others(2): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0014g0126
a0001c0005t0026g0127
a0001c0005t0034g0156
 5 HG02622.hp1
HG02965.hp2
HG03130.hp1
others(2): Show 
HG02622.hp1
HG02965.hp2
HG03130.hp1
HG03579.hp1
NA21309.hp1
 intron_variant MODIFIER c.1004+460T>C
c.1004+460T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 9/22 chr1 8496945
chr1:8497260 C
C
 G
G
 89 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(86): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0006c0025t0007g0025
 89 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(86): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03453.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1004+145G>C
c.1004+145G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 9/22 chr1 8497260
chr1:8497262 C
C
 T
T
 1 a0001c0001t0006g0154
a0001c0001t0006g0154
 1 NA20300.hp2
NA20300.hp2
 intron_variant MODIFIER c.1004+143G>A
c.1004+143G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 9/22 chr1 8497262
chr1:8497614 T
T
 C
C
 12 a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
others(9): Show 
a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0004t0022g0121
a0009c0021t0003g0135
 12 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(9): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03225.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.880-85A>G
c.880-85A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8497614
chr1:8497631 A
A
 C
C
 120 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(117): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0002g0157
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0006c0025t0007g0025
a0007c0020t0039g0197
a0009c0021t0003g0135
 120 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(117): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01884.hp1
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.880-102T>G
c.880-102T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8497631
chr1:8498009 A
A
 G
G
 9 a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
others(6): Show 
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0009c0021t0003g0135
 9 HG01175.hp2
HG01884.hp1
HG02109.hp2
others(6): Show 
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03225.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.880-480T>C
c.880-480T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8498009
chr1:8498232 G
G
 A
A
 40 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(37): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0004c0012t0008g0137
a0004c0012t0008g0138
a0008c0017t0003g0101
a0010c0027t0003g0086
 40 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(37): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02735.hp2
HG02976.hp2
HG03195.hp1
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.880-703C>T
c.880-703C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8498232
chr1:8498448 C
C
 T
T
 2 a0001c0004t0014g0126
a0001c0005t0026g0127
a0001c0004t0014g0126
a0001c0005t0026g0127
 2 HG02965.hp2
NA21309.hp1
HG02965.hp2
NA21309.hp1
 intron_variant MODIFIER c.880-919G>A
c.880-919G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8498448
chr1:8498695 C
C
 CA
CA
 7 a0001c0001t0001g0074
a0001c0002t0005g0125
a0001c0004t0014g0126
others(4): Show 
a0001c0001t0001g0074
a0001c0002t0005g0125
a0001c0004t0014g0126
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
 7 HG02647.hp1
HG02965.hp2
HG02970.hp1
others(4): Show 
HG02647.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03139.hp2
HG03453.hp1
 intron_variant MODIFIER c.880-1167dupT
c.880-1167dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8498695
chr1:8498700 A
A
 T
T
 1 a0001c0003t0004g0017
a0001c0003t0004g0017
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.880-1171T>A
c.880-1171T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8498700
chr1:8498702 A
A
 T
T
 3 a0001c0002t0002g0148
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0148
a0001c0002t0002g0158
a0001c0002t0002g0159
 3 HG03654.hp1
HG04184.hp1
NA20752.hp1
HG03654.hp1
HG04184.hp1
NA20752.hp1
 intron_variant MODIFIER c.880-1173T>A
c.880-1173T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8498702
chr1:8498703 A
A
 T
T
 14 a0001c0001t0003g0122
a0001c0001t0006g0153
a0001c0001t0006g0154
others(11): Show 
a0001c0001t0003g0122
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0004t0022g0121
a0009c0021t0003g0135
 14 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(11): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp2
NA18906.hp2
NA20300.hp2
 intron_variant MODIFIER c.880-1174T>A
c.880-1174T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8498703
chr1:8498705 A
A
 T
T
 38 a0001c0001t0001g0037
a0001c0003t0004g0007
a0001c0003t0004g0010
others(35): Show 
a0001c0001t0001g0037
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0002c0006t0003g0139
a0002c0026t0008g0140
a0006c0025t0007g0025
 38 HG00140.hp1
HG00544.hp2
HG00639.hp2
others(35): Show 
HG00140.hp1
HG00544.hp2
HG00639.hp2
HG00741.hp2
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG01358.hp2
HG01361.hp2
HG01981.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02602.hp2
HG02622.hp2
HG02647.hp2
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG03130.hp2
HG03540.hp2
HG03654.hp2
HG03831.hp1
HG04115.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18946.hp1
NA18973.hp1
NA18993.hp1
NA19009.hp2
NA19043.hp2
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.880-1176T>A
c.880-1176T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8498705
chr1:8498710 T
T
 A
A
 1 a0001c0004t0014g0126
a0001c0004t0014g0126
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.880-1181A>T
c.880-1181A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8498710
chr1:8498710 TA
TA
 T
T
 17 a0001c0001t0038g0195
a0001c0002t0002g0158
a0001c0002t0002g0169
others(14): Show 
a0001c0001t0038g0195
a0001c0002t0002g0158
a0001c0002t0002g0169
a0001c0002t0002g0193
a0001c0002t0005g0110
a0001c0004t0003g0109
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0005c0013t0021g0023
a0005c0013t0029g0111
a0007c0020t0039g0197
 17 HG01358.hp1
HG01515.hp1
HG02109.hp1
others(14): Show 
HG01358.hp1
HG01515.hp1
HG02109.hp1
HG02132.hp2
HG02145.hp1
HG02257.hp2
HG02723.hp1
HG02818.hp1
HG02886.hp2
HG03041.hp1
HG03209.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp1
HG03654.hp1
HG06807.hp1
NA21309.hp2
 intron_variant MODIFIER c.880-1182delT
c.880-1182delT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8498710
chr1:8498715 A
A
 T
T
 89 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(86): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0006c0025t0007g0025
 89 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(86): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03453.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.880-1186T>A
c.880-1186T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8498715
chr1:8498716 A
A
 T
T
 17 a0001c0001t0003g0122
a0001c0001t0006g0153
a0001c0001t0006g0154
others(14): Show 
a0001c0001t0003g0122
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0002t0002g0157
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0004t0010g0120
a0001c0004t0022g0121
a0001c0005t0034g0156
a0009c0021t0003g0135
 17 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(14): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02622.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03130.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp2
HG03579.hp1
NA18906.hp2
NA20300.hp2
 intron_variant MODIFIER c.880-1187T>A
c.880-1187T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8498716
chr1:8498717 A
A
 T
T
 2 a0001c0001t0003g0118
a0001c0004t0003g0109
a0001c0001t0003g0118
a0001c0004t0003g0109
 2 HG02523.hp2
NA21309.hp2
HG02523.hp2
NA21309.hp2
 intron_variant MODIFIER c.880-1188T>A
c.880-1188T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8498717
chr1:8498720 A
A
 T
T
 3 a0001c0001t0001g0073
a0002c0006t0003g0139
a0002c0026t0008g0140
a0001c0001t0001g0073
a0002c0006t0003g0139
a0002c0026t0008g0140
 3 HG01361.hp2
HG01981.hp1
HG03139.hp1
HG01361.hp2
HG01981.hp1
HG03139.hp1
 intron_variant MODIFIER c.880-1191T>A
c.880-1191T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8498720
chr1:8498730 T
T
 C
C
 2 a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0002t0018g0002
a0001c0004t0010g0142
 2 HG02559.hp1
HG03579.hp2
HG02559.hp1
HG03579.hp2
 intron_variant MODIFIER c.880-1201A>G
c.880-1201A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8498730
chr1:8498730 T
T
 TACACACA
others(3): Show 
TACACACACAC
 2 a0001c0002t0002g0157
a0001c0009t0041g0198
a0001c0002t0002g0157
a0001c0009t0041g0198
 2 HG02145.hp1
HG03130.hp1
HG02145.hp1
HG03130.hp1
 intron_variant MODIFIER c.880-1202_880-1201i
others(12): Show 
c.880-1202_880-1201insGTGTGTGTGT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8498730
chr1:8498730 T
T
 TACACACA
others(7): Show 
TACACACACACACAC
 2 a0001c0002t0032g0155
a0001c0004t0014g0126
a0001c0002t0032g0155
a0001c0004t0014g0126
 2 HG02965.hp2
HG03579.hp1
HG02965.hp2
HG03579.hp1
 intron_variant MODIFIER c.880-1202_880-1201i
others(16): Show 
c.880-1202_880-1201insGTGTGTGTGTGTGT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8498730
chr1:8498730 T
T
 TACACACA
others(11): Show 
TACACACACACACACACAC
 1 a0003c0008t0001g0006
a0003c0008t0001g0006
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.880-1202_880-1201i
others(20): Show 
c.880-1202_880-1201insGTGTGTGTGTGTGTGTGT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8498730
chr1:8498732 T
T
 C
C
 9 a0001c0002t0002g0157
a0001c0002t0018g0002
a0001c0002t0032g0155
others(6): Show 
a0001c0002t0002g0157
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0009t0041g0198
a0003c0008t0001g0006
 9 HG02145.hp1
HG02559.hp1
HG02622.hp1
others(6): Show 
HG02145.hp1
HG02559.hp1
HG02622.hp1
HG02965.hp2
HG02970.hp1
HG03130.hp1
HG03579.hp1
HG03579.hp2
NA21309.hp1
 intron_variant MODIFIER c.880-1203A>G
c.880-1203A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8498732
chr1:8498732 T
T
 TAC
TAC
 4 a0001c0002t0002g0158
a0001c0002t0002g0187
a0001c0003t0011g0112
others(1): Show 
a0001c0002t0002g0158
a0001c0002t0002g0187
a0001c0003t0011g0112
a0009c0021t0003g0135
 4 HG01175.hp2
HG02683.hp2
HG03654.hp1
others(1): Show 
HG01175.hp2
HG02683.hp2
HG03654.hp1
HG04228.hp1
 intron_variant MODIFIER c.880-1205_880-1204d
others(4): Show 
c.880-1205_880-1204dupGT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8498732
chr1:8498732 T
T
 TACAC
TACAC
 13 a0001c0001t0003g0115
a0001c0001t0003g0122
a0001c0002t0002g0152
others(10): Show 
a0001c0001t0003g0115
a0001c0001t0003g0122
a0001c0002t0002g0152
a0001c0002t0002g0162
a0001c0002t0002g0168
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0177
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0004t0022g0121
a0001c0024t0002g0182
 13 HG00597.hp1
HG00741.hp1
HG01167.hp1
others(10): Show 
HG00597.hp1
HG00741.hp1
HG01167.hp1
HG01515.hp2
HG01517.hp1
HG02145.hp2
HG02257.hp1
HG02559.hp2
HG02886.hp1
HG02896.hp2
HG03209.hp2
HG03540.hp1
NA18906.hp2
 intron_variant MODIFIER c.880-1207_880-1204d
others(6): Show 
c.880-1207_880-1204dupGTGT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8498732
chr1:8498732 T
T
 TACACAC
TACACAC
 19 a0001c0001t0001g0064
a0001c0002t0002g0149
a0001c0002t0002g0150
others(16): Show 
a0001c0001t0001g0064
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0169
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0005g0116
a0001c0002t0005g0128
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0035g0160
a0001c0023t0002g0175
 19 HG00597.hp2
HG00639.hp1
HG01261.hp2
others(16): Show 
HG00597.hp2
HG00639.hp1
HG01261.hp2
HG01884.hp1
HG01981.hp2
HG02080.hp2
HG02109.hp2
HG02132.hp2
HG02602.hp1
HG02818.hp2
HG03516.hp2
HG03669.hp2
HG04199.hp1
NA18939.hp2
NA18946.hp2
NA18967.hp2
NA19070.hp1
NA19085.hp1
NA20752.hp1
 intron_variant MODIFIER c.880-1209_880-1204d
others(8): Show 
c.880-1209_880-1204dupGTGTGT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8498732
chr1:8498732 T
T
 TACACACA
others(1): Show 
TACACACAC
 16 a0001c0001t0003g0087
a0001c0001t0003g0102
a0001c0001t0030g0143
others(13): Show 
a0001c0001t0003g0087
a0001c0001t0003g0102
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0002t0002g0148
a0001c0002t0002g0161
a0001c0002t0002g0164
a0001c0002t0005g0110
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0003t0011g0096
a0001c0004t0003g0109
a0001c0004t0027g0106
a0001c0005t0009g0201
a0001c0022t0008g0082
 16 HG00280.hp2
HG02027.hp2
HG02074.hp1
others(13): Show 
HG00280.hp2
HG02027.hp2
HG02074.hp1
HG02129.hp1
HG02155.hp2
HG02257.hp2
HG02723.hp1
HG02809.hp1
HG02886.hp2
HG03225.hp1
HG03471.hp2
HG03669.hp1
HG03688.hp2
HG04184.hp1
NA18993.hp2
NA21309.hp2
 intron_variant MODIFIER c.880-1211_880-1204d
others(10): Show 
c.880-1211_880-1204dupGTGTGTGT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8498732
chr1:8498732 T
T
 TACACACA
others(3): Show 
TACACACACAC
 11 a0001c0001t0003g0118
a0001c0001t0038g0195
a0001c0002t0002g0183
others(8): Show 
a0001c0001t0003g0118
a0001c0001t0038g0195
a0001c0002t0002g0183
a0001c0002t0005g0114
a0001c0003t0004g0068
a0001c0003t0008g0085
a0001c0005t0009g0202
a0001c0011t0007g0029
a0001c0019t0014g0119
a0005c0013t0021g0023
a0010c0027t0003g0086
 11 HG01515.hp1
HG01934.hp1
HG01934.hp2
others(8): Show 
HG01515.hp1
HG01934.hp1
HG01934.hp2
HG02004.hp1
HG02109.hp1
HG02258.hp2
HG02280.hp1
HG02523.hp2
HG03195.hp2
HG03471.hp1
NA18985.hp1
 intron_variant MODIFIER c.880-1213_880-1204d
others(12): Show 
c.880-1213_880-1204dupGTGTGTGTGT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8498732
chr1:8498732 T
T
 TACACACA
others(5): Show 
TACACACACACAC
 25 a0001c0001t0001g0004
a0001c0001t0001g0033
a0001c0001t0003g0088
others(22): Show 
a0001c0001t0001g0004
a0001c0001t0001g0033
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0103
a0001c0001t0003g0117
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0037g0196
a0001c0002t0002g0163
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0005t0009g0203
a0001c0007t0003g0099
a0001c0011t0007g0027
a0001c0011t0007g0028
a0002c0006t0003g0089
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0004c0012t0008g0137
a0007c0020t0039g0197
a0008c0017t0003g0101
 25 HG00544.hp1
HG01433.hp2
HG01496.hp1
others(22): Show 
HG00544.hp1
HG01433.hp2
HG01496.hp1
HG01517.hp2
HG01884.hp2
HG02132.hp1
HG02293.hp1
HG02451.hp1
HG02451.hp2
HG02723.hp2
HG02735.hp2
HG03195.hp1
HG03209.hp1
HG06807.hp1
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA19002.hp2
NA19007.hp2
NA19074.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.880-1215_880-1204d
others(14): Show 
c.880-1215_880-1204dupGTGTGTGTGTGT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8498732
chr1:8498732 T
T
 TACACACA
others(7): Show 
TACACACACACACAC
 12 a0001c0001t0001g0069
a0001c0001t0006g0181
a0001c0004t0001g0049
others(9): Show 
a0001c0001t0001g0069
a0001c0001t0006g0181
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0010g0107
a0001c0004t0040g0199
a0001c0007t0001g0008
a0001c0007t0003g0084
a0002c0006t0003g0090
a0003c0008t0001g0071
a0004c0012t0008g0138
a0005c0013t0029g0111
 12 HG00609.hp2
HG01433.hp1
HG02165.hp1
others(9): Show 
HG00609.hp2
HG01433.hp1
HG02165.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03453.hp2
HG03831.hp1
HG04115.hp1
NA18983.hp1
NA19000.hp2
 intron_variant MODIFIER c.880-1217_880-1204d
others(16): Show 
c.880-1217_880-1204dupGTGTGTGTGTGTGT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8498732
chr1:8498732 T
T
 TACACACA
others(9): Show 
TACACACACACACACAC
 5 a0001c0001t0003g0104
a0001c0002t0006g0145
a0001c0004t0006g0146
others(2): Show 
a0001c0001t0003g0104
a0001c0002t0006g0145
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0005t0009g0204
 5 HG00609.hp1
HG02818.hp1
HG03491.hp1
others(2): Show 
HG00609.hp1
HG02818.hp1
HG03491.hp1
HG04228.hp2
NA19043.hp1
 intron_variant MODIFIER c.880-1219_880-1204d
others(18): Show 
c.880-1219_880-1204dupGTGTGTGTGTGTGTGT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8498732
chr1:8498732 T
T
 TACACACA
others(11): Show 
TACACACACACACACACAC
 2 a0001c0005t0009g0200
a0001c0007t0003g0098
a0001c0005t0009g0200
a0001c0007t0003g0098
 2 HG03516.hp1
NA19000.hp1
HG03516.hp1
NA19000.hp1
 intron_variant MODIFIER c.880-1221_880-1204d
others(20): Show 
c.880-1221_880-1204dupGTGTGTGTGTGTGTGTGT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8498732
chr1:8498732 T
T
 TATAC
TATAC
 4 a0001c0001t0001g0037
a0001c0005t0019g0030
a0001c0010t0007g0026
others(1): Show 
a0001c0001t0001g0037
a0001c0005t0019g0030
a0001c0010t0007g0026
a0001c0016t0020g0001
 4 HG02647.hp2
HG03130.hp2
NA18906.hp1
others(1): Show 
HG02647.hp2
HG03130.hp2
NA18906.hp1
NA20129.hp2
 intron_variant MODIFIER c.880-1204_880-1203i
others(6): Show 
c.880-1204_880-1203insGTAT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8498732
chr1:8498732 T
T
 TATACAC
TATACAC
 5 a0001c0001t0001g0048
a0001c0001t0001g0070
a0001c0001t0001g0076
others(2): Show 
a0001c0001t0001g0048
a0001c0001t0001g0070
a0001c0001t0001g0076
a0002c0006t0003g0139
a0002c0026t0008g0140
 5 HG01361.hp2
HG01981.hp1
NA19009.hp1
others(2): Show 
HG01361.hp2
HG01981.hp1
NA19009.hp1
NA19085.hp2
NA19090.hp1
 intron_variant MODIFIER c.880-1204_880-1203i
others(8): Show 
c.880-1204_880-1203insGTGTAT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8498732
chr1:8498732 T
T
 TATACACA
others(1): Show 
TATACACAC
 10 a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0003t0004g0017
others(7): Show 
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0003t0004g0017
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0009t0004g0020
a0006c0025t0007g0025
 10 HG00140.hp1
HG01168.hp2
HG02280.hp2
others(7): Show 
HG00140.hp1
HG01168.hp2
HG02280.hp2
HG02809.hp2
HG02976.hp1
HG04115.hp2
NA18939.hp1
NA18993.hp1
NA19007.hp1
NA19043.hp2
 intron_variant MODIFIER c.880-1204_880-1203i
others(10): Show 
c.880-1204_880-1203insGTGTGTAT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8498732
chr1:8498732 T
T
 TATACACA
others(3): Show 
TATACACACAC
 23 a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
others(20): Show 
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0003t0004g0007
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0008g0105
a0001c0003t0012g0018
a0001c0004t0005g0123
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0015t0001g0009
a0001c0018t0001g0005
 23 HG00140.hp2
HG00544.hp2
HG00639.hp2
others(20): Show 
HG00140.hp2
HG00544.hp2
HG00639.hp2
HG00741.hp2
HG01192.hp1
HG01255.hp1
HG01358.hp2
HG01496.hp2
HG02155.hp1
HG02165.hp2
HG02602.hp2
HG02622.hp2
HG02896.hp1
HG02965.hp1
HG03453.hp1
HG03540.hp2
HG03654.hp2
HG03688.hp1
NA18946.hp1
NA18973.hp1
NA18985.hp2
NA19002.hp1
NA19070.hp2
 intron_variant MODIFIER c.880-1204_880-1203i
others(12): Show 
c.880-1204_880-1203insGTGTGTGTAT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8498732
chr1:8498732 T
T
 TATACACA
others(5): Show 
TATACACACACAC
 20 a0001c0001t0001g0015
a0001c0001t0001g0038
a0001c0001t0001g0039
others(17): Show 
a0001c0001t0001g0015
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0066
a0001c0001t0001g0075
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0002t0013g0053
a0001c0003t0004g0010
a0001c0003t0004g0036
a0001c0003t0004g0078
a0001c0004t0001g0003
a0001c0007t0004g0044
a0002c0006t0024g0081
 20 HG00280.hp1
HG01167.hp2
HG01169.hp2
others(17): Show 
HG00280.hp1
HG01167.hp2
HG01169.hp2
HG02004.hp2
HG02027.hp1
HG02258.hp1
HG02486.hp2
HG02523.hp1
HG02698.hp1
HG02698.hp2
HG04184.hp2
NA18944.hp1
NA18964.hp2
NA18967.hp1
NA18983.hp2
NA19005.hp2
NA19009.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.880-1204_880-1203i
others(14): Show 
c.880-1204_880-1203insGTGTGTGTGTAT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8498732
chr1:8498732 T
T
 TATACACA
others(7): Show 
TATACACACACACAC
 5 a0001c0001t0001g0043
a0001c0001t0001g0055
a0001c0001t0001g0065
others(2): Show 
a0001c0001t0001g0043
a0001c0001t0001g0055
a0001c0001t0001g0065
a0001c0001t0001g0073
a0001c0001t0003g0124
 5 HG02074.hp2
HG02080.hp1
HG03139.hp1
others(2): Show 
HG02074.hp2
HG02080.hp1
HG03139.hp1
HG03491.hp2
HG04199.hp2
 intron_variant MODIFIER c.880-1204_880-1203i
others(16): Show 
c.880-1204_880-1203insGTGTGTGTGTGTAT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8498732
chr1:8498732 T
T
 TATACACA
others(9): Show 
TATACACACACACACAC
 6 a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0059
others(3): Show 
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0059
a0001c0001t0001g0067
a0003c0008t0001g0031
a0003c0008t0001g0072
 6 HG01261.hp1
HG02129.hp2
HG02647.hp1
others(3): Show 
HG01261.hp1
HG02129.hp2
HG02647.hp1
HG03139.hp2
HG03831.hp2
NA19005.hp1
 intron_variant MODIFIER c.880-1204_880-1203i
others(18): Show 
c.880-1204_880-1203insGTGTGTGTGTGTGTAT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8498732
chr1:8498732 T
T
 TATATACA
others(9): Show 
TATATACACACACACAC
 2 a0001c0001t0001g0013
a0001c0001t0003g0141
a0001c0001t0001g0013
a0001c0001t0003g0141
 2 HG01192.hp2
HG02683.hp1
HG01192.hp2
HG02683.hp1
 intron_variant MODIFIER c.880-1204_880-1203i
others(18): Show 
c.880-1204_880-1203insGTGTGTGTGTGTATAT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8498732
chr1:8498732 TACAC
TACAC
 T
T
 2 a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0002g0192
a0001c0002t0002g0193
 2 HG01175.hp1
HG01358.hp1
HG01175.hp1
HG01358.hp1
 intron_variant MODIFIER c.880-1207_880-1204d
others(6): Show 
c.880-1207_880-1204delGTGT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8498732
chr1:8498732 TACACACA
others(5): Show 
TACACACACACAC
 T
T
 1 a0001c0002t0033g0186
a0001c0002t0033g0186
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.880-1215_880-1204d
others(14): Show 
c.880-1215_880-1204delGTGTGTGTGTGT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8498732
chr1:8498768 CAT
CAT
 C
C
 2 a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0153
a0001c0001t0006g0154
 2 HG03225.hp2
NA20300.hp2
HG03225.hp2
NA20300.hp2
 intron_variant MODIFIER c.880-1241_880-1240d
others(4): Show 
c.880-1241_880-1240delAT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8498768
chr1:8498770 T
T
 C
C
 22 a0001c0001t0003g0102
a0001c0001t0003g0122
a0001c0001t0030g0143
others(19): Show 
a0001c0001t0003g0102
a0001c0001t0003g0122
a0001c0001t0030g0143
a0001c0002t0005g0110
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0003t0011g0108
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0022g0121
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0009c0021t0003g0135
 22 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(19): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02559.hp1
HG02647.hp1
HG02723.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02970.hp1
HG03041.hp2
HG03139.hp2
HG03225.hp1
HG03471.hp2
HG03579.hp2
HG03688.hp2
HG06807.hp2
NA18906.hp2
 intron_variant MODIFIER c.880-1241A>G
c.880-1241A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8498770
chr1:8498772 T
T
 C
C
 21 a0001c0001t0003g0102
a0001c0001t0003g0122
a0001c0001t0006g0153
others(18): Show 
a0001c0001t0003g0102
a0001c0001t0003g0122
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0030g0143
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0022g0121
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0009c0021t0003g0135
 21 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(18): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02559.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02970.hp1
HG03041.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp2
HG03579.hp2
HG03688.hp2
NA18906.hp2
NA20300.hp2
 intron_variant MODIFIER c.880-1243A>G
c.880-1243A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8498772
chr1:8498816 T
T
 G
G
 170 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(167): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0152
a0001c0002t0002g0157
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0177
a0001c0002t0002g0179
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 170 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(167): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.880-1287A>C
c.880-1287A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8498816
chr1:8499064 C
C
 T
T
 2 a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0153
a0001c0001t0006g0154
 2 HG03225.hp2
NA20300.hp2
HG03225.hp2
NA20300.hp2
 intron_variant MODIFIER c.880-1535G>A
c.880-1535G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8499064
chr1:8499473 CCAGGGAA
others(5): Show 
CCAGGGAATGCTG
 C
C
 3 a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
 3 HG02280.hp1
HG02451.hp2
HG02723.hp2
HG02280.hp1
HG02451.hp2
HG02723.hp2
 intron_variant MODIFIER c.880-1956_880-1945d
others(14): Show 
c.880-1956_880-1945delCAGCATTCCCTG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8499473
chr1:8499600 G
G
 A
A
 31 a0001c0001t0001g0037
a0001c0003t0004g0007
a0001c0003t0004g0010
others(28): Show 
a0001c0001t0001g0037
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0015t0001g0009
a0001c0016t0020g0001
a0002c0006t0003g0139
a0002c0026t0008g0140
 31 HG00140.hp1
HG00544.hp2
HG00639.hp2
others(28): Show 
HG00140.hp1
HG00544.hp2
HG00639.hp2
HG00741.hp2
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG01358.hp2
HG01361.hp2
HG01981.hp1
HG02258.hp2
HG02280.hp2
HG02602.hp2
HG02622.hp2
HG02683.hp2
HG02698.hp1
HG02896.hp1
HG03130.hp2
HG03654.hp2
HG03831.hp1
HG04115.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18946.hp1
NA18973.hp1
NA18993.hp1
NA19009.hp2
NA19043.hp2
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.880-2071C>T
c.880-2071C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8499600
chr1:8499634 C
C
 T
T
 1 a0001c0001t0030g0143
a0001c0001t0030g0143
 1 HG02155.hp2
HG02155.hp2
 intron_variant MODIFIER c.880-2105G>A
c.880-2105G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8499634
chr1:8499815 T
T
 C
C
 2 a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0002t0018g0002
a0001c0004t0010g0142
 2 HG02559.hp1
HG03579.hp2
HG02559.hp1
HG03579.hp2
 intron_variant MODIFIER c.880-2286A>G
c.880-2286A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8499815
chr1:8499956 C
C
 G
G
 1 a0001c0003t0004g0011
a0001c0003t0004g0011
 1 NA18946.hp1
NA18946.hp1
 intron_variant MODIFIER c.880-2427G>C
c.880-2427G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8499956
chr1:8499981 G
G
 A
A
 2 a0005c0013t0021g0023
a0005c0013t0029g0111
a0005c0013t0021g0023
a0005c0013t0029g0111
 2 HG03041.hp1
HG03471.hp1
HG03041.hp1
HG03471.hp1
 intron_variant MODIFIER c.880-2452C>T
c.880-2452C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8499981
chr1:8499989 A
A
 G
G
 15 a0001c0002t0002g0157
a0001c0002t0018g0002
a0001c0002t0032g0155
others(12): Show 
a0001c0002t0002g0157
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0009t0041g0198
a0007c0020t0039g0197
 15 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(12): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02559.hp1
HG02622.hp1
HG02818.hp1
HG02965.hp2
HG02970.hp2
HG03130.hp1
HG03209.hp1
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG06807.hp1
NA21309.hp1
 intron_variant MODIFIER c.880-2460T>C
c.880-2460T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8499989
chr1:8500261 T
T
 C
C
 1 a0002c0026t0008g0140
a0002c0026t0008g0140
 1 HG01981.hp1
HG01981.hp1
 intron_variant MODIFIER c.880-2732A>G
c.880-2732A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8500261
chr1:8500266 C
C
 T
T
 1 a0001c0001t0001g0015
a0001c0001t0001g0015
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.880-2737G>A
c.880-2737G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8500266
chr1:8500306 C
C
 A
A
 40 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(37): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0004c0012t0008g0137
a0004c0012t0008g0138
a0008c0017t0003g0101
a0010c0027t0003g0086
 40 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(37): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02735.hp2
HG02976.hp2
HG03195.hp1
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.880-2777G>T
c.880-2777G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8500306
chr1:8500367 T
T
 C
C
 1 a0002c0006t0003g0139
a0002c0006t0003g0139
 1 HG01361.hp2
HG01361.hp2
 intron_variant MODIFIER c.880-2838A>G
c.880-2838A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8500367
chr1:8500401 C
C
 T
T
 12 a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
others(9): Show 
a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0004t0022g0121
a0009c0021t0003g0135
 12 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(9): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03225.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.880-2872G>A
c.880-2872G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8500401
chr1:8500422 G
G
 A
A
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.880-2893C>T
c.880-2893C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8500422
chr1:8500454 C
C
 T
T
 14 a0001c0001t0003g0122
a0001c0001t0006g0153
a0001c0001t0006g0154
others(11): Show 
a0001c0001t0003g0122
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0004t0022g0121
a0009c0021t0003g0135
 14 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(11): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp2
NA18906.hp2
NA20300.hp2
 intron_variant MODIFIER c.880-2925G>A
c.880-2925G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8500454
chr1:8500479 T
T
 A
A
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.880-2950A>T
c.880-2950A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8500479
chr1:8500491 C
C
 T
T
 3 a0001c0001t0016g0054
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0001t0016g0054
a0001c0001t0037g0196
a0001c0001t0038g0195
 3 HG01515.hp1
HG01517.hp2
HG02293.hp1
HG01515.hp1
HG01517.hp2
HG02293.hp1
 intron_variant MODIFIER c.880-2962G>A
c.880-2962G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8500491
chr1:8500586 T
T
 C
C
 89 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(86): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0006c0025t0007g0025
 89 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(86): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03453.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.880-3057A>G
c.880-3057A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8500586
chr1:8500594 C
C
 G
G
 1 a0001c0002t0005g0125
a0001c0002t0005g0125
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.880-3065G>C
c.880-3065G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8500594
chr1:8500668 C
C
 T
T
 1 a0001c0005t0026g0127
a0001c0005t0026g0127
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.880-3139G>A
c.880-3139G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8500668
chr1:8500822 GCCCTGTC
others(33): Show 
GCCCTGTCTGGGATGTGAGGAGCACCTCTGCTGGGCCGCAA
 G
G
 5 a0001c0001t0001g0074
a0003c0008t0001g0006
a0003c0008t0001g0031
others(2): Show 
a0001c0001t0001g0074
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
 5 HG02647.hp1
HG02970.hp1
HG02976.hp1
others(2): Show 
HG02647.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03139.hp2
 intron_variant MODIFIER c.880-3333_880-3294d
others(42): Show 
c.880-3333_880-3294delTTGCGGCCCAGCAGAGGTGCTCCTCACA
TCCCAGACAGGG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8500822
chr1:8500872 G
G
 A
A
 40 a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0056
others(37): Show 
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0015t0001g0009
a0001c0016t0020g0001
a0002c0006t0003g0139
a0002c0026t0008g0140
 40 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(37): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01496.hp2
HG01981.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02486.hp2
HG02602.hp2
HG02622.hp2
HG02683.hp2
HG02698.hp1
HG02896.hp1
HG03130.hp2
HG03654.hp2
HG03831.hp1
HG04115.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18946.hp1
NA18973.hp1
NA18993.hp1
NA19009.hp2
NA19043.hp2
NA20129.hp2
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.880-3343C>T
c.880-3343C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8500872
chr1:8500900 C
C
 G
G
 1 a0001c0005t0026g0127
a0001c0005t0026g0127
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.880-3371G>C
c.880-3371G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8500900
chr1:8500984 G
G
 A
A
 2 a0001c0001t0001g0060
a0001c0001t0001g0063
a0001c0001t0001g0060
a0001c0001t0001g0063
 2 HG00140.hp2
HG02486.hp2
HG00140.hp2
HG02486.hp2
 intron_variant MODIFIER c.880-3455C>T
c.880-3455C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8500984
chr1:8501019 ACCCCGTC
others(24): Show 
ACCCCGTCCGGGAGGGGGGGGGGGGGTCAGCC
 A
A
 12 a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
others(9): Show 
a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0004t0022g0121
a0009c0021t0003g0135
 12 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(9): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03225.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.880-3521_880-3491d
others(33): Show 
c.880-3521_880-3491delGGCTGACCCCCCCCCCCCCTCCCGGACG
GGG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501019
chr1:8501020 C
C
 T
T
 40 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(37): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0004c0012t0008g0137
a0004c0012t0008g0138
a0008c0017t0003g0101
a0010c0027t0003g0086
 40 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(37): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02735.hp2
HG02976.hp2
HG03195.hp1
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.880-3491G>A
c.880-3491G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501020
chr1:8501027 C
C
 CG
CG
 13 a0001c0001t0001g0052
a0001c0001t0001g0066
a0001c0001t0001g0076
others(10): Show 
a0001c0001t0001g0052
a0001c0001t0001g0066
a0001c0001t0001g0076
a0001c0003t0004g0007
a0001c0003t0004g0036
a0001c0003t0004g0068
a0001c0003t0008g0105
a0001c0004t0003g0092
a0001c0004t0014g0126
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0019t0014g0119
a0003c0008t0001g0031
 13 HG00741.hp2
HG01168.hp2
HG01255.hp1
others(10): Show 
HG00741.hp2
HG01168.hp2
HG01255.hp1
HG01433.hp1
HG02027.hp1
HG02258.hp2
HG02698.hp1
HG02965.hp2
HG03139.hp2
HG03195.hp2
HG03654.hp2
NA18983.hp2
NA19090.hp1
 intron_variant MODIFIER c.880-3499dupC
c.880-3499dupC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501027
chr1:8501027 C
C
 CGG
CGG
 5 a0001c0001t0001g0045
a0001c0003t0004g0035
a0001c0003t0004g0078
others(2): Show 
a0001c0001t0001g0045
a0001c0003t0004g0035
a0001c0003t0004g0078
a0001c0003t0017g0032
a0001c0007t0001g0008
 5 HG00639.hp2
HG03831.hp1
HG04115.hp2
others(2): Show 
HG00639.hp2
HG03831.hp1
HG04115.hp2
NA19002.hp1
NA19009.hp2
 intron_variant MODIFIER c.880-3500_880-3499d
others(4): Show 
c.880-3500_880-3499dupCC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501027
chr1:8501027 C
C
 CGGG
CGGG
 6 a0001c0001t0001g0064
a0001c0003t0004g0014
a0001c0003t0004g0021
others(3): Show 
a0001c0001t0001g0064
a0001c0003t0004g0014
a0001c0003t0004g0021
a0001c0003t0011g0112
a0001c0016t0020g0001
a0002c0026t0008g0140
 6 HG00597.hp2
HG01192.hp1
HG01358.hp2
others(3): Show 
HG00597.hp2
HG01192.hp1
HG01358.hp2
HG01981.hp1
HG02683.hp2
NA20129.hp2
 intron_variant MODIFIER c.880-3501_880-3499d
others(5): Show 
c.880-3501_880-3499dupCCC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501027
chr1:8501030 GA
GA
 G
G
 21 a0001c0001t0001g0043
a0001c0001t0001g0046
a0001c0001t0001g0048
others(18): Show 
a0001c0001t0001g0043
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0069
a0001c0001t0001g0077
a0001c0001t0003g0141
a0001c0002t0013g0053
a0001c0003t0004g0011
a0001c0003t0004g0019
a0001c0003t0012g0022
a0001c0004t0001g0049
a0001c0010t0007g0034
a0001c0011t0007g0027
a0001c0011t0007g0029
a0003c0008t0001g0006
a0003c0008t0001g0071
 21 HG00140.hp2
HG00609.hp2
HG01167.hp2
others(18): Show 
HG00140.hp2
HG00609.hp2
HG01167.hp2
HG01169.hp2
HG02074.hp2
HG02129.hp2
HG02165.hp2
HG02280.hp1
HG02683.hp1
HG02723.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp2
NA18946.hp1
NA18973.hp1
NA19000.hp2
NA19007.hp1
NA19043.hp2
NA19085.hp2
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.880-3502delT
c.880-3502delT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501030
chr1:8501031 A
A
 AG
AG
 16 a0001c0001t0001g0033
a0001c0002t0002g0148
a0001c0002t0002g0149
others(13): Show 
a0001c0001t0001g0033
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0157
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0167
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0005g0116
a0001c0002t0033g0186
a0001c0002t0035g0160
 16 HG00639.hp1
HG01884.hp2
HG01934.hp2
others(13): Show 
HG00639.hp1
HG01884.hp2
HG01934.hp2
HG02080.hp2
HG02293.hp2
HG02486.hp1
HG02602.hp1
HG02735.hp1
HG03130.hp1
HG03209.hp2
HG03654.hp1
HG03669.hp2
HG04184.hp1
HG04228.hp1
NA18967.hp2
NA20752.hp1
 intron_variant MODIFIER c.880-3503dupC
c.880-3503dupC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501031
chr1:8501031 A
A
 G
G
 96 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(93): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0059
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0073
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0124
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0006g0145
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0003g0092
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0014g0126
a0001c0004t0025g0080
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0031
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0008c0017t0003g0101
a0010c0027t0003g0086
 96 HG00140.hp1
HG00280.hp2
HG00544.hp1
others(93): Show 
HG00140.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00639.hp2
HG00741.hp2
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02293.hp1
HG02523.hp1
HG02523.hp2
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02683.hp2
HG02698.hp1
HG02735.hp2
HG02965.hp2
HG02976.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03491.hp1
HG03491.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp2
NA19043.hp1
NA19074.hp1
NA19074.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.880-3502T>C
c.880-3502T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501031
chr1:8501034 G
G
 GA
GA
 2 a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0002t0018g0002
a0001c0004t0010g0142
 2 HG02559.hp1
HG03579.hp2
HG02559.hp1
HG03579.hp2
 intron_variant MODIFIER c.880-3506_880-3505i
others(3): Show 
c.880-3506_880-3505insT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501034
chr1:8501035 G
G
 A
A
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.880-3506C>T
c.880-3506C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501035
chr1:8501043 G
G
 A
A
 5 a0001c0002t0005g0114
a0001c0003t0008g0085
a0001c0004t0025g0080
others(2): Show 
a0001c0002t0005g0114
a0001c0003t0008g0085
a0001c0004t0025g0080
a0001c0007t0003g0084
a0002c0006t0003g0091
 5 HG01934.hp1
HG02004.hp1
HG04228.hp2
others(2): Show 
HG01934.hp1
HG02004.hp1
HG04228.hp2
NA18983.hp1
NA19002.hp2
 intron_variant MODIFIER c.880-3514C>T
c.880-3514C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501043
chr1:8501043 G
G
 GA
GA
 12 a0001c0001t0003g0087
a0001c0001t0003g0103
a0001c0001t0003g0115
others(9): Show 
a0001c0001t0003g0087
a0001c0001t0003g0103
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0031g0144
a0001c0001t0038g0195
a0001c0003t0011g0096
a0001c0004t0005g0083
a0001c0007t0003g0098
a0002c0006t0003g0094
a0004c0012t0008g0138
a0010c0027t0003g0086
 12 HG00597.hp1
HG01433.hp2
HG01515.hp1
others(9): Show 
HG00597.hp1
HG01433.hp2
HG01515.hp1
HG02074.hp1
HG02976.hp2
HG03669.hp1
NA18973.hp2
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19074.hp2
NA19090.hp2
 intron_variant MODIFIER c.880-3515_880-3514i
others(3): Show 
c.880-3515_880-3514insT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501043
chr1:8501043 G
G
 GGA
GGA
 14 a0001c0001t0003g0088
a0001c0001t0003g0095
a0001c0001t0003g0100
others(11): Show 
a0001c0001t0003g0088
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0104
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0004t0006g0146
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0024g0081
a0004c0012t0008g0137
 14 HG00280.hp2
HG00544.hp1
HG00609.hp1
others(11): Show 
HG00280.hp2
HG00544.hp1
HG00609.hp1
HG01496.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG03195.hp1
HG04115.hp1
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA20129.hp1
 intron_variant MODIFIER c.880-3515_880-3514i
others(4): Show 
c.880-3515_880-3514insTC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501043
chr1:8501043 G
G
 GGGGGGGG
others(3): Show 
GGGGGGGGGGA
 1 a0001c0001t0037g0196
a0001c0001t0037g0196
 1 HG01517.hp2
HG01517.hp2
 intron_variant MODIFIER c.880-3515_880-3514i
others(12): Show 
c.880-3515_880-3514insTCCCCCCCCC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501043
chr1:8501056 C
C
 T
T
 4 a0001c0002t0005g0110
a0001c0004t0003g0109
a0005c0013t0021g0023
others(1): Show 
a0001c0002t0005g0110
a0001c0004t0003g0109
a0005c0013t0021g0023
a0005c0013t0029g0111
 4 HG02723.hp1
HG03041.hp1
HG03471.hp1
others(1): Show 
HG02723.hp1
HG03041.hp1
HG03471.hp1
NA21309.hp2
 intron_variant MODIFIER c.880-3527G>A
c.880-3527G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501056
chr1:8501067 G
G
 A
A
 1 a0001c0002t0018g0002
a0001c0002t0018g0002
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.880-3538C>T
c.880-3538C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501067
chr1:8501157 A
A
 AG
AG
 11 a0001c0001t0001g0013
a0001c0001t0003g0115
a0001c0001t0016g0054
others(8): Show 
a0001c0001t0001g0013
a0001c0001t0003g0115
a0001c0001t0016g0054
a0001c0004t0001g0003
a0001c0005t0019g0030
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0006c0025t0007g0025
 11 HG00597.hp1
HG01192.hp2
HG02280.hp1
others(8): Show 
HG00597.hp1
HG01192.hp2
HG02280.hp1
HG02293.hp1
HG02451.hp2
HG02723.hp2
HG02809.hp2
HG02965.hp1
HG03130.hp2
HG03540.hp2
HG04184.hp2
 intron_variant MODIFIER c.880-3629dupC
c.880-3629dupC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501157
chr1:8501159 G
G
 C
C
 1 a0001c0002t0005g0125
a0001c0002t0005g0125
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.880-3630C>G
c.880-3630C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501159
chr1:8501165 T
T
 G
G
 1 a0001c0010t0007g0026
a0001c0010t0007g0026
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.880-3636A>C
c.880-3636A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501165
chr1:8501175 G
G
 A
A
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.880-3646C>T
c.880-3646C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501175
chr1:8501232 G
G
 A
A
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.880-3703C>T
c.880-3703C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501232
chr1:8501236 G
G
 A
A
 1 a0001c0001t0001g0039
a0001c0001t0001g0039
 1 HG02004.hp2
HG02004.hp2
 intron_variant MODIFIER c.880-3707C>T
c.880-3707C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501236
chr1:8501242 T
T
 TCCGGGAG
others(42): Show 
TCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGA
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.880-3714_880-3713i
others(51): Show 
c.880-3714_880-3713insTCGGGGCGGCTGGCCAGGCGGGGGGCTG
ATCCCCCCACCTCCCTCCCGG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501242
chr1:8501244 C
C
 T
T
 4 a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0005t0019g0030
others(1): Show 
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0005t0019g0030
a0001c0016t0020g0001
 4 HG02683.hp2
HG03130.hp2
HG06807.hp2
others(1): Show 
HG02683.hp2
HG03130.hp2
HG06807.hp2
NA20129.hp2
 intron_variant MODIFIER c.880-3715G>A
c.880-3715G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501244
chr1:8501268 C
C
 T
T
 2 a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0188
a0001c0002t0002g0189
 2 HG01168.hp1
HG01169.hp1
HG01168.hp1
HG01169.hp1
 intron_variant MODIFIER c.880-3739G>A
c.880-3739G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501268
chr1:8501271 T
T
 C
C
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.880-3742A>G
c.880-3742A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501271
chr1:8501272 C
C
 T
T
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.880-3743G>A
c.880-3743G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501272
chr1:8501277 C
C
 G
G
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.880-3748G>C
c.880-3748G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501277
chr1:8501281 C
C
 T
T
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.880-3752G>A
c.880-3752G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501281
chr1:8501328 G
G
 C
C
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.880-3799C>G
c.880-3799C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501328
chr1:8501337 G
G
 A
A
 1 a0001c0003t0004g0068
a0001c0003t0004g0068
 1 HG02258.hp2
HG02258.hp2
 intron_variant MODIFIER c.880-3808C>T
c.880-3808C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501337
chr1:8501344 A
A
 C
C
 16 a0001c0002t0002g0157
a0001c0002t0018g0002
a0001c0002t0032g0155
others(13): Show 
a0001c0002t0002g0157
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0009t0041g0198
a0001c0019t0014g0119
a0007c0020t0039g0197
 16 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(13): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02559.hp1
HG02622.hp1
HG02818.hp1
HG02965.hp2
HG02970.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG06807.hp1
NA21309.hp1
 intron_variant MODIFIER c.880-3815T>G
c.880-3815T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501344
chr1:8501365 A
A
 C
C
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.880-3836T>G
c.880-3836T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501365
chr1:8501376 A
A
 G
G
 4 a0001c0004t0040g0199
a0001c0009t0041g0198
a0001c0019t0014g0119
others(1): Show 
a0001c0004t0040g0199
a0001c0009t0041g0198
a0001c0019t0014g0119
a0007c0020t0039g0197
 4 HG02145.hp1
HG02970.hp2
HG03195.hp2
others(1): Show 
HG02145.hp1
HG02970.hp2
HG03195.hp2
HG06807.hp1
 intron_variant MODIFIER c.880-3847T>C
c.880-3847T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501376
chr1:8501386 G
G
 GGTCAGCC
others(43): Show 
GGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG
A
 1 a0001c0004t0005g0123
a0001c0004t0005g0123
 1 HG02602.hp2
HG02602.hp2
 intron_variant MODIFIER c.880-3858_880-3857i
others(52): Show 
c.880-3858_880-3857insTCCCCCCACCTCCCTCCCGGACGGGGCG
GCTGGCCGGGCGGGGGGCTGAC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501386
chr1:8501386 G
G
 GTCAGCCC
others(43): Show 
GTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG
A
 1 a0001c0003t0004g0021
a0001c0003t0004g0021
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.880-3858_880-3857i
others(52): Show 
c.880-3858_880-3857insTCCCCCCACCTCCCTCCCGGACGGGGCG
GCTGGCCGGGCGGGGGGGCTGA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501386
chr1:8501386 G
G
 GTCAGCCC
others(42): Show 
GTCAGCCCCCCGACCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGA
 1 a0001c0001t0001g0067
a0001c0001t0001g0067
 1 HG03831.hp2
HG03831.hp2
 intron_variant MODIFIER c.880-3858_880-3857i
others(51): Show 
c.880-3858_880-3857insTCCCCCCACCTCCCTCCCGGACGGGGCG
GCTGGCCGGTCGGGGGGCTGA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501386
chr1:8501400 C
C
 CGGCCAGC
others(42): Show 
CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCT
 99 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(96): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0002g0157
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0010g0107
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0027g0106
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0006c0025t0007g0025
 99 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(96): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.880-3872_880-3871i
others(51): Show 
c.880-3872_880-3871insAGGCGGGGGGCTGATCCCCCCACCTCCC
TCCCGGACGGGGCGGCTGGCC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501400
chr1:8501400 C
C
 T
T
 3 a0001c0001t0001g0067
a0001c0003t0004g0021
a0001c0004t0005g0123
a0001c0001t0001g0067
a0001c0003t0004g0021
a0001c0004t0005g0123
 3 HG01192.hp1
HG02602.hp2
HG03831.hp2
HG01192.hp1
HG02602.hp2
HG03831.hp2
 intron_variant MODIFIER c.880-3871G>A
c.880-3871G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501400
chr1:8501413 C
C
 A
A
 3 a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
 3 HG02145.hp1
HG02970.hp2
HG06807.hp1
HG02145.hp1
HG02970.hp2
HG06807.hp1
 intron_variant MODIFIER c.880-3884G>T
c.880-3884G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501413
chr1:8501423 GT
GT
 G
G
 4 a0001c0004t0040g0199
a0001c0009t0041g0198
a0001c0019t0014g0119
others(1): Show 
a0001c0004t0040g0199
a0001c0009t0041g0198
a0001c0019t0014g0119
a0007c0020t0039g0197
 4 HG02145.hp1
HG02970.hp2
HG03195.hp2
others(1): Show 
HG02145.hp1
HG02970.hp2
HG03195.hp2
HG06807.hp1
 intron_variant MODIFIER c.880-3895delA
c.880-3895delA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501423
chr1:8501428 GGGCGCCT
others(18): Show 
GGGCGCCTCTGCCCGGCCGCCCCTAC
 G
G
 4 a0001c0004t0040g0199
a0001c0009t0041g0198
a0001c0019t0014g0119
others(1): Show 
a0001c0004t0040g0199
a0001c0009t0041g0198
a0001c0019t0014g0119
a0007c0020t0039g0197
 4 HG02145.hp1
HG02970.hp2
HG03195.hp2
others(1): Show 
HG02145.hp1
HG02970.hp2
HG03195.hp2
HG06807.hp1
 intron_variant MODIFIER c.880-3924_880-3900d
others(27): Show 
c.880-3924_880-3900delGTAGGGGCGGCCGGGCAGAGGCGCC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501428
chr1:8501432 G
G
 A
A
 1 a0001c0001t0031g0144
a0001c0001t0031g0144
 1 NA18993.hp2
NA18993.hp2
 intron_variant MODIFIER c.880-3903C>T
c.880-3903C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501432
chr1:8501432 G
G
 T
T
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.880-3903C>A
c.880-3903C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501432
chr1:8501458 A
A
 G
G
 3 a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
 3 HG02145.hp1
HG02970.hp2
HG06807.hp1
HG02145.hp1
HG02970.hp2
HG06807.hp1
 intron_variant MODIFIER c.880-3929T>C
c.880-3929T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501458
chr1:8501459 A
A
 G
G
 4 a0001c0004t0040g0199
a0001c0009t0041g0198
a0001c0019t0014g0119
others(1): Show 
a0001c0004t0040g0199
a0001c0009t0041g0198
a0001c0019t0014g0119
a0007c0020t0039g0197
 4 HG02145.hp1
HG02970.hp2
HG03195.hp2
others(1): Show 
HG02145.hp1
HG02970.hp2
HG03195.hp2
HG06807.hp1
 intron_variant MODIFIER c.880-3930T>C
c.880-3930T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501459
chr1:8501461 T
T
 G
G
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.880-3932A>C
c.880-3932A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501461
chr1:8501462 G
G
 C
C
 3 a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
 3 HG02145.hp1
HG02970.hp2
HG06807.hp1
HG02145.hp1
HG02970.hp2
HG06807.hp1
 intron_variant MODIFIER c.880-3933C>G
c.880-3933C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501462
chr1:8501464 G
G
 T
T
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.880-3935C>A
c.880-3935C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501464
chr1:8501464 GGAGC
GGAGC
 G
G
 3 a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
 3 HG02145.hp1
HG02970.hp2
HG06807.hp1
HG02145.hp1
HG02970.hp2
HG06807.hp1
 intron_variant MODIFIER c.880-3939_880-3936d
others(6): Show 
c.880-3939_880-3936delGCTC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501464
chr1:8501465 G
G
 C
C
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.880-3936C>G
c.880-3936C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501465
chr1:8501472 T
T
 C
C
 3 a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
 3 HG02145.hp1
HG02970.hp2
HG06807.hp1
HG02145.hp1
HG02970.hp2
HG06807.hp1
 intron_variant MODIFIER c.880-3943A>G
c.880-3943A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501472
chr1:8501472 T
T
 TCTGCCCG
others(36): Show 
TCTGCCCGGCCAGCCGCCCCCGTCCGGGAGGGGGGGTCAGCCCC
 1 a0001c0001t0037g0196
a0001c0001t0037g0196
 1 HG01517.hp2
HG01517.hp2
 intron_variant MODIFIER c.880-3944_880-3943i
others(45): Show 
c.880-3944_880-3943insGGGGCTGACCCCCCCTCCCGGACGGGGG
CGGCTGGCCGGGCAG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501472
chr1:8501472 T
T
 TCTGCCCG
others(35): Show 
TCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGGGCGTCAGCCCC
 5 a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
others(2): Show 
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
 5 HG02109.hp1
HG02257.hp2
HG02818.hp1
others(2): Show 
HG02109.hp1
HG02257.hp2
HG02818.hp1
HG03209.hp1
HG03516.hp1
 intron_variant MODIFIER c.880-3944_880-3943i
others(44): Show 
c.880-3944_880-3943insGGGGCTGACGCCCCCTCCCGGACGGGGC
GGCTGGCCGGGCAG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501472
chr1:8501472 T
T
 TCTGCCCG
others(36): Show 
TCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGGGGGGTCAGCCCC
 3 a0001c0001t0003g0115
a0001c0001t0023g0113
a0002c0006t0024g0081
a0001c0001t0003g0115
a0001c0001t0023g0113
a0002c0006t0024g0081
 3 HG00544.hp1
HG00597.hp1
NA19005.hp2
HG00544.hp1
HG00597.hp1
NA19005.hp2
 intron_variant MODIFIER c.880-3944_880-3943i
others(45): Show 
c.880-3944_880-3943insGGGGCTGACCCCCCCCTCCCGGACGGGG
CGGCTGGCCGGGCAG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501472
chr1:8501472 T
T
 TCTGCCCG
others(35): Show 
TCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGGGGGTCAGCCCC
 59 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(56): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0114
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0004c0012t0008g0137
a0004c0012t0008g0138
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 59 HG00280.hp2
HG00609.hp1
HG01167.hp1
others(56): Show 
HG00280.hp2
HG00609.hp1
HG01167.hp1
HG01175.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02293.hp1
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02965.hp2
HG02976.hp2
HG03130.hp1
HG03195.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03491.hp1
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
NA18906.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.880-3944_880-3943i
others(44): Show 
c.880-3944_880-3943insGGGGCTGACCCCCCCTCCCGGACGGGGC
GGCTGGCCGGGCAG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501472
chr1:8501472 T
T
 TCTGCCCG
others(35): Show 
TCTGCCCGGCCGGCCGCCCCGTCCGGGAGGGGGGGTCAGCCCC
 3 a0001c0002t0005g0110
a0005c0013t0021g0023
a0005c0013t0029g0111
a0001c0002t0005g0110
a0005c0013t0021g0023
a0005c0013t0029g0111
 3 HG02723.hp1
HG03041.hp1
HG03471.hp1
HG02723.hp1
HG03041.hp1
HG03471.hp1
 intron_variant MODIFIER c.880-3944_880-3943i
others(44): Show 
c.880-3944_880-3943insGGGGCTGACCCCCCCTCCCGGACGGGGC
GGCCGGCCGGGCAG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501472
chr1:8501474 T
T
 C
C
 4 a0001c0004t0040g0199
a0001c0009t0041g0198
a0001c0019t0014g0119
others(1): Show 
a0001c0004t0040g0199
a0001c0009t0041g0198
a0001c0019t0014g0119
a0007c0020t0039g0197
 4 HG02145.hp1
HG02970.hp2
HG03195.hp2
others(1): Show 
HG02145.hp1
HG02970.hp2
HG03195.hp2
HG06807.hp1
 intron_variant MODIFIER c.880-3945A>G
c.880-3945A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501474
chr1:8501486 C
C
 T
T
 1 a0001c0001t0001g0051
a0001c0001t0001g0051
 1 HG02129.hp2
HG02129.hp2
 intron_variant MODIFIER c.880-3957G>A
c.880-3957G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501486
chr1:8501496 G
G
 A
A
 1 a0001c0001t0001g0076
a0001c0001t0001g0076
 1 NA19090.hp1
NA19090.hp1
 intron_variant MODIFIER c.880-3967C>T
c.880-3967C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501496
chr1:8501513 A
A
 G
G
 13 a0001c0002t0002g0157
a0001c0002t0018g0002
a0001c0002t0032g0155
others(10): Show 
a0001c0002t0002g0157
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0019t0014g0119
 13 HG02109.hp1
HG02257.hp2
HG02559.hp1
others(10): Show 
HG02109.hp1
HG02257.hp2
HG02559.hp1
HG02622.hp1
HG02818.hp1
HG02965.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03516.hp1
HG03579.hp1
HG03579.hp2
NA21309.hp1
 intron_variant MODIFIER c.880-3984T>C
c.880-3984T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501513
chr1:8501518 C
C
 T
T
 1 a0001c0002t0005g0114
a0001c0002t0005g0114
 1 HG02004.hp1
HG02004.hp1
 intron_variant MODIFIER c.880-3989G>A
c.880-3989G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501518
chr1:8501519 C
C
 CCCCCGCC
others(10): Show 
CCCCCGCCTGGCCAGCCG
 4 a0001c0004t0040g0199
a0001c0009t0041g0198
a0001c0019t0014g0119
others(1): Show 
a0001c0004t0040g0199
a0001c0009t0041g0198
a0001c0019t0014g0119
a0007c0020t0039g0197
 4 HG02145.hp1
HG02970.hp2
HG03195.hp2
others(1): Show 
HG02145.hp1
HG02970.hp2
HG03195.hp2
HG06807.hp1
 intron_variant MODIFIER c.880-3991_880-3990i
others(19): Show 
c.880-3991_880-3990insCGGCTGGCCAGGCGGGG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501519
chr1:8501525 T
T
 A
A
 3 a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
 3 HG02145.hp1
HG02970.hp2
HG06807.hp1
HG02145.hp1
HG02970.hp2
HG06807.hp1
 intron_variant MODIFIER c.880-3996A>T
c.880-3996A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501525
chr1:8501528 G
G
 A
A
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.880-3999C>T
c.880-3999C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501528
chr1:8501554 T
T
 C
C
 4 a0001c0004t0040g0199
a0001c0009t0041g0198
a0001c0019t0014g0119
others(1): Show 
a0001c0004t0040g0199
a0001c0009t0041g0198
a0001c0019t0014g0119
a0007c0020t0039g0197
 4 HG02145.hp1
HG02970.hp2
HG03195.hp2
others(1): Show 
HG02145.hp1
HG02970.hp2
HG03195.hp2
HG06807.hp1
 intron_variant MODIFIER c.880-4025A>G
c.880-4025A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501554
chr1:8501555 C
C
 T
T
 4 a0001c0004t0040g0199
a0001c0009t0041g0198
a0001c0019t0014g0119
others(1): Show 
a0001c0004t0040g0199
a0001c0009t0041g0198
a0001c0019t0014g0119
a0007c0020t0039g0197
 4 HG02145.hp1
HG02970.hp2
HG03195.hp2
others(1): Show 
HG02145.hp1
HG02970.hp2
HG03195.hp2
HG06807.hp1
 intron_variant MODIFIER c.880-4026G>A
c.880-4026G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501555
chr1:8501560 C
C
 G
G
 3 a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
 3 HG02145.hp1
HG02970.hp2
HG06807.hp1
HG02145.hp1
HG02970.hp2
HG06807.hp1
 intron_variant MODIFIER c.880-4031G>C
c.880-4031G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501560
chr1:8501564 C
C
 T
T
 4 a0001c0004t0040g0199
a0001c0009t0041g0198
a0001c0019t0014g0119
others(1): Show 
a0001c0004t0040g0199
a0001c0009t0041g0198
a0001c0019t0014g0119
a0007c0020t0039g0197
 4 HG02145.hp1
HG02970.hp2
HG03195.hp2
others(1): Show 
HG02145.hp1
HG02970.hp2
HG03195.hp2
HG06807.hp1
 intron_variant MODIFIER c.880-4035G>A
c.880-4035G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501564
chr1:8501611 G
G
 C
C
 3 a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
 3 HG02145.hp1
HG02970.hp2
HG06807.hp1
HG02145.hp1
HG02970.hp2
HG06807.hp1
 intron_variant MODIFIER c.880-4082C>G
c.880-4082C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501611
chr1:8501615 T
T
 TGGGGGGG
others(44): Show 
TGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG
TG
 2 a0001c0004t0040g0199
a0001c0009t0041g0198
a0001c0004t0040g0199
a0001c0009t0041g0198
 2 HG02145.hp1
HG02970.hp2
HG02145.hp1
HG02970.hp2
 intron_variant MODIFIER c.880-4087_880-4086i
others(53): Show 
c.880-4087_880-4086insCACCTCCCTCCCGGACGGGGCGGCTGGC
CGGGCGGGGGGCTGACCCCCCCC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501615
chr1:8501616 GGGGGGTC
others(40): Show 
GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGT
 G
G
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.880-4134_880-4088d
others(49): Show 
c.880-4134_880-4088delACCTCCCTCCCGGACTGGGCGGCTGGCC
GGGCGGGGGGCTGACCCCC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501616
chr1:8501648 A
A
 C
C
 4 a0001c0004t0040g0199
a0001c0009t0041g0198
a0004c0012t0008g0138
others(1): Show 
a0001c0004t0040g0199
a0001c0009t0041g0198
a0004c0012t0008g0138
a0007c0020t0039g0197
 4 HG02145.hp1
HG02970.hp2
HG02976.hp2
others(1): Show 
HG02145.hp1
HG02970.hp2
HG02976.hp2
HG06807.hp1
 intron_variant MODIFIER c.880-4119T>G
c.880-4119T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501648
chr1:8501683 C
C
 T
T
 2 a0001c0004t0014g0126
a0001c0005t0026g0127
a0001c0004t0014g0126
a0001c0005t0026g0127
 2 HG02965.hp2
NA21309.hp1
HG02965.hp2
NA21309.hp1
 intron_variant MODIFIER c.880-4154G>A
c.880-4154G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501683
chr1:8501696 A
A
 C
C
 4 a0001c0004t0040g0199
a0001c0009t0041g0198
a0001c0019t0014g0119
others(1): Show 
a0001c0004t0040g0199
a0001c0009t0041g0198
a0001c0019t0014g0119
a0007c0020t0039g0197
 4 HG02145.hp1
HG02970.hp2
HG03195.hp2
others(1): Show 
HG02145.hp1
HG02970.hp2
HG03195.hp2
HG06807.hp1
 intron_variant MODIFIER c.880-4167T>G
c.880-4167T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501696
chr1:8501697 G
G
 A
A
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.880-4168C>T
c.880-4168C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501697
chr1:8501702 G
G
 T
T
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.880-4173C>A
c.880-4173C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501702
chr1:8501711 T
T
 TGGGGGGA
others(219): Show 
TGGGGGGATCAGCCCCCCACCTGGCCAGCCGCCCCGACCGGGAGGTGAGG
GGCGCCTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCG
GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG
CCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGC
CAGCCGCCCCGTCCGGGAGGGAGGTGG
 1 a0001c0004t0006g0146
a0001c0004t0006g0146
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.880-4183_880-4182i
others(228): Show 
c.880-4183_880-4182insCCACCTCCCTCCCGGACGGGGCGGCTGG
CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGC
CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC
GGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCC
CTCACCTCCCGGTCGGGGCGGCTGGCCAGGTGGGGGGCTGATCCCCCC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501711
chr1:8501711 T
T
 TGGGGGGA
others(272): Show 
TGGGGGGATCAGCCCCCCACCTGGCCAGCCGCCCCGACCGGGAGGTGAGG
GGCGCCTCTGCCCGGCTGCCCGTACTGGGAAGTGAGGACCCCTCTGCCCG
GCCAGCCGCCCCGTCCGGGAGGCAGGTGGGGGGGGGTCAGCCCCCCGCCC
GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCC
GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGATCAGCCCCCCGCC
CGGCCAGCCGCCCCGTCCGGGAGGGAGGTG
 1 a0001c0001t0003g0115
a0001c0001t0003g0115
 1 HG00597.hp1
HG00597.hp1
 intron_variant MODIFIER c.880-4183_880-4182i
others(281): Show 
c.880-4183_880-4182insCACCTCCCTCCCGGACGGGGCGGCTGGC
CGGGCGGGGGGCTGATCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG
CCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG
CCGGGCGGGGGGCTGACCCCCCCCCACCTGCCTCCCGGACGGGGCGGCTG
GCCGGGCAGAGGGGTCCTCACTTCCCAGTACGGGCAGCCGGGCAGAGGCG
CCCCTCACCTCCCGGTCGGGGCGGCTGGCCAGGTGGGGGGCTGATCCCCC
C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501711
chr1:8501711 T
T
 TGGGGGGA
others(269): Show 
TGGGGGGATCAGCCCCCCACCTGGCCAGCCGCCCCGACCGGGAGGTGAGG
GGCGCCTCTGCCCGGCTGCCCGTACTGGGAAGTGAGGACCCCTCTGCCCG
GCCAGCCGCCCCGTCCGGGAGGCAGGTGGGGGGGGTCAGCCCCCCGCCCG
GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG
CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGATCAGCCCCCCGCCCGG
CCAGCCGCCCCGTCCGGGAGGGAGGTG
 5 a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0023g0113
others(2): Show 
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0023g0113
a0001c0001t0031g0144
a0001c0002t0005g0114
 5 HG00544.hp1
HG02004.hp1
HG02523.hp2
others(2): Show 
HG00544.hp1
HG02004.hp1
HG02523.hp2
NA18973.hp2
NA18993.hp2
 intron_variant MODIFIER c.880-4183_880-4182i
others(278): Show 
c.880-4183_880-4182insCACCTCCCTCCCGGACGGGGCGGCTGGC
CGGGCGGGGGGCTGATCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC
CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC
GGGCGGGGGGCTGACCCCCCCCACCTGCCTCCCGGACGGGGCGGCTGGCC
GGGCAGAGGGGTCCTCACTTCCCAGTACGGGCAGCCGGGCAGAGGCGCCC
CTCACCTCCCGGTCGGGGCGGCTGGCCAGGTGGGGGGCTGATCCCCCC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501711
chr1:8501711 T
T
 TGGGGGGA
others(268): Show 
TGGGGGGATCAGCCCCCCACCTGGCCAGCCGCCCCGACCGGGAGGTGAGG
GGCGCCTCTGCCCGGCTGCTACTGGGAAGTGAGGACCCCTCTGCCCGGCC
AGCCGCCCCGTCCGGGAGGCAGGTGGGGGGGGGTCAGCCCCCCGCCCGGC
CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCC
AGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGATCAGCCCCCCGCCCGGCC
AGCCGCCCCGTCCGGGAGGGAGGTGG
 1 a0001c0001t0003g0102
a0001c0001t0003g0102
 1 HG03688.hp2
HG03688.hp2
 intron_variant MODIFIER c.880-4183_880-4182i
others(277): Show 
c.880-4183_880-4182insCCACCTCCCTCCCGGACGGGGCGGCTGG
CCGGGCGGGGGGCTGATCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG
CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC
CGGGCGGGGGGCTGACCCCCCCCCACCTGCCTCCCGGACGGGGCGGCTGG
CCGGGCAGAGGGGTCCTCACTTCCCAGTAGCAGCCGGGCAGAGGCGCCCC
TCACCTCCCGGTCGGGGCGGCTGGCCAGGTGGGGGGCTGATCCCCCC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501711
chr1:8501711 T
T
 TGGGGGGA
others(269): Show 
TGGGGGGATCAGCCCCCCACCTGGCCAGCCGCCCCGACCGGGAGGTGAGG
GGCGCCTCTGCCCGGCTGCTACTGGGAAGTGAGGACCCCTCTGCCCGGCC
AGCCGCCCCGTCCGGGAGGCAGGTGGGGGGGGTCAGCCCCCCGCCCGGCC
AGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCGCCCGGCC
AGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGATCAGCCCCCCCGCCCGGC
CAGCCGCCCCGTCCGGGAGGGAGGTGG
 1 a0001c0001t0037g0196
a0001c0001t0037g0196
 1 HG01517.hp2
HG01517.hp2
 intron_variant MODIFIER c.880-4183_880-4182i
others(278): Show 
c.880-4183_880-4182insCCACCTCCCTCCCGGACGGGGCGGCTGG
CCGGGCGGGGGGGCTGATCCCCCCCACCTCCCTCCCGGACGGGGCGGCTG
GCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG
GCCGGGCGGGGGGCTGACCCCCCCCACCTGCCTCCCGGACGGGGCGGCTG
GCCGGGCAGAGGGGTCCTCACTTCCCAGTAGCAGCCGGGCAGAGGCGCCC
CTCACCTCCCGGTCGGGGCGGCTGGCCAGGTGGGGGGCTGATCCCCCC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501711
chr1:8501711 T
T
 TGGGGGGA
others(268): Show 
TGGGGGGATCAGCCCCCCACCTGGCCAGCCGCCCCGACCGGGAGGTGAGG
GGCGCCTCTGCCCGGCTGCTACTGGGAAGTGAGGACCCCTCTGCCCGGCC
AGCCGCCCCGTCCGGGAGGCAGGTGGGGGGGGTCAGCCCCCCGCCCGGCC
AGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCGCCCGGCC
AGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGATCAGCCCCCCGCCCCGGC
CAGCCGCCCCGTCCGGGAGGGAGGTG
 1 a0001c0001t0016g0054
a0001c0001t0016g0054
 1 HG02293.hp1
HG02293.hp1
 intron_variant MODIFIER c.880-4183_880-4182i
others(277): Show 
c.880-4183_880-4182insCACCTCCCTCCCGGACGGGGCGGCTGGC
CGGGGCGGGGGGCTGATCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG
CCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG
CCGGGCGGGGGGCTGACCCCCCCCACCTGCCTCCCGGACGGGGCGGCTGG
CCGGGCAGAGGGGTCCTCACTTCCCAGTAGCAGCCGGGCAGAGGCGCCCC
TCACCTCCCGGTCGGGGCGGCTGGCCAGGTGGGGGGCTGATCCCCCC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501711
chr1:8501711 T
T
 TGGGGGGA
others(266): Show 
TGGGGGGATCAGCCCCCCACCTGGCCAGCCGCCCCGACCGGGAGGTGAGG
GGCGCCTCTGCCCGGCTGCTACTGGGAAGTGAGGACCCCTCTGCCCGGCC
AGCCGCCCCGTCCGGGAGGCAGGTGGGGGGGGTCAGCCCCCCGCCCGGCC
AGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCA
GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGATCAGCCCCCCGCCCGGCCA
GCCGCCCCGTCCGGGAGGGAGGTG
 28 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(25): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0006g0181
a0001c0001t0030g0143
a0001c0001t0038g0195
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0004c0012t0008g0137
a0004c0012t0008g0138
a0008c0017t0003g0101
a0010c0027t0003g0086
 28 HG00280.hp2
HG00609.hp1
HG01496.hp1
others(25): Show 
HG00280.hp2
HG00609.hp1
HG01496.hp1
HG01515.hp1
HG01934.hp1
HG02074.hp1
HG02155.hp2
HG02165.hp1
HG02735.hp2
HG02976.hp2
HG03195.hp1
HG03491.hp1
HG03669.hp1
HG04115.hp1
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18983.hp1
NA18985.hp1
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.880-4183_880-4182i
others(275): Show 
c.880-4183_880-4182insCACCTCCCTCCCGGACGGGGCGGCTGGC
CGGGCGGGGGGCTGATCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC
CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC
GGGCGGGGGGCTGACCCCCCCCACCTGCCTCCCGGACGGGGCGGCTGGCC
GGGCAGAGGGGTCCTCACTTCCCAGTAGCAGCCGGGCAGAGGCGCCCCTC
ACCTCCCGGTCGGGGCGGCTGGCCAGGTGGGGGGCTGATCCCCCC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501711
chr1:8501711 T
T
 TGGGGGGG
others(267): Show 
TGGGGGGGATCAGCCCCCCACCTGGCCAGCCGCCCCGACCGGGAGGTGAG
GGGCGCCTCTGCCCGGCTGCTACTGGGAAGTGAGGACCCCTCTGCCCGGC
CAGCCGCCCCGTCCGGGAGGCAGGTGGGGGGGGTCAGCCCCCCGCCCGGC
CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCC
AGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGATCAGCCCCCCGCCCGGCC
AGCCGCCCCGTCCGGGAGGGAGGTG
 1 a0001c0004t0005g0083
a0001c0004t0005g0083
 1 HG01433.hp2
HG01433.hp2
 intron_variant MODIFIER c.880-4183_880-4182i
others(276): Show 
c.880-4183_880-4182insCACCTCCCTCCCGGACGGGGCGGCTGGC
CGGGCGGGGGGCTGATCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC
CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC
GGGCGGGGGGCTGACCCCCCCCACCTGCCTCCCGGACGGGGCGGCTGGCC
GGGCAGAGGGGTCCTCACTTCCCAGTAGCAGCCGGGCAGAGGCGCCCCTC
ACCTCCCGGTCGGGGCGGCTGGCCAGGTGGGGGGCTGATCCCCCCC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501711
chr1:8501716 G
G
 GGATCAGC
others(266): Show 
GGATCAGCCCCCCACCTGGCCAGCCGCCCCGACCGGGAGGTGAGGGGCGC
CTCTGCCCGGCTGCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCG
CCCCGTCCGGGAGGCAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCG
CCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGC
CCCGTCCGGGAGGGAGGTGGGGGGGATCAGCCCCCCGCCCGGCCAGCCGC
CCCGTCCGGGAGGGAGGTGGGGGA
 1 a0002c0006t0003g0089
a0002c0006t0003g0089
 1 HG02132.hp1
HG02132.hp1
 intron_variant MODIFIER c.880-4188_880-4187i
others(275): Show 
c.880-4188_880-4187insTCCCCCACCTCCCTCCCGGACGGGGCGG
CTGGCCGGGCGGGGGGCTGATCCCCCCCACCTCCCTCCCGGACGGGGCGG
CTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC
TGGCCGGGCGGGGGGCTGACCCCCCCCACCTGCCTCCCGGACGGGGCGGC
TGGCCGGGCAGAGGGGTCCTCACTTCCCAGTAGCAGCCGGGCAGAGGCGC
CCCTCACCTCCCGGTCGGGGCGGCTGGCCAGGTGGGGGGCTGATC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501716
chr1:8501718 T
T
 G
G
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.880-4189A>C
c.880-4189A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501718
chr1:8501723 C
C
 A
A
 2 a0005c0013t0021g0023
a0005c0013t0029g0111
a0005c0013t0021g0023
a0005c0013t0029g0111
 2 HG03041.hp1
HG03471.hp1
HG03041.hp1
HG03471.hp1
 intron_variant MODIFIER c.880-4194G>T
c.880-4194G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501723
chr1:8501759 T
T
 TG
TG
 42 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(39): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0025g0080
a0001c0004t0040g0199
a0001c0005t0019g0030
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0009t0041g0198
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0004c0012t0008g0137
a0004c0012t0008g0138
a0007c0020t0039g0197
a0008c0017t0003g0101
a0010c0027t0003g0086
 42 HG00280.hp2
HG00544.hp1
HG00609.hp1
others(39): Show 
HG00280.hp2
HG00544.hp1
HG00609.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02735.hp2
HG02970.hp2
HG02976.hp2
HG03130.hp2
HG03195.hp1
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
HG06807.hp1
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.880-4231dupC
c.880-4231dupC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501759
chr1:8501763 G
G
 A
A
 1 a0001c0018t0001g0005
a0001c0018t0001g0005
 1 HG03688.hp1
HG03688.hp1
 intron_variant MODIFIER c.880-4234C>T
c.880-4234C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501763
chr1:8501766 A
A
 G
G
 42 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(39): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0025g0080
a0001c0004t0040g0199
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0009t0041g0198
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0004c0012t0008g0137
a0004c0012t0008g0138
a0007c0020t0039g0197
a0008c0017t0003g0101
a0010c0027t0003g0086
 42 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(39): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02735.hp2
HG02970.hp2
HG02976.hp2
HG03195.hp1
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
HG06807.hp1
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.880-4237T>C
c.880-4237T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501766
chr1:8501795 A
A
 T
T
 44 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(41): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0004t0040g0199
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0009t0041g0198
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0004c0012t0008g0137
a0004c0012t0008g0138
a0007c0020t0039g0197
a0008c0017t0003g0101
a0010c0027t0003g0086
 44 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(41): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02735.hp2
HG02970.hp2
HG02976.hp2
HG03195.hp1
HG03195.hp2
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
HG06807.hp1
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.880-4266T>A
c.880-4266T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501795
chr1:8501798 G
G
 A
A
 42 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(39): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0025g0080
a0001c0004t0040g0199
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0009t0041g0198
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0004c0012t0008g0137
a0004c0012t0008g0138
a0007c0020t0039g0197
a0008c0017t0003g0101
a0010c0027t0003g0086
 42 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(39): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02735.hp2
HG02970.hp2
HG02976.hp2
HG03195.hp1
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
HG06807.hp1
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.880-4269C>T
c.880-4269C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501798
chr1:8501804 T
T
 G
G
 3 a0001c0002t0005g0110
a0005c0013t0021g0023
a0005c0013t0029g0111
a0001c0002t0005g0110
a0005c0013t0021g0023
a0005c0013t0029g0111
 3 HG02723.hp1
HG03041.hp1
HG03471.hp1
HG02723.hp1
HG03041.hp1
HG03471.hp1
 intron_variant MODIFIER c.880-4275A>C
c.880-4275A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501804
chr1:8501830 G
G
 A
A
 14 a0001c0001t0003g0122
a0001c0001t0006g0153
a0001c0001t0006g0154
others(11): Show 
a0001c0001t0003g0122
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0004t0022g0121
a0009c0021t0003g0135
 14 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(11): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp2
NA18906.hp2
NA20300.hp2
 intron_variant MODIFIER c.880-4301C>T
c.880-4301C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501830
chr1:8501830 G
G
 C
C
 44 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(41): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0004t0040g0199
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0009t0041g0198
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0004c0012t0008g0137
a0004c0012t0008g0138
a0007c0020t0039g0197
a0008c0017t0003g0101
a0010c0027t0003g0086
 44 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(41): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02735.hp2
HG02970.hp2
HG02976.hp2
HG03195.hp1
HG03195.hp2
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
HG06807.hp1
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.880-4301C>G
c.880-4301C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501830
chr1:8501879 G
G
 A
A
 1 a0001c0001t0001g0004
a0001c0001t0001g0004
 1 NA19074.hp1
NA19074.hp1
 intron_variant MODIFIER c.880-4350C>T
c.880-4350C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501879
chr1:8501881 C
C
 CAGGTGGG
others(44): Show 
CAGGTGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAG
GG
 1 a0001c0002t0002g0148
a0001c0002t0002g0148
 1 HG04184.hp1
HG04184.hp1
 intron_variant MODIFIER c.880-4353_880-4352i
others(53): Show 
c.880-4353_880-4352insCCCTCCCGGACGGGGCGGCTGGCCGGGC
GGGGGGCTGACCCCCCCCCACCT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501881
chr1:8501881 C
C
 CAGGTGGG
others(43): Show 
CAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGG
G
 3 a0001c0002t0002g0171
a0001c0002t0035g0160
a0001c0003t0015g0147
a0001c0002t0002g0171
a0001c0002t0035g0160
a0001c0003t0015g0147
 3 HG01515.hp2
HG02280.hp2
HG03669.hp2
HG01515.hp2
HG02280.hp2
HG03669.hp2
 intron_variant MODIFIER c.880-4402_880-4353d
others(52): Show 
c.880-4402_880-4353dupCCCTCCCGGACGGGGCGGCTGGCCGGGC
GGGGGGCTGACCCCCCCCACCT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501881
chr1:8501881 C
C
 G
G
 44 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(41): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0004t0040g0199
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0009t0041g0198
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0004c0012t0008g0137
a0004c0012t0008g0138
a0007c0020t0039g0197
a0008c0017t0003g0101
a0010c0027t0003g0086
 44 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(41): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02735.hp2
HG02970.hp2
HG02976.hp2
HG03195.hp1
HG03195.hp2
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
HG06807.hp1
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.880-4352G>C
c.880-4352G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501881
chr1:8501885 T
T
 TGGGGGGG
others(92): Show 
TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGT
GGGGGGGTCAGCCCCCCGCACGGCCAGCCGCCCCGTCCGGGAGGGAGGTG
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.880-4357_880-4356i
others(101): Show 
c.880-4357_880-4356insCACCTCCCTCCCGGACGGGGCGGCTGGC
CGTGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCC
GGGCGGGGGGCTGACCCCCCC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501885
chr1:8501885 TG
TG
 T
T
 40 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(37): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0004t0040g0199
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0009t0041g0198
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0004c0012t0008g0137
a0004c0012t0008g0138
a0007c0020t0039g0197
a0008c0017t0003g0101
a0010c0027t0003g0086
 40 HG00280.hp2
HG00544.hp1
HG00609.hp1
others(37): Show 
HG00280.hp2
HG00544.hp1
HG00609.hp1
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02523.hp2
HG02735.hp2
HG02970.hp2
HG02976.hp2
HG03195.hp1
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
HG06807.hp1
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.880-4357delC
c.880-4357delC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501885
chr1:8501886 G
G
 GGGGGGGG
others(43): Show 
GGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGG
T
 1 a0001c0004t0010g0142
a0001c0004t0010g0142
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.880-4358_880-4357i
others(52): Show 
c.880-4358_880-4357insACCTCCCTCCCGGATGGGGCGGCTGGCC
GGGCGGGGGGCTGACCCCCCCC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501886
chr1:8501886 G
G
 GGGGGGGG
others(94): Show 
GGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGCAGG
TGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG
GT
 1 a0001c0002t0018g0002
a0001c0002t0018g0002
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.880-4358_880-4357i
others(103): Show 
c.880-4358_880-4357insACCTCCCTCCCGGACGGGGCGGCTGGCC
GGGCGGGGGGCTGACCCCCCCCCACCTGCCTCCCGGACGGGGCGGCTGGC
CGGGCGGGGGGCTGACCCCCCCC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501886
chr1:8501886 G
G
 GGGGGGGG
others(43): Show 
GGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG
T
 6 a0001c0001t0001g0013
a0001c0001t0001g0055
a0001c0001t0001g0062
others(3): Show 
a0001c0001t0001g0013
a0001c0001t0001g0055
a0001c0001t0001g0062
a0001c0001t0006g0184
a0001c0002t0002g0158
a0001c0002t0002g0176
 6 HG01192.hp2
HG01496.hp2
HG03654.hp1
others(3): Show 
HG01192.hp2
HG01496.hp2
HG03654.hp1
HG04199.hp2
NA18944.hp1
NA18967.hp2
 intron_variant MODIFIER c.880-4358_880-4357i
others(52): Show 
c.880-4358_880-4357insACCTCCCTCCCGGACGGGGCGGCTGGCC
GGGCGGGGGGCTGACCCCCCCC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501886
chr1:8501886 G
G
 GGGGGGGG
others(42): Show 
GGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT
 136 a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0033
others(133): Show 
a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0063
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0170
a0001c0001t0036g0194
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0157
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0005g0110
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0013g0053
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0002t0033g0186
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0123
a0001c0004t0010g0120
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0014t0002g0191
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0023t0002g0175
a0001c0024t0002g0182
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0009c0021t0003g0135
 136 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(133): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp1
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG04184.hp2
HG04199.hp1
HG04228.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18946.hp1
NA18946.hp2
NA18964.hp2
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19085.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20752.hp1
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.880-4406_880-4358d
others(51): Show 
c.880-4406_880-4358dupACCTCCCTCCCGGACGGGGCGGCTGGCC
GGGCGGGGGGCTGACCCCCCC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501886
chr1:8501886 G
G
 GGGGGGGG
others(169): Show 
GGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT
GGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCAGGAGGTGAGG
GGCGCCTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCG
GCCAGCCGCCCCGTCCGGGAGGGAGGT
 1 a0001c0001t0001g0061
a0001c0001t0001g0061
 1 NA20300.hp1
NA20300.hp1
 intron_variant MODIFIER c.880-4358_880-4357i
others(178): Show 
c.880-4358_880-4357insACCTCCCTCCCGGACGGGGCGGCTGGCC
GGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCC
CTCACCTCCTGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCCA
CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501886
chr1:8501886 G
G
 GGGGGGGG
others(1436): Show 
GGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT
GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG
GGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG
GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG
GGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCAGGAGGTGAGGGG
CGCCTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCGGC
CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCC
AGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCA
GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCA
GCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAG
CCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTGCCCCTACTGG
GAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG
GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGG
GGGGGTCAGCCCCCCGCACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG
GGGGGGTCAGCCCCCCGCACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG
GGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGC
GCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCGGGC
CAGCCGCCCCGTCCGGGAGGGAGGCGCGGGGGGGGGGTCGGCCAGCCGCC
CCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCC
CAGTCCGGGAGGGAGGTGGTGGGTCAGCCCCCCACCCGGCCAGCCGCCCC
GTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGTCCGGGAGGTGAGGGGC
GCCTCTGCCCGGTCGCCCCTACCGGGAAGTGAGGACCCCTCTGCCCGGCC
AGCCGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCCGGCCAG
CCGCCCAGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCC
GCCCAGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGC
CCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCC
CCGACCGGGAGGTGAGGGGCGCCTCTGCCCGGCTGCCCGTACTGGGAAGT
GAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGCAGGTGGGGGG
GGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT
 1 a0001c0004t0010g0107
a0001c0004t0010g0107
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.880-4358_880-4357i
others(1445): Show 
c.880-4358_880-4357insACCTCCCTCCCGGACGGGGCGGCTGGCC
GGGCGGGGGGCTGACCCCCCCCACCTGCCTCCCGGACGGGGCGGCTGGCC
GGGCAGAGGGGTCCTCACTTCCCAGTACGGGCAGCCGGGCAGAGGCGCCC
CTCACCTCCCGGTCGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCAC
CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCT
CCCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTCC
CTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCT
CCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCCTCACTTCCCGGTAGGG
GCGACCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGGGCTGATCCCCC
CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCACCA
CCTCCCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCA
CCTCCCTCCCGGACGGGGCGGCTGGCCGACCCCCCCCCCGCGCCTCCCTC
CCGGACGGGGCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGG
GCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGG
CGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGC
GGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTG
CGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGC
GGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA
GAGGGGTCCTCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCAC
CTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCC
TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCC
TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCT
CCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC
CCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCCTCACTTCCCAGTAGGGG
CAGCCGGGCAGAGGCGCCCCTCACCTCCTGGACGGGGCGGCTGGCCAGGC
GGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC
GGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG
GGGGGCTGATCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG
GGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG
GGGGCTGACCCCCCC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501886
chr1:8501886 G
G
 GGGGGGGG
others(1836): Show 
GGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT
GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG
GGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG
GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG
GGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCAGGAGGTGAGGGG
CGCCTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCGGC
CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCC
AGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCA
GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCA
GCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAG
CCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTGCCCCTACTGG
GAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG
GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG
GGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCAGGAGGTGAGGGG
CGCCTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCGGC
CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCC
AGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCC
AGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCA
GCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTGCCCCTACTG
GGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT
GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTG
GGGGGGTCAGCCCCCCGCACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG
GGGGGGGTCAGCCCCCCGCACGGCCAGCCGCCCCGTCCGGGAGGGAGGTG
GGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCTGGGAGGTGAGGGG
CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCGGG
CCAGCCGCCCCGTCCGGGAGGGAGGCGCGGGGGGGGGTCGGCCAGCCGCC
CCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCC
CAGTCCGGGAGGGAGGTGGTGGGTCAGCCCCCCACCCGGCCAGCCGCCCC
GTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGTCCGGGAGGTGAGGGGC
GCCTCTGCCCGGTCGCCCCTACCGGGAAGTGAGGACCCCTCTGCCCGGCC
AGCCGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCCGGCCAG
CCGCCCAGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCC
GCCCAGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGC
CCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCC
CCGACCGGGAGGTGAGGGGCGCCTCTGCCCGGCTGCCCGTACTGGGAAGT
GAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGCAGGTGGGGGG
GGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT
 1 a0001c0004t0027g0106
a0001c0004t0027g0106
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.880-4358_880-4357i
others(1845): Show 
c.880-4358_880-4357insACCTCCCTCCCGGACGGGGCGGCTGGCC
GGGCGGGGGGCTGACCCCCCCCACCTGCCTCCCGGACGGGGCGGCTGGCC
GGGCAGAGGGGTCCTCACTTCCCAGTACGGGCAGCCGGGCAGAGGCGCCC
CTCACCTCCCGGTCGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCAC
CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCT
CCCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTCC
CTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCT
CCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCCTCACTTCCCGGTAGGG
GCGACCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGGGCTGATCCCCC
CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCACCA
CCTCCCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCA
CCTCCCTCCCGGACGGGGCGGCTGGCCGACCCCCCCCCGCGCCTCCCTCC
CGGACGGGGCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG
CGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGC
GGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCG
GGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGC
GGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCG
GGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG
AGGGGTCCTCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACC
TCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCT
CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCT
CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC
CCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCCTCACTTCCCAGTAGGGG
CAGCCGGGCAGAGGCGCCCCTCACCTCCTGGACGGGGCGGCTGGCCAGGC
GGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC
GGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA
GAGGGGTCCTCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCAC
CTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCC
TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCC
TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCT
CCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC
CCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCCTCACTTCCCAGTAGGGG
CAGCCGGGCAGAGGCGCCCCTCACCTCCTGGACGGGGCGGCTGGCCAGGC
GGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC
GGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG
GGGGGCTGATCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG
GGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG
GGGGCTGACCCCCCC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501886
chr1:8501886 G
G
 GGGGGGGT
others(41): Show 
GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT
 1 a0001c0001t0001g0073
a0001c0001t0001g0073
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.880-4358_880-4357i
others(50): Show 
c.880-4358_880-4357insACCTCCCTCCCGGACGGGGCGGCTGGCC
GGGCGGGGGGCTGACCCCCC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501886
chr1:8501906 C
C
 A
A
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.880-4377G>T
c.880-4377G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501906
chr1:8501921 G
G
 A
A
 43 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(40): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0004t0040g0199
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0009t0041g0198
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0004c0012t0008g0137
a0004c0012t0008g0138
a0007c0020t0039g0197
a0008c0017t0003g0101
a0010c0027t0003g0086
 43 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(40): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02735.hp2
HG02970.hp2
HG02976.hp2
HG03195.hp1
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
HG06807.hp1
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.880-4392C>T
c.880-4392C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501921
chr1:8501935 T
T
 TGGGGGGG
others(43): Show 
TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT
G
 2 a0001c0001t0001g0067
a0001c0001t0001g0075
a0001c0001t0001g0067
a0001c0001t0001g0075
 2 HG03831.hp2
NA18967.hp1
HG03831.hp2
NA18967.hp1
 intron_variant MODIFIER c.880-4407_880-4406i
others(52): Show 
c.880-4407_880-4406insCACCTCCCTCCCGGACGGGGCGGCTGGC
CGGGCGGGGGGCTGACCCCCCC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501935
chr1:8501936 G
G
 GGGGGGGT
others(619): Show 
GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG
GGGGGGGATCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG
TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT
GGGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCAGGAGGTGAG
GGGCGCCTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGACCCCTCTGCCC
GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCC
GGCCAGCCGCCCCGTCCGGGAGGAAGGTGGGGGGGATCAGCCCCCCCGCC
CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCC
GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG
GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG
CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCACGGC
CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCGCACG
GCCAGCCGCCCCGTCCGGGAGGGAGGT
 1 a0001c0001t0001g0064
a0001c0001t0001g0064
 1 HG00597.hp2
HG00597.hp2
 intron_variant MODIFIER c.880-4408_880-4407i
others(628): Show 
c.880-4408_880-4407insACCTCCCTCCCGGACGGGGCGGCTGGCC
GTGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG
CCGTGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC
CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC
GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG
GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG
GCGGGGGGGCTGATCCCCCCCACCTTCCTCCCGGACGGGGCGGCTGGCCG
GGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG
GGCAGAGGGGTCCTCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCC
TCACCTCCTGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCCCA
CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCAC
CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGATCCCCCCCC
ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501936
chr1:8501942 GA
GA
 G
G
 43 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(40): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0003t0017g0032
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0004t0040g0199
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0009t0041g0198
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0004c0012t0008g0137
a0004c0012t0008g0138
a0007c0020t0039g0197
a0008c0017t0003g0101
a0010c0027t0003g0086
 43 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(40): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02735.hp2
HG02970.hp2
HG02976.hp2
HG03195.hp1
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04115.hp2
HG04228.hp2
HG06807.hp1
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.880-4414delT
c.880-4414delT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501942
chr1:8501943 A
A
 G
G
 2 a0001c0001t0037g0196
a0001c0003t0004g0021
a0001c0001t0037g0196
a0001c0003t0004g0021
 2 HG01192.hp1
HG01517.hp2
HG01192.hp1
HG01517.hp2
 intron_variant MODIFIER c.880-4414T>C
c.880-4414T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501943
chr1:8501956 C
C
 A
A
 4 a0001c0004t0006g0146
a0001c0004t0040g0199
a0001c0009t0041g0198
others(1): Show 
a0001c0004t0006g0146
a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
 4 HG02145.hp1
HG02970.hp2
HG06807.hp1
others(1): Show 
HG02145.hp1
HG02970.hp2
HG06807.hp1
NA19043.hp1
 intron_variant MODIFIER c.880-4427G>T
c.880-4427G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501956
chr1:8501957 C
C
 G
G
 1 a0001c0002t0002g0167
a0001c0002t0002g0167
 1 HG02735.hp1
HG02735.hp1
 intron_variant MODIFIER c.880-4428G>C
c.880-4428G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501957
chr1:8501957 C
C
 T
T
 2 a0001c0001t0001g0064
a0001c0019t0014g0119
a0001c0001t0001g0064
a0001c0019t0014g0119
 2 HG00597.hp2
HG03195.hp2
HG00597.hp2
HG03195.hp2
 intron_variant MODIFIER c.880-4428G>A
c.880-4428G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501957
chr1:8501974 C
C
 T
T
 2 a0001c0001t0001g0064
a0001c0019t0014g0119
a0001c0001t0001g0064
a0001c0019t0014g0119
 2 HG00597.hp2
HG03195.hp2
HG00597.hp2
HG03195.hp2
 intron_variant MODIFIER c.880-4445G>A
c.880-4445G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501974
chr1:8501980 G
G
 GT
GT
 2 a0001c0001t0001g0064
a0001c0019t0014g0119
a0001c0001t0001g0064
a0001c0019t0014g0119
 2 HG00597.hp2
HG03195.hp2
HG00597.hp2
HG03195.hp2
 intron_variant MODIFIER c.880-4452_880-4451i
others(3): Show 
c.880-4452_880-4451insA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501980
chr1:8501985 T
T
 G
G
 2 a0001c0001t0001g0064
a0001c0019t0014g0119
a0001c0001t0001g0064
a0001c0019t0014g0119
 2 HG00597.hp2
HG03195.hp2
HG00597.hp2
HG03195.hp2
 intron_variant MODIFIER c.880-4456A>C
c.880-4456A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501985
chr1:8501985 T
T
 TG
TG
 40 a0001c0001t0001g0059
a0001c0001t0001g0067
a0001c0001t0003g0087
others(37): Show 
a0001c0001t0001g0059
a0001c0001t0001g0067
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0038g0195
a0001c0002t0002g0149
a0001c0002t0005g0114
a0001c0002t0005g0130
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0004t0005g0079
a0001c0004t0025g0080
a0001c0005t0019g0030
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0004c0012t0008g0137
a0004c0012t0008g0138
a0008c0017t0003g0101
a0010c0027t0003g0086
 40 HG00280.hp2
HG00544.hp1
HG00609.hp1
others(37): Show 
HG00280.hp2
HG00544.hp1
HG00609.hp1
HG01261.hp1
HG01496.hp1
HG01515.hp1
HG01934.hp1
HG02004.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02602.hp1
HG02735.hp2
HG02809.hp1
HG02976.hp2
HG03130.hp2
HG03195.hp1
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG03831.hp2
HG04115.hp1
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.880-4457dupC
c.880-4457dupC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501985
chr1:8501986 G
G
 GCGCCTCT
others(17): Show 
GCGCCTCTGCCCGGCCGCCCCTACT
 2 a0001c0001t0001g0064
a0001c0019t0014g0119
a0001c0001t0001g0064
a0001c0019t0014g0119
 2 HG00597.hp2
HG03195.hp2
HG00597.hp2
HG03195.hp2
 intron_variant MODIFIER c.880-4458_880-4457i
others(26): Show 
c.880-4458_880-4457insAGTAGGGGCGGCCGGGCAGAGGCG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501986
chr1:8501990 G
G
 A
A
 2 a0001c0001t0001g0064
a0001c0019t0014g0119
a0001c0001t0001g0064
a0001c0019t0014g0119
 2 HG00597.hp2
HG03195.hp2
HG00597.hp2
HG03195.hp2
 intron_variant MODIFIER c.880-4461C>T
c.880-4461C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501990
chr1:8501991 G
G
 A
A
 2 a0001c0001t0001g0064
a0001c0019t0014g0119
a0001c0001t0001g0064
a0001c0019t0014g0119
 2 HG00597.hp2
HG03195.hp2
HG00597.hp2
HG03195.hp2
 intron_variant MODIFIER c.880-4462C>T
c.880-4462C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501991
chr1:8501994 C
C
 G
G
 2 a0001c0001t0001g0064
a0001c0019t0014g0119
a0001c0001t0001g0064
a0001c0019t0014g0119
 2 HG00597.hp2
HG03195.hp2
HG00597.hp2
HG03195.hp2
 intron_variant MODIFIER c.880-4465G>C
c.880-4465G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8501994
chr1:8502000 C
C
 T
T
 2 a0001c0001t0001g0064
a0001c0019t0014g0119
a0001c0001t0001g0064
a0001c0019t0014g0119
 2 HG00597.hp2
HG03195.hp2
HG00597.hp2
HG03195.hp2
 intron_variant MODIFIER c.880-4471G>A
c.880-4471G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502000
chr1:8502002 C
C
 T
T
 2 a0001c0001t0001g0064
a0001c0019t0014g0119
a0001c0001t0001g0064
a0001c0019t0014g0119
 2 HG00597.hp2
HG03195.hp2
HG00597.hp2
HG03195.hp2
 intron_variant MODIFIER c.880-4473G>A
c.880-4473G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502002
chr1:8502005 C
C
 A
A
 4 a0001c0004t0006g0146
a0001c0004t0040g0199
a0001c0009t0041g0198
others(1): Show 
a0001c0004t0006g0146
a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
 4 HG02145.hp1
HG02970.hp2
HG06807.hp1
others(1): Show 
HG02145.hp1
HG02970.hp2
HG06807.hp1
NA19043.hp1
 intron_variant MODIFIER c.880-4476G>T
c.880-4476G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502005
chr1:8502006 C
C
 G
G
 2 a0001c0001t0001g0064
a0001c0019t0014g0119
a0001c0001t0001g0064
a0001c0019t0014g0119
 2 HG00597.hp2
HG03195.hp2
HG00597.hp2
HG03195.hp2
 intron_variant MODIFIER c.880-4477G>C
c.880-4477G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502006
chr1:8502034 T
T
 C
C
 2 a0001c0001t0001g0064
a0001c0019t0014g0119
a0001c0001t0001g0064
a0001c0019t0014g0119
 2 HG00597.hp2
HG03195.hp2
HG00597.hp2
HG03195.hp2
 intron_variant MODIFIER c.880-4505A>G
c.880-4505A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502034
chr1:8502034 TG
TG
 T
T
 43 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(40): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0004t0040g0199
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0009t0041g0198
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0004c0012t0008g0137
a0004c0012t0008g0138
a0007c0020t0039g0197
a0008c0017t0003g0101
a0010c0027t0003g0086
 43 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(40): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02735.hp2
HG02970.hp2
HG02976.hp2
HG03195.hp1
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
HG06807.hp1
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.880-4506delC
c.880-4506delC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502034
chr1:8502035 G
G
 GGGGGGGT
others(190): Show 
GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG
GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG
GGGGGTCAGCCCCCCGCACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG
GGGGGGTCAGCCCCCCGCACGGCCAGCCGCCCCGTCCGGGAGGGAGGT
 1 a0001c0001t0001g0061
a0001c0001t0001g0061
 1 NA20300.hp1
NA20300.hp1
 intron_variant MODIFIER c.880-4507_880-4506i
others(199): Show 
c.880-4507_880-4506insACCTCCCTCCCGGACGGGGCGGCTGGCC
GTGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC
CGTGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC
GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG
GGCGGGGGGCTGACCCCCC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502035
chr1:8502036 G
G
 C
C
 2 a0001c0001t0001g0064
a0001c0019t0014g0119
a0001c0001t0001g0064
a0001c0019t0014g0119
 2 HG00597.hp2
HG03195.hp2
HG00597.hp2
HG03195.hp2
 intron_variant MODIFIER c.880-4507C>G
c.880-4507C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502036
chr1:8502042 G
G
 A
A
 44 a0001c0001t0001g0061
a0001c0001t0003g0087
a0001c0001t0003g0088
others(41): Show 
a0001c0001t0001g0061
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0004t0040g0199
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0009t0041g0198
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0004c0012t0008g0137
a0004c0012t0008g0138
a0007c0020t0039g0197
a0008c0017t0003g0101
a0010c0027t0003g0086
 44 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(41): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02735.hp2
HG02970.hp2
HG02976.hp2
HG03195.hp1
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
HG06807.hp1
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20300.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.880-4513C>T
c.880-4513C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502042
chr1:8502042 G
G
 GTCAGCCC
others(270): Show 
GTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG
GGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCAGGAGGTGAGGGGCGCC
TCTGCCCGGCTGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGC
CGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGC
CGCCCCATCCGGGAGGGAGGTGGGGGGGGGCAGCCCCCCGCCCGGCCAGC
CGCCCCGTCCGGGAGGGAGGTGGGGGGA
 1 a0001c0003t0004g0021
a0001c0003t0004g0021
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.880-4514_880-4513i
others(279): Show 
c.880-4514_880-4513insTCCCCCCACCTCCCTCCCGGACGGGGCG
GCTGGCCGGGCGGGGGGCTGCCCCCCCCCACCTCCCTCCCGGATGGGGCG
GCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCG
GCTGGCCGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCAGCCGGGCAGA
GGCGCCCCTCACCTCCTGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACC
CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502042
chr1:8502043 T
T
 G
G
 2 a0001c0001t0001g0064
a0001c0019t0014g0119
a0001c0001t0001g0064
a0001c0019t0014g0119
 2 HG00597.hp2
HG03195.hp2
HG00597.hp2
HG03195.hp2
 intron_variant MODIFIER c.880-4514A>C
c.880-4514A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502043
chr1:8502044 C
C
 G
G
 2 a0001c0001t0001g0064
a0001c0019t0014g0119
a0001c0001t0001g0064
a0001c0019t0014g0119
 2 HG00597.hp2
HG03195.hp2
HG00597.hp2
HG03195.hp2
 intron_variant MODIFIER c.880-4515G>C
c.880-4515G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502044
chr1:8502045 A
A
 G
G
 2 a0001c0001t0001g0064
a0001c0019t0014g0119
a0001c0001t0001g0064
a0001c0019t0014g0119
 2 HG00597.hp2
HG03195.hp2
HG00597.hp2
HG03195.hp2
 intron_variant MODIFIER c.880-4516T>C
c.880-4516T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502045
chr1:8502047 C
C
 T
T
 2 a0001c0001t0001g0064
a0001c0019t0014g0119
a0001c0001t0001g0064
a0001c0019t0014g0119
 2 HG00597.hp2
HG03195.hp2
HG00597.hp2
HG03195.hp2
 intron_variant MODIFIER c.880-4518G>A
c.880-4518G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502047
chr1:8502059 C
C
 G
G
 1 a0001c0010t0007g0026
a0001c0010t0007g0026
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.880-4530G>C
c.880-4530G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502059
chr1:8502066 C
C
 T
T
 1 a0001c0003t0011g0112
a0001c0003t0011g0112
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.880-4537G>A
c.880-4537G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502066
chr1:8502073 C
C
 T
T
 5 a0001c0001t0001g0061
a0001c0004t0006g0146
a0001c0004t0040g0199
others(2): Show 
a0001c0001t0001g0061
a0001c0004t0006g0146
a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
 5 HG02145.hp1
HG02970.hp2
HG06807.hp1
others(2): Show 
HG02145.hp1
HG02970.hp2
HG06807.hp1
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.880-4544G>A
c.880-4544G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502073
chr1:8502074 G
G
 A
A
 117 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(114): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0123
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0027g0106
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0009c0021t0003g0135
 117 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(114): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01884.hp1
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.880-4545C>T
c.880-4545C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502074
chr1:8502079 GT
GT
 G
G
 2 a0001c0001t0001g0064
a0001c0019t0014g0119
a0001c0001t0001g0064
a0001c0019t0014g0119
 2 HG00597.hp2
HG03195.hp2
HG00597.hp2
HG03195.hp2
 intron_variant MODIFIER c.880-4551delA
c.880-4551delA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502079
chr1:8502085 G
G
 T
T
 2 a0001c0001t0001g0064
a0001c0019t0014g0119
a0001c0001t0001g0064
a0001c0019t0014g0119
 2 HG00597.hp2
HG03195.hp2
HG00597.hp2
HG03195.hp2
 intron_variant MODIFIER c.880-4556C>A
c.880-4556C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502085
chr1:8502086 GCGCCTCT
others(16): Show 
GCGCCTCTGCCCGGCTGCCCCTAC
 G
G
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.880-4580_880-4558d
others(25): Show 
c.880-4580_880-4558delGTAGGGGCAGCCGGGCAGAGGCG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502086
chr1:8502087 C
C
 G
G
 1 a0001c0001t0001g0064
a0001c0001t0001g0064
 1 HG00597.hp2
HG00597.hp2
 intron_variant MODIFIER c.880-4558G>C
c.880-4558G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502087
chr1:8502088 GCCTCTGC
others(15): Show 
GCCTCTGCCCGGCTGCCCCTACT
 G
G
 1 a0001c0001t0001g0064
a0001c0001t0001g0064
 1 HG00597.hp2
HG00597.hp2
 intron_variant MODIFIER c.880-4581_880-4560d
others(24): Show 
c.880-4581_880-4560delAGTAGGGGCAGCCGGGCAGAGG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502088
chr1:8502101 T
T
 C
C
 5 a0001c0001t0001g0061
a0001c0004t0006g0146
a0001c0004t0040g0199
others(2): Show 
a0001c0001t0001g0061
a0001c0004t0006g0146
a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
 5 HG02145.hp1
HG02970.hp2
HG06807.hp1
others(2): Show 
HG02145.hp1
HG02970.hp2
HG06807.hp1
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.880-4572A>G
c.880-4572A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502101
chr1:8502110 T
T
 G
G
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.880-4581A>C
c.880-4581A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502110
chr1:8502114 A
A
 G
G
 2 a0001c0001t0001g0064
a0001c0019t0014g0119
a0001c0001t0001g0064
a0001c0019t0014g0119
 2 HG00597.hp2
HG03195.hp2
HG00597.hp2
HG03195.hp2
 intron_variant MODIFIER c.880-4585T>C
c.880-4585T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502114
chr1:8502115 A
A
 G
G
 2 a0001c0001t0001g0064
a0001c0019t0014g0119
a0001c0001t0001g0064
a0001c0019t0014g0119
 2 HG00597.hp2
HG03195.hp2
HG00597.hp2
HG03195.hp2
 intron_variant MODIFIER c.880-4586T>C
c.880-4586T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502115
chr1:8502118 G
G
 C
C
 2 a0001c0001t0001g0064
a0001c0019t0014g0119
a0001c0001t0001g0064
a0001c0019t0014g0119
 2 HG00597.hp2
HG03195.hp2
HG00597.hp2
HG03195.hp2
 intron_variant MODIFIER c.880-4589C>G
c.880-4589C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502118
chr1:8502122 A
A
 AG
AG
 5 a0001c0001t0001g0061
a0001c0004t0006g0146
a0001c0004t0040g0199
others(2): Show 
a0001c0001t0001g0061
a0001c0004t0006g0146
a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
 5 HG02145.hp1
HG02970.hp2
HG06807.hp1
others(2): Show 
HG02145.hp1
HG02970.hp2
HG06807.hp1
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.880-4594_880-4593i
others(3): Show 
c.880-4594_880-4593insC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502122
chr1:8502126 C
C
 T
T
 2 a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0153
a0001c0001t0006g0154
 2 HG03225.hp2
NA20300.hp2
HG03225.hp2
NA20300.hp2
 intron_variant MODIFIER c.880-4597G>A
c.880-4597G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502126
chr1:8502127 T
T
 C
C
 2 a0001c0001t0001g0064
a0001c0019t0014g0119
a0001c0001t0001g0064
a0001c0019t0014g0119
 2 HG00597.hp2
HG03195.hp2
HG00597.hp2
HG03195.hp2
 intron_variant MODIFIER c.880-4598A>G
c.880-4598A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502127
chr1:8502129 T
T
 C
C
 2 a0001c0001t0001g0064
a0001c0019t0014g0119
a0001c0001t0001g0064
a0001c0019t0014g0119
 2 HG00597.hp2
HG03195.hp2
HG00597.hp2
HG03195.hp2
 intron_variant MODIFIER c.880-4600A>G
c.880-4600A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502129
chr1:8502129 T
T
 TGCCCGGC
others(860): Show 
TGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC
GCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG
CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCG
CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGC
CTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTGCC
CCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGA
GGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAG
GGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGG
GAGGTGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA
GGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAG
GTGAGGGGCGCCTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGACCCCTC
TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC
GCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG
CACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGC
CTGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC
CCTACTGGGAAGTGAGGAGCCCCTCTGCCGGGCCAGCCGCCCCGTCCGGG
AGGGAGGCGCGGGGGGGGGGTCGGCCAGCCGCCCCGTCCGGGAGGGAGGT
GGGGGGGGTCAGCCCCCC
 1 a0005c0013t0021g0023
a0005c0013t0021g0023
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.880-4601_880-4600i
others(869): Show 
c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC
CGGACGGGGCGGCTGGCCGACCCCCCCCCCGCGCCTCCCTCCCGGACGGG
GCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG
CAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCT
GATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCTG
ACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGA
CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCCT
CACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG
GGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGG
GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGAC
GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATG
GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG
GGCGGCTGGCCGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCAGCCGGG
CAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCT
GATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG
ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG
ACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGA
CCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502129
chr1:8502129 T
T
 TGCCCGGC
others(858): Show 
TGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC
GCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG
CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCG
CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGC
CTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTGCC
CCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGA
GGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAG
GGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGG
GAGGTGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAG
GGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGG
TGAGGGGCGCCTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGACCCCTCT
GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG
CCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGC
ACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCC
TGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCC
CTACTGGGAAGTGAGGAGCCCCTCTGCCGGGCCAGCCGCCCCGTCCGGGA
GGGAGGCGCGGGGGGGGGTCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG
GGGGGGTCAGCCCCCC
 1 a0005c0013t0029g0111
a0005c0013t0029g0111
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.880-4601_880-4600i
others(867): Show 
c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC
CGGACGGGGCGGCTGGCCGACCCCCCCCCGCGCCTCCCTCCCGGACGGGG
CGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC
AGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCTG
ATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCTGA
CCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGAC
CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCCTC
ACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG
GGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGG
GCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGG
GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGG
GCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGG
CGGCTGGCCGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCAGCCGGGCA
GAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGA
TCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC
CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC
CCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACC
CCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502129
chr1:8502129 T
T
 TGCCCGGC
others(364): Show 
TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCC
CCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCC
CGCACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCAGCCC
CCCGCACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCC
CCGCCTGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGC
CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCGGGCCAGCCGCCCCGTC
CGGGAGGGAGGCGCGGGGGGGGGGTCGGCCAGCCGCCCCGTCCGGGAGGG
AGGTGGGGGGGGTCAGCCCCCC
 1 a0001c0003t0004g0021
a0001c0003t0004g0021
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.880-4601_880-4600i
others(373): Show 
c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC
CGGACGGGGCGGCTGGCCGACCCCCCCCCCGCGCCTCCCTCCCGGACGGG
GCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG
CAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCT
GATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCTG
ACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGC
TGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGGC
TGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502129
chr1:8502129 T
T
 TGCCCGGC
others(363): Show 
TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCC
CGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC
GCACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGGTCAGCCC
CCGCACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCC
CGCCTGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCC
GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCGGGCCAGCCGCCCCGTCC
GGGAGGGAGGCGCGGGGGGGGGGTCGGCCAGCCGCCCCGTCCGGGAGGGA
GGTGGGGGGGGTCAGCCCCCC
 1 a0001c0003t0011g0096
a0001c0003t0011g0096
 1 HG02074.hp1
HG02074.hp1
 intron_variant MODIFIER c.880-4601_880-4600i
others(372): Show 
c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC
CGGACGGGGCGGCTGGCCGACCCCCCCCCCGCGCCTCCCTCCCGGACGGG
GCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG
CAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCT
GATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGCTGA
CCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGC
TGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCT
GACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502129
chr1:8502129 T
T
 TGCCCGGC
others(362): Show 
TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCC
CGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC
GCACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCC
CGCACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCC
GCCTGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCG
CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCGGGCCAGCCGCCCCGTCCG
GGAGGGAGGCGCGGGGGGGGGGTCGGCCAGCCGCCCCGTCCGGGAGGGAG
GTGGGGGGGGTCAGCCCCCC
 1 a0001c0002t0002g0151
a0001c0002t0002g0151
 1 HG01261.hp2
HG01261.hp2
 intron_variant MODIFIER c.880-4601_880-4600i
others(371): Show 
c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC
CGGACGGGGCGGCTGGCCGACCCCCCCCCCGCGCCTCCCTCCCGGACGGG
GCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG
CAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCT
GATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCTG
ACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCT
GACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTG
ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502129
chr1:8502129 T
T
 TGCCCGGC
others(561): Show 
TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCC
CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGATCAGCCCCC
CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC
GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG
CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGC
CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGC
ACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCAGCCCCCC
GCACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCG
CCTGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC
CCCTACTGGGAAGTGAGGAGCCCCTCTGCCGGGCCAGCCGCCCCGTCCGG
GAGGGAGGCGCGGGGGGGGGGTCGGCCAGCCGCCCCGTCCGGGAGGGAGG
TGGGGGGGGTCAGCCCCCC
 1 a0001c0001t0001g0055
a0001c0001t0001g0055
 1 HG04199.hp2
HG04199.hp2
 intron_variant MODIFIER c.880-4601_880-4600i
others(570): Show 
c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC
CGGACGGGGCGGCTGGCCGACCCCCCCCCCGCGCCTCCCTCCCGGACGGG
GCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG
CAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCT
GATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCTG
ACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGC
TGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC
TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCT
GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG
ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA
TCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA
CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502129
chr1:8502129 T
T
 TGCCCGGC
others(911): Show 
TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCC
TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGATCAGCCCCC
CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC
GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCC
GCCTGGCCAGCCGCCCCGTCCAGGAGGTGAGGGGCGCCTCTGCCCGGCTG
CCCCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGG
GAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGG
AGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA
GGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA
GGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAG
GTGAGGGGCGCCTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGACCCCTC
TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC
GCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG
CACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCC
GCACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCG
CCTGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC
CCCTACTGGGAAGTGAGGAGCCCCTCTGCCGGGCCAGCCGCCCCGTCCGG
GAGGGAGGCGCGGGGGGGGGGTCGGCCAGCCGCCCCGTCCGGGAGGGAGG
TGGGGGGGGTCAGCCCCCC
 1 a0001c0001t0006g0154
a0001c0001t0006g0154
 1 NA20300.hp2
NA20300.hp2
 intron_variant MODIFIER c.880-4601_880-4600i
others(920): Show 
c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC
CGGACGGGGCGGCTGGCCGACCCCCCCCCCGCGCCTCCCTCCCGGACGGG
GCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG
CAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCT
GATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCTG
ACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCT
GACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTG
ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCC
TCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC
GGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACG
GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACG
GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGG
GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGG
GCGGCTGGCCGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCAGCCGGGC
AGAGGCGCCCCTCACCTCCTGGACGGGGCGGCTGGCCAGGCGGGGGGCTG
ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG
ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA
TCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGA
CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502129
chr1:8502129 T
T
 TGCCCGGC
others(910): Show 
TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCC
TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGATCAGCCCCC
CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC
GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCC
GCCTGGCCAGCCGCCCCGTCCAGGAGGTGAGGGGCGCCTCTGCCCGGCTG
CCCCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGG
GAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGG
AGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA
GGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA
GGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAG
GTGAGGGGCGCCTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGACCCCTC
TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC
GCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG
CACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCC
GCACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCG
CCTGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC
CCCTACTGGGAAGTGAGGAGCCCCTCTGCCGGGCCAGCCGCCCCGTCCGG
GAGGGAGGCGCGGGGGGGGGTCGGCCAGCCGCCCCGTCCGGGAGGGAGGT
GGGGGGGGTCAGCCCCCC
 1 a0001c0001t0006g0153
a0001c0001t0006g0153
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.880-4601_880-4600i
others(919): Show 
c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC
CGGACGGGGCGGCTGGCCGACCCCCCCCCGCGCCTCCCTCCCGGACGGGG
CGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC
AGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCTG
ATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCTGA
CCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCTG
ACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGA
CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCCT
CACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG
GGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGG
GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGG
GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGG
GCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGG
CGGCTGGCCGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCAGCCGGGCA
GAGGCGCCCCTCACCTCCTGGACGGGGCGGCTGGCCAGGCGGGGGGCTGA
CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA
CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAT
CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGAC
CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502129
chr1:8502129 T
T
 TGCCCGGC
others(587): Show 
TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC
CGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGGCAGCCCCCC
GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCG
CCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTGC
CCCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG
AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGG
AGGGAGGTGGGGGGGTCAGCCCCCCGCACGGCCAGCCGCCCCGTCCGGGA
GGGAGGTGGGGGGGGGTCAGCCCCCCGCACGGCCAGCCGCCCCGTCCGGG
AGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCTGGGA
GGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC
TCTGCCGGGCCAGCCGCCCCGTCCGGGAGGGAGGCGCGGGGGGGGGGTCG
GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCC
 1 a0001c0003t0004g0012
a0001c0003t0004g0012
 1 HG00544.hp2
HG00544.hp2
 intron_variant MODIFIER c.880-4601_880-4600i
others(596): Show 
c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC
CGGACGGGGCGGCTGGCCGACCCCCCCCCCGCGCCTCCCTCCCGGACGGG
GCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG
CAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCT
GATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCTG
ACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCT
GACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTG
ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTC
CTCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGA
CGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGAC
GGGGCGGCTGGCCGGGCGGGGGGCTGCCCCCCCCACCTCCCTCCCGGATG
GGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACG
GGGCGGCTGGCCGGGC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502129
chr1:8502129 T
T
 TGCCCGGC
others(587): Show 
TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC
GCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGGCAGCCCCCCG
CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGC
CTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTGCC
CCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGA
GGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAG
GGAGGTGGGGGGGTCAGCCCCCCGCACGGCCAGCCGCCCCGTCCGGGAGG
GAGGTGGGGGGGGGGTCAGCCCCCCGCACGGCCAGCCGCCCCGTCCGGGA
GGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCTGGGAG
GTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCT
CTGCCGGGCCAGCCGCCCCGTCCGGGAGGGAGGCGCGGGGGGGGGGGTCG
GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCC
 1 a0001c0001t0001g0073
a0001c0001t0001g0073
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.880-4601_880-4600i
others(596): Show 
c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC
CGGACGGGGCGGCTGGCCGACCCCCCCCCCCGCGCCTCCCTCCCGGACGG
GGCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG
GCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGC
TGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCT
GACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGG
CTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGC
TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGT
CCTCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGG
ACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGA
CGGGGCGGCTGGCCGGGCGGGGGGCTGCCCCCCCCACCTCCCTCCCGGAT
GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACG
GGGCGGCTGGCCGGGC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502129
chr1:8502129 T
T
 TGCCCGGC
others(586): Show 
TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC
GCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGGCAGCCCCCCG
CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGC
CTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTGCC
CCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGA
GGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAG
GGAGGTGGGGGGGTCAGCCCCCCGCACGGCCAGCCGCCCCGTCCGGGAGG
GAGGTGGGGGGGGGGTCAGCCCCCCGCACGGCCAGCCGCCCCGTCCGGGA
GGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCTGGGAG
GTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCT
CTGCCGGGCCAGCCGCCCCGTCCGGGAGGGAGGCGCGGGGGGGGGGTCGG
CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCC
 1 a0001c0003t0004g0017
a0001c0003t0004g0017
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.880-4601_880-4600i
others(595): Show 
c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC
CGGACGGGGCGGCTGGCCGACCCCCCCCCCGCGCCTCCCTCCCGGACGGG
GCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG
CAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCT
GATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCTG
ACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGC
TGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCT
GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTC
CTCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGA
CGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGAC
GGGGCGGCTGGCCGGGCGGGGGGCTGCCCCCCCCACCTCCCTCCCGGATG
GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG
GGCGGCTGGCCGGGC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502129
chr1:8502129 T
T
 TGCCCGGC
others(586): Show 
TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC
GCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGGCAGCCCCCCG
CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGC
CTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTGCC
CCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGA
GGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAG
GGAGGTGGGGGGGTCAGCCCCCCGCACGGCCAGCCGCCCCGTCCGGGAGG
GAGGTGGGGGGGGGGTCAGCCCCCCGCACGGCCAGCCGCCCCGTCCTGGA
GGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCTGGGAG
GTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCT
CTGCCGGGCCAGCCGCCCCGTCCGGGAGGGAGGCGCGGGGGGGGGGTCGG
CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCC
 1 a0001c0001t0001g0037
a0001c0001t0001g0037
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.880-4601_880-4600i
others(595): Show 
c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC
CGGACGGGGCGGCTGGCCGACCCCCCCCCCGCGCCTCCCTCCCGGACGGG
GCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG
CAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCT
GATCCCCCCACCTCCCTCCAGGACGGGGCGGCTGGCCGTGCGGGGGGCTG
ACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGC
TGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCT
GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTC
CTCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGA
CGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGAC
GGGGCGGCTGGCCGGGCGGGGGGCTGCCCCCCCCACCTCCCTCCCGGATG
GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG
GGCGGCTGGCCGGGC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502129
chr1:8502129 T
T
 TGCCCGGC
others(586): Show 
TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC
GCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGGCAGCCCCCCG
CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGC
CTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTGCC
CCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGA
GGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAG
GGAGGTGGGGGGGTCAGCCCCCCGCACGGCCAGCCGCCCCGTCCGGGAGG
GAGGTGGGGGGGGGTCAGCCCCCCGCACGGCCAGCCGCCCCGTCCGGGAG
GGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCTGGGAGG
TGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTC
TGCCGGGCCAGCCGCCCCGTCCGGGAGGGAGGCGCGGGGGGGGGGTCGGC
CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCC
 1 a0001c0003t0017g0032
a0001c0003t0017g0032
 1 HG04115.hp2
HG04115.hp2
 intron_variant MODIFIER c.880-4601_880-4600i
others(595): Show 
c.880-4601_880-4600insGGGGGGCTGACCCCCCCCCACCTCCCTC
CCGGACGGGGCGGCTGGCCGACCCCCCCCCCGCGCCTCCCTCCCGGACGG
GGCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG
GCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGC
TGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCT
GACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGC
TGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCT
GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTC
CTCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGA
CGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGAC
GGGGCGGCTGGCCGGGCGGGGGGCTGCCCCCCCCACCTCCCTCCCGGATG
GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG
GGCGGCTGGCCGGGC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502129
chr1:8502129 T
T
 TGCCCGGC
others(585): Show 
TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC
GCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGGCAGCCCCCCG
CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGC
CTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTGCC
CCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGA
GGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAG
GGAGGTGGGGGGGTCAGCCCCCCGCACGGCCAGCCGCCCCGTCCGGGAGG
GAGGTGGGGGGGGGTCAGCCCCCCGCACGGCCAGCCGCCCCGTCCGGGAG
GGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCTGGGAGG
TGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTC
TGCCGGGCCAGCCGCCCCGTCCGGGAGGGAGGCGCGGGGGGGGGGTCGGC
CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCC
 22 a0001c0003t0004g0007
a0001c0003t0004g0035
a0001c0003t0004g0036
others(19): Show 
a0001c0003t0004g0007
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0078
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0004t0005g0123
a0001c0007t0001g0008
a0001c0009t0004g0016
a0001c0010t0007g0026
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0029
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0006c0025t0007g0025
 22 HG00639.hp2
HG01255.hp1
HG01361.hp2
others(19): Show 
HG00639.hp2
HG01255.hp1
HG01361.hp2
HG01981.hp1
HG02280.hp1
HG02280.hp2
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02970.hp1
HG03041.hp2
HG03139.hp2
HG03540.hp2
HG03654.hp2
HG03831.hp1
NA18939.hp1
NA19009.hp2
NA19043.hp2
 intron_variant MODIFIER c.880-4601_880-4600i
others(594): Show 
c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC
CGGACGGGGCGGCTGGCCGACCCCCCCCCCGCGCCTCCCTCCCGGACGGG
GCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG
CAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCT
GATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCTG
ACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCT
GACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTG
ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCC
TCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC
GGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACG
GGGCGGCTGGCCGGGCGGGGGGCTGCCCCCCCCACCTCCCTCCCGGATGG
GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGG
GCGGCTGGCCGGGC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502129
chr1:8502129 T
T
 TGCCCGGC
others(584): Show 
TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC
GCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGGCAGCCCCCCG
CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGC
CTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTGCC
CCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGA
GGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAG
GGAGGTGGGGGGGTCAGCCCCCCGCACGGCCAGCCGCCCCGTCCGGGAGG
GAGGTGGGGGGGGGTCAGCCCCCCGCACGGCCAGCCGCCCCGTCCGGGAG
GGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCTGGGAGG
TGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTC
TGCCGGGCCAGCCGCCCCGTCCGGGAGGGAGGCGCGGGGGGGGGTCGGCC
AGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCC
 8 a0001c0001t0001g0074
a0001c0003t0004g0010
a0001c0003t0004g0014
others(5): Show 
a0001c0001t0001g0074
a0001c0003t0004g0010
a0001c0003t0004g0014
a0001c0003t0004g0042
a0001c0003t0011g0112
a0001c0009t0004g0020
a0001c0010t0007g0034
a0001c0011t0007g0028
 8 HG01168.hp2
HG01358.hp2
HG02451.hp2
others(5): Show 
HG01168.hp2
HG01358.hp2
HG02451.hp2
HG02683.hp2
HG02965.hp1
HG02976.hp1
NA18993.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.880-4601_880-4600i
others(593): Show 
c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC
CGGACGGGGCGGCTGGCCGACCCCCCCCCGCGCCTCCCTCCCGGACGGGG
CGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC
AGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCTG
ATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCTGA
CCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCTG
ACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGA
CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCCT
CACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG
GGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGG
GGCGGCTGGCCGGGCGGGGGGCTGCCCCCCCCACCTCCCTCCCGGATGGG
GCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGG
CGGCTGGCCGGGC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502129
chr1:8502129 T
T
 TGCCCGGC
others(584): Show 
TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC
GCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGGCAGCCCCCCG
CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGC
CTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTGCC
CCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGA
GGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAG
GGAGGTGGGGGGGTCAGCCCCCCGCACGGCCAGCCGCCCCGTCCGGGAGG
GAGGTGGGGGGGGTCAGCCCCCCGCACGGCCAGCCGCCCCGTCCGGGAGG
GAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCTGGGAGGT
GAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT
GCCGGGCCAGCCGCCCCGTCCGGGAGGGAGGCGCGGGGGGGGGGTCGGCC
AGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCC
 1 a0001c0002t0005g0125
a0001c0002t0005g0125
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.880-4601_880-4600i
others(593): Show 
c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC
CGGACGGGGCGGCTGGCCGACCCCCCCCCCGCGCCTCCCTCCCGGACGGG
GCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG
CAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCT
GATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCTG
ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCTG
ACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGA
CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCCT
CACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG
GGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGG
GGCGGCTGGCCGGGCGGGGGGCTGCCCCCCCCACCTCCCTCCCGGATGGG
GCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGG
CGGCTGGCCGGGC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502129
chr1:8502129 T
T
 TGCCCGGC
others(588): Show 
TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC
GCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGGGCAGCCCCCC
GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCG
CCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTGC
CCCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG
AGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGA
GGGAGGTGGGGGGGGGCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA
GGGAGGTGGGGGGGGGTCAGCCCCCCGCACGGCCAGCCGCCCCGTCCGGG
AGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCTGGGA
GGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC
TCTGCCGGGCCAGCCGCCCCGTCCGGGAGGGAGGCGCGGGGGGGGGGTCG
GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCC
 1 a0001c0003t0004g0011
a0001c0003t0004g0011
 1 NA18946.hp1
NA18946.hp1
 intron_variant MODIFIER c.880-4601_880-4600i
others(597): Show 
c.880-4601_880-4600insGGGGGGCTGACCCCCCCCCACCTCCCTC
CCGGACGGGGCGGCTGGCCGACCCCCCCCCCGCGCCTCCCTCCCGGACGG
GGCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG
GCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGC
TGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCT
GACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC
TGCCCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGC
TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGT
CCTCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGG
ACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGA
CGGGGCGGCTGGCCGGGCGGGGGGCTGCCCCCCCCCACCTCCCTCCCGGA
TGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAC
GGGGCGGCTGGCCGGGC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502129
chr1:8502129 T
T
 TGCCCGGC
others(586): Show 
TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC
GCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGGGCAGCCCCCC
GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCG
CCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTGC
CCCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG
AGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGA
GGGAGGTGGGGGGGGGCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA
GGGAGGTGGGGGGGGGTCAGCCCCCCGCACGGCCAGCCGCCCCGTCCGGG
AGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCTGGGA
GGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC
TCTGCCGGGCCAGCCGCCCCGTCCGGGAGGGAGGCGCGGGGGGGGGTCGG
CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCC
 1 a0001c0003t0004g0019
a0001c0003t0004g0019
 1 NA18973.hp1
NA18973.hp1
 intron_variant MODIFIER c.880-4601_880-4600i
others(595): Show 
c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC
CGGACGGGGCGGCTGGCCGACCCCCCCCCGCGCCTCCCTCCCGGACGGGG
CGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC
AGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCTG
ATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCTGA
CCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG
CCCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTG
ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCC
TCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC
GGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACG
GGGCGGCTGGCCGGGCGGGGGGCTGCCCCCCCCCACCTCCCTCCCGGATG
GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG
GGCGGCTGGCCGGGC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502129
chr1:8502129 T
T
 TGCCCGGC
others(586): Show 
TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC
GCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGGGCAGCCCCCC
GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCG
CCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTGC
CCCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG
AGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGA
GGGAGGTGGGGGGGTCAGCCCCCCGCACGGCCAGCCGCCCCGTCCGGGAG
GGAGGTGGGGGGGGGTCAGCCCCCCGCACGGCCAGCCGCCCCGTCCGGGA
GGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCTGGGAG
GTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCT
CTGCCGGGCCAGCCGCCCCGTCCGGGAGGGAGGCGCGGGGGGGGGGTCGG
CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCC
 2 a0001c0003t0004g0068
a0001c0003t0008g0105
a0001c0003t0004g0068
a0001c0003t0008g0105
 2 HG00741.hp2
HG02258.hp2
HG00741.hp2
HG02258.hp2
 intron_variant MODIFIER c.880-4601_880-4600i
others(595): Show 
c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC
CGGACGGGGCGGCTGGCCGACCCCCCCCCCGCGCCTCCCTCCCGGACGGG
GCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG
CAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCT
GATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCTG
ACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCT
GACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTG
ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCC
TCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC
GGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACG
GGGCGGCTGGCCGGGCGGGGGGCTGCCCCCCCCCACCTCCCTCCCGGATG
GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG
GGCGGCTGGCCGGGC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502129
chr1:8502129 T
T
 TGCCCGGC
others(363): Show 
TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC
GCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG
CACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGGGTCAGCCC
CCGCACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCC
CGCCTGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCC
GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCGGGCCAGCCGCCCCGTCC
GGGAGGGAGGCGCGGGGGGGGGGTCGGCCAGCCGCCCCGTCCGGGAGGGA
GGTGGGGGGGGTCAGCCCCCC
 2 a0001c0007t0003g0098
a0002c0006t0003g0097
a0001c0007t0003g0098
a0002c0006t0003g0097
 2 NA18944.hp2
NA19000.hp1
NA18944.hp2
NA19000.hp1
 intron_variant MODIFIER c.880-4601_880-4600i
others(372): Show 
c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC
CGGACGGGGCGGCTGGCCGACCCCCCCCCCGCGCCTCCCTCCCGGACGGG
GCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG
CAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCT
GATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGCTGA
CCCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGG
CTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGC
TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502129
chr1:8502129 T
T
 TGCCCGGC
others(362): Show 
TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC
GCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG
CACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGGTCAGCCCC
CGCACAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCC
GCCTGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCG
CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCGGGCCAGCCGCCCCGTCCG
GGAGGGAGGCGCGGGGGGGGGGTCGGCCAGCCGCCCCGTCCGGGAGGGAG
GTGGGGGGGGTCAGCCCCCC
 1 a0002c0006t0024g0081
a0002c0006t0024g0081
 1 NA19005.hp2
NA19005.hp2
 intron_variant MODIFIER c.880-4601_880-4600i
others(371): Show 
c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC
CGGACGGGGCGGCTGGCCGACCCCCCCCCCGCGCCTCCCTCCCGGACGGG
GCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG
CAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCT
GATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGTGCGGGGGCTGA
CCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGC
TGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCT
GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502129
chr1:8502129 T
T
 TGCCCGGC
others(363): Show 
TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC
GCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG
CACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGGTCAGCCCC
CGCACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCC
GCCTGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCG
CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCGGGCCAGCCGCCCCGTCCG
GGAGGGAGGCGCGGGGGGGGGGTCGGCCAGCCGCCCCGTCCGGGAGGGAG
GTGGGGGGGGGTCAGCCCCCC
 3 a0001c0001t0003g0102
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0102
a0001c0001t0003g0104
a0001c0001t0003g0115
 3 HG00597.hp1
HG00609.hp1
HG03688.hp2
HG00597.hp1
HG00609.hp1
HG03688.hp2
 intron_variant MODIFIER c.880-4601_880-4600i
others(372): Show 
c.880-4601_880-4600insGGGGGGCTGACCCCCCCCCACCTCCCTC
CCGGACGGGGCGGCTGGCCGACCCCCCCCCCGCGCCTCCCTCCCGGACGG
GGCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG
GCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGC
TGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGCTG
ACCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGG
CTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGC
TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502129
chr1:8502129 T
T
 TGCCCGGC
others(362): Show 
TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC
GCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG
CACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGGTCAGCCCC
CGCACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCC
GCCTGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCG
CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCGGGCCAGCCGCCCCGTCCG
GGAGGGAGGCGCGGGGGGGGGGTCGGCCAGCCGCCCCGTCCGGGAGGGAG
GTGGGGGGGGTCAGCCCCCC
 6 a0001c0001t0003g0088
a0001c0001t0006g0181
a0001c0001t0023g0113
others(3): Show 
a0001c0001t0003g0088
a0001c0001t0006g0181
a0001c0001t0023g0113
a0001c0002t0005g0114
a0001c0003t0008g0085
a0001c0004t0005g0083
 6 HG00544.hp1
HG01433.hp2
HG01496.hp1
others(3): Show 
HG00544.hp1
HG01433.hp2
HG01496.hp1
HG01934.hp1
HG02004.hp1
HG04115.hp1
 intron_variant MODIFIER c.880-4601_880-4600i
others(371): Show 
c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC
CGGACGGGGCGGCTGGCCGACCCCCCCCCCGCGCCTCCCTCCCGGACGGG
GCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG
CAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCT
GATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGCTGA
CCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGC
TGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCT
GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502129
chr1:8502129 T
T
 TGCCCGGC
others(361): Show 
TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC
GCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG
CACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGGTCAGCCCC
CGCACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCC
GCCTGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCG
CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCGGGCCAGCCGCCCCGTCCG
GGAGGGAGGCGCGGGGGGGGGTCGGCCAGCCGCCCCGTCCGGGAGGGAGG
TGGGGGGGGTCAGCCCCCC
 2 a0004c0012t0008g0137
a0004c0012t0008g0138
a0004c0012t0008g0137
a0004c0012t0008g0138
 2 HG02976.hp2
HG03195.hp1
HG02976.hp2
HG03195.hp1
 intron_variant MODIFIER c.880-4601_880-4600i
others(370): Show 
c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC
CGGACGGGGCGGCTGGCCGACCCCCCCCCGCGCCTCCCTCCCGGACGGGG
CGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC
AGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCTG
ATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGCTGAC
CCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCT
GACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTG
ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502129
chr1:8502129 T
T
 TGCCCGGC
others(362): Show 
TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC
GCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG
CACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCAGCCCCC
CGCACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCC
GCCTGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCG
CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCGGGCCAGCCGCCCCGTCCG
GGAGGGAGGCGCGGGGGGGGGGTCGGCCAGCCGCCCCGTCCGGGAGGGAG
GTGGGGGGGGTCAGCCCCCC
 4 a0001c0002t0002g0148
a0001c0002t0002g0150
a0001c0002t0002g0176
others(1): Show 
a0001c0002t0002g0148
a0001c0002t0002g0150
a0001c0002t0002g0176
a0001c0002t0002g0177
 4 HG01981.hp2
HG03209.hp2
HG04184.hp1
others(1): Show 
HG01981.hp2
HG03209.hp2
HG04184.hp1
NA18967.hp2
 intron_variant MODIFIER c.880-4601_880-4600i
others(371): Show 
c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC
CGGACGGGGCGGCTGGCCGACCCCCCCCCCGCGCCTCCCTCCCGGACGGG
GCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG
CAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCT
GATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCTG
ACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGC
TGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCT
GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502129
chr1:8502129 T
T
 TGCCCGGC
others(361): Show 
TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC
GCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG
CACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCAGCCCCC
CGCACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCC
GCCTGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCG
CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCGGGCCAGCCGCCCCGTCCG
GGAGGGAGGCGCGGGGGGGGGTCGGCCAGCCGCCCCGTCCGGGAGGGAGG
TGGGGGGGGTCAGCCCCCC
 1 a0001c0002t0002g0149
a0001c0002t0002g0149
 1 HG02602.hp1
HG02602.hp1
 intron_variant MODIFIER c.880-4601_880-4600i
others(370): Show 
c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC
CGGACGGGGCGGCTGGCCGACCCCCCCCCGCGCCTCCCTCCCGGACGGGG
CGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC
AGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCTG
ATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCTGA
CCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCT
GACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTG
ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502129
chr1:8502129 T
T
 TGCCCGGC
others(361): Show 
TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC
GCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG
CACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCAGCCCCC
GCACAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCG
CCTGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC
CCCTACTGGGAAGTGAGGAGCCCCTCTGCCGGGCCAGCCGCCCCGTCCGG
GAGGGAGGCGCGGGGGGGGGGTCGGCCAGCCGCCCCGTCCGGGAGGGAGG
TGGGGGGGGTCAGCCCCCC
 1 a0010c0027t0003g0086
a0010c0027t0003g0086
 1 NA18985.hp1
NA18985.hp1
 intron_variant MODIFIER c.880-4601_880-4600i
others(370): Show 
c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC
CGGACGGGGCGGCTGGCCGACCCCCCCCCCGCGCCTCCCTCCCGGACGGG
GCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG
CAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCT
GATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGTGCGGGGGCTGA
CCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCT
GACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTG
ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502129
chr1:8502129 T
T
 TGCCCGGC
others(362): Show 
TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC
GCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG
CACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCAGCCCCC
GCACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCG
CCTGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC
CCCTACTGGGAAGTGAGGAGCCCCTCTGCCGGGCCAGCCGCCCCGTCCGG
GAGGGAGGCGCGGGGGGGGGGGTCGGCCAGCCGCCCCGTCCGGGAGGGAG
GTGGGGGGGGTCAGCCCCCC
 1 a0001c0001t0003g0087
a0001c0001t0003g0087
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.880-4601_880-4600i
others(371): Show 
c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC
CGGACGGGGCGGCTGGCCGACCCCCCCCCCCGCGCCTCCCTCCCGGACGG
GGCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG
GCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGC
TGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGCTG
ACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGC
TGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCT
GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502129
chr1:8502129 T
T
 TGCCCGGC
others(361): Show 
TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC
GCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG
CACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCAGCCCCC
GCACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCG
CCTGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC
CCCTACTGGGAAGTGAGGAGCCCCTCTGCCGGGCCAGCCGCCCCGTCCGG
GAGGGAGGCGCGGGGGGGGGGTCGGCCAGCCGCCCCGTCCGGGAGGGAGG
TGGGGGGGGTCAGCCCCCC
 9 a0001c0001t0003g0100
a0001c0001t0030g0143
a0001c0002t0006g0145
others(6): Show 
a0001c0001t0003g0100
a0001c0001t0030g0143
a0001c0002t0006g0145
a0001c0004t0025g0080
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0008c0017t0003g0101
 9 HG00280.hp2
HG02132.hp1
HG02155.hp2
others(6): Show 
HG00280.hp2
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG03491.hp1
HG04228.hp2
NA19007.hp2
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.880-4601_880-4600i
others(370): Show 
c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC
CGGACGGGGCGGCTGGCCGACCCCCCCCCCGCGCCTCCCTCCCGGACGGG
GCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG
CAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCT
GATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGCTGA
CCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCT
GACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTG
ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502129
chr1:8502129 T
T
 TGCCCGGC
others(360): Show 
TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC
GCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG
CACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCAGCCCCC
GCACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCG
CCTGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC
CCCTACTGGGAAGTGAGGAGCCCCTCTGCCGGGCCAGCCGCCCCGTCCGG
GAGGGAGGCGCGGGGGGGGGTCGGCCAGCCGCCCCGTCCGGGAGGGAGGT
GGGGGGGGTCAGCCCCCC
 10 a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0103
others(7): Show 
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0103
a0001c0001t0016g0054
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0004t0005g0079
a0001c0007t0003g0084
a0002c0006t0003g0091
a0002c0006t0003g0094
 10 HG01515.hp1
HG01517.hp2
HG02293.hp1
others(7): Show 
HG01515.hp1
HG01517.hp2
HG02293.hp1
HG02735.hp2
NA18964.hp1
NA18983.hp1
NA19002.hp2
NA19074.hp2
NA19090.hp2
NA20129.hp1
 intron_variant MODIFIER c.880-4601_880-4600i
others(369): Show 
c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC
CGGACGGGGCGGCTGGCCGACCCCCCCCCGCGCCTCCCTCCCGGACGGGG
CGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC
AGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCTG
ATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGCTGAC
CCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCTG
ACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGA
CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502129
chr1:8502129 T
T
 TGCCCGGC
others(361): Show 
TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC
GCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG
CACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCC
GCACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCG
CCTGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC
CCCTACTGGGAAGTGAGGAGCCCCTCTGCCGGGCCAGCCGCCCCGTCCGG
GAGGGAGGCGCGGGGGGGGGGTCGGCCAGCCGCCCCGTCCGGGAGGGAGG
TGGGGGGGGTCAGCCCCCC
 25 a0001c0001t0001g0033
a0001c0002t0002g0152
a0001c0002t0002g0158
others(22): Show 
a0001c0001t0001g0033
a0001c0002t0002g0152
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0165
a0001c0002t0002g0169
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0005g0116
a0001c0002t0033g0186
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0204
a0001c0023t0002g0175
a0001c0024t0002g0182
 25 HG00639.hp1
HG01169.hp1
HG01175.hp1
others(22): Show 
HG00639.hp1
HG01169.hp1
HG01175.hp1
HG01255.hp2
HG01517.hp1
HG01884.hp2
HG01934.hp2
HG02027.hp2
HG02080.hp2
HG02109.hp1
HG02132.hp2
HG02257.hp2
HG02293.hp2
HG02486.hp1
HG02818.hp1
HG02896.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03654.hp1
HG04199.hp1
HG04228.hp1
NA18939.hp2
NA19085.hp1
NA20752.hp1
 intron_variant MODIFIER c.880-4601_880-4600i
others(370): Show 
c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC
CGGACGGGGCGGCTGGCCGACCCCCCCCCCGCGCCTCCCTCCCGGACGGG
GCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG
CAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCT
GATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCTG
ACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCT
GACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTG
ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502129
chr1:8502129 T
T
 TGCCCGGC
others(360): Show 
TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC
GCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG
CACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCC
GCACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCG
CCTGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC
CCCTACTGGGAAGTGAGGAGCCCCTCTGCCGGGCCAGCCGCCCCGTCCGG
GAGGGAGGCGCGGGGGGGGGTCGGCCAGCCGCCCCGTCCGGGAGGGAGGT
GGGGGGGGTCAGCCCCCC
 13 a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
others(10): Show 
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0168
a0001c0002t0002g0171
a0001c0002t0002g0174
a0001c0002t0002g0189
a0001c0002t0002g0193
a0001c0002t0035g0160
a0001c0005t0009g0203
a0001c0014t0002g0191
 13 HG00741.hp1
HG01168.hp1
HG01358.hp1
others(10): Show 
HG00741.hp1
HG01168.hp1
HG01358.hp1
HG01361.hp1
HG01515.hp2
HG02129.hp1
HG02451.hp1
HG02559.hp2
HG02735.hp1
HG03209.hp1
HG03669.hp2
NA18946.hp2
NA19070.hp1
 intron_variant MODIFIER c.880-4601_880-4600i
others(369): Show 
c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC
CGGACGGGGCGGCTGGCCGACCCCCCCCCGCGCCTCCCTCCCGGACGGGG
CGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC
AGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCTG
ATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCTGA
CCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCTG
ACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGA
CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502129
chr1:8502129 T
T
 TGCCCGGC
others(360): Show 
TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC
GCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG
CACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCG
CACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGC
CTGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC
CCTACTGGGAAGTGAGGAGCCCCTCTGCCGGGCCAGCCGCCCCGTCCGGG
AGGGAGGCGCGGGGGGGGGGTCGGCCAGCCGCCCCGTCCGGGAGGGAGGT
GGGGGGGGTCAGCCCCCC
 3 a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0031g0144
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0031g0144
 3 HG02523.hp2
NA18973.hp2
NA18993.hp2
HG02523.hp2
NA18973.hp2
NA18993.hp2
 intron_variant MODIFIER c.880-4601_880-4600i
others(369): Show 
c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC
CGGACGGGGCGGCTGGCCGACCCCCCCCCCGCGCCTCCCTCCCGGACGGG
GCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG
CAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCT
GATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGCTGA
CCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCTG
ACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGA
CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502129
chr1:8502129 T
T
 TGCCCGGC
others(583): Show 
TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC
GCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG
CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCG
CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGC
CTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTGCC
CCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGA
GGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAG
GGAGGTGGGGGGGTCAGCCCCCCGCACGGCCAGCCGCCCCGTCCGGGAGG
GAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCTGGGAGGT
GAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT
GCCGGGCCAGCCGCCCCGTCCGGGAGGGAGGCGCGGGGGGGGGTCGGCCA
GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCC
 1 a0001c0002t0005g0110
a0001c0002t0005g0110
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.880-4601_880-4600i
others(592): Show 
c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC
CGGACGGGGCGGCTGGCCGACCCCCCCCCGCGCCTCCCTCCCGGACGGGG
CGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC
AGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCTG
ATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCTGA
CCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGAC
CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCCTC
ACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG
GGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGG
GCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGG
GCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGG
CGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGC
GGCTGGCCGGGC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502129
chr1:8502129 T
T
 TGCCCGGC
others(634): Show 
TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC
GCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG
CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCG
CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGC
CTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTGCC
CCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGA
GGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAG
GGAGGTGGGGGGGTCAGCCCCCCGCACGGCCAGCCGCCCCGTCCGGGAGG
GAGGTGGGGGGGGTCAGCCCCCCGCACGGCCAGCCGCCCCGTCCGGGAGG
GAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCTGGGAGGT
GAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT
GCCGGGCCAGCCGCCCCGTCCCGGAGGGAGGCGCGGGGGGGGGGTCGGCC
AGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCC
 8 a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
others(5): Show 
a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0136
a0001c0002t0028g0133
a0009c0021t0003g0135
 8 HG01175.hp2
HG01884.hp1
HG02145.hp2
others(5): Show 
HG01175.hp2
HG01884.hp1
HG02145.hp2
HG02809.hp1
HG02886.hp1
HG03225.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.880-4601_880-4600i
others(643): Show 
c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC
CGGACGGGGCGGCTGGCCGACCCCCCCCCCGCGCCTCCCTCCGGGACGGG
GCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG
CAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCT
GATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCTG
ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCTG
ACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGA
CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCCT
CACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG
GGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGG
GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGG
GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGG
GCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGG
CGGCTGGCCGGGC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502129
chr1:8502129 T
T
 TGCCCGGC
others(633): Show 
TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC
GCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG
CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCG
CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGC
CTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTGCC
CCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGA
GGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAG
GGAGGTGGGGGGGTCAGCCCCCCGCACGGCCAGCCGCCCCGTCCGGGAGG
GAGGTGGGGGGGGTCAGCCCCCCGCACGGCCAGCCGCCCCGTCCGGGAGG
GAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCTGGGAGGT
GAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT
GCCGGGCCAGCCGCCCCGTCCCGGAGGGAGGCGCGGGGGGGGGTCGGCCA
GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCC
 4 a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0004t0010g0120
others(1): Show 
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0004t0010g0120
a0001c0004t0022g0121
 4 HG01167.hp1
HG02109.hp2
HG02257.hp1
others(1): Show 
HG01167.hp1
HG02109.hp2
HG02257.hp1
HG02818.hp2
 intron_variant MODIFIER c.880-4601_880-4600i
others(642): Show 
c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC
CGGACGGGGCGGCTGGCCGACCCCCCCCCGCGCCTCCCTCCGGGACGGGG
CGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC
AGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCTG
ATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCTGA
CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCTGA
CCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGAC
CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCCTC
ACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG
GGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGG
GCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGG
GCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGG
CGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGC
GGCTGGCCGGGC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502129
chr1:8502129 T
T
 TGCCCGGC
others(816): Show 
TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC
GCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG
CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCG
CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGC
CTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTGCC
CCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGA
GGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAG
GGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGG
GAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGG
GAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGT
GAGGGGCGCCTCTGCCCCGCTGCCCCTACTGGGAAGTGAGGACCCCTCTG
CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGC
CCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCA
CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCT
GGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCC
TACTGGGAAGTGAGGAGCCCCTCTGCCGGGCCAGCCGCCCCGTCCGGGAG
GGAGGTGGGGGGGGTCAGCCCCCC
 1 a0001c0004t0003g0109
a0001c0004t0003g0109
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.880-4601_880-4600i
others(825): Show 
c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC
CGGACGGGGCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG
CGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGC
GGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCG
GGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGG
GGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGA
GGGGTCCTCACTTCCCAGTAGGGGCAGCGGGGCAGAGGCGCCCCTCACCT
CCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTC
CCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTC
CCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCC
CGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCC
GGACGGGGCGGCTGGCCGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCA
GCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGG
GGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG
GGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG
GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGG
GGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502129
chr1:8502129 T
T
 TGCCCGGC
others(634): Show 
TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC
GCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG
CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCG
CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGC
CTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTGCC
CCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGA
GGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAG
GGAGGTGGGGGGGTCAGCCCCCCGCACGGCCAGCCGCCCCGTCCGGGAGG
GAGGTGGGGGGGGGTCAGCCCCCGCACGGCCAGCCGCCCCGTCCGGGAGG
GAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCTGGGAGGT
GAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT
GCCGGGCCAGCCGCCCCGTCCGGGAGGGAGGCGCGGGGGGGGGGTCGGCC
AGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCC
 1 a0001c0004t0014g0126
a0001c0004t0014g0126
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.880-4601_880-4600i
others(643): Show 
c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC
CGGACGGGGCGGCTGGCCGACCCCCCCCCCGCGCCTCCCTCCCGGACGGG
GCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG
CAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCT
GATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGCTGA
CCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCTG
ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA
CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCCT
CACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG
GGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGG
GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGG
GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGG
GCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGG
CGGCTGGCCGGGC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502129
chr1:8502129 T
T
 TGCCCGGC
others(633): Show 
TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC
GCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG
CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCG
CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGC
CTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTGCC
CCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGA
GGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAG
GGAGGTGGGGGGGTCAGCCCCCCGCACGGCCAGCCGCCCCGTCCGGGAGG
GAGGTGGGGGGGGGTCAGCCCCCGCACGGCCAGCCGCCCCGTCCGGGAGG
GAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCTGGGAGGT
GAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT
GCCGGGCCAGCCGCCCCGTCCGGGAGGGAGGCGCGGGGGGGGGTCGGCCA
GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCC
 1 a0001c0005t0026g0127
a0001c0005t0026g0127
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.880-4601_880-4600i
others(642): Show 
c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC
CGGACGGGGCGGCTGGCCGACCCCCCCCCGCGCCTCCCTCCCGGACGGGG
CGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC
AGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCTG
ATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGCTGAC
CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCTGA
CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC
CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCCTC
ACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG
GGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGG
GCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGG
GCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGG
CGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGC
GGCTGGCCGGGC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502129
chr1:8502129 T
T
 TGCCCGGC
others(591): Show 
TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC
GCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG
CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCG
CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGC
CTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTGCC
CCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGA
GGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAG
GGAGGTGGGGGGGTCAGCCCCCCGCACGGCCAGCCGCCCCGTCCGGGAGG
GAGGTGGGGGGGGTCAGCCCCCGCACGGCCAGCCGCCCCGTCCGGGAGGG
AGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCTGGGAGGTG
AGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG
CCGGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCC
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.880-4601_880-4600i
others(600): Show 
c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC
CGGACGGGGCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG
CGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGC
GGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCG
GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGG
GGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG
GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAG
GGGTCCTCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTC
CCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCC
CGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCC
CGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCC
GGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG
GACGGGGCGGCTGGCCGGGC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502129
chr1:8502129 T
T
 TGCCCGGC
others(411): Show 
TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC
GCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG
CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGC
ACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCG
CACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGC
CTGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC
CCTACTGGGAAGTGAGGAGCCCCTCTGCCGGGCCAGCCGCCCCGTCCGGG
AGGGAGGCGCGGGGGGGGGGGTCGGCCAGCCGCCCCGTCCGGGAGGGAGG
TGGGGGGGGTCAGCCCCCC
 1 a0001c0002t0018g0002
a0001c0002t0018g0002
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.880-4601_880-4600i
others(420): Show 
c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC
CGGACGGGGCGGCTGGCCGACCCCCCCCCCCGCGCCTCCCTCCCGGACGG
GGCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG
GCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGC
TGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCT
GACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGC
TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCT
GACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTG
ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502129
chr1:8502129 T
T
 TGCCCGGC
others(394): Show 
TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC
GCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG
CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGC
ACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCG
CACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCGCCCCGT
CTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG
AGCCCCTCTGCCGGGCCAGCCGCCCCGTCCGGGAGGGAGGCGCGGGGGGG
GGGGTCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCC
CC
 1 a0001c0004t0010g0142
a0001c0004t0010g0142
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.880-4601_880-4600i
others(403): Show 
c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC
CGGACGGGGCGGCTGGCCGACCCCCCCCCCCGCGCCTCCCTCCCGGACGG
GGCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG
GCAGAGGCGCCCCTCACCTCCCAGACGGGGCGCTGATCCCCCCACCTCCC
TCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCTGACCCCCCCCCACCTCC
CTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCTGACCCCCCCACCTCCC
TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCT
CCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC
CCGGACGGGGCGGCTGGCCGGGC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502129
chr1:8502129 T
T
 TGCCCGGC
others(562): Show 
TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC
GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGATCAGCCCCCC
GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCC
GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG
CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCG
CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGC
ACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCAGCCCCCC
GCACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCG
CCTGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC
CCCTACTGGGAAGTGAGGAGCCCCTCTGCCGGGCCAGCCGCCCCGTCCGG
GAGGGAGGCGCGGGGGGGGGGTCGGCCAGCCGCCCCGTCCGGGAGGGAGG
TGGGGGGGGGTCAGCCCCCC
 1 a0001c0001t0001g0059
a0001c0001t0001g0059
 1 HG01261.hp1
HG01261.hp1
 intron_variant MODIFIER c.880-4601_880-4600i
others(571): Show 
c.880-4601_880-4600insGGGGGGCTGACCCCCCCCCACCTCCCTC
CCGGACGGGGCGGCTGGCCGACCCCCCCCCCGCGCCTCCCTCCCGGACGG
GGCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG
GCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGC
TGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCT
GACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGG
CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGG
CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC
TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCT
GACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCT
GATCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCT
GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502129
chr1:8502129 T
T
 TGCCCGGC
others(561): Show 
TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC
GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGATCAGCCCCCC
GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCC
GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG
CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGC
CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCA
CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCG
CACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGATCAGCCCCCCG
CCTGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC
CCCTACTGGGAAGTGAGGAGCCCCTCTGCCGGGCCAGCCGCCCCGTCCGG
GAGGGAGGCGCGGGGGGGGGGTCGGCCAGCCGCCCCGTCCGGGAGGGAGG
TGGGGGGGGTCACCCCCCC
 1 a0001c0001t0001g0067
a0001c0001t0001g0067
 1 HG03831.hp2
HG03831.hp2
 intron_variant MODIFIER c.880-4601_880-4600i
others(570): Show 
c.880-4601_880-4600insGGGGGGGTGACCCCCCCCACCTCCCTCC
CGGACGGGGCGGCTGGCCGACCCCCCCCCCGCGCCTCCCTCCCGGACGGG
GCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG
CAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCT
GATCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCT
GACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGG
CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC
TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCT
GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG
ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG
ATCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG
ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502129
chr1:8502129 T
T
 TGCCCGGC
others(561): Show 
TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC
GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGATCAGCCCCCC
GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG
CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCG
CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCG
CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGC
ACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCAGCCCCCC
GCACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCG
CCTGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC
CCCTACTGGGAAGTGAGGAGCCCCTCTGCCGGGCCAGCCGCCCCGTCCGG
GAGGGAGGCGCGGGGGGGGGGTCGGCCAGCCGCCCCGTCCGGGAGGGAGG
TGGGGGGGGTCAGCCCCCC
 1 a0001c0004t0001g0003
a0001c0004t0001g0003
 1 HG04184.hp2
HG04184.hp2
 intron_variant MODIFIER c.880-4601_880-4600i
others(570): Show 
c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC
CGGACGGGGCGGCTGGCCGACCCCCCCCCCGCGCCTCCCTCCCGGACGGG
GCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG
CAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCT
GATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCTG
ACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGC
TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCT
GACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGC
TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCT
GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG
ATCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG
ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502129
chr1:8502129 T
T
 TGCCCGGC
others(509): Show 
TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC
GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGATCAGCCCCCC
GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG
CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGC
CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCA
CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCGC
ACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCC
TGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCC
CTACTGGGAAGTGAGGAGCCCCTCTGCCGGGCCAGCCGCCCCGTCCGGGA
GGGAGGCGCGGGGGGGGGGTCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG
GGGGGGGTCAGCCCCCC
 1 a0001c0001t0001g0052
a0001c0001t0001g0052
 1 NA18983.hp2
NA18983.hp2
 intron_variant MODIFIER c.880-4601_880-4600i
others(518): Show 
c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC
CGGACGGGGCGGCTGGCCGACCCCCCCCCCGCGCCTCCCTCCCGGACGGG
GCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG
CAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCT
GATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCTG
ACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCT
GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG
ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA
CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAT
CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC
CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502129
chr1:8502129 T
T
 TGCCCGGC
others(559): Show 
TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC
GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGATCAGCCCCCC
GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG
CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGC
CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCC
CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCAC
GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCGC
ACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCC
TGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCC
CTACTGGGAAGTGAGGAGCCCCTCTGCCGGGCCAGCCGCCCCGTCCGGGA
GGGAGGCGCGGGGGGGGGGTCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG
GGGGGGGTCAGCCCCCC
 3 a0001c0001t0001g0062
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0001t0001g0062
a0001c0001t0006g0184
a0001c0001t0036g0194
 3 HG01496.hp2
NA18944.hp1
NA18985.hp2
HG01496.hp2
NA18944.hp1
NA18985.hp2
 intron_variant MODIFIER c.880-4601_880-4600i
others(568): Show 
c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC
CGGACGGGGCGGCTGGCCGACCCCCCCCCCGCGCCTCCCTCCCGGACGGG
GCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG
CAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCT
GATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCTG
ACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGC
TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCT
GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG
ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA
CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAT
CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC
CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502129
chr1:8502129 T
T
 TGCCCGGC
others(558): Show 
TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC
GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGATCAGCCCCCC
GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG
CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGC
CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCC
CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCAC
GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCGCA
CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCT
GGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCC
TACTGGGAAGTGAGGAGCCCCTCTGCCGGGCCAGCCGCCCCGTCCGGGAG
GGAGGCGCGGGGGGGGGGTCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG
GGGGGGTCAGCCCCCC
 23 a0001c0001t0001g0015
a0001c0001t0001g0038
a0001c0001t0001g0039
others(20): Show 
a0001c0001t0001g0015
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0063
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0075
a0001c0001t0006g0170
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0018t0001g0005
 23 HG00140.hp2
HG00280.hp1
HG00609.hp2
others(20): Show 
HG00140.hp2
HG00280.hp1
HG00609.hp2
HG01167.hp2
HG01169.hp2
HG01433.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02523.hp1
HG02698.hp2
HG03688.hp1
NA18964.hp2
NA18967.hp1
NA19002.hp1
NA19005.hp1
NA19070.hp2
NA19085.hp2
 intron_variant MODIFIER c.880-4601_880-4600i
others(567): Show 
c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC
CGGACGGGGCGGCTGGCCGACCCCCCCCCCGCGCCTCCCTCCCGGACGGG
GCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG
CAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCT
GATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCTG
ACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCT
GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG
ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA
CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC
CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGATC
CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC
CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502129
chr1:8502129 T
T
 TGCCCGGC
others(557): Show 
TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC
GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGATCAGCCCCCC
GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG
CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGC
CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCC
CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCAC
GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCGCA
CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCT
GGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCC
TACTGGGAAGTGAGGAGCCCCTCTGCCGGGCCAGCCGCCCCGTCCGGGAG
GGAGGCGCGGGGGGGGGTCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG
GGGGGTCACCCCCCC
 2 a0001c0001t0003g0124
a0001c0002t0013g0053
a0001c0001t0003g0124
a0001c0002t0013g0053
 2 HG03491.hp2
NA20905.hp1
HG03491.hp2
NA20905.hp1
 intron_variant MODIFIER c.880-4601_880-4600i
others(566): Show 
c.880-4601_880-4600insGGGGGGGTGACCCCCCCCACCTCCCTCC
CGGACGGGGCGGCTGGCCGACCCCCCCCCGCGCCTCCCTCCCGGACGGGG
CGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC
AGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCTG
ATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCTGA
CCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCTG
ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA
CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC
CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC
CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGATCC
CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCC
CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502129
chr1:8502129 T
T
 TGCCCGGC
others(557): Show 
TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC
GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGATCAGCCCCCC
GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG
CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGC
CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCC
CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCAC
GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCGCA
CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCT
GGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCC
TACTGGGAAGTGAGGAGCCCCTCTGCCGGGCCAGCCGCCCCGTCCGGGAG
GGAGGCGCGGGGGGGGGTCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG
GGGGGTCAGCCCCCC
 6 a0001c0001t0001g0004
a0001c0001t0001g0060
a0001c0001t0001g0069
others(3): Show 
a0001c0001t0001g0004
a0001c0001t0001g0060
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0076
a0001c0001t0001g0077
 6 HG02486.hp2
NA19000.hp2
NA19007.hp1
others(3): Show 
HG02486.hp2
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19074.hp1
NA19090.hp1
 intron_variant MODIFIER c.880-4601_880-4600i
others(566): Show 
c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC
CGGACGGGGCGGCTGGCCGACCCCCCCCCGCGCCTCCCTCCCGGACGGGG
CGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC
AGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCTG
ATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCTGA
CCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCTG
ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA
CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC
CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC
CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGATCC
CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCC
CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502129
chr1:8502129 T
T
 TGCCCGGC
others(313): Show 
TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC
GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCAGCCCC
CCGCACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCC
CGCCTGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCC
GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCGGGCCAGCCGCCCCGTCC
GGGAGGGAGGCGCGGGGGGGGGGTCGGCCAGCCGCCCCGTCCGGGAGGGA
GGTGGGGGGGGTCAGCCCCCC
 1 a0001c0001t0001g0013
a0001c0001t0001g0013
 1 HG01192.hp2
HG01192.hp2
 intron_variant MODIFIER c.880-4601_880-4600i
others(322): Show 
c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC
CGGACGGGGCGGCTGGCCGACCCCCCCCCCGCGCCTCCCTCCCGGACGGG
GCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG
CAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCT
GATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCTG
ACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC
TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502129
chr1:8502129 T
T
 TGCCCGGC
others(312): Show 
TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC
GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCC
CGCACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCC
GCCTGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCG
CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCGGGCCAGCCGCCCCGTCCG
GGAGGGAGGCGCGGGGGGGGGGTCGGCCAGCCGCCCCGTCCGGGAGGGAG
GTGGGGGGGGTCAGCCCCCC
 1 a0001c0001t0003g0141
a0001c0001t0003g0141
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.880-4601_880-4600i
others(321): Show 
c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC
CGGACGGGGCGGCTGGCCGACCCCCCCCCCGCGCCTCCCTCCCGGACGGG
GCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG
CAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCT
GATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCTG
ACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCT
GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502129
chr1:8502129 T
T
 TGCCCGGC
others(586): Show 
TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC
GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCC
GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCG
CCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTGC
CCCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG
AGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGA
GGGAGGTGGGGGGGTCAGCCCCCCGCACGGCCAGCCGCCCCGTCCGGGAG
GGAGGTGGGGGGGGGTCAGCCCCCCGCACGGCCAGCCGCCCCGTCCGGGA
GGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCTGGGAG
GTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCT
CTGCCGGGCCAGCCGCCCCGTCCGGGAGGGAGGCGCGGGGGGGGGGTCGG
CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCC
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.880-4601_880-4600i
others(595): Show 
c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC
CGGACGGGGCGGCTGGCCGACCCCCCCCCCGCGCCTCCCTCCCGGACGGG
GCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG
CAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCT
GATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCTG
ACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCT
GACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTG
ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCC
TCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC
GGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACG
GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACG
GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG
GGCGGCTGGCCGGGC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502129
chr1:8502129 T
T
 TGCCGGGC
others(85): Show 
TGCCGGGCCAGCCGCCCCGTCCGGGAGGGAGGCGCGGGGGGGGGGTCGGC
CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCC
 4 a0001c0004t0006g0146
a0001c0004t0040g0199
a0001c0009t0041g0198
others(1): Show 
a0001c0004t0006g0146
a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
 4 HG02145.hp1
HG02970.hp2
HG06807.hp1
others(1): Show 
HG02145.hp1
HG02970.hp2
HG06807.hp1
NA19043.hp1
 intron_variant MODIFIER c.880-4601_880-4600i
others(94): Show 
c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC
CGGACGGGGCGGCTGGCCGACCCCCCCCCCGCGCCTCCCTCCCGGACGGG
GCGGCTGGCCCGGC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502129
chr1:8502129 T
T
 TGCCGGGC
others(84): Show 
TGCCGGGCCAGCCGCCCCGTCCGGGAGGGAGGCGCGGGGGGGGGTCGGCC
AGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCC
 1 a0001c0001t0001g0061
a0001c0001t0001g0061
 1 NA20300.hp1
NA20300.hp1
 intron_variant MODIFIER c.880-4601_880-4600i
others(93): Show 
c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC
CGGACGGGGCGGCTGGCCGACCCCCCCCCGCGCCTCCCTCCCGGACGGGG
CGGCTGGCCCGGC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502129
chr1:8502146 A
A
 C
C
 4 a0001c0003t0011g0108
a0001c0005t0019g0030
a0001c0015t0001g0009
others(1): Show 
a0001c0003t0011g0108
a0001c0005t0019g0030
a0001c0015t0001g0009
a0001c0016t0020g0001
 4 HG02896.hp1
HG03130.hp2
HG06807.hp2
others(1): Show 
HG02896.hp1
HG03130.hp2
HG06807.hp2
NA20129.hp2
 intron_variant MODIFIER c.880-4617T>G
c.880-4617T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502146
chr1:8502161 T
T
 TGGGGGGG
others(43): Show 
TGGGGGGGGCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGT
G
 1 a0001c0015t0001g0009
a0001c0015t0001g0009
 1 HG02896.hp1
HG02896.hp1
 intron_variant MODIFIER c.880-4633_880-4632i
others(52): Show 
c.880-4633_880-4632insCACCTCCCTCCCGGATGGGGCGGCTGGC
CGGGCGGGGGGCTGCCCCCCCC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502161
chr1:8502161 T
T
 TGGGGGGG
others(43): Show 
TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGT
G
 3 a0001c0003t0011g0108
a0001c0005t0019g0030
a0001c0016t0020g0001
a0001c0003t0011g0108
a0001c0005t0019g0030
a0001c0016t0020g0001
 3 HG03130.hp2
HG06807.hp2
NA20129.hp2
HG03130.hp2
HG06807.hp2
NA20129.hp2
 intron_variant MODIFIER c.880-4633_880-4632i
others(52): Show 
c.880-4633_880-4632insCACCTCCCTCCCGGATGGGGCGGCTGGC
CGGGCGGGGGGCTGACCCCCCC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502161
chr1:8502164 T
T
 G
G
 4 a0001c0003t0011g0108
a0001c0005t0019g0030
a0001c0015t0001g0009
others(1): Show 
a0001c0003t0011g0108
a0001c0005t0019g0030
a0001c0015t0001g0009
a0001c0016t0020g0001
 4 HG02896.hp1
HG03130.hp2
HG06807.hp2
others(1): Show 
HG02896.hp1
HG03130.hp2
HG06807.hp2
NA20129.hp2
 intron_variant MODIFIER c.880-4635A>C
c.880-4635A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502164
chr1:8502168 T
T
 G
G
 4 a0001c0003t0011g0108
a0001c0005t0019g0030
a0001c0015t0001g0009
others(1): Show 
a0001c0003t0011g0108
a0001c0005t0019g0030
a0001c0015t0001g0009
a0001c0016t0020g0001
 4 HG02896.hp1
HG03130.hp2
HG06807.hp2
others(1): Show 
HG02896.hp1
HG03130.hp2
HG06807.hp2
NA20129.hp2
 intron_variant MODIFIER c.880-4639A>C
c.880-4639A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502168
chr1:8502178 A
A
 G
G
 4 a0001c0003t0011g0108
a0001c0005t0019g0030
a0001c0015t0001g0009
others(1): Show 
a0001c0003t0011g0108
a0001c0005t0019g0030
a0001c0015t0001g0009
a0001c0016t0020g0001
 4 HG02896.hp1
HG03130.hp2
HG06807.hp2
others(1): Show 
HG02896.hp1
HG03130.hp2
HG06807.hp2
NA20129.hp2
 intron_variant MODIFIER c.880-4649T>C
c.880-4649T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502178
chr1:8502192 C
C
 T
T
 2 a0001c0001t0001g0043
a0001c0001t0001g0066
a0001c0001t0001g0043
a0001c0001t0001g0066
 2 HG02027.hp1
HG02074.hp2
HG02027.hp1
HG02074.hp2
 intron_variant MODIFIER c.880-4663G>A
c.880-4663G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502192
chr1:8502239 A
A
 G
G
 2 a0001c0001t0036g0194
a0001c0015t0001g0009
a0001c0001t0036g0194
a0001c0015t0001g0009
 2 HG02896.hp1
NA18985.hp2
HG02896.hp1
NA18985.hp2
 intron_variant MODIFIER c.880-4710T>C
c.880-4710T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502239
chr1:8502275 C
C
 T
T
 1 a0001c0015t0001g0009
a0001c0015t0001g0009
 1 HG02896.hp1
HG02896.hp1
 intron_variant MODIFIER c.880-4746G>A
c.880-4746G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502275
chr1:8502308 T
T
 C
C
 1 a0001c0015t0001g0009
a0001c0015t0001g0009
 1 HG02896.hp1
HG02896.hp1
 intron_variant MODIFIER c.880-4779A>G
c.880-4779A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502308
chr1:8502312 G
G
 C
C
 1 a0001c0015t0001g0009
a0001c0015t0001g0009
 1 HG02896.hp1
HG02896.hp1
 intron_variant MODIFIER c.880-4783C>G
c.880-4783C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502312
chr1:8502317 G
G
 A
A
 1 a0001c0001t0037g0196
a0001c0001t0037g0196
 1 HG01517.hp2
HG01517.hp2
 intron_variant MODIFIER c.880-4788C>T
c.880-4788C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502317
chr1:8502333 T
T
 A
A
 1 a0001c0015t0001g0009
a0001c0015t0001g0009
 1 HG02896.hp1
HG02896.hp1
 intron_variant MODIFIER c.880-4804A>T
c.880-4804A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502333
chr1:8502336 TG
TG
 T
T
 7 a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
others(4): Show 
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0006c0025t0007g0025
 7 HG02280.hp1
HG02451.hp2
HG02647.hp2
others(4): Show 
HG02280.hp1
HG02451.hp2
HG02647.hp2
HG02723.hp2
HG02809.hp2
HG02965.hp1
HG03540.hp2
 intron_variant MODIFIER c.880-4808delC
c.880-4808delC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502336
chr1:8502365 C
C
 T
T
 1 a0001c0004t0010g0142
a0001c0004t0010g0142
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.880-4836G>A
c.880-4836G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502365
chr1:8502370 T
T
 C
C
 1 a0001c0015t0001g0009
a0001c0015t0001g0009
 1 HG02896.hp1
HG02896.hp1
 intron_variant MODIFIER c.880-4841A>G
c.880-4841A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502370
chr1:8502371 A
A
 ATCCGGGA
others(410): Show 
ATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCACGGCCAGCCGCCCCG
TCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCGCACGGCCAGCCGCCCC
GTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCG
TCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG
GAGCCCCTCTGCCGGGCCAGCCGCCCCGTCCGGGAGGGAGGCGCGGGGGG
GGGGGTCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCC
CCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGTGGTGGGTCAGCCCCC
CACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCC
GCCTGGCCAGCCACCCCG
 1 a0001c0015t0001g0009
a0001c0015t0001g0009
 1 HG02896.hp1
HG02896.hp1
 intron_variant MODIFIER c.880-4843_880-4842i
others(419): Show 
c.880-4843_880-4842insCGGGGTGGCTGGCCAGGCGGGGGGCTGA
TCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGAC
CCACCACCTCCCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGACCC
CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGACCCCCCCCCCCGCGC
CTCCCTCCCGGACGGGGCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCC
AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCT
GGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTG
GCCGTGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCT
GGCCGTGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502371
chr1:8502375 A
A
 G
G
 1 a0001c0015t0001g0009
a0001c0015t0001g0009
 1 HG02896.hp1
HG02896.hp1
 intron_variant MODIFIER c.880-4846T>C
c.880-4846T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502375
chr1:8502402 C
C
 T
T
 2 a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0002t0018g0002
a0001c0004t0010g0142
 2 HG02559.hp1
HG03579.hp2
HG02559.hp1
HG03579.hp2
 intron_variant MODIFIER c.880-4873G>A
c.880-4873G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502402
chr1:8502417 G
G
 C
C
 3 a0001c0001t0001g0067
a0001c0001t0003g0124
a0001c0002t0013g0053
a0001c0001t0001g0067
a0001c0001t0003g0124
a0001c0002t0013g0053
 3 HG03491.hp2
HG03831.hp2
NA20905.hp1
HG03491.hp2
HG03831.hp2
NA20905.hp1
 intron_variant MODIFIER c.880-4888C>G
c.880-4888C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502417
chr1:8502432 G
G
 GCCGGGCC
others(133): Show 
GCCGGGCCAGCCGCCCCGTCCGGGAGGGAGGCGCGGGGGGGGGGTCGGCC
AGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCC
AGCCGCCCAGTCCGGGAGGGAGGTGGTGGGTCAGCCCCCCA
 1 a0001c0001t0003g0102
a0001c0001t0003g0102
 1 HG03688.hp2
HG03688.hp2
 intron_variant MODIFIER c.880-4904_880-4903i
others(142): Show 
c.880-4904_880-4903insTGGGGGGCTGACCCACCACCTCCCTCCC
GGACTGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCC
GGACGGGGCGGCTGGCCGACCCCCCCCCCGCGCCTCCCTCCCGGACGGGG
CGGCTGGCCCGG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502432
chr1:8502433 C
C
 A
A
 2 a0001c0003t0004g0011
a0001c0003t0004g0019
a0001c0003t0004g0011
a0001c0003t0004g0019
 2 NA18946.hp1
NA18973.hp1
NA18946.hp1
NA18973.hp1
 intron_variant MODIFIER c.880-4904G>T
c.880-4904G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502433
chr1:8502435 T
T
 C
C
 1 a0001c0001t0003g0102
a0001c0001t0003g0102
 1 HG03688.hp2
HG03688.hp2
 intron_variant MODIFIER c.880-4906A>G
c.880-4906A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502435
chr1:8502444 G
G
 A
A
 4 a0001c0004t0010g0107
a0001c0004t0014g0126
a0001c0004t0027g0106
others(1): Show 
a0001c0004t0010g0107
a0001c0004t0014g0126
a0001c0004t0027g0106
a0001c0005t0026g0127
 4 HG02886.hp2
HG02965.hp2
HG03453.hp2
others(1): Show 
HG02886.hp2
HG02965.hp2
HG03453.hp2
NA21309.hp1
 intron_variant MODIFIER c.880-4915C>T
c.880-4915C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502444
chr1:8502452 C
C
 T
T
 1 a0001c0001t0003g0141
a0001c0001t0003g0141
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.880-4923G>A
c.880-4923G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502452
chr1:8502470 GT
GT
 G
G
 12 a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
others(9): Show 
a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0004t0022g0121
a0009c0021t0003g0135
 12 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(9): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03225.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.880-4942delA
c.880-4942delA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502470
chr1:8502509 C
C
 G
G
 164 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(161): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 164 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(161): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.880-4980G>C
c.880-4980G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502509
chr1:8502525 C
C
 T
T
 1 a0001c0004t0010g0120
a0001c0004t0010g0120
 1 HG01167.hp1
HG01167.hp1
 intron_variant MODIFIER c.880-4996G>A
c.880-4996G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502525
chr1:8502526 G
G
 A
A
 3 a0001c0001t0006g0170
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0001t0006g0170
a0001c0004t0010g0107
a0001c0004t0027g0106
 3 HG02698.hp2
HG02886.hp2
HG03453.hp2
HG02698.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.880-4997C>T
c.880-4997C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502526
chr1:8502601 T
T
 C
C
 2 a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0002t0018g0002
a0001c0004t0010g0142
 2 HG02559.hp1
HG03579.hp2
HG02559.hp1
HG03579.hp2
 intron_variant MODIFIER c.880-5072A>G
c.880-5072A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502601
chr1:8502644 A
A
 G
G
 1 a0001c0004t0003g0109
a0001c0004t0003g0109
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.880-5115T>C
c.880-5115T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502644
chr1:8502689 G
G
 C
C
 1 a0001c0003t0015g0147
a0001c0003t0015g0147
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.880-5160C>G
c.880-5160C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502689
chr1:8502833 T
T
 G
G
 2 a0001c0004t0014g0126
a0001c0005t0026g0127
a0001c0004t0014g0126
a0001c0005t0026g0127
 2 HG02965.hp2
NA21309.hp1
HG02965.hp2
NA21309.hp1
 intron_variant MODIFIER c.880-5304A>C
c.880-5304A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502833
chr1:8502847 G
G
 A
A
 1 a0003c0008t0001g0031
a0003c0008t0001g0031
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.880-5318C>T
c.880-5318C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502847
chr1:8502891 G
G
 A
A
 2 a0004c0012t0008g0137
a0004c0012t0008g0138
a0004c0012t0008g0137
a0004c0012t0008g0138
 2 HG02976.hp2
HG03195.hp1
HG02976.hp2
HG03195.hp1
 intron_variant MODIFIER c.880-5362C>T
c.880-5362C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502891
chr1:8502891 G
G
 C
C
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.880-5362C>G
c.880-5362C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502891
chr1:8502897 G
G
 C
C
 2 a0004c0012t0008g0137
a0004c0012t0008g0138
a0004c0012t0008g0137
a0004c0012t0008g0138
 2 HG02976.hp2
HG03195.hp1
HG02976.hp2
HG03195.hp1
 intron_variant MODIFIER c.880-5368C>G
c.880-5368C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502897
chr1:8502959 G
G
 A
A
 2 a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0002t0018g0002
a0001c0004t0010g0142
 2 HG02559.hp1
HG03579.hp2
HG02559.hp1
HG03579.hp2
 intron_variant MODIFIER c.880-5430C>T
c.880-5430C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502959
chr1:8502996 T
T
 A
A
 1 a0001c0005t0026g0127
a0001c0005t0026g0127
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.880-5467A>T
c.880-5467A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8502996
chr1:8503060 C
C
 T
T
 1 a0001c0009t0041g0198
a0001c0009t0041g0198
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.880-5531G>A
c.880-5531G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8503060
chr1:8503084 TTAAA
TTAAA
 T
T
 5 a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0040g0199
others(2): Show 
a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
 5 HG02145.hp1
HG02559.hp1
HG02970.hp2
others(2): Show 
HG02145.hp1
HG02559.hp1
HG02970.hp2
HG03579.hp2
HG06807.hp1
 intron_variant MODIFIER c.879+5539_879+5542d
others(6): Show 
c.879+5539_879+5542delTTTA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8503084
chr1:8503085 T
T
 A
A
 5 a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
others(2): Show 
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
 5 HG02109.hp1
HG02257.hp2
HG02818.hp1
others(2): Show 
HG02109.hp1
HG02257.hp2
HG02818.hp1
HG03209.hp1
HG03516.hp1
 intron_variant MODIFIER c.879+5542A>T
c.879+5542A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8503085
chr1:8503087 A
A
 AAAAT
AAAAT
 32 a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0038
others(29): Show 
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0043
a0001c0001t0001g0048
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0076
a0001c0001t0003g0088
a0001c0002t0005g0114
a0001c0002t0005g0134
a0001c0002t0006g0145
a0001c0003t0004g0068
a0001c0003t0011g0096
a0001c0003t0012g0022
a0001c0004t0003g0109
a0001c0004t0005g0123
a0001c0004t0010g0120
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0004g0044
a0002c0006t0003g0139
a0005c0013t0029g0111
 32 HG01167.hp1
HG01167.hp2
HG01169.hp2
others(29): Show 
HG01167.hp1
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01361.hp2
HG01496.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02258.hp1
HG02258.hp2
HG02523.hp1
HG02602.hp2
HG02818.hp2
HG03041.hp1
HG03209.hp1
HG03491.hp1
HG04199.hp2
NA18964.hp2
NA18983.hp1
NA19000.hp1
NA19000.hp2
NA19009.hp1
NA19043.hp2
NA19085.hp2
NA19090.hp1
NA20300.hp1
NA21309.hp2
 intron_variant MODIFIER c.879+5536_879+5539d
others(6): Show 
c.879+5536_879+5539dupATTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8503087
chr1:8503087 A
A
 AAAATAAA
others(1): Show 
AAAATAAAT
 4 a0001c0001t0001g0045
a0001c0001t0001g0062
a0001c0001t0001g0064
others(1): Show 
a0001c0001t0001g0045
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0007t0003g0099
 4 HG00597.hp2
HG01496.hp2
NA19002.hp1
others(1): Show 
HG00597.hp2
HG01496.hp2
NA19002.hp1
NA20752.hp2
 intron_variant MODIFIER c.879+5532_879+5539d
others(10): Show 
c.879+5532_879+5539dupATTTATTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8503087
chr1:8503087 AAAAT
AAAAT
 A
A
 62 a0001c0001t0001g0033
a0001c0001t0001g0074
a0001c0001t0003g0115
others(59): Show 
a0001c0001t0001g0033
a0001c0001t0001g0074
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0153
a0001c0001t0023g0113
a0001c0001t0031g0144
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0010
a0001c0003t0004g0012
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0078
a0001c0004t0001g0049
a0001c0014t0002g0191
a0001c0019t0014g0119
a0001c0023t0002g0175
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0024g0081
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0006c0025t0007g0025
a0010c0027t0003g0086
 62 HG00544.hp1
HG00544.hp2
HG00597.hp1
others(59): Show 
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01255.hp2
HG01261.hp2
HG01358.hp1
HG01361.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp2
HG01934.hp2
HG01981.hp2
HG02027.hp2
HG02080.hp2
HG02129.hp1
HG02132.hp1
HG02132.hp2
HG02165.hp1
HG02293.hp2
HG02451.hp1
HG02523.hp2
HG02559.hp2
HG02602.hp1
HG02647.hp1
HG02698.hp1
HG02735.hp1
HG02809.hp2
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03516.hp2
HG03540.hp1
HG03654.hp1
HG04184.hp1
HG04199.hp1
HG04228.hp1
NA18939.hp2
NA18946.hp2
NA18967.hp2
NA18973.hp2
NA18985.hp1
NA18993.hp2
NA19002.hp2
NA19005.hp2
NA19009.hp2
NA19070.hp1
NA19074.hp2
NA20752.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.879+5536_879+5539d
others(6): Show 
c.879+5536_879+5539delATTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8503087
chr1:8503087 AAAATAAA
others(9): Show 
AAAATAAATAAATAAAT
 A
A
 1 a0001c0001t0038g0195
a0001c0001t0038g0195
 1 HG01515.hp1
HG01515.hp1
 intron_variant MODIFIER c.879+5524_879+5539d
others(18): Show 
c.879+5524_879+5539delATTTATTTATTTATTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8503087
chr1:8503090 AT
AT
 A
A
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.879+5536delA
c.879+5536delA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8503090
chr1:8503091 T
T
 A
A
 5 a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0040g0199
others(2): Show 
a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
 5 HG02145.hp1
HG02559.hp1
HG02970.hp2
others(2): Show 
HG02145.hp1
HG02559.hp1
HG02970.hp2
HG03579.hp2
HG06807.hp1
 intron_variant MODIFIER c.879+5536A>T
c.879+5536A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8503091
chr1:8503095 T
T
 A
A
 7 a0001c0002t0002g0157
a0001c0002t0018g0002
a0001c0002t0032g0155
others(4): Show 
a0001c0002t0002g0157
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0005t0026g0127
a0001c0005t0034g0156
 7 HG02559.hp1
HG02622.hp1
HG02965.hp2
others(4): Show 
HG02559.hp1
HG02622.hp1
HG02965.hp2
HG03130.hp1
HG03579.hp1
HG03579.hp2
NA21309.hp1
 intron_variant MODIFIER c.879+5532A>T
c.879+5532A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8503095
chr1:8503098 A
A
 T
T
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.879+5529T>A
c.879+5529T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8503098
chr1:8503099 T
T
 A
A
 4 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0142
others(1): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0142
a0001c0005t0034g0156
 4 HG02622.hp1
HG03130.hp1
HG03579.hp1
others(1): Show 
HG02622.hp1
HG03130.hp1
HG03579.hp1
HG03579.hp2
 intron_variant MODIFIER c.879+5528A>T
c.879+5528A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8503099
chr1:8503228 G
G
 C
C
 1 a0001c0003t0008g0105
a0001c0003t0008g0105
 1 HG00741.hp2
HG00741.hp2
 intron_variant MODIFIER c.879+5399C>G
c.879+5399C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8503228
chr1:8503522 CA
CA
 C
C
 8 a0001c0001t0001g0015
a0001c0001t0001g0056
a0001c0001t0001g0057
others(5): Show 
a0001c0001t0001g0015
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0063
 8 HG00140.hp2
HG00280.hp1
HG01167.hp2
others(5): Show 
HG00140.hp2
HG00280.hp1
HG01167.hp2
HG01169.hp2
HG01261.hp1
HG01496.hp2
HG02258.hp1
HG02486.hp2
 intron_variant MODIFIER c.879+5104delT
c.879+5104delT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8503522
chr1:8503603 C
C
 T
T
 150 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(147): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0125
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0010c0027t0003g0086
 150 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(147): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.879+5024G>A
c.879+5024G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8503603
chr1:8503715 C
C
 T
T
 1 a0001c0001t0001g0039
a0001c0001t0001g0039
 1 HG02004.hp2
HG02004.hp2
 intron_variant MODIFIER c.879+4912G>A
c.879+4912G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8503715
chr1:8503945 T
T
 C
C
 1 a0002c0006t0003g0089
a0002c0006t0003g0089
 1 HG02132.hp1
HG02132.hp1
 intron_variant MODIFIER c.879+4682A>G
c.879+4682A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8503945
chr1:8503970 G
G
 T
T
 1 a0001c0010t0007g0034
a0001c0010t0007g0034
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.879+4657C>A
c.879+4657C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8503970
chr1:8504145 A
A
 G
G
 1 a0001c0002t0002g0177
a0001c0002t0002g0177
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.879+4482T>C
c.879+4482T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8504145
chr1:8504241 C
C
 G
G
 106 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(103): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0002g0157
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0004t0010g0107
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0006c0025t0007g0025
a0007c0020t0039g0197
 106 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(103): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.879+4386G>C
c.879+4386G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8504241
chr1:8504397 C
C
 T
T
 5 a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
others(2): Show 
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
 5 HG02109.hp1
HG02257.hp2
HG02818.hp1
others(2): Show 
HG02109.hp1
HG02257.hp2
HG02818.hp1
HG03209.hp1
HG03516.hp1
 intron_variant MODIFIER c.879+4230G>A
c.879+4230G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8504397
chr1:8504580 G
G
 C
C
 1 a0004c0012t0008g0137
a0004c0012t0008g0137
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.879+4047C>G
c.879+4047C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8504580
chr1:8504869 T
T
 C
C
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.879+3758A>G
c.879+3758A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8504869
chr1:8504884 A
A
 G
G
 1 a0007c0020t0039g0197
a0007c0020t0039g0197
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.879+3743T>C
c.879+3743T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8504884
chr1:8504987 G
G
 A
A
 1 a0001c0004t0010g0107
a0001c0004t0010g0107
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.879+3640C>T
c.879+3640C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8504987
chr1:8505229 G
G
 A
A
 4 a0001c0002t0005g0110
a0001c0004t0003g0109
a0005c0013t0021g0023
others(1): Show 
a0001c0002t0005g0110
a0001c0004t0003g0109
a0005c0013t0021g0023
a0005c0013t0029g0111
 4 HG02723.hp1
HG03041.hp1
HG03471.hp1
others(1): Show 
HG02723.hp1
HG03041.hp1
HG03471.hp1
NA21309.hp2
 intron_variant MODIFIER c.879+3398C>T
c.879+3398C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8505229
chr1:8505361 G
G
 A
A
 3 a0001c0004t0005g0123
a0002c0006t0003g0139
a0002c0026t0008g0140
a0001c0004t0005g0123
a0002c0006t0003g0139
a0002c0026t0008g0140
 3 HG01361.hp2
HG01981.hp1
HG02602.hp2
HG01361.hp2
HG01981.hp1
HG02602.hp2
 intron_variant MODIFIER c.879+3266C>T
c.879+3266C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8505361
chr1:8505514 A
A
 G
G
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.879+3113T>C
c.879+3113T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8505514
chr1:8505715 G
G
 C
C
 1 a0002c0026t0008g0140
a0002c0026t0008g0140
 1 HG01981.hp1
HG01981.hp1
 intron_variant MODIFIER c.879+2912C>G
c.879+2912C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8505715
chr1:8505810 C
C
 A
A
 1 a0001c0009t0041g0198
a0001c0009t0041g0198
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.879+2817G>T
c.879+2817G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8505810
chr1:8505814 A
A
 G
G
 1 a0001c0002t0032g0155
a0001c0002t0032g0155
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.879+2813T>C
c.879+2813T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8505814
chr1:8506196 T
T
 C
C
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.879+2431A>G
c.879+2431A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8506196
chr1:8506198 A
A
 C
C
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.879+2429T>G
c.879+2429T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8506198
chr1:8506200 GTTGAGTA
GTTGAGTA
 G
G
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.879+2420_879+2426d
others(9): Show 
c.879+2420_879+2426delTACTCAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8506200
chr1:8506228 T
T
 C
C
 2 a0005c0013t0021g0023
a0005c0013t0029g0111
a0005c0013t0021g0023
a0005c0013t0029g0111
 2 HG03041.hp1
HG03471.hp1
HG03041.hp1
HG03471.hp1
 intron_variant MODIFIER c.879+2399A>G
c.879+2399A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8506228
chr1:8506241 T
T
 C
C
 162 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(159): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 162 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(159): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.879+2386A>G
c.879+2386A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8506241
chr1:8506685 G
G
 A
A
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.879+1942C>T
c.879+1942C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8506685
chr1:8506686 A
A
 G
G
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.879+1941T>C
c.879+1941T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8506686
chr1:8506748 C
C
 T
T
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.879+1879G>A
c.879+1879G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8506748
chr1:8506850 A
A
 C
C
 16 a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
others(13): Show 
a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0005t0026g0127
a0009c0021t0003g0135
 16 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(13): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02559.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02965.hp2
HG03225.hp1
HG03471.hp2
HG03579.hp2
NA18906.hp2
NA21309.hp1
 intron_variant MODIFIER c.879+1777T>G
c.879+1777T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8506850
chr1:8507144 A
A
 G
G
 16 a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
others(13): Show 
a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0005t0026g0127
a0009c0021t0003g0135
 16 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(13): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02559.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02965.hp2
HG03225.hp1
HG03471.hp2
HG03579.hp2
NA18906.hp2
NA21309.hp1
 intron_variant MODIFIER c.879+1483T>C
c.879+1483T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8507144
chr1:8507224 C
C
 T
T
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.879+1403G>A
c.879+1403G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8507224
chr1:8507233 G
G
 A
A
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.879+1394C>T
c.879+1394C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8507233
chr1:8507312 G
G
 A
A
 1 a0001c0002t0002g0177
a0001c0002t0002g0177
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.879+1315C>T
c.879+1315C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8507312
chr1:8507347 C
C
 T
T
 1 a0001c0002t0002g0192
a0001c0002t0002g0192
 1 HG01175.hp1
HG01175.hp1
 intron_variant MODIFIER c.879+1280G>A
c.879+1280G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8507347
chr1:8507348 G
G
 C
C
 1 a0001c0003t0004g0017
a0001c0003t0004g0017
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.879+1279C>G
c.879+1279C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8507348
chr1:8507439 G
G
 T
T
 26 a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
others(23): Show 
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0005g0123
a0001c0007t0001g0008
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0015t0001g0009
a0002c0006t0003g0139
a0002c0026t0008g0140
 26 HG00140.hp1
HG00544.hp2
HG00639.hp2
others(23): Show 
HG00140.hp1
HG00544.hp2
HG00639.hp2
HG00741.hp2
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG01358.hp2
HG01361.hp2
HG01981.hp1
HG02258.hp2
HG02280.hp2
HG02602.hp2
HG02622.hp2
HG02698.hp1
HG02896.hp1
HG03654.hp2
HG03831.hp1
HG04115.hp2
NA18939.hp1
NA18946.hp1
NA18973.hp1
NA18993.hp1
NA19009.hp2
NA19043.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.879+1188C>A
c.879+1188C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8507439
chr1:8507446 C
C
 T
T
 1 a0001c0002t0005g0114
a0001c0002t0005g0114
 1 HG02004.hp1
HG02004.hp1
 intron_variant MODIFIER c.879+1181G>A
c.879+1181G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8507446
chr1:8507554 G
G
 A
A
 1 a0001c0004t0014g0126
a0001c0004t0014g0126
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.879+1073C>T
c.879+1073C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8507554
chr1:8507651 C
C
 T
T
 2 a0001c0022t0008g0082
a0008c0017t0003g0101
a0001c0022t0008g0082
a0008c0017t0003g0101
 2 HG00280.hp2
NA20905.hp2
HG00280.hp2
NA20905.hp2
 intron_variant MODIFIER c.879+976G>A
c.879+976G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8507651
chr1:8507737 C
C
 CTTTTTT
CTTTTTT
 66 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(63): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0038
a0001c0001t0001g0046
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0093
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0079
a0001c0004t0010g0120
a0001c0005t0019g0030
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0028
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0006c0025t0007g0025
 66 HG00140.hp2
HG00280.hp1
HG00544.hp2
others(63): Show 
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp2
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02027.hp1
HG02080.hp1
HG02129.hp2
HG02145.hp2
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02622.hp2
HG02647.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02735.hp2
HG02809.hp2
HG02965.hp1
HG02976.hp1
HG03130.hp2
HG03195.hp2
HG03453.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18939.hp1
NA18944.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19090.hp1
NA20129.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.879+884_879+889dup
others(6): Show 
c.879+884_879+889dupAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8507737
chr1:8507737 C
C
 CTTTTTTT
CTTTTTTT
 71 a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0045
others(68): Show 
a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0061
a0001c0001t0001g0073
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0181
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0003t0004g0011
a0001c0003t0004g0021
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0004t0003g0109
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0005t0026g0127
a0001c0007t0003g0084
a0001c0007t0003g0099
a0001c0009t0004g0016
a0001c0011t0007g0027
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0008c0017t0003g0101
a0010c0027t0003g0086
 71 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(68): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00741.hp2
HG01192.hp1
HG01255.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG02004.hp1
HG02074.hp1
HG02074.hp2
HG02109.hp2
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02280.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02647.hp1
HG02683.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03491.hp1
HG03579.hp2
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp2
NA18946.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18993.hp2
NA19002.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.879+883_879+889dup
others(7): Show 
c.879+883_879+889dupAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8507737
chr1:8507737 C
C
 CTTTTTTT
others(1): Show 
CTTTTTTTT
 14 a0001c0001t0016g0054
a0001c0002t0005g0131
a0001c0003t0004g0017
others(11): Show 
a0001c0001t0016g0054
a0001c0002t0005g0131
a0001c0003t0004g0017
a0001c0003t0008g0085
a0001c0003t0017g0032
a0001c0004t0010g0107
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0204
a0001c0007t0001g0008
a0001c0007t0003g0098
a0002c0006t0003g0091
a0007c0020t0039g0197
a0009c0021t0003g0135
 14 HG00140.hp1
HG01175.hp2
HG01934.hp1
others(11): Show 
HG00140.hp1
HG01175.hp2
HG01934.hp1
HG02293.hp1
HG02818.hp1
HG02970.hp2
HG03453.hp2
HG03471.hp2
HG03516.hp1
HG03831.hp1
HG04115.hp2
HG06807.hp1
NA19000.hp1
NA19002.hp2
 intron_variant MODIFIER c.879+882_879+889dup
others(8): Show 
c.879+882_879+889dupAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8507737
chr1:8507737 C
C
 CTTTTTTT
others(3): Show 
CTTTTTTTTTT
 2 a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0201
a0001c0005t0009g0202
 2 HG02109.hp1
HG02257.hp2
HG02109.hp1
HG02257.hp2
 intron_variant MODIFIER c.879+880_879+889dup
others(10): Show 
c.879+880_879+889dupAAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8507737
chr1:8507737 C
C
 CTTTTTTT
others(5): Show 
CTTTTTTTTTTTT
 2 a0001c0002t0002g0152
a0001c0002t0002g0162
a0001c0002t0002g0152
a0001c0002t0002g0162
 2 HG02559.hp2
HG03540.hp1
HG02559.hp2
HG03540.hp1
 intron_variant MODIFIER c.879+878_879+889dup
others(12): Show 
c.879+878_879+889dupAAAAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8507737
chr1:8507737 C
C
 CTTTTTTT
others(6): Show 
CTTTTTTTTTTTTT
 2 a0001c0002t0002g0177
a0001c0002t0002g0179
a0001c0002t0002g0177
a0001c0002t0002g0179
 2 HG03209.hp2
HG03516.hp2
HG03209.hp2
HG03516.hp2
 intron_variant MODIFIER c.879+877_879+889dup
others(13): Show 
c.879+877_879+889dupAAAAAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8507737
chr1:8507737 C
C
 CTTTTTTT
others(8): Show 
CTTTTTTTTTTTTTTT
 1 a0001c0001t0001g0033
a0001c0001t0001g0033
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.879+875_879+889dup
others(15): Show 
c.879+875_879+889dupAAAAAAAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8507737
chr1:8507737 C
C
 CTTTTTTT
others(9): Show 
CTTTTTTTTTTTTTTTT
 1 a0001c0002t0002g0163
a0001c0002t0002g0163
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.879+874_879+889dup
others(16): Show 
c.879+874_879+889dupAAAAAAAAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8507737
chr1:8507761 CAG
CAG
 C
C
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.879+864_879+865del
others(2): Show 
c.879+864_879+865delCT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8507761
chr1:8507798 G
G
 A
A
 1 a0001c0001t0001g0051
a0001c0001t0001g0051
 1 HG02129.hp2
HG02129.hp2
 intron_variant MODIFIER c.879+829C>T
c.879+829C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8507798
chr1:8507832 G
G
 A
A
 2 a0001c0001t0001g0060
a0001c0001t0001g0063
a0001c0001t0001g0060
a0001c0001t0001g0063
 2 HG00140.hp2
HG02486.hp2
HG00140.hp2
HG02486.hp2
 intron_variant MODIFIER c.879+795C>T
c.879+795C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8507832
chr1:8507939 A
A
 G
G
 2 a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0171
a0001c0002t0002g0172
 2 HG01515.hp2
HG01517.hp1
HG01515.hp2
HG01517.hp1
 intron_variant MODIFIER c.879+688T>C
c.879+688T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8507939
chr1:8508113 T
T
 C
C
 1 a0001c0001t0006g0170
a0001c0001t0006g0170
 1 HG02698.hp2
HG02698.hp2
 intron_variant MODIFIER c.879+514A>G
c.879+514A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8508113
chr1:8508369 T
T
 C
C
 1 a0001c0002t0002g0180
a0001c0002t0002g0180
 1 HG02080.hp2
HG02080.hp2
 intron_variant MODIFIER c.879+258A>G
c.879+258A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8508369
chr1:8508429 C
C
 T
T
 1 a0001c0002t0002g0173
a0001c0002t0002g0173
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.879+198G>A
c.879+198G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8508429
chr1:8508553 C
C
 T
T
 1 a0001c0001t0001g0074
a0001c0001t0001g0074
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.879+74G>A
c.879+74G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8508553
chr1:8508604 G
G
 A
A
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.879+23C>T
c.879+23C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8508604
chr1:8508607 G
G
 A
A
 2 a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0153
a0001c0001t0006g0154
 2 HG03225.hp2
NA20300.hp2
HG03225.hp2
NA20300.hp2
 intron_variant MODIFIER c.879+20C>T
c.879+20C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 8/22 chr1 8508607
chr1:8508754 A
A
 G
G
 12 a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
others(9): Show 
a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0004t0022g0121
a0009c0021t0003g0135
 12 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(9): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03225.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.831-79T>C
c.831-79T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8508754
chr1:8508983 C
C
 G
G
 1 a0002c0006t0003g0090
a0002c0006t0003g0090
 1 HG02165.hp1
HG02165.hp1
 intron_variant MODIFIER c.831-308G>C
c.831-308G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8508983
chr1:8509399 G
G
 GCCAT
GCCAT
 59 a0001c0001t0001g0037
a0001c0001t0001g0073
a0001c0001t0003g0087
others(56): Show 
a0001c0001t0001g0037
a0001c0001t0001g0073
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0102
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0005g0114
a0001c0002t0005g0125
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0134
a0001c0002t0006g0145
a0001c0002t0018g0002
a0001c0003t0004g0041
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0003t0012g0018
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0009c0021t0003g0135
a0010c0027t0003g0086
 59 HG00544.hp1
HG00597.hp1
HG01167.hp1
others(56): Show 
HG00544.hp1
HG00597.hp1
HG01167.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02280.hp1
HG02293.hp1
HG02451.hp2
HG02523.hp2
HG02559.hp1
HG02622.hp2
HG02647.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02818.hp2
HG02970.hp1
HG02976.hp2
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03453.hp1
HG03471.hp2
HG03491.hp1
HG03579.hp2
HG03669.hp1
HG03688.hp2
HG03831.hp1
HG04115.hp1
HG04228.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp1
NA19074.hp2
NA20129.hp1
NA20752.hp2
 intron_variant MODIFIER c.831-728_831-725dup
others(4): Show 
c.831-728_831-725dupATGG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8509399
chr1:8509399 G
G
 GCCATCCA
others(1): Show 
GCCATCCAT
 7 a0001c0001t0003g0104
a0001c0004t0010g0107
a0001c0004t0027g0106
others(4): Show 
a0001c0001t0003g0104
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0204
a0007c0020t0039g0197
 7 HG00609.hp1
HG02818.hp1
HG02886.hp2
others(4): Show 
HG00609.hp1
HG02818.hp1
HG02886.hp2
HG02970.hp2
HG03453.hp2
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.831-732_831-725dup
others(8): Show 
c.831-732_831-725dupATGGATGG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8509399
chr1:8509399 G
G
 GCCATCCA
others(5): Show 
GCCATCCATCCAT
 4 a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
others(1): Show 
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0009t0041g0198
 4 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(1): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG03209.hp1
 intron_variant MODIFIER c.831-736_831-725dup
others(12): Show 
c.831-736_831-725dupATGGATGGATGG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8509399
chr1:8509399 GCCAT
GCCAT
 G
G
 7 a0001c0001t0001g0033
a0001c0002t0002g0152
a0001c0002t0002g0163
others(4): Show 
a0001c0001t0001g0033
a0001c0002t0002g0152
a0001c0002t0002g0163
a0001c0002t0002g0190
a0001c0003t0012g0022
a0001c0004t0003g0109
a0001c0005t0034g0156
 7 HG01255.hp2
HG01884.hp2
HG02451.hp1
others(4): Show 
HG01255.hp2
HG01884.hp2
HG02451.hp1
HG02622.hp1
HG03540.hp1
NA19043.hp2
NA21309.hp2
 intron_variant MODIFIER c.831-728_831-725del
others(4): Show 
c.831-728_831-725delATGG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8509399
chr1:8509399 GCCATCCA
others(1): Show 
GCCATCCAT
 G
G
 3 a0001c0002t0002g0164
a0001c0002t0032g0155
a0001c0005t0026g0127
a0001c0002t0002g0164
a0001c0002t0032g0155
a0001c0005t0026g0127
 3 HG02129.hp1
HG03579.hp1
NA21309.hp1
HG02129.hp1
HG03579.hp1
NA21309.hp1
 intron_variant MODIFIER c.831-732_831-725del
others(8): Show 
c.831-732_831-725delATGGATGG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8509399
chr1:8509414 ATCCATCC
others(17): Show 
ATCCATCCATCCATCCATCCATCCG
 A
A
 43 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(40): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0013g0053
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0018t0001g0005
 43 HG00140.hp2
HG00280.hp1
HG00597.hp2
others(40): Show 
HG00140.hp2
HG00280.hp1
HG00597.hp2
HG00609.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01261.hp1
HG01433.hp1
HG01496.hp2
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02486.hp2
HG02523.hp1
HG02683.hp1
HG02698.hp2
HG03491.hp2
HG03688.hp1
HG03831.hp2
HG04184.hp2
HG04199.hp2
NA18944.hp1
NA18964.hp2
NA18967.hp1
NA18983.hp2
NA18985.hp2
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.831-763_831-740del
others(24): Show 
c.831-763_831-740delCGGATGGATGGATGGATGGATGGA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8509414
chr1:8509426 A
A
 G
G
 1 a0001c0004t0014g0126
a0001c0004t0014g0126
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.831-751T>C
c.831-751T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8509426
chr1:8509430 A
A
 G
G
 1 a0001c0004t0014g0126
a0001c0004t0014g0126
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.831-755T>C
c.831-755T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8509430
chr1:8509434 A
A
 ATCCG
ATCCG
 11 a0001c0001t0001g0033
a0001c0002t0002g0152
a0001c0002t0002g0157
others(8): Show 
a0001c0001t0001g0033
a0001c0002t0002g0152
a0001c0002t0002g0157
a0001c0002t0002g0163
a0001c0002t0002g0190
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0132
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0005t0034g0156
 11 HG01255.hp2
HG01884.hp1
HG01884.hp2
others(8): Show 
HG01255.hp2
HG01884.hp1
HG01884.hp2
HG02109.hp2
HG02451.hp1
HG02622.hp1
HG02886.hp1
HG03130.hp1
HG03225.hp1
HG03540.hp1
NA18906.hp2
 intron_variant MODIFIER c.831-763_831-760dup
others(4): Show 
c.831-763_831-760dupCGGA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8509434
chr1:8509434 A
A
 ATCCGTCC
others(1): Show 
ATCCGTCCG
 2 a0001c0002t0002g0164
a0001c0002t0032g0155
a0001c0002t0002g0164
a0001c0002t0032g0155
 2 HG02129.hp1
HG03579.hp1
HG02129.hp1
HG03579.hp1
 intron_variant MODIFIER c.831-767_831-760dup
others(8): Show 
c.831-767_831-760dupCGGACGGA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8509434
chr1:8509434 A
A
 ATCCGTCC
others(9): Show 
ATCCGTCCGTCCGTCCG
 1 a0001c0005t0026g0127
a0001c0005t0026g0127
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.831-775_831-760dup
others(16): Show 
c.831-775_831-760dupCGGACGGACGGACGGA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8509434
chr1:8509434 A
A
 G
G
 1 a0001c0004t0014g0126
a0001c0004t0014g0126
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.831-759T>C
c.831-759T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8509434
chr1:8509434 ATCCG
ATCCG
 A
A
 89 a0001c0001t0001g0037
a0001c0001t0001g0073
a0001c0001t0003g0087
others(86): Show 
a0001c0001t0001g0037
a0001c0001t0001g0073
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0125
a0001c0002t0006g0145
a0001c0002t0018g0002
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0142
a0001c0004t0025g0080
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0006c0025t0007g0025
a0008c0017t0003g0101
a0010c0027t0003g0086
 89 HG00140.hp1
HG00280.hp2
HG00544.hp1
others(86): Show 
HG00140.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00609.hp1
HG00639.hp2
HG00741.hp2
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03491.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp2
HG03831.hp1
HG04115.hp1
HG04115.hp2
HG04228.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19009.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.831-763_831-760del
others(4): Show 
c.831-763_831-760delCGGA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8509434
chr1:8509434 ATCCGTCC
others(1): Show 
ATCCGTCCG
 A
A
 10 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0040g0199
others(7): Show 
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 10 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(7): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02886.hp2
HG02970.hp2
HG03209.hp1
HG03453.hp2
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.831-767_831-760del
others(8): Show 
c.831-767_831-760delCGGACGGA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8509434
chr1:8509450 G
G
 A
A
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.831-775C>T
c.831-775C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8509450
chr1:8509618 G
G
 A
A
 1 a0010c0027t0003g0086
a0010c0027t0003g0086
 1 NA18985.hp1
NA18985.hp1
 intron_variant MODIFIER c.831-943C>T
c.831-943C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8509618
chr1:8509749 G
G
 A
A
 2 a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0153
a0001c0001t0006g0154
 2 HG03225.hp2
NA20300.hp2
HG03225.hp2
NA20300.hp2
 intron_variant MODIFIER c.831-1074C>T
c.831-1074C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8509749
chr1:8509812 A
A
 T
T
 89 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(86): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0006c0025t0007g0025
 89 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(86): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03453.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.831-1137T>A
c.831-1137T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8509812
chr1:8509847 C
C
 T
T
 89 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(86): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0006c0025t0007g0025
 89 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(86): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03453.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.831-1172G>A
c.831-1172G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8509847
chr1:8510389 G
G
 A
A
 1 a0001c0005t0009g0202
a0001c0005t0009g0202
 1 HG02109.hp1
HG02109.hp1
 intron_variant MODIFIER c.831-1714C>T
c.831-1714C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8510389
chr1:8510397 C
C
 G
G
 48 a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0038
others(45): Show 
a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0018t0001g0005
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
 48 HG00140.hp2
HG00280.hp1
HG00597.hp2
others(45): Show 
HG00140.hp2
HG00280.hp1
HG00597.hp2
HG00609.hp2
HG01167.hp2
HG01169.hp2
HG01261.hp1
HG01433.hp1
HG01496.hp2
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02486.hp2
HG02523.hp1
HG02647.hp1
HG02698.hp2
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03453.hp1
HG03491.hp2
HG03688.hp1
HG03831.hp2
HG04184.hp2
HG04199.hp2
NA18944.hp1
NA18964.hp2
NA18967.hp1
NA18983.hp2
NA18985.hp2
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.831-1722G>C
c.831-1722G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8510397
chr1:8510608 C
C
 T
T
 7 a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
others(4): Show 
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0006c0025t0007g0025
 7 HG02280.hp1
HG02451.hp2
HG02647.hp2
others(4): Show 
HG02280.hp1
HG02451.hp2
HG02647.hp2
HG02723.hp2
HG02809.hp2
HG02965.hp1
HG03540.hp2
 intron_variant MODIFIER c.831-1933G>A
c.831-1933G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8510608
chr1:8510772 A
A
 AGCCC
AGCCC
 50 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(47): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0018t0001g0005
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
 50 HG00140.hp2
HG00280.hp1
HG00597.hp2
others(47): Show 
HG00140.hp2
HG00280.hp1
HG00597.hp2
HG00609.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01261.hp1
HG01433.hp1
HG01496.hp2
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02486.hp2
HG02523.hp1
HG02647.hp1
HG02683.hp1
HG02698.hp2
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03453.hp1
HG03491.hp2
HG03688.hp1
HG03831.hp2
HG04184.hp2
HG04199.hp2
NA18944.hp1
NA18964.hp2
NA18967.hp1
NA18983.hp2
NA18985.hp2
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.831-2101_831-2098d
others(6): Show 
c.831-2101_831-2098dupGGGC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8510772
chr1:8510964 G
G
 A
A
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.831-2289C>T
c.831-2289C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8510964
chr1:8511404 T
T
 C
C
 12 a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
others(9): Show 
a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0004t0022g0121
a0009c0021t0003g0135
 12 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(9): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03225.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.831-2729A>G
c.831-2729A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8511404
chr1:8511505 G
G
 A
A
 14 a0001c0001t0003g0122
a0001c0001t0006g0153
a0001c0001t0006g0154
others(11): Show 
a0001c0001t0003g0122
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0004t0022g0121
a0009c0021t0003g0135
 14 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(11): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp2
NA18906.hp2
NA20300.hp2
 intron_variant MODIFIER c.831-2830C>T
c.831-2830C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8511505
chr1:8511545 T
T
 A
A
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.831-2870A>T
c.831-2870A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8511545
chr1:8511650 A
A
 G
G
 2 a0001c0002t0002g0168
a0001c0024t0002g0182
a0001c0002t0002g0168
a0001c0024t0002g0182
 2 HG00741.hp1
HG02896.hp2
HG00741.hp1
HG02896.hp2
 intron_variant MODIFIER c.831-2975T>C
c.831-2975T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8511650
chr1:8511738 C
C
 T
T
 4 a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
others(1): Show 
a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0005t0026g0127
 4 HG02559.hp1
HG02965.hp2
HG03579.hp2
others(1): Show 
HG02559.hp1
HG02965.hp2
HG03579.hp2
NA21309.hp1
 intron_variant MODIFIER c.831-3063G>A
c.831-3063G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8511738
chr1:8511779 C
C
 T
T
 4 a0001c0002t0005g0110
a0001c0004t0003g0109
a0005c0013t0021g0023
others(1): Show 
a0001c0002t0005g0110
a0001c0004t0003g0109
a0005c0013t0021g0023
a0005c0013t0029g0111
 4 HG02723.hp1
HG03041.hp1
HG03471.hp1
others(1): Show 
HG02723.hp1
HG03041.hp1
HG03471.hp1
NA21309.hp2
 intron_variant MODIFIER c.831-3104G>A
c.831-3104G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8511779
chr1:8511779 CT
CT
 C
C
 8 a0001c0002t0002g0149
a0001c0002t0002g0157
a0001c0002t0032g0155
others(5): Show 
a0001c0002t0002g0149
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0024t0002g0182
a0002c0006t0003g0094
 8 HG02602.hp1
HG02622.hp1
HG02886.hp2
others(5): Show 
HG02602.hp1
HG02622.hp1
HG02886.hp2
HG02896.hp2
HG03130.hp1
HG03453.hp2
HG03579.hp1
NA19074.hp2
 intron_variant MODIFIER c.831-3105delA
c.831-3105delA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8511779
chr1:8511793 T
T
 A
A
 1 a0001c0004t0006g0146
a0001c0004t0006g0146
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.831-3118A>T
c.831-3118A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8511793
chr1:8512014 C
C
 CT
CT
 34 a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
others(31): Show 
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0153
a0001c0001t0016g0054
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0148
a0001c0002t0002g0161
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0168
a0001c0002t0002g0174
a0001c0002t0002g0179
a0001c0002t0002g0183
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0192
a0001c0003t0008g0085
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0098
a0001c0022t0008g0082
a0001c0024t0002g0182
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0004c0012t0008g0137
a0004c0012t0008g0138
a0007c0020t0039g0197
a0008c0017t0003g0101
 34 HG00280.hp2
HG00597.hp1
HG00741.hp1
others(31): Show 
HG00280.hp2
HG00597.hp1
HG00741.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01433.hp2
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG01934.hp2
HG02027.hp2
HG02132.hp1
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02735.hp1
HG02896.hp2
HG02976.hp2
HG03195.hp1
HG03225.hp2
HG03516.hp2
HG04184.hp1
HG04228.hp2
HG06807.hp1
NA18944.hp2
NA18946.hp2
NA18973.hp2
NA19000.hp1
NA19005.hp2
NA19043.hp1
NA19070.hp1
NA19074.hp2
NA20905.hp2
 intron_variant MODIFIER c.831-3340dupA
c.831-3340dupA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8512014
chr1:8512014 C
C
 CTT
CTT
 11 a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0104
others(8): Show 
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0104
a0001c0001t0006g0181
a0001c0001t0031g0144
a0001c0002t0002g0180
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0005t0019g0030
a0002c0006t0003g0091
a0010c0027t0003g0086
 11 HG00609.hp1
HG02080.hp2
HG02683.hp2
others(8): Show 
HG00609.hp1
HG02080.hp2
HG02683.hp2
HG03130.hp2
HG04115.hp1
HG06807.hp2
NA18964.hp1
NA18985.hp1
NA18993.hp2
NA19002.hp2
NA20129.hp1
 intron_variant MODIFIER c.831-3341_831-3340d
others(4): Show 
c.831-3341_831-3340dupAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8512014
chr1:8512014 C
C
 CTTT
CTTT
 7 a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0003g0088
others(4): Show 
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0003g0088
a0001c0002t0002g0177
a0001c0002t0005g0114
a0001c0003t0011g0096
a0001c0007t0003g0099
 7 HG01496.hp1
HG01884.hp2
HG02004.hp1
others(4): Show 
HG01496.hp1
HG01884.hp2
HG02004.hp1
HG02074.hp1
HG03209.hp2
NA18906.hp1
NA20752.hp2
 intron_variant MODIFIER c.831-3342_831-3340d
others(5): Show 
c.831-3342_831-3340dupAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8512014
chr1:8512014 C
C
 CTTTTTT
CTTTTTT
 8 a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0001g0062
others(5): Show 
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0004t0010g0107
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0006c0025t0007g0025
 8 HG01261.hp1
HG01496.hp2
HG02647.hp2
others(5): Show 
HG01261.hp1
HG01496.hp2
HG02647.hp2
HG02809.hp2
HG02965.hp1
HG03453.hp2
HG03540.hp2
NA20300.hp1
 intron_variant MODIFIER c.831-3345_831-3340d
others(8): Show 
c.831-3345_831-3340dupAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8512014
chr1:8512014 C
C
 CTTTTTTT
others(3): Show 
CTTTTTTTTTT
 3 a0001c0001t0003g0122
a0001c0003t0017g0032
a0001c0016t0020g0001
a0001c0001t0003g0122
a0001c0003t0017g0032
a0001c0016t0020g0001
 3 HG02145.hp2
HG04115.hp2
NA20129.hp2
HG02145.hp2
HG04115.hp2
NA20129.hp2
 intron_variant MODIFIER c.831-3349_831-3340d
others(12): Show 
c.831-3349_831-3340dupAAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8512014
chr1:8512014 C
C
 CTTTTTTT
others(4): Show 
CTTTTTTTTTTT
 2 a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0012g0018
a0001c0003t0012g0022
 2 HG02622.hp2
NA19043.hp2
HG02622.hp2
NA19043.hp2
 intron_variant MODIFIER c.831-3350_831-3340d
others(13): Show 
c.831-3350_831-3340dupAAAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8512014
chr1:8512014 C
C
 CTTTTTTT
others(5): Show 
CTTTTTTTTTTTT
 8 a0001c0001t0001g0064
a0001c0002t0005g0129
a0001c0002t0005g0130
others(5): Show 
a0001c0001t0001g0064
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0134
a0001c0002t0028g0133
a0001c0003t0004g0021
a0001c0003t0015g0147
a0009c0021t0003g0135
 8 HG00597.hp2
HG01175.hp2
HG01192.hp1
others(5): Show 
HG00597.hp2
HG01175.hp2
HG01192.hp1
HG02280.hp2
HG02809.hp1
HG02818.hp2
HG03225.hp1
NA18906.hp2
 intron_variant MODIFIER c.831-3351_831-3340d
others(14): Show 
c.831-3351_831-3340dupAAAAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8512014
chr1:8512014 C
C
 CTTTTTTT
others(6): Show 
CTTTTTTTTTTTTT
 7 a0001c0002t0005g0128
a0001c0002t0005g0131
a0001c0002t0005g0132
others(4): Show 
a0001c0002t0005g0128
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0136
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0007t0004g0044
 7 HG01884.hp1
HG02109.hp2
HG02886.hp1
others(4): Show 
HG01884.hp1
HG02109.hp2
HG02886.hp1
HG03471.hp2
NA18939.hp1
NA18964.hp2
NA18993.hp1
 intron_variant MODIFIER c.831-3352_831-3340d
others(15): Show 
c.831-3352_831-3340dupAAAAAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8512014
chr1:8512014 C
C
 CTTTTTTT
others(7): Show 
CTTTTTTTTTTTTTT
 5 a0001c0001t0001g0004
a0001c0001t0001g0052
a0001c0001t0001g0055
others(2): Show 
a0001c0001t0001g0004
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0004t0005g0123
a0002c0006t0003g0139
 5 HG01361.hp2
HG02602.hp2
HG04199.hp2
others(2): Show 
HG01361.hp2
HG02602.hp2
HG04199.hp2
NA18983.hp2
NA19074.hp1
 intron_variant MODIFIER c.831-3353_831-3340d
others(16): Show 
c.831-3353_831-3340dupAAAAAAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8512014
chr1:8512014 C
C
 CTTTTTTT
others(8): Show 
CTTTTTTTTTTTTTTT
 4 a0001c0001t0001g0075
a0001c0001t0003g0141
a0001c0004t0001g0003
others(1): Show 
a0001c0001t0001g0075
a0001c0001t0003g0141
a0001c0004t0001g0003
a0001c0004t0001g0049
 4 HG00609.hp2
HG02683.hp1
HG04184.hp2
others(1): Show 
HG00609.hp2
HG02683.hp1
HG04184.hp2
NA18967.hp1
 intron_variant MODIFIER c.831-3354_831-3340d
others(17): Show 
c.831-3354_831-3340dupAAAAAAAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8512014
chr1:8512014 C
C
 CTTTTTTT
others(9): Show 
CTTTTTTTTTTTTTTTT
 1 a0001c0003t0004g0019
a0001c0003t0004g0019
 1 NA18973.hp1
NA18973.hp1
 intron_variant MODIFIER c.831-3355_831-3340d
others(18): Show 
c.831-3355_831-3340dupAAAAAAAAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8512014
chr1:8512014 C
C
 CTTTTTTT
others(10): Show 
CTTTTTTTTTTTTTTTTT
 4 a0001c0001t0001g0046
a0001c0003t0004g0007
a0001c0003t0004g0011
others(1): Show 
a0001c0001t0001g0046
a0001c0003t0004g0007
a0001c0003t0004g0011
a0001c0015t0001g0009
 4 HG02165.hp2
HG02896.hp1
HG03654.hp2
others(1): Show 
HG02165.hp2
HG02896.hp1
HG03654.hp2
NA18946.hp1
 intron_variant MODIFIER c.831-3356_831-3340d
others(19): Show 
c.831-3356_831-3340dupAAAAAAAAAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8512014
chr1:8512014 C
C
 CTTTTTTT
others(12): Show 
CTTTTTTTTTTTTTTTTTTT
 3 a0001c0001t0001g0074
a0001c0003t0004g0010
a0001c0003t0004g0036
a0001c0001t0001g0074
a0001c0003t0004g0010
a0001c0003t0004g0036
 3 HG02698.hp1
HG02976.hp1
homoSapiens_chm13v2.hp1
HG02698.hp1
HG02976.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.831-3358_831-3340d
others(21): Show 
c.831-3358_831-3340dupAAAAAAAAAAAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8512014
chr1:8512014 C
C
 CTTTTTTT
others(13): Show 
CTTTTTTTTTTTTTTTTTTTT
 5 a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0007t0001g0008
others(2): Show 
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0007t0001g0008
a0001c0009t0004g0016
a0001c0018t0001g0005
 5 HG00544.hp2
HG01255.hp1
HG01358.hp2
others(2): Show 
HG00544.hp2
HG01255.hp1
HG01358.hp2
HG03688.hp1
HG03831.hp1
 intron_variant MODIFIER c.831-3359_831-3340d
others(22): Show 
c.831-3359_831-3340dupAAAAAAAAAAAAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8512014
chr1:8512014 C
C
 CTTTTTTT
others(14): Show 
CTTTTTTTTTTTTTTTTTTTTT
 3 a0001c0003t0004g0035
a0001c0007t0004g0047
a0001c0009t0004g0020
a0001c0003t0004g0035
a0001c0007t0004g0047
a0001c0009t0004g0020
 3 HG00639.hp2
HG01168.hp2
NA19070.hp2
HG00639.hp2
HG01168.hp2
NA19070.hp2
 intron_variant MODIFIER c.831-3360_831-3340d
others(23): Show 
c.831-3360_831-3340dupAAAAAAAAAAAAAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8512014
chr1:8512014 C
C
 CTTTTTTT
others(15): Show 
CTTTTTTTTTTTTTTTTTTTTTT
 3 a0001c0001t0001g0043
a0001c0001t0003g0124
a0001c0003t0004g0017
a0001c0001t0001g0043
a0001c0001t0003g0124
a0001c0003t0004g0017
 3 HG00140.hp1
HG02074.hp2
HG03491.hp2
HG00140.hp1
HG02074.hp2
HG03491.hp2
 intron_variant MODIFIER c.831-3361_831-3340d
others(24): Show 
c.831-3361_831-3340dupAAAAAAAAAAAAAAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8512014
chr1:8512014 C
C
 CTTTTTTT
others(16): Show 
CTTTTTTTTTTTTTTTTTTTTTTT
 2 a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0004g0068
a0001c0003t0004g0078
 2 HG02258.hp2
NA19009.hp2
HG02258.hp2
NA19009.hp2
 intron_variant MODIFIER c.831-3362_831-3340d
others(25): Show 
c.831-3362_831-3340dupAAAAAAAAAAAAAAAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8512014
chr1:8512014 C
C
 CTTTTTTT
others(17): Show 
CTTTTTTTTTTTTTTTTTTTTTTTT
 2 a0001c0001t0001g0013
a0001c0003t0008g0105
a0001c0001t0001g0013
a0001c0003t0008g0105
 2 HG00741.hp2
HG01192.hp2
HG00741.hp2
HG01192.hp2
 intron_variant MODIFIER c.831-3363_831-3340d
others(26): Show 
c.831-3363_831-3340dupAAAAAAAAAAAAAAAAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8512014
chr1:8512014 C
C
 CTTTTTTT
others(19): Show 
CTTTTTTTTTTTTTTTTTTTTTTTTTT
 1 a0001c0001t0001g0065
a0001c0001t0001g0065
 1 HG02080.hp1
HG02080.hp1
 intron_variant MODIFIER c.831-3365_831-3340d
others(28): Show 
c.831-3365_831-3340dupAAAAAAAAAAAAAAAAAAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8512014
chr1:8512014 C
C
 CTTTTTTT
others(20): Show 
CTTTTTTTTTTTTTTTTTTTTTTTTTTT
 2 a0001c0001t0001g0067
a0001c0001t0006g0170
a0001c0001t0001g0067
a0001c0001t0006g0170
 2 HG02698.hp2
HG03831.hp2
HG02698.hp2
HG03831.hp2
 intron_variant MODIFIER c.831-3366_831-3340d
others(29): Show 
c.831-3366_831-3340dupAAAAAAAAAAAAAAAAAAAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8512014
chr1:8512014 C
C
 CTTTTTTT
others(22): Show 
CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
 1 a0001c0001t0001g0038
a0001c0001t0001g0038
 1 HG02523.hp1
HG02523.hp1
 intron_variant MODIFIER c.831-3368_831-3340d
others(31): Show 
c.831-3368_831-3340dupAAAAAAAAAAAAAAAAAAAAAAAAAAAA
A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8512014
chr1:8512014 C
C
 CTTTTTTT
others(26): Show 
CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
 1 a0002c0026t0008g0140
a0002c0026t0008g0140
 1 HG01981.hp1
HG01981.hp1
 intron_variant MODIFIER c.831-3340_831-3339i
others(35): Show 
c.831-3340_831-3339insAAAAAAAAAAAAAAAAAAAAAAAAAAAA
AAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8512014
chr1:8512014 CT
CT
 C
C
 8 a0001c0001t0023g0113
a0001c0002t0018g0002
a0001c0004t0014g0126
others(5): Show 
a0001c0001t0023g0113
a0001c0002t0018g0002
a0001c0004t0014g0126
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
 8 HG00544.hp1
HG02109.hp1
HG02257.hp2
others(5): Show 
HG00544.hp1
HG02109.hp1
HG02257.hp2
HG02559.hp1
HG02965.hp2
HG02970.hp2
HG03209.hp1
HG03516.hp1
 intron_variant MODIFIER c.831-3340delA
c.831-3340delA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8512014
chr1:8512014 CTT
CTT
 C
C
 6 a0001c0001t0001g0040
a0001c0001t0036g0194
a0001c0002t0002g0157
others(3): Show 
a0001c0001t0001g0040
a0001c0001t0036g0194
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0142
a0001c0005t0034g0156
 6 HG02155.hp1
HG02622.hp1
HG03130.hp1
others(3): Show 
HG02155.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
HG03579.hp2
NA18985.hp2
 intron_variant MODIFIER c.831-3341_831-3340d
others(4): Show 
c.831-3341_831-3340delAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8512014
chr1:8512014 CTTT
CTTT
 C
C
 5 a0001c0001t0001g0048
a0001c0001t0001g0070
a0001c0001t0001g0076
others(2): Show 
a0001c0001t0001g0048
a0001c0001t0001g0070
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0005t0026g0127
 5 NA19007.hp1
NA19009.hp1
NA19085.hp2
others(2): Show 
NA19007.hp1
NA19009.hp1
NA19085.hp2
NA19090.hp1
NA21309.hp1
 intron_variant MODIFIER c.831-3342_831-3340d
others(5): Show 
c.831-3342_831-3340delAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8512014
chr1:8512014 CTTTTTTT
others(3): Show 
CTTTTTTTTTT
 C
C
 1 a0001c0004t0022g0121
a0001c0004t0022g0121
 1 HG02257.hp1
HG02257.hp1
 intron_variant MODIFIER c.831-3349_831-3340d
others(12): Show 
c.831-3349_831-3340delAAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8512014
chr1:8512014 CTTTTTTT
others(4): Show 
CTTTTTTTTTTT
 C
C
 6 a0001c0001t0006g0184
a0001c0002t0005g0110
a0001c0004t0003g0109
others(3): Show 
a0001c0001t0006g0184
a0001c0002t0005g0110
a0001c0004t0003g0109
a0001c0004t0010g0120
a0005c0013t0021g0023
a0005c0013t0029g0111
 6 HG01167.hp1
HG02723.hp1
HG03041.hp1
others(3): Show 
HG01167.hp1
HG02723.hp1
HG03041.hp1
HG03471.hp1
NA18944.hp1
NA21309.hp2
 intron_variant MODIFIER c.831-3350_831-3340d
others(13): Show 
c.831-3350_831-3340delAAAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8512014
chr1:8512014 CTTTTTTT
others(6): Show 
CTTTTTTTTTTTTT
 C
C
 1 a0001c0001t0001g0066
a0001c0001t0001g0066
 1 HG02027.hp1
HG02027.hp1
 intron_variant MODIFIER c.831-3352_831-3340d
others(15): Show 
c.831-3352_831-3340delAAAAAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8512014
chr1:8512014 CTTTTTTT
others(10): Show 
CTTTTTTTTTTTTTTTTT
 C
C
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.831-3356_831-3340d
others(19): Show 
c.831-3356_831-3340delAAAAAAAAAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8512014
chr1:8512368 G
G
 A
A
 1 a0001c0005t0026g0127
a0001c0005t0026g0127
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.831-3693C>T
c.831-3693C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8512368
chr1:8512708 C
C
 G
G
 5 a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0070
others(2): Show 
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0070
a0001c0001t0001g0076
a0001c0001t0001g0077
 5 HG02129.hp2
NA19007.hp1
NA19009.hp1
others(2): Show 
HG02129.hp2
NA19007.hp1
NA19009.hp1
NA19085.hp2
NA19090.hp1
 intron_variant MODIFIER c.831-4033G>C
c.831-4033G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8512708
chr1:8512755 G
G
 A
A
 4 a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0005t0019g0030
others(1): Show 
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0005t0019g0030
a0001c0016t0020g0001
 4 HG02683.hp2
HG03130.hp2
HG06807.hp2
others(1): Show 
HG02683.hp2
HG03130.hp2
HG06807.hp2
NA20129.hp2
 intron_variant MODIFIER c.831-4080C>T
c.831-4080C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8512755
chr1:8512813 C
C
 G
G
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.831-4138G>C
c.831-4138G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8512813
chr1:8512949 C
C
 T
T
 44 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(41): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0008c0017t0003g0101
a0010c0027t0003g0086
 44 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(41): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02723.hp1
HG02735.hp2
HG02976.hp2
HG03041.hp1
HG03195.hp1
HG03471.hp1
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.831-4274G>A
c.831-4274G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8512949
chr1:8512993 T
T
 C
C
 1 a0001c0002t0018g0002
a0001c0002t0018g0002
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.831-4318A>G
c.831-4318A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8512993
chr1:8513187 T
T
 C
C
 2 a0005c0013t0021g0023
a0005c0013t0029g0111
a0005c0013t0021g0023
a0005c0013t0029g0111
 2 HG03041.hp1
HG03471.hp1
HG03041.hp1
HG03471.hp1
 intron_variant MODIFIER c.831-4512A>G
c.831-4512A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8513187
chr1:8513412 G
G
 C
C
 97 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(94): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0006c0025t0007g0025
a0007c0020t0039g0197
 97 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(94): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.831-4737C>G
c.831-4737C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8513412
chr1:8513544 C
C
 T
T
 5 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(2): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
 5 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(2): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.831-4869G>A
c.831-4869G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8513544
chr1:8513658 C
C
 T
T
 106 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(103): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0002g0157
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0004t0010g0107
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0006c0025t0007g0025
a0007c0020t0039g0197
 106 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(103): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.831-4983G>A
c.831-4983G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8513658
chr1:8513771 A
A
 G
G
 1 a0001c0003t0011g0112
a0001c0003t0011g0112
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.831-5096T>C
c.831-5096T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8513771
chr1:8513978 G
G
 A
A
 2 a0002c0006t0003g0139
a0002c0026t0008g0140
a0002c0006t0003g0139
a0002c0026t0008g0140
 2 HG01361.hp2
HG01981.hp1
HG01361.hp2
HG01981.hp1
 intron_variant MODIFIER c.831-5303C>T
c.831-5303C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8513978
chr1:8514023 T
T
 C
C
 1 a0001c0001t0001g0065
a0001c0001t0001g0065
 1 HG02080.hp1
HG02080.hp1
 intron_variant MODIFIER c.831-5348A>G
c.831-5348A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8514023
chr1:8514059 C
C
 T
T
 89 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(86): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0006c0025t0007g0025
 89 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(86): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03453.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.831-5384G>A
c.831-5384G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8514059
chr1:8514411 T
T
 A
A
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.831-5736A>T
c.831-5736A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8514411
chr1:8514439 A
A
 C
C
 3 a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0036
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0036
 3 HG02698.hp1
HG03654.hp2
homoSapiens_chm13v2.hp1
HG02698.hp1
HG03654.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.831-5764T>G
c.831-5764T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8514439
chr1:8514874 C
C
 T
T
 1 a0001c0001t0001g0074
a0001c0001t0001g0074
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.831-6199G>A
c.831-6199G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8514874
chr1:8514913 G
G
 T
T
 106 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(103): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0002g0157
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0004t0010g0107
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0006c0025t0007g0025
a0007c0020t0039g0197
 106 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(103): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.831-6238C>A
c.831-6238C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8514913
chr1:8515005 C
C
 A
A
 102 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(99): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0002g0157
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0004t0010g0107
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0006c0025t0007g0025
a0007c0020t0039g0197
 102 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(99): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.831-6330G>T
c.831-6330G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8515005
chr1:8515162 G
G
 A
A
 4 a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
others(1): Show 
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0031g0144
 4 HG00597.hp1
HG02523.hp2
NA18973.hp2
others(1): Show 
HG00597.hp1
HG02523.hp2
NA18973.hp2
NA18993.hp2
 intron_variant MODIFIER c.831-6487C>T
c.831-6487C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8515162
chr1:8515240 T
T
 G
G
 5 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0014g0126
others(2): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0014g0126
a0001c0005t0026g0127
a0001c0005t0034g0156
 5 HG02622.hp1
HG02965.hp2
HG03130.hp1
others(2): Show 
HG02622.hp1
HG02965.hp2
HG03130.hp1
HG03579.hp1
NA21309.hp1
 intron_variant MODIFIER c.831-6565A>C
c.831-6565A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8515240
chr1:8515385 TGGTGGCT
others(20): Show 
TGGTGGCTCACCTGAGGCAGGCAGGTCA
 T
T
 3 a0001c0002t0002g0152
a0001c0002t0002g0162
a0001c0002t0002g0179
a0001c0002t0002g0152
a0001c0002t0002g0162
a0001c0002t0002g0179
 3 HG02559.hp2
HG03516.hp2
HG03540.hp1
HG02559.hp2
HG03516.hp2
HG03540.hp1
 intron_variant MODIFIER c.831-6737_831-6711d
others(29): Show 
c.831-6737_831-6711delTGACCTGCCTGCCTCAGGTGAGCCACC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8515385
chr1:8515519 T
T
 A
A
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.831-6844A>T
c.831-6844A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8515519
chr1:8515640 AAAC
AAAC
 A
A
 5 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(2): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
 5 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(2): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.831-6968_831-6966d
others(5): Show 
c.831-6968_831-6966delGTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8515640
chr1:8516069 C
C
 G
G
 1 a0001c0022t0008g0082
a0001c0022t0008g0082
 1 HG00280.hp2
HG00280.hp2
 intron_variant MODIFIER c.831-7394G>C
c.831-7394G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8516069
chr1:8516110 G
G
 A
A
 1 a0002c0006t0003g0089
a0002c0006t0003g0089
 1 HG02132.hp1
HG02132.hp1
 intron_variant MODIFIER c.831-7435C>T
c.831-7435C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8516110
chr1:8516132 G
G
 A
A
 1 a0001c0001t0001g0037
a0001c0001t0001g0037
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.831-7457C>T
c.831-7457C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8516132
chr1:8516227 G
G
 GAAA
GAAA
 79 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(76): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0141
a0001c0001t0006g0170
a0001c0001t0036g0194
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0006c0025t0007g0025
 79 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(76): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04184.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.831-7555_831-7553d
others(5): Show 
c.831-7555_831-7553dupTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8516227
chr1:8516227 G
G
 GAAAA
GAAAA
 11 a0001c0001t0001g0055
a0001c0001t0001g0069
a0001c0001t0006g0184
others(8): Show 
a0001c0001t0001g0055
a0001c0001t0001g0069
a0001c0001t0006g0184
a0001c0002t0005g0125
a0001c0002t0018g0002
a0001c0003t0004g0011
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0017g0032
a0001c0004t0010g0142
a0002c0006t0003g0139
 11 HG01361.hp2
HG02559.hp1
HG02622.hp2
others(8): Show 
HG01361.hp2
HG02559.hp1
HG02622.hp2
HG02683.hp2
HG03453.hp1
HG03579.hp2
HG04115.hp2
HG04199.hp2
NA18944.hp1
NA18946.hp1
NA19000.hp2
 intron_variant MODIFIER c.831-7556_831-7553d
others(6): Show 
c.831-7556_831-7553dupTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8516227
chr1:8516227 G
G
 GAAAAA
GAAAAA
 7 a0001c0004t0040g0199
a0001c0005t0009g0202
a0001c0005t0009g0203
others(4): Show 
a0001c0004t0040g0199
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0002c0006t0003g0094
a0007c0020t0039g0197
 7 HG02109.hp1
HG02145.hp1
HG02818.hp1
others(4): Show 
HG02109.hp1
HG02145.hp1
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG06807.hp1
NA19074.hp2
 intron_variant MODIFIER c.831-7557_831-7553d
others(7): Show 
c.831-7557_831-7553dupTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8516227
chr1:8516227 G
G
 GAAAAAAA
others(4): Show 
GAAAAAAAAAAA
 2 a0001c0001t0003g0104
a0001c0001t0038g0195
a0001c0001t0003g0104
a0001c0001t0038g0195
 2 HG00609.hp1
HG01515.hp1
HG00609.hp1
HG01515.hp1
 intron_variant MODIFIER c.831-7563_831-7553d
others(13): Show 
c.831-7563_831-7553dupTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8516227
chr1:8516227 G
G
 GAAAAAAA
others(5): Show 
GAAAAAAAAAAAA
 1 a0001c0002t0002g0157
a0001c0002t0002g0157
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.831-7564_831-7553d
others(14): Show 
c.831-7564_831-7553dupTTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8516227
chr1:8516227 G
G
 GAAAAAAA
others(6): Show 
GAAAAAAAAAAAAA
 4 a0001c0002t0005g0114
a0001c0005t0034g0156
a0005c0013t0021g0023
others(1): Show 
a0001c0002t0005g0114
a0001c0005t0034g0156
a0005c0013t0021g0023
a0005c0013t0029g0111
 4 HG02004.hp1
HG02622.hp1
HG03041.hp1
others(1): Show 
HG02004.hp1
HG02622.hp1
HG03041.hp1
HG03471.hp1
 intron_variant MODIFIER c.831-7565_831-7553d
others(15): Show 
c.831-7565_831-7553dupTTTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8516227
chr1:8516227 G
G
 GAAAAAAA
others(9): Show 
GAAAAAAAAAAAAAAAA
 2 a0001c0002t0005g0110
a0010c0027t0003g0086
a0001c0002t0005g0110
a0010c0027t0003g0086
 2 HG02723.hp1
NA18985.hp1
HG02723.hp1
NA18985.hp1
 intron_variant MODIFIER c.831-7568_831-7553d
others(18): Show 
c.831-7568_831-7553dupTTTTTTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8516227
chr1:8516227 G
G
 GAAAAAAA
others(10): Show 
GAAAAAAAAAAAAAAAAA
 3 a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0002t0006g0145
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0002t0006g0145
 3 HG02523.hp2
HG03491.hp1
NA18973.hp2
HG02523.hp2
HG03491.hp1
NA18973.hp2
 intron_variant MODIFIER c.831-7569_831-7553d
others(19): Show 
c.831-7569_831-7553dupTTTTTTTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8516227
chr1:8516227 G
G
 GAAAAAAA
others(11): Show 
GAAAAAAAAAAAAAAAAAA
 7 a0001c0001t0003g0102
a0001c0001t0003g0115
a0001c0001t0031g0144
others(4): Show 
a0001c0001t0003g0102
a0001c0001t0003g0115
a0001c0001t0031g0144
a0001c0004t0005g0083
a0001c0007t0003g0084
a0002c0006t0024g0081
a0004c0012t0008g0137
 7 HG00597.hp1
HG01433.hp2
HG03195.hp1
others(4): Show 
HG00597.hp1
HG01433.hp2
HG03195.hp1
HG03688.hp2
NA18983.hp1
NA18993.hp2
NA19005.hp2
 intron_variant MODIFIER c.831-7570_831-7553d
others(20): Show 
c.831-7570_831-7553dupTTTTTTTTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8516227
chr1:8516227 G
G
 GAAAAAAA
others(12): Show 
GAAAAAAAAAAAAAAAAAAA
 5 a0001c0001t0023g0113
a0001c0004t0005g0079
a0001c0004t0025g0080
others(2): Show 
a0001c0001t0023g0113
a0001c0004t0005g0079
a0001c0004t0025g0080
a0001c0007t0003g0098
a0001c0007t0003g0099
 5 HG00544.hp1
HG02735.hp2
HG04228.hp2
others(2): Show 
HG00544.hp1
HG02735.hp2
HG04228.hp2
NA19000.hp1
NA20752.hp2
 intron_variant MODIFIER c.831-7571_831-7553d
others(21): Show 
c.831-7571_831-7553dupTTTTTTTTTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8516227
chr1:8516227 G
G
 GAAAAAAA
others(13): Show 
GAAAAAAAAAAAAAAAAAAAA
 1 a0002c0006t0003g0089
a0002c0006t0003g0089
 1 HG02132.hp1
HG02132.hp1
 intron_variant MODIFIER c.831-7572_831-7553d
others(22): Show 
c.831-7572_831-7553dupTTTTTTTTTTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8516227
chr1:8516227 G
G
 GAAAAAAA
others(14): Show 
GAAAAAAAAAAAAAAAAAAAAA
 2 a0001c0001t0003g0095
a0008c0017t0003g0101
a0001c0001t0003g0095
a0008c0017t0003g0101
 2 NA20129.hp1
NA20905.hp2
NA20129.hp1
NA20905.hp2
 intron_variant MODIFIER c.831-7573_831-7553d
others(23): Show 
c.831-7573_831-7553dupTTTTTTTTTTTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8516227
chr1:8516227 G
G
 GAAAAAAA
others(15): Show 
GAAAAAAAAAAAAAAAAAAAAAA
 3 a0001c0001t0006g0181
a0001c0002t0032g0155
a0002c0006t0003g0097
a0001c0001t0006g0181
a0001c0002t0032g0155
a0002c0006t0003g0097
 3 HG03579.hp1
HG04115.hp1
NA18944.hp2
HG03579.hp1
HG04115.hp1
NA18944.hp2
 intron_variant MODIFIER c.831-7574_831-7553d
others(24): Show 
c.831-7574_831-7553dupTTTTTTTTTTTTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8516227
chr1:8516227 G
G
 GAAAAAAA
others(16): Show 
GAAAAAAAAAAAAAAAAAAAAAAA
 4 a0001c0003t0008g0085
a0002c0006t0003g0090
a0002c0006t0003g0091
others(1): Show 
a0001c0003t0008g0085
a0002c0006t0003g0090
a0002c0006t0003g0091
a0004c0012t0008g0138
 4 HG01934.hp1
HG02165.hp1
HG02976.hp2
others(1): Show 
HG01934.hp1
HG02165.hp1
HG02976.hp2
NA19002.hp2
 intron_variant MODIFIER c.831-7553_831-7552i
others(25): Show 
c.831-7553_831-7552insTTTTTTTTTTTTTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8516227
chr1:8516227 G
G
 GAAAAAAA
others(17): Show 
GAAAAAAAAAAAAAAAAAAAAAAAA
 1 a0001c0001t0003g0093
a0001c0001t0003g0093
 1 NA18964.hp1
NA18964.hp1
 intron_variant MODIFIER c.831-7553_831-7552i
others(26): Show 
c.831-7553_831-7552insTTTTTTTTTTTTTTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8516227
chr1:8516227 G
G
 GAAAAAAA
others(19): Show 
GAAAAAAAAAAAAAAAAAAAAAAAAAA
 2 a0001c0001t0003g0100
a0001c0004t0006g0146
a0001c0001t0003g0100
a0001c0004t0006g0146
 2 NA19007.hp2
NA19043.hp1
NA19007.hp2
NA19043.hp1
 intron_variant MODIFIER c.831-7553_831-7552i
others(28): Show 
c.831-7553_831-7552insTTTTTTTTTTTTTTTTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8516227
chr1:8516227 G
G
 GAAAAAAA
others(20): Show 
GAAAAAAAAAAAAAAAAAAAAAAAAAAA
 1 a0001c0001t0003g0103
a0001c0001t0003g0103
 1 NA19090.hp2
NA19090.hp2
 intron_variant MODIFIER c.831-7553_831-7552i
others(29): Show 
c.831-7553_831-7552insTTTTTTTTTTTTTTTTTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8516227
chr1:8516227 G
G
 GAAAAAAA
others(23): Show 
GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
 1 a0001c0022t0008g0082
a0001c0022t0008g0082
 1 HG00280.hp2
HG00280.hp2
 intron_variant MODIFIER c.831-7553_831-7552i
others(32): Show 
c.831-7553_831-7552insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8516227
chr1:8516227 G
G
 GAAAAAAA
others(24): Show 
GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
 2 a0001c0001t0030g0143
a0001c0002t0002g0163
a0001c0001t0030g0143
a0001c0002t0002g0163
 2 HG02155.hp2
HG02451.hp1
HG02155.hp2
HG02451.hp1
 intron_variant MODIFIER c.831-7553_831-7552i
others(33): Show 
c.831-7553_831-7552insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8516227
chr1:8516227 G
G
 GAAAAAAA
others(26): Show 
GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
 1 a0001c0001t0003g0087
a0001c0001t0003g0087
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.831-7553_831-7552i
others(35): Show 
c.831-7553_831-7552insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8516227
chr1:8516227 G
G
 GAAAAAAA
others(27): Show 
GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
 1 a0001c0001t0016g0054
a0001c0001t0016g0054
 1 HG02293.hp1
HG02293.hp1
 intron_variant MODIFIER c.831-7553_831-7552i
others(36): Show 
c.831-7553_831-7552insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8516227
chr1:8516227 G
G
 GGAAAAAA
others(6): Show 
GGAAAAAAAAAAAA
 1 a0001c0001t0003g0122
a0001c0001t0003g0122
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.831-7553_831-7552i
others(15): Show 
c.831-7553_831-7552insTTTTTTTTTTTTC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8516227
chr1:8516227 G
G
 GGAAAAAA
others(19): Show 
GGAAAAAAAAAAAAAAAAAAAAAAAAA
 1 a0001c0002t0005g0128
a0001c0002t0005g0128
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.831-7553_831-7552i
others(28): Show 
c.831-7553_831-7552insTTTTTTTTTTTTTTTTTTTTTTTTTC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8516227
chr1:8516227 G
G
 GGAAAAAA
others(20): Show 
GGAAAAAAAAAAAAAAAAAAAAAAAAAA
 1 a0001c0002t0005g0132
a0001c0002t0005g0132
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.831-7553_831-7552i
others(29): Show 
c.831-7553_831-7552insTTTTTTTTTTTTTTTTTTTTTTTTTTC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8516227
chr1:8516227 G
G
 GGAAAAAA
others(25): Show 
GGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
 4 a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0002t0005g0131
others(1): Show 
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0002t0005g0131
a0001c0002t0005g0134
 4 HG02818.hp2
HG03225.hp2
HG03471.hp2
others(1): Show 
HG02818.hp2
HG03225.hp2
HG03471.hp2
NA20300.hp2
 intron_variant MODIFIER c.831-7553_831-7552i
others(34): Show 
c.831-7553_831-7552insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8516227
chr1:8516227 G
G
 GGAAAAAA
others(28): Show 
GGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
 2 a0001c0002t0005g0129
a0001c0004t0022g0121
a0001c0002t0005g0129
a0001c0004t0022g0121
 2 HG02257.hp1
HG03225.hp1
HG02257.hp1
HG03225.hp1
 intron_variant MODIFIER c.831-7553_831-7552i
others(37): Show 
c.831-7553_831-7552insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8516227
chr1:8516227 G
G
 GGAAAAAA
others(29): Show 
GGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
 1 a0009c0021t0003g0135
a0009c0021t0003g0135
 1 HG01175.hp2
HG01175.hp2
 intron_variant MODIFIER c.831-7553_831-7552i
others(38): Show 
c.831-7553_831-7552insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8516227
chr1:8516227 G
G
 GGAAAAAA
others(31): Show 
GGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
 1 a0001c0002t0028g0133
a0001c0002t0028g0133
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.831-7553_831-7552i
others(40): Show 
c.831-7553_831-7552insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTTC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8516227
chr1:8516227 G
G
 GGAAAAAA
others(35): Show 
GGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
 1 a0001c0002t0005g0136
a0001c0002t0005g0136
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.831-7553_831-7552i
others(44): Show 
c.831-7553_831-7552insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTTTTTTC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8516227
chr1:8516227 G
G
 GGAAAAAA
others(37): Show 
GGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
 1 a0001c0002t0005g0130
a0001c0002t0005g0130
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.831-7553_831-7552i
others(46): Show 
c.831-7553_831-7552insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTTTTTTTTC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8516227
chr1:8516230 A
A
 G
G
 1 a0001c0004t0010g0120
a0001c0004t0010g0120
 1 HG01167.hp1
HG01167.hp1
 intron_variant MODIFIER c.831-7555T>C
c.831-7555T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8516230
chr1:8516735 G
G
 T
T
 1 a0001c0001t0003g0087
a0001c0001t0003g0087
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.831-8060C>A
c.831-8060C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8516735
chr1:8516793 G
G
 A
A
 5 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0014g0126
others(2): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0014g0126
a0001c0005t0026g0127
a0001c0005t0034g0156
 5 HG02622.hp1
HG02965.hp2
HG03130.hp1
others(2): Show 
HG02622.hp1
HG02965.hp2
HG03130.hp1
HG03579.hp1
NA21309.hp1
 intron_variant MODIFIER c.831-8118C>T
c.831-8118C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8516793
chr1:8516866 C
C
 T
T
 89 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(86): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0006c0025t0007g0025
 89 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(86): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03453.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.831-8191G>A
c.831-8191G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8516866
chr1:8516962 C
C
 T
T
 1 a0001c0005t0026g0127
a0001c0005t0026g0127
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.831-8287G>A
c.831-8287G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8516962
chr1:8517126 C
C
 A
A
 44 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(41): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0008c0017t0003g0101
a0010c0027t0003g0086
 44 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(41): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02723.hp1
HG02735.hp2
HG02976.hp2
HG03041.hp1
HG03195.hp1
HG03471.hp1
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.831-8451G>T
c.831-8451G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8517126
chr1:8518037 G
G
 T
T
 1 a0001c0003t0011g0112
a0001c0003t0011g0112
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.831-9362C>A
c.831-9362C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8518037
chr1:8518613 G
G
 GA
GA
 3 a0001c0002t0005g0110
a0005c0013t0021g0023
a0005c0013t0029g0111
a0001c0002t0005g0110
a0005c0013t0021g0023
a0005c0013t0029g0111
 3 HG02723.hp1
HG03041.hp1
HG03471.hp1
HG02723.hp1
HG03041.hp1
HG03471.hp1
 intron_variant MODIFIER c.831-9939dupT
c.831-9939dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8518613
chr1:8518990 T
T
 A
A
 1 a0001c0002t0002g0183
a0001c0002t0002g0183
 1 HG01934.hp2
HG01934.hp2
 intron_variant MODIFIER c.831-10315A>T
c.831-10315A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8518990
chr1:8519242 C
C
 T
T
 40 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(37): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0004c0012t0008g0137
a0004c0012t0008g0138
a0008c0017t0003g0101
a0010c0027t0003g0086
 40 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(37): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02735.hp2
HG02976.hp2
HG03195.hp1
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.831-10567G>A
c.831-10567G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8519242
chr1:8519390 A
A
 G
G
 170 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(167): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0152
a0001c0002t0002g0157
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0177
a0001c0002t0002g0179
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 170 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(167): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.831-10715T>C
c.831-10715T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8519390
chr1:8519421 A
A
 G
G
 2 a0001c0005t0009g0200
a0001c0005t0009g0204
a0001c0005t0009g0200
a0001c0005t0009g0204
 2 HG02818.hp1
HG03516.hp1
HG02818.hp1
HG03516.hp1
 intron_variant MODIFIER c.831-10746T>C
c.831-10746T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8519421
chr1:8519485 T
T
 C
C
 10 a0001c0002t0002g0157
a0001c0002t0005g0116
a0001c0002t0018g0002
others(7): Show 
a0001c0002t0002g0157
a0001c0002t0005g0116
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0027g0106
a0001c0005t0026g0127
a0001c0005t0034g0156
 10 HG00639.hp1
HG02559.hp1
HG02622.hp1
others(7): Show 
HG00639.hp1
HG02559.hp1
HG02622.hp1
HG02886.hp2
HG02965.hp2
HG03130.hp1
HG03453.hp2
HG03579.hp1
HG03579.hp2
NA21309.hp1
 intron_variant MODIFIER c.831-10810A>G
c.831-10810A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8519485
chr1:8519486 T
T
 G
G
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.831-10811A>C
c.831-10811A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8519486
chr1:8520082 C
C
 A
A
 1 a0001c0003t0012g0022
a0001c0003t0012g0022
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.831-11407G>T
c.831-11407G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8520082
chr1:8520124 C
C
 G
G
 1 a0001c0007t0004g0044
a0001c0007t0004g0044
 1 NA18964.hp2
NA18964.hp2
 intron_variant MODIFIER c.831-11449G>C
c.831-11449G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8520124
chr1:8520171 G
G
 C
C
 1 a0001c0001t0001g0037
a0001c0001t0001g0037
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.831-11496C>G
c.831-11496C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8520171
chr1:8520200 A
A
 G
G
 1 a0008c0017t0003g0101
a0008c0017t0003g0101
 1 NA20905.hp2
NA20905.hp2
 intron_variant MODIFIER c.831-11525T>C
c.831-11525T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8520200
chr1:8520279 A
A
 G
G
 1 a0001c0001t0001g0050
a0001c0001t0001g0050
 1 NA19005.hp1
NA19005.hp1
 intron_variant MODIFIER c.831-11604T>C
c.831-11604T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8520279
chr1:8520558 G
G
 A
A
 9 a0001c0002t0002g0157
a0001c0002t0018g0002
a0001c0002t0032g0155
others(6): Show 
a0001c0002t0002g0157
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0027g0106
a0001c0005t0026g0127
a0001c0005t0034g0156
 9 HG02559.hp1
HG02622.hp1
HG02886.hp2
others(6): Show 
HG02559.hp1
HG02622.hp1
HG02886.hp2
HG02965.hp2
HG03130.hp1
HG03453.hp2
HG03579.hp1
HG03579.hp2
NA21309.hp1
 intron_variant MODIFIER c.831-11883C>T
c.831-11883C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8520558
chr1:8520567 A
A
 G
G
 3 a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
 3 HG02145.hp1
HG02970.hp2
HG06807.hp1
HG02145.hp1
HG02970.hp2
HG06807.hp1
 intron_variant MODIFIER c.831-11892T>C
c.831-11892T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8520567
chr1:8520665 C
C
 T
T
 1 a0001c0001t0030g0143
a0001c0001t0030g0143
 1 HG02155.hp2
HG02155.hp2
 intron_variant MODIFIER c.831-11990G>A
c.831-11990G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8520665
chr1:8520749 CT
CT
 C
C
 36 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(33): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0006g0146
a0001c0007t0003g0084
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0004c0012t0008g0137
a0004c0012t0008g0138
a0008c0017t0003g0101
a0010c0027t0003g0086
 36 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(33): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02976.hp2
HG03195.hp1
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04115.hp1
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.831-12075delA
c.831-12075delA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8520749
chr1:8520752 T
T
 TAAA
TAAA
 9 a0001c0001t0001g0057
a0001c0001t0001g0061
a0001c0001t0001g0070
others(6): Show 
a0001c0001t0001g0057
a0001c0001t0001g0061
a0001c0001t0001g0070
a0001c0001t0006g0170
a0001c0003t0004g0068
a0001c0003t0012g0018
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
 9 HG01169.hp2
HG02258.hp2
HG02280.hp1
others(6): Show 
HG01169.hp2
HG02258.hp2
HG02280.hp1
HG02451.hp2
HG02622.hp2
HG02698.hp2
HG02723.hp2
NA19009.hp1
NA20300.hp1
 intron_variant MODIFIER c.831-12078_831-1207
others(7): Show 
c.831-12078_831-12077insTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8520752
chr1:8520752 T
T
 TAAAA
TAAAA
 28 a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0038
others(25): Show 
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0067
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0013g0053
a0001c0004t0001g0003
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0018t0001g0005
 28 HG00140.hp2
HG00280.hp1
HG01167.hp2
others(25): Show 
HG00140.hp2
HG00280.hp1
HG01167.hp2
HG01192.hp2
HG01261.hp1
HG01496.hp2
HG02004.hp2
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02486.hp2
HG02523.hp1
HG03491.hp2
HG03688.hp1
HG03831.hp2
HG04184.hp2
HG04199.hp2
NA18944.hp1
NA18964.hp2
NA18983.hp2
NA18985.hp2
NA19002.hp1
NA19007.hp1
NA19070.hp2
NA19085.hp2
NA19090.hp1
NA20905.hp1
 intron_variant MODIFIER c.831-12078_831-1207
others(8): Show 
c.831-12078_831-12077insTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8520752
chr1:8520752 T
T
 TAAAAA
TAAAAA
 8 a0001c0001t0001g0043
a0001c0001t0001g0050
a0001c0001t0001g0064
others(5): Show 
a0001c0001t0001g0043
a0001c0001t0001g0050
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0069
a0001c0001t0001g0075
a0001c0004t0001g0049
 8 HG00597.hp2
HG00609.hp2
HG02027.hp1
others(5): Show 
HG00597.hp2
HG00609.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
NA18967.hp1
NA19000.hp2
NA19005.hp1
 intron_variant MODIFIER c.831-12078_831-1207
others(9): Show 
c.831-12078_831-12077insTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8520752
chr1:8520753 T
T
 A
A
 58 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(55): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0110
a0001c0002t0013g0053
a0001c0003t0004g0068
a0001c0003t0012g0018
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0010g0120
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0007t0003g0098
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0018t0001g0005
a0005c0013t0021g0023
a0005c0013t0029g0111
 58 HG00140.hp2
HG00280.hp1
HG00597.hp2
others(55): Show 
HG00140.hp2
HG00280.hp1
HG00597.hp2
HG00609.hp2
HG01167.hp1
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01261.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02622.hp2
HG02683.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG03041.hp1
HG03471.hp1
HG03491.hp2
HG03688.hp1
HG03831.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
NA18944.hp1
NA18964.hp2
NA18967.hp1
NA18983.hp2
NA18985.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp1
NA20905.hp1
NA21309.hp2
 intron_variant MODIFIER c.831-12078A>T
c.831-12078A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8520753
chr1:8520753 T
T
 TA
TA
 9 a0001c0002t0018g0002
a0001c0004t0040g0199
a0001c0005t0009g0200
others(6): Show 
a0001c0002t0018g0002
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0026g0127
a0007c0020t0039g0197
 9 HG02109.hp1
HG02257.hp2
HG02559.hp1
others(6): Show 
HG02109.hp1
HG02257.hp2
HG02559.hp1
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
NA21309.hp1
 intron_variant MODIFIER c.831-12079_831-1207
others(5): Show 
c.831-12079_831-12078insT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8520753
chr1:8520753 T
T
 TAA
TAA
 6 a0001c0003t0004g0011
a0001c0003t0004g0035
a0001c0004t0010g0142
others(3): Show 
a0001c0003t0004g0011
a0001c0003t0004g0035
a0001c0004t0010g0142
a0001c0009t0041g0198
a0001c0015t0001g0009
a0006c0025t0007g0025
 6 HG00639.hp2
HG02145.hp1
HG02809.hp2
others(3): Show 
HG00639.hp2
HG02145.hp1
HG02809.hp2
HG02896.hp1
HG03579.hp2
NA18946.hp1
 intron_variant MODIFIER c.831-12079_831-1207
others(6): Show 
c.831-12079_831-12078insTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8520753
chr1:8520753 T
T
 TAAA
TAAA
 26 a0001c0001t0001g0037
a0001c0003t0004g0007
a0001c0003t0004g0010
others(23): Show 
a0001c0001t0001g0037
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0012
a0001c0003t0004g0017
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0016t0020g0001
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0072
 26 HG00140.hp1
HG00544.hp2
HG00741.hp2
others(23): Show 
HG00140.hp1
HG00544.hp2
HG00741.hp2
HG01168.hp2
HG01255.hp1
HG01361.hp2
HG01981.hp1
HG02280.hp2
HG02602.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp1
HG02965.hp1
HG03130.hp2
HG03540.hp2
HG03654.hp2
HG04115.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18993.hp1
NA19009.hp2
NA19043.hp2
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.831-12079_831-1207
others(7): Show 
c.831-12079_831-12078insTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8520753
chr1:8520753 T
T
 TAAAA
TAAAA
 10 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0002t0005g0125
others(7): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0002t0005g0125
a0001c0003t0004g0014
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0007t0001g0008
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
 10 HG01192.hp1
HG01358.hp2
HG02970.hp1
others(7): Show 
HG01192.hp1
HG01358.hp2
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03453.hp1
HG03831.hp1
NA18973.hp1
 intron_variant MODIFIER c.831-12079_831-1207
others(8): Show 
c.831-12079_831-12078insTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8520753
chr1:8520754 T
T
 A
A
 161 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(158): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 161 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(158): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.831-12079A>T
c.831-12079A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8520754
chr1:8520755 A
A
 T
T
 1 a0001c0002t0002g0180
a0001c0002t0002g0180
 1 HG02080.hp2
HG02080.hp2
 intron_variant MODIFIER c.831-12080T>A
c.831-12080T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8520755
chr1:8520779 A
A
 G
G
 2 a0001c0002t0002g0151
a0001c0002t0002g0178
a0001c0002t0002g0151
a0001c0002t0002g0178
 2 HG01261.hp2
HG02293.hp2
HG01261.hp2
HG02293.hp2
 intron_variant MODIFIER c.831-12104T>C
c.831-12104T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8520779
chr1:8520817 T
T
 C
C
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.831-12142A>G
c.831-12142A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8520817
chr1:8520901 C
C
 A
A
 43 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(40): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0013g0053
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0018t0001g0005
 43 HG00140.hp2
HG00280.hp1
HG00597.hp2
others(40): Show 
HG00140.hp2
HG00280.hp1
HG00597.hp2
HG00609.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01261.hp1
HG01433.hp1
HG01496.hp2
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02486.hp2
HG02523.hp1
HG02683.hp1
HG02698.hp2
HG03491.hp2
HG03688.hp1
HG03831.hp2
HG04184.hp2
HG04199.hp2
NA18944.hp1
NA18964.hp2
NA18967.hp1
NA18983.hp2
NA18985.hp2
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.831-12226G>T
c.831-12226G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8520901
chr1:8520956 A
A
 C
C
 44 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(41): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0008c0017t0003g0101
a0010c0027t0003g0086
 44 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(41): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02723.hp1
HG02735.hp2
HG02976.hp2
HG03041.hp1
HG03195.hp1
HG03471.hp1
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.831-12281T>G
c.831-12281T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8520956
chr1:8521168 C
C
 A
A
 89 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(86): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0006c0025t0007g0025
 89 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(86): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03453.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.831-12493G>T
c.831-12493G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8521168
chr1:8521176 C
C
 CA
CA
 69 a0001c0001t0003g0087
a0001c0001t0003g0095
a0001c0001t0003g0100
others(66): Show 
a0001c0001t0003g0087
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0028g0133
a0001c0003t0004g0010
a0001c0003t0004g0012
a0001c0003t0004g0021
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0078
a0001c0003t0011g0096
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0009t0041g0198
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0005c0013t0021g0023
a0005c0013t0029g0111
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 69 HG00280.hp2
HG00544.hp1
HG00544.hp2
others(66): Show 
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00639.hp1
HG01167.hp1
HG01175.hp2
HG01192.hp1
HG01433.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG02004.hp1
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp2
HG02293.hp1
HG02523.hp2
HG02622.hp2
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02970.hp2
HG03041.hp1
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03516.hp1
HG03669.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp2
NA18906.hp2
NA18939.hp1
NA18944.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.831-12502dupT
c.831-12502dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8521176
chr1:8521176 C
C
 CAA
CAA
 17 a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0102
others(14): Show 
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0102
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0003t0004g0007
a0001c0003t0004g0011
a0001c0003t0004g0014
a0001c0003t0004g0019
a0001c0003t0004g0035
a0001c0003t0008g0085
a0001c0003t0011g0112
a0001c0019t0014g0119
a0002c0006t0003g0090
a0004c0012t0008g0137
a0004c0012t0008g0138
a0007c0020t0039g0197
 17 HG00597.hp1
HG00639.hp2
HG01358.hp2
others(14): Show 
HG00597.hp1
HG00639.hp2
HG01358.hp2
HG01496.hp1
HG01934.hp1
HG02165.hp1
HG02683.hp2
HG02976.hp2
HG03195.hp1
HG03195.hp2
HG03654.hp2
HG03688.hp2
HG06807.hp1
NA18946.hp1
NA18964.hp1
NA18973.hp1
NA18973.hp2
 intron_variant MODIFIER c.831-12503_831-1250
others(6): Show 
c.831-12503_831-12502dupTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8521176
chr1:8521176 C
C
 CAAAAAAA
others(6): Show 
CAAAAAAAAAAAAA
 1 a0001c0004t0014g0126
a0001c0004t0014g0126
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.831-12514_831-1250
others(17): Show 
c.831-12514_831-12502dupTTTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8521176
chr1:8521193 AG
AG
 A
A
 8 a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0056
others(5): Show 
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0003g0124
a0001c0015t0001g0009
a0003c0008t0001g0071
 8 HG00280.hp1
HG01167.hp2
HG01169.hp2
others(5): Show 
HG00280.hp1
HG01167.hp2
HG01169.hp2
HG02074.hp2
HG02155.hp1
HG02896.hp1
HG03041.hp2
HG03491.hp2
 intron_variant MODIFIER c.831-12519delC
c.831-12519delC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8521193
chr1:8521194 G
G
 A
A
 81 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(78): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0141
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0072
a0006c0025t0007g0025
 81 HG00140.hp1
HG00140.hp2
HG00544.hp2
others(78): Show 
HG00140.hp1
HG00140.hp2
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02080.hp1
HG02129.hp2
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03453.hp1
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.831-12519C>T
c.831-12519C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8521194
chr1:8521197 C
C
 G
G
 89 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(86): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0006c0025t0007g0025
 89 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(86): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03453.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.831-12522G>C
c.831-12522G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8521197
chr1:8521198 T
T
 A
A
 89 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(86): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0006c0025t0007g0025
 89 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(86): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03453.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.831-12523A>T
c.831-12523A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8521198
chr1:8521199 C
C
 A
A
 89 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(86): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0006c0025t0007g0025
 89 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(86): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03453.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.831-12524G>T
c.831-12524G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8521199
chr1:8521358 T
T
 C
C
 1 a0001c0001t0001g0064
a0001c0001t0001g0064
 1 HG00597.hp2
HG00597.hp2
 intron_variant MODIFIER c.831-12683A>G
c.831-12683A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8521358
chr1:8521729 T
T
 C
C
 1 a0001c0002t0005g0114
a0001c0002t0005g0114
 1 HG02004.hp1
HG02004.hp1
 intron_variant MODIFIER c.831-13054A>G
c.831-13054A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8521729
chr1:8521942 A
A
 G
G
 5 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0014g0126
others(2): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0014g0126
a0001c0005t0026g0127
a0001c0005t0034g0156
 5 HG02622.hp1
HG02965.hp2
HG03130.hp1
others(2): Show 
HG02622.hp1
HG02965.hp2
HG03130.hp1
HG03579.hp1
NA21309.hp1
 intron_variant MODIFIER c.831-13267T>C
c.831-13267T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8521942
chr1:8522093 C
C
 G
G
 1 a0001c0004t0040g0199
a0001c0004t0040g0199
 1 HG02970.hp2
HG02970.hp2
 intron_variant MODIFIER c.831-13418G>C
c.831-13418G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8522093
chr1:8522325 G
G
 A
A
 1 a0001c0005t0026g0127
a0001c0005t0026g0127
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.831-13650C>T
c.831-13650C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8522325
chr1:8522350 T
T
 C
C
 5 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0014g0126
others(2): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0014g0126
a0001c0005t0026g0127
a0001c0005t0034g0156
 5 HG02622.hp1
HG02965.hp2
HG03130.hp1
others(2): Show 
HG02622.hp1
HG02965.hp2
HG03130.hp1
HG03579.hp1
NA21309.hp1
 intron_variant MODIFIER c.831-13675A>G
c.831-13675A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8522350
chr1:8522558 A
A
 C
C
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.831-13883T>G
c.831-13883T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8522558
chr1:8522716 T
T
 C
C
 2 a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0153
a0001c0001t0006g0154
 2 HG03225.hp2
NA20300.hp2
HG03225.hp2
NA20300.hp2
 intron_variant MODIFIER c.831-14041A>G
c.831-14041A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8522716
chr1:8522776 G
G
 A
A
 1 a0001c0002t0002g0169
a0001c0002t0002g0169
 1 HG02132.hp2
HG02132.hp2
 intron_variant MODIFIER c.831-14101C>T
c.831-14101C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8522776
chr1:8522873 CA
CA
 C
C
 6 a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0010t0007g0026
others(3): Show 
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0006c0025t0007g0025
 6 HG02647.hp2
HG02809.hp2
HG02965.hp1
others(3): Show 
HG02647.hp2
HG02809.hp2
HG02965.hp1
HG03225.hp2
HG03540.hp2
NA20300.hp2
 intron_variant MODIFIER c.831-14199delT
c.831-14199delT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8522873
chr1:8523233 ACAAT
ACAAT
 A
A
 3 a0001c0001t0001g0067
a0001c0001t0003g0124
a0001c0002t0013g0053
a0001c0001t0001g0067
a0001c0001t0003g0124
a0001c0002t0013g0053
 3 HG03491.hp2
HG03831.hp2
NA20905.hp1
HG03491.hp2
HG03831.hp2
NA20905.hp1
 intron_variant MODIFIER c.831-14562_831-1455
others(8): Show 
c.831-14562_831-14559delATTG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8523233
chr1:8523234 C
C
 A
A
 40 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(37): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0004c0012t0008g0137
a0004c0012t0008g0138
a0008c0017t0003g0101
a0010c0027t0003g0086
 40 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(37): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02735.hp2
HG02976.hp2
HG03195.hp1
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.831-14559G>T
c.831-14559G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8523234
chr1:8523300 T
T
 C
C
 1 a0001c0002t0005g0110
a0001c0002t0005g0110
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.831-14625A>G
c.831-14625A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8523300
chr1:8523660 C
C
 CACAAGAA
others(3): Show 
CACAAGAAGTA
 106 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(103): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0002g0157
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0004t0010g0107
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0006c0025t0007g0025
a0007c0020t0039g0197
 106 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(103): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.831-14986_831-1498
others(14): Show 
c.831-14986_831-14985insTACTTCTTGT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8523660
chr1:8523665 A
A
 T
T
 106 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(103): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0002g0157
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0004t0010g0107
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0006c0025t0007g0025
a0007c0020t0039g0197
 106 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(103): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.831-14990T>A
c.831-14990T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8523665
chr1:8523666 T
T
 A
A
 106 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(103): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0002g0157
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0004t0010g0107
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0006c0025t0007g0025
a0007c0020t0039g0197
 106 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(103): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.831-14991A>T
c.831-14991A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8523666
chr1:8523667 T
T
 A
A
 106 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(103): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0002g0157
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0004t0010g0107
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0006c0025t0007g0025
a0007c0020t0039g0197
 106 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(103): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.831-14992A>T
c.831-14992A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8523667
chr1:8523668 A
A
 T
T
 106 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(103): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0002g0157
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0004t0010g0107
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0006c0025t0007g0025
a0007c0020t0039g0197
 106 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(103): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.831-14993T>A
c.831-14993T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8523668
chr1:8524611 T
T
 C
C
 1 a0001c0002t0002g0177
a0001c0002t0002g0177
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.831-15936A>G
c.831-15936A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8524611
chr1:8524946 T
T
 G
G
 1 a0001c0004t0010g0142
a0001c0004t0010g0142
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.830+16268A>C
c.830+16268A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8524946
chr1:8525368 G
G
 A
A
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.830+15846C>T
c.830+15846C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8525368
chr1:8525405 C
C
 T
T
 3 a0001c0002t0005g0110
a0005c0013t0021g0023
a0005c0013t0029g0111
a0001c0002t0005g0110
a0005c0013t0021g0023
a0005c0013t0029g0111
 3 HG02723.hp1
HG03041.hp1
HG03471.hp1
HG02723.hp1
HG03041.hp1
HG03471.hp1
 intron_variant MODIFIER c.830+15809G>A
c.830+15809G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8525405
chr1:8525491 G
G
 C
C
 1 a0001c0002t0005g0125
a0001c0002t0005g0125
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.830+15723C>G
c.830+15723C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8525491
chr1:8525601 C
C
 T
T
 1 a0001c0001t0001g0039
a0001c0001t0001g0039
 1 HG02004.hp2
HG02004.hp2
 intron_variant MODIFIER c.830+15613G>A
c.830+15613G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8525601
chr1:8526044 C
C
 T
T
 1 a0001c0001t0038g0195
a0001c0001t0038g0195
 1 HG01515.hp1
HG01515.hp1
 intron_variant MODIFIER c.830+15170G>A
c.830+15170G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8526044
chr1:8526274 G
G
 A
A
 162 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(159): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 162 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(159): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.830+14940C>T
c.830+14940C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8526274
chr1:8526293 CT
CT
 C
C
 133 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(130): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0002g0161
a0001c0002t0005g0114
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0014g0126
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0204
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0022t0008g0082
a0001c0024t0002g0182
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0010c0027t0003g0086
 133 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(130): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp1
HG03139.hp2
HG03195.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.830+14920delA
c.830+14920delA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8526293
chr1:8526293 CTT
CTT
 C
C
 8 a0001c0001t0001g0073
a0001c0001t0003g0095
a0001c0002t0005g0125
others(5): Show 
a0001c0001t0001g0073
a0001c0001t0003g0095
a0001c0002t0005g0125
a0001c0002t0006g0145
a0001c0003t0004g0011
a0001c0004t0010g0142
a0001c0005t0009g0202
a0001c0005t0009g0203
 8 HG02109.hp1
HG03139.hp1
HG03209.hp1
others(5): Show 
HG02109.hp1
HG03139.hp1
HG03209.hp1
HG03453.hp1
HG03491.hp1
HG03579.hp2
NA18946.hp1
NA20129.hp1
 intron_variant MODIFIER c.830+14919_830+1492
others(6): Show 
c.830+14919_830+14920delAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8526293
chr1:8526504 C
C
 A
A
 150 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(147): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0125
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0010c0027t0003g0086
 150 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(147): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.830+14710G>T
c.830+14710G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8526504
chr1:8526697 C
C
 A
A
 1 a0002c0006t0003g0089
a0002c0006t0003g0089
 1 HG02132.hp1
HG02132.hp1
 intron_variant MODIFIER c.830+14517G>T
c.830+14517G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8526697
chr1:8527612 T
T
 G
G
 1 a0002c0006t0003g0090
a0002c0006t0003g0090
 1 HG02165.hp1
HG02165.hp1
 intron_variant MODIFIER c.830+13602A>C
c.830+13602A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8527612
chr1:8527796 CA
CA
 C
C
 7 a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0100
others(4): Show 
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0100
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0006g0181
a0001c0003t0011g0096
 7 HG00609.hp1
HG01496.hp1
HG02074.hp1
others(4): Show 
HG00609.hp1
HG01496.hp1
HG02074.hp1
HG04115.hp1
NA18964.hp1
NA19007.hp2
NA19090.hp2
 intron_variant MODIFIER c.830+13417delT
c.830+13417delT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8527796
chr1:8527806 G
G
 A
A
 1 a0001c0003t0011g0108
a0001c0003t0011g0108
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.830+13408C>T
c.830+13408C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8527806
chr1:8527862 A
A
 G
G
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.830+13352T>C
c.830+13352T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8527862
chr1:8527981 A
A
 T
T
 5 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(2): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
 5 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(2): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.830+13233T>A
c.830+13233T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8527981
chr1:8528053 A
A
 G
G
 1 a0001c0018t0001g0005
a0001c0018t0001g0005
 1 HG03688.hp1
HG03688.hp1
 intron_variant MODIFIER c.830+13161T>C
c.830+13161T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8528053
chr1:8528326 T
T
 C
C
 1 a0001c0004t0010g0142
a0001c0004t0010g0142
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.830+12888A>G
c.830+12888A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8528326
chr1:8528410 AT
AT
 A
A
 40 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(37): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0004c0012t0008g0137
a0004c0012t0008g0138
a0008c0017t0003g0101
a0010c0027t0003g0086
 40 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(37): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02735.hp2
HG02976.hp2
HG03195.hp1
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.830+12803delA
c.830+12803delA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8528410
chr1:8528607 A
A
 G
G
 3 a0001c0001t0030g0143
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0001t0030g0143
a0001c0007t0003g0084
a0001c0007t0003g0098
 3 HG02155.hp2
NA18983.hp1
NA19000.hp1
HG02155.hp2
NA18983.hp1
NA19000.hp1
 intron_variant MODIFIER c.830+12607T>C
c.830+12607T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8528607
chr1:8528830 A
A
 G
G
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.830+12384T>C
c.830+12384T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8528830
chr1:8528923 T
T
 C
C
 20 a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
others(17): Show 
a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0004t0022g0121
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
a0009c0021t0003g0135
 20 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(17): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02970.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03516.hp1
HG06807.hp1
NA18906.hp2
 intron_variant MODIFIER c.830+12291A>G
c.830+12291A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8528923
chr1:8528993 C
C
 A
A
 1 a0001c0002t0002g0169
a0001c0002t0002g0169
 1 HG02132.hp2
HG02132.hp2
 intron_variant MODIFIER c.830+12221G>T
c.830+12221G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8528993
chr1:8529161 T
T
 C
C
 1 a0001c0001t0030g0143
a0001c0001t0030g0143
 1 HG02155.hp2
HG02155.hp2
 intron_variant MODIFIER c.830+12053A>G
c.830+12053A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8529161
chr1:8529287 C
C
 CTTCTTTT
others(3): Show 
CTTCTTTTTTT
 2 a0005c0013t0021g0023
a0005c0013t0029g0111
a0005c0013t0021g0023
a0005c0013t0029g0111
 2 HG03041.hp1
HG03471.hp1
HG03041.hp1
HG03471.hp1
 intron_variant MODIFIER c.830+11926_830+1192
others(14): Show 
c.830+11926_830+11927insAAAAAAAGAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8529287
chr1:8529287 C
C
 CTTCTTTT
others(8): Show 
CTTCTTTTTTTTTTTT
 1 a0001c0002t0005g0110
a0001c0002t0005g0110
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.830+11926_830+1192
others(19): Show 
c.830+11926_830+11927insAAAAAAAAAAAAGAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8529287
chr1:8529287 C
C
 CTTTTTTT
CTTTTTTT
 24 a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0102
others(21): Show 
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0102
a0001c0001t0003g0104
a0001c0001t0003g0117
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0006g0146
a0001c0007t0003g0084
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0004c0012t0008g0137
a0010c0027t0003g0086
 24 HG00280.hp2
HG00544.hp1
HG00609.hp1
others(21): Show 
HG00280.hp2
HG00544.hp1
HG00609.hp1
HG01496.hp1
HG01934.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG03195.hp1
HG03491.hp1
HG03688.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19002.hp2
NA19005.hp2
NA19043.hp1
NA19074.hp2
NA20752.hp2
 intron_variant MODIFIER c.830+11920_830+1192
others(11): Show 
c.830+11920_830+11926dupAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8529287
chr1:8529287 C
C
 CTTTTTTT
others(1): Show 
CTTTTTTTT
 7 a0001c0001t0003g0087
a0001c0001t0003g0095
a0001c0001t0003g0115
others(4): Show 
a0001c0001t0003g0087
a0001c0001t0003g0095
a0001c0001t0003g0115
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0002t0005g0114
a0001c0007t0003g0098
 7 HG00597.hp1
HG02004.hp1
HG02523.hp2
others(4): Show 
HG00597.hp1
HG02004.hp1
HG02523.hp2
HG03669.hp1
HG04115.hp1
NA19000.hp1
NA20129.hp1
 intron_variant MODIFIER c.830+11919_830+1192
others(12): Show 
c.830+11919_830+11926dupAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8529287
chr1:8529287 C
C
 CTTTTTTT
others(2): Show 
CTTTTTTTTT
 7 a0001c0001t0038g0195
a0001c0004t0005g0079
a0001c0004t0005g0083
others(4): Show 
a0001c0001t0038g0195
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0025g0080
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0204
 7 HG01433.hp2
HG01515.hp1
HG02109.hp1
others(4): Show 
HG01433.hp2
HG01515.hp1
HG02109.hp1
HG02257.hp2
HG02735.hp2
HG02818.hp1
HG04228.hp2
 intron_variant MODIFIER c.830+11918_830+1192
others(13): Show 
c.830+11918_830+11926dupAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8529287
chr1:8529287 C
C
 CTTTTTTT
others(3): Show 
CTTTTTTTTTT
 3 a0001c0005t0009g0200
a0001c0005t0009g0203
a0007c0020t0039g0197
a0001c0005t0009g0200
a0001c0005t0009g0203
a0007c0020t0039g0197
 3 HG03209.hp1
HG03516.hp1
HG06807.hp1
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.830+11917_830+1192
others(14): Show 
c.830+11917_830+11926dupAAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8529287
chr1:8529287 C
C
 CTTTTTTT
others(4): Show 
CTTTTTTTTTTT
 2 a0001c0004t0040g0199
a0001c0009t0041g0198
a0001c0004t0040g0199
a0001c0009t0041g0198
 2 HG02145.hp1
HG02970.hp2
HG02145.hp1
HG02970.hp2
 intron_variant MODIFIER c.830+11916_830+1192
others(15): Show 
c.830+11916_830+11926dupAAAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8529287
chr1:8529287 C
C
 CTTTTTTT
others(10): Show 
CTTTTTTTTTTTTTTTTT
 1 a0001c0004t0014g0126
a0001c0004t0014g0126
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.830+11910_830+1192
others(21): Show 
c.830+11910_830+11926dupAAAAAAAAAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8529287
chr1:8529287 C
C
 CTTTTTTT
others(16): Show 
CTTTTTTTTTTTTTTTTTTTTTTT
 1 a0001c0005t0026g0127
a0001c0005t0026g0127
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.830+11926_830+1192
others(27): Show 
c.830+11926_830+11927insAAAAAAAAAAAAAAAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8529287
chr1:8529287 C
C
 T
T
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.830+11927G>A
c.830+11927G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8529287
chr1:8529287 CTTT
CTTT
 C
C
 87 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(84): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
 87 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(84): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp2
HG03453.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.830+11924_830+1192
others(7): Show 
c.830+11924_830+11926delAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8529287
chr1:8529364 A
A
 T
T
 1 a0001c0003t0004g0068
a0001c0003t0004g0068
 1 HG02258.hp2
HG02258.hp2
 intron_variant MODIFIER c.830+11850T>A
c.830+11850T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8529364
chr1:8529465 AT
AT
 A
A
 5 a0001c0001t0001g0055
a0001c0001t0003g0102
a0001c0002t0005g0110
others(2): Show 
a0001c0001t0001g0055
a0001c0001t0003g0102
a0001c0002t0005g0110
a0005c0013t0021g0023
a0005c0013t0029g0111
 5 HG02723.hp1
HG03041.hp1
HG03471.hp1
others(2): Show 
HG02723.hp1
HG03041.hp1
HG03471.hp1
HG03688.hp2
HG04199.hp2
 intron_variant MODIFIER c.830+11748delA
c.830+11748delA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8529465
chr1:8529465 ATT
ATT
 A
A
 145 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(142): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0114
a0001c0002t0005g0125
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0010c0027t0003g0086
 145 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(142): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.830+11747_830+1174
others(6): Show 
c.830+11747_830+11748delAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8529465
chr1:8529551 C
C
 T
T
 1 a0001c0001t0001g0073
a0001c0001t0001g0073
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.830+11663G>A
c.830+11663G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8529551
chr1:8529552 G
G
 A
A
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.830+11662C>T
c.830+11662C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8529552
chr1:8529580 G
G
 A
A
 1 a0001c0004t0010g0120
a0001c0004t0010g0120
 1 HG01167.hp1
HG01167.hp1
 intron_variant MODIFIER c.830+11634C>T
c.830+11634C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8529580
chr1:8529640 G
G
 C
C
 2 a0005c0013t0021g0023
a0005c0013t0029g0111
a0005c0013t0021g0023
a0005c0013t0029g0111
 2 HG03041.hp1
HG03471.hp1
HG03041.hp1
HG03471.hp1
 intron_variant MODIFIER c.830+11574C>G
c.830+11574C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8529640
chr1:8529777 G
G
 A
A
 1 a0001c0014t0002g0191
a0001c0014t0002g0191
 1 HG01361.hp1
HG01361.hp1
 intron_variant MODIFIER c.830+11437C>T
c.830+11437C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8529777
chr1:8529792 T
T
 C
C
 5 a0001c0001t0001g0074
a0003c0008t0001g0006
a0003c0008t0001g0031
others(2): Show 
a0001c0001t0001g0074
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
 5 HG02647.hp1
HG02970.hp1
HG02976.hp1
others(2): Show 
HG02647.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03139.hp2
 intron_variant MODIFIER c.830+11422A>G
c.830+11422A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8529792
chr1:8529801 C
C
 G
G
 1 a0001c0002t0002g0164
a0001c0002t0002g0164
 1 HG02129.hp1
HG02129.hp1
 intron_variant MODIFIER c.830+11413G>C
c.830+11413G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8529801
chr1:8529985 G
G
 A
A
 4 a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
others(1): Show 
a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0005t0026g0127
 4 HG02559.hp1
HG02965.hp2
HG03579.hp2
others(1): Show 
HG02559.hp1
HG02965.hp2
HG03579.hp2
NA21309.hp1
 intron_variant MODIFIER c.830+11229C>T
c.830+11229C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8529985
chr1:8530368 C
C
 G
G
 150 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(147): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0125
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0010c0027t0003g0086
 150 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(147): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.830+10846G>C
c.830+10846G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8530368
chr1:8530512 G
G
 A
A
 4 a0001c0002t0005g0110
a0001c0004t0003g0109
a0005c0013t0021g0023
others(1): Show 
a0001c0002t0005g0110
a0001c0004t0003g0109
a0005c0013t0021g0023
a0005c0013t0029g0111
 4 HG02723.hp1
HG03041.hp1
HG03471.hp1
others(1): Show 
HG02723.hp1
HG03041.hp1
HG03471.hp1
NA21309.hp2
 intron_variant MODIFIER c.830+10702C>T
c.830+10702C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8530512
chr1:8530525 A
A
 C
C
 3 a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
 3 HG02145.hp1
HG02970.hp2
HG06807.hp1
HG02145.hp1
HG02970.hp2
HG06807.hp1
 intron_variant MODIFIER c.830+10689T>G
c.830+10689T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8530525
chr1:8530679 C
C
 CT
CT
 64 a0001c0001t0001g0033
a0001c0001t0001g0038
a0001c0001t0001g0045
others(61): Show 
a0001c0001t0001g0033
a0001c0001t0001g0038
a0001c0001t0001g0045
a0001c0001t0001g0065
a0001c0001t0003g0122
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0036g0194
a0001c0002t0002g0148
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0136
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0014
a0001c0003t0004g0019
a0001c0003t0004g0035
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0022
a0001c0004t0001g0003
a0001c0004t0010g0120
a0001c0004t0022g0121
a0001c0007t0001g0008
a0001c0014t0002g0191
a0001c0023t0002g0175
a0002c0026t0008g0140
a0009c0021t0003g0135
 64 HG00639.hp1
HG00639.hp2
HG00741.hp1
others(61): Show 
HG00639.hp1
HG00639.hp2
HG00741.hp1
HG01167.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp2
HG01255.hp2
HG01261.hp2
HG01358.hp2
HG01361.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp2
HG02257.hp1
HG02293.hp2
HG02451.hp1
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02683.hp1
HG02683.hp2
HG02735.hp1
HG02809.hp1
HG02886.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03516.hp2
HG03540.hp1
HG03654.hp1
HG03831.hp1
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04228.hp1
HG06807.hp2
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18946.hp1
NA18946.hp2
NA18967.hp2
NA18973.hp1
NA18985.hp2
NA18993.hp1
NA19002.hp1
NA19043.hp2
NA19070.hp1
NA19085.hp1
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.830+10534dupA
c.830+10534dupA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8530679
chr1:8530679 C
C
 CTT
CTT
 15 a0001c0001t0001g0073
a0001c0002t0002g0149
a0001c0002t0002g0177
others(12): Show 
a0001c0001t0001g0073
a0001c0002t0002g0149
a0001c0002t0002g0177
a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0005g0129
a0001c0002t0005g0134
a0001c0002t0035g0160
a0001c0003t0004g0007
a0001c0003t0004g0012
a0001c0003t0012g0018
a0001c0004t0014g0126
a0001c0005t0026g0127
a0001c0007t0004g0047
a0001c0024t0002g0182
 15 HG00544.hp2
HG01175.hp1
HG01358.hp1
others(12): Show 
HG00544.hp2
HG01175.hp1
HG01358.hp1
HG02602.hp1
HG02622.hp2
HG02818.hp2
HG02896.hp2
HG02965.hp2
HG03139.hp1
HG03209.hp2
HG03225.hp1
HG03654.hp2
HG03669.hp2
NA19070.hp2
NA21309.hp1
 intron_variant MODIFIER c.830+10533_830+1053
others(6): Show 
c.830+10533_830+10534dupAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8530679
chr1:8530679 CTTT
CTTT
 C
C
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.830+10532_830+1053
others(7): Show 
c.830+10532_830+10534delAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8530679
chr1:8530685 T
T
 TTTTC
TTTTC
 37 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(34): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0004c0012t0008g0137
a0004c0012t0008g0138
a0008c0017t0003g0101
a0010c0027t0003g0086
 37 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(34): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02523.hp2
HG02735.hp2
HG02976.hp2
HG03195.hp1
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.830+10528_830+1052
others(8): Show 
c.830+10528_830+10529insGAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8530685
chr1:8530685 T
T
 TTTTTTTT
others(3): Show 
TTTTTTTTTTC
 1 a0001c0004t0003g0109
a0001c0004t0003g0109
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.830+10528_830+1052
others(14): Show 
c.830+10528_830+10529insGAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8530685
chr1:8530696 T
T
 TG
TG
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.830+10517_830+1051
others(5): Show 
c.830+10517_830+10518insC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8530696
chr1:8530715 C
C
 T
T
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.830+10499G>A
c.830+10499G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8530715
chr1:8530732 C
C
 T
T
 1 a0001c0003t0004g0017
a0001c0003t0004g0017
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.830+10482G>A
c.830+10482G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8530732
chr1:8530740 G
G
 A
A
 4 a0001c0002t0005g0110
a0001c0004t0003g0109
a0005c0013t0021g0023
others(1): Show 
a0001c0002t0005g0110
a0001c0004t0003g0109
a0005c0013t0021g0023
a0005c0013t0029g0111
 4 HG02723.hp1
HG03041.hp1
HG03471.hp1
others(1): Show 
HG02723.hp1
HG03041.hp1
HG03471.hp1
NA21309.hp2
 intron_variant MODIFIER c.830+10474C>T
c.830+10474C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8530740
chr1:8530816 C
C
 T
T
 1 a0001c0001t0001g0077
a0001c0001t0001g0077
 1 NA19007.hp1
NA19007.hp1
 intron_variant MODIFIER c.830+10398G>A
c.830+10398G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8530816
chr1:8530817 G
G
 A
A
 5 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(2): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
 5 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(2): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.830+10397C>T
c.830+10397C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8530817
chr1:8530841 G
G
 A
A
 2 a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0041
a0001c0003t0004g0042
 2 NA18939.hp1
NA18993.hp1
NA18939.hp1
NA18993.hp1
 intron_variant MODIFIER c.830+10373C>T
c.830+10373C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8530841
chr1:8530929 G
G
 A
A
 1 a0001c0002t0002g0167
a0001c0002t0002g0167
 1 HG02735.hp1
HG02735.hp1
 intron_variant MODIFIER c.830+10285C>T
c.830+10285C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8530929
chr1:8531007 T
T
 TTCTA
TTCTA
 24 a0001c0001t0001g0046
a0001c0001t0001g0050
a0001c0001t0001g0051
others(21): Show 
a0001c0001t0001g0046
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0076
a0001c0001t0003g0088
a0001c0001t0003g0124
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0038g0195
a0001c0002t0002g0151
a0001c0002t0002g0163
a0001c0002t0002g0168
a0001c0002t0002g0180
a0001c0002t0033g0186
a0001c0003t0004g0010
a0001c0003t0015g0147
a0001c0004t0005g0123
a0001c0004t0025g0080
a0001c0010t0007g0034
a0001c0011t0007g0029
a0001c0024t0002g0182
a0002c0006t0003g0089
a0010c0027t0003g0086
 24 HG00544.hp1
HG00741.hp1
HG01261.hp2
others(21): Show 
HG00544.hp1
HG00741.hp1
HG01261.hp2
HG01496.hp1
HG01515.hp1
HG02080.hp2
HG02129.hp2
HG02132.hp1
HG02155.hp2
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02602.hp2
HG02896.hp2
HG02965.hp1
HG03491.hp2
HG04228.hp2
NA18985.hp1
NA18993.hp2
NA19005.hp1
NA19090.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.830+10203_830+1020
others(8): Show 
c.830+10203_830+10206dupTAGA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8531007
chr1:8531007 T
T
 TTCTATCT
others(1): Show 
TTCTATCTA
 4 a0001c0001t0001g0048
a0001c0001t0001g0056
a0001c0001t0001g0057
others(1): Show 
a0001c0001t0001g0048
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0002t0002g0173
 4 HG01167.hp2
HG01169.hp2
HG04199.hp1
others(1): Show 
HG01167.hp2
HG01169.hp2
HG04199.hp1
NA19085.hp2
 intron_variant MODIFIER c.830+10199_830+1020
others(12): Show 
c.830+10199_830+10206dupTAGATAGA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8531007
chr1:8531007 TTCTA
TTCTA
 T
T
 63 a0001c0001t0001g0013
a0001c0001t0001g0033
a0001c0001t0001g0045
others(60): Show 
a0001c0001t0001g0013
a0001c0001t0001g0033
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0069
a0001c0001t0001g0077
a0001c0001t0003g0100
a0001c0001t0003g0103
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0141
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0002t0002g0148
a0001c0002t0002g0150
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0164
a0001c0002t0002g0166
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0187
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0130
a0001c0002t0005g0132
a0001c0002t0032g0155
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0021
a0001c0003t0004g0036
a0001c0003t0008g0085
a0001c0003t0012g0018
a0001c0003t0017g0032
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0027g0106
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0026g0127
a0001c0007t0004g0047
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0094
a0002c0026t0008g0140
a0006c0025t0007g0025
 63 HG00280.hp2
HG00544.hp2
HG00597.hp1
others(60): Show 
HG00280.hp2
HG00544.hp2
HG00597.hp1
HG00639.hp1
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01358.hp1
HG01358.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp1
HG01884.hp2
HG01934.hp1
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02257.hp1
HG02257.hp2
HG02293.hp1
HG02293.hp2
HG02486.hp2
HG02559.hp2
HG02622.hp2
HG02683.hp1
HG02698.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp2
HG02965.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04228.hp1
NA18946.hp1
NA18967.hp2
NA18973.hp2
NA18983.hp2
NA19000.hp2
NA19002.hp1
NA19007.hp1
NA19007.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19090.hp2
NA20752.hp1
NA21309.hp1
 intron_variant MODIFIER c.830+10203_830+1020
others(8): Show 
c.830+10203_830+10206delTAGA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8531007
chr1:8531007 TTCTATCT
others(1): Show 
TTCTATCTA
 T
T
 34 a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0043
others(31): Show 
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0063
a0001c0001t0003g0122
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0002t0002g0157
a0001c0002t0002g0167
a0001c0002t0002g0183
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0005g0128
a0001c0002t0005g0131
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0003t0004g0035
a0001c0003t0004g0041
a0001c0003t0004g0068
a0001c0004t0001g0003
a0001c0005t0009g0204
a0001c0005t0034g0156
a0001c0011t0007g0028
a0002c0006t0003g0139
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0009c0021t0003g0135
 34 HG00140.hp2
HG00280.hp1
HG00639.hp2
others(31): Show 
HG00140.hp2
HG00280.hp1
HG00639.hp2
HG01168.hp1
HG01169.hp1
HG01175.hp2
HG01261.hp1
HG01361.hp2
HG01517.hp2
HG01884.hp1
HG01934.hp2
HG02074.hp2
HG02145.hp2
HG02155.hp1
HG02258.hp2
HG02451.hp2
HG02622.hp1
HG02647.hp1
HG02698.hp2
HG02735.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02970.hp1
HG02976.hp2
HG03130.hp1
HG03139.hp2
HG03195.hp1
HG03471.hp2
HG04184.hp2
NA18906.hp1
NA18939.hp1
NA18985.hp2
NA20300.hp2
 intron_variant MODIFIER c.830+10199_830+1020
others(12): Show 
c.830+10199_830+10206delTAGATAGA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8531007
chr1:8531007 TTCTATCT
others(5): Show 
TTCTATCTATCTA
 T
T
 6 a0001c0001t0001g0039
a0001c0001t0006g0153
a0001c0002t0005g0129
others(3): Show 
a0001c0001t0001g0039
a0001c0001t0006g0153
a0001c0002t0005g0129
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0010t0007g0026
 6 HG01167.hp1
HG02004.hp2
HG02647.hp2
others(3): Show 
HG01167.hp1
HG02004.hp2
HG02647.hp2
HG03225.hp1
HG03225.hp2
NA18906.hp2
 intron_variant MODIFIER c.830+10195_830+1020
others(16): Show 
c.830+10195_830+10206delTAGATAGATAGA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8531007
chr1:8531007 TTCTATCT
others(9): Show 
TTCTATCTATCTATCTA
 T
T
 3 a0001c0001t0001g0004
a0001c0002t0005g0125
a0001c0004t0040g0199
a0001c0001t0001g0004
a0001c0002t0005g0125
a0001c0004t0040g0199
 3 HG02970.hp2
HG03453.hp1
NA19074.hp1
HG02970.hp2
HG03453.hp1
NA19074.hp1
 intron_variant MODIFIER c.830+10191_830+1020
others(20): Show 
c.830+10191_830+10206delTAGATAGATAGATAGA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8531007
chr1:8531007 TTCTATCT
others(13): Show 
TTCTATCTATCTATCTATCTA
 T
T
 2 a0001c0003t0004g0042
a0001c0003t0011g0096
a0001c0003t0004g0042
a0001c0003t0011g0096
 2 HG02074.hp1
NA18993.hp1
HG02074.hp1
NA18993.hp1
 intron_variant MODIFIER c.830+10187_830+1020
others(24): Show 
c.830+10187_830+10206delTAGATAGATAGATAGATAGA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8531007
chr1:8531007 TTCTATCT
others(25): Show 
TTCTATCTATCTATCTATCTATCTATCTATCTA
 T
T
 4 a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0005t0019g0030
others(1): Show 
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0005t0019g0030
a0001c0016t0020g0001
 4 HG02683.hp2
HG03130.hp2
HG06807.hp2
others(1): Show 
HG02683.hp2
HG03130.hp2
HG06807.hp2
NA20129.hp2
 intron_variant MODIFIER c.830+10175_830+1020
others(36): Show 
c.830+10175_830+10206delTAGATAGATAGATAGATAGATAGATA
GATAGA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8531007
chr1:8531060 TCTATCTA
others(5): Show 
TCTATCTATCTAA
 T
T
 1 a0005c0013t0021g0023
a0005c0013t0021g0023
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.830+10142_830+1015
others(16): Show 
c.830+10142_830+10153delTTAGATAGATAG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8531060
chr1:8531064 TCTATCTA
others(1): Show 
TCTATCTAA
 T
T
 2 a0001c0002t0002g0174
a0001c0004t0003g0109
a0001c0002t0002g0174
a0001c0004t0003g0109
 2 NA18946.hp2
NA21309.hp2
NA18946.hp2
NA21309.hp2
 intron_variant MODIFIER c.830+10142_830+1014
others(12): Show 
c.830+10142_830+10149delTTAGATAG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8531064
chr1:8531066 TATCTAAC
others(17): Show 
TATCTAACTTTCTATCTATCTGTCC
 T
T
 1 a0001c0002t0006g0145
a0001c0002t0006g0145
 1 HG03491.hp1
HG03491.hp1
 intron_variant MODIFIER c.830+10124_830+1014
others(28): Show 
c.830+10124_830+10147delGGACAGATAGATAGAAAGTTAGAT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8531066
chr1:8531072 A
A
 T
T
 1 a0005c0013t0029g0111
a0005c0013t0029g0111
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.830+10142T>A
c.830+10142T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8531072
chr1:8531092 T
T
 A
A
 1 a0001c0002t0006g0145
a0001c0002t0006g0145
 1 HG03491.hp1
HG03491.hp1
 intron_variant MODIFIER c.830+10122A>T
c.830+10122A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8531092
chr1:8531103 A
A
 G
G
 89 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(86): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0006c0025t0007g0025
 89 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(86): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03453.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.830+10111T>C
c.830+10111T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8531103
chr1:8531107 G
G
 GTCCA
GTCCA
 15 a0001c0001t0001g0067
a0001c0001t0003g0124
a0001c0002t0013g0053
others(12): Show 
a0001c0001t0001g0067
a0001c0001t0003g0124
a0001c0002t0013g0053
a0001c0004t0010g0120
a0001c0004t0022g0121
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0002c0006t0024g0081
a0007c0020t0039g0197
a0010c0027t0003g0086
 15 HG01167.hp1
HG02109.hp1
HG02145.hp1
others(12): Show 
HG01167.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03491.hp2
HG03516.hp1
HG03831.hp2
HG06807.hp1
NA18985.hp1
NA19005.hp2
NA20905.hp1
 intron_variant MODIFIER c.830+10103_830+1010
others(8): Show 
c.830+10103_830+10106dupTGGA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8531107
chr1:8531128 T
T
 C
C
 1 a0001c0002t0033g0186
a0001c0002t0033g0186
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.830+10086A>G
c.830+10086A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8531128
chr1:8531308 T
T
 G
G
 1 a0001c0004t0010g0142
a0001c0004t0010g0142
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.830+9906A>C
c.830+9906A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8531308
chr1:8531338 T
T
 C
C
 97 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(94): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0006c0025t0007g0025
a0007c0020t0039g0197
 97 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(94): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.830+9876A>G
c.830+9876A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8531338
chr1:8531589 T
T
 C
C
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.830+9625A>G
c.830+9625A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8531589
chr1:8532202 C
C
 T
T
 4 a0001c0002t0005g0110
a0001c0004t0003g0109
a0005c0013t0021g0023
others(1): Show 
a0001c0002t0005g0110
a0001c0004t0003g0109
a0005c0013t0021g0023
a0005c0013t0029g0111
 4 HG02723.hp1
HG03041.hp1
HG03471.hp1
others(1): Show 
HG02723.hp1
HG03041.hp1
HG03471.hp1
NA21309.hp2
 intron_variant MODIFIER c.830+9012G>A
c.830+9012G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8532202
chr1:8532418 T
T
 TG
TG
 49 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(46): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0002g0157
a0001c0002t0013g0053
a0001c0002t0032g0155
a0001c0003t0004g0021
a0001c0003t0004g0036
a0001c0003t0004g0078
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0005t0034g0156
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0018t0001g0005
 49 HG00140.hp2
HG00280.hp1
HG00609.hp2
others(46): Show 
HG00140.hp2
HG00280.hp1
HG00609.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01261.hp1
HG01433.hp1
HG01496.hp2
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02486.hp2
HG02523.hp1
HG02622.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG03130.hp1
HG03139.hp1
HG03491.hp2
HG03579.hp1
HG03688.hp1
HG03831.hp2
HG04115.hp1
HG04199.hp2
NA18944.hp1
NA18964.hp2
NA18967.hp1
NA18983.hp2
NA18985.hp2
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.830+8795dupC
c.830+8795dupC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8532418
chr1:8532884 T
T
 C
C
 162 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(159): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 162 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(159): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.830+8330A>G
c.830+8330A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8532884
chr1:8533184 CA
CA
 C
C
 49 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(46): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0102
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0006g0145
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0003t0008g0085
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0008c0017t0003g0101
a0010c0027t0003g0086
 49 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(46): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02723.hp1
HG02735.hp2
HG02886.hp2
HG02965.hp2
HG02976.hp2
HG03041.hp1
HG03130.hp1
HG03195.hp1
HG03453.hp2
HG03471.hp1
HG03491.hp1
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp1
NA19074.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.830+8029delT
c.830+8029delT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8533184
chr1:8533348 T
T
 C
C
 3 a0001c0001t0001g0067
a0001c0001t0003g0124
a0001c0002t0013g0053
a0001c0001t0001g0067
a0001c0001t0003g0124
a0001c0002t0013g0053
 3 HG03491.hp2
HG03831.hp2
NA20905.hp1
HG03491.hp2
HG03831.hp2
NA20905.hp1
 intron_variant MODIFIER c.830+7866A>G
c.830+7866A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8533348
chr1:8533513 A
A
 C
C
 1 a0001c0007t0003g0099
a0001c0007t0003g0099
 1 NA20752.hp2
NA20752.hp2
 intron_variant MODIFIER c.830+7701T>G
c.830+7701T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8533513
chr1:8533573 T
T
 C
C
 1 a0001c0002t0002g0161
a0001c0002t0002g0161
 1 HG02027.hp2
HG02027.hp2
 intron_variant MODIFIER c.830+7641A>G
c.830+7641A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8533573
chr1:8533593 A
A
 G
G
 1 a0001c0003t0012g0022
a0001c0003t0012g0022
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.830+7621T>C
c.830+7621T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8533593
chr1:8533632 A
A
 C
C
 1 a0002c0006t0003g0089
a0002c0006t0003g0089
 1 HG02132.hp1
HG02132.hp1
 intron_variant MODIFIER c.830+7582T>G
c.830+7582T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8533632
chr1:8534451 G
G
 A
A
 4 a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
others(1): Show 
a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0005t0026g0127
 4 HG02559.hp1
HG02965.hp2
HG03579.hp2
others(1): Show 
HG02559.hp1
HG02965.hp2
HG03579.hp2
NA21309.hp1
 intron_variant MODIFIER c.830+6763C>T
c.830+6763C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8534451
chr1:8534720 A
A
 T
T
 1 a0001c0001t0001g0037
a0001c0001t0001g0037
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.830+6494T>A
c.830+6494T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8534720
chr1:8534908 C
C
 T
T
 202 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(199): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0157
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0002t0035g0160
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0014t0002g0191
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0001c0023t0002g0175
a0001c0024t0002g0182
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 202 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(199): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp1
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.830+6306G>A
c.830+6306G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8534908
chr1:8535267 T
T
 C
C
 3 a0001c0010t0007g0026
a0001c0010t0013g0024
a0006c0025t0007g0025
a0001c0010t0007g0026
a0001c0010t0013g0024
a0006c0025t0007g0025
 3 HG02647.hp2
HG02809.hp2
HG03540.hp2
HG02647.hp2
HG02809.hp2
HG03540.hp2
 intron_variant MODIFIER c.830+5947A>G
c.830+5947A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8535267
chr1:8535680 C
C
 G
G
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.830+5534G>C
c.830+5534G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8535680
chr1:8535699 G
G
 C
C
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.830+5515C>G
c.830+5515C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8535699
chr1:8535748 CT
CT
 C
C
 53 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(50): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0006g0145
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0008c0017t0003g0101
a0010c0027t0003g0086
 53 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(50): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02723.hp1
HG02735.hp2
HG02886.hp2
HG02965.hp2
HG02976.hp2
HG03041.hp1
HG03130.hp1
HG03195.hp1
HG03453.hp2
HG03471.hp1
HG03491.hp1
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.830+5465delA
c.830+5465delA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8535748
chr1:8535806 G
G
 A
A
 2 a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0004g0016
a0001c0009t0004g0020
 2 HG01168.hp2
HG01255.hp1
HG01168.hp2
HG01255.hp1
 intron_variant MODIFIER c.830+5408C>T
c.830+5408C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8535806
chr1:8535835 T
T
 C
C
 150 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(147): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0125
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0010c0027t0003g0086
 150 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(147): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.830+5379A>G
c.830+5379A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8535835
chr1:8536103 T
T
 C
C
 1 a0002c0006t0003g0090
a0002c0006t0003g0090
 1 HG02165.hp1
HG02165.hp1
 intron_variant MODIFIER c.830+5111A>G
c.830+5111A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8536103
chr1:8536104 C
C
 CA
CA
 55 a0001c0001t0001g0069
a0001c0001t0001g0074
a0001c0001t0003g0087
others(52): Show 
a0001c0001t0001g0069
a0001c0001t0001g0074
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0002g0166
a0001c0002t0005g0114
a0001c0002t0006g0145
a0001c0002t0032g0155
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0034g0156
a0001c0007t0003g0084
a0001c0007t0003g0099
a0001c0009t0041g0198
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0097
a0002c0006t0024g0081
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0007c0020t0039g0197
a0008c0017t0003g0101
a0010c0027t0003g0086
 55 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(52): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02109.hp1
HG02132.hp1
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp2
HG02293.hp1
HG02523.hp2
HG02622.hp1
HG02647.hp1
HG02735.hp2
HG02818.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03491.hp1
HG03516.hp1
HG03579.hp1
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
HG06807.hp1
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp2
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19070.hp1
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.830+5109dupT
c.830+5109dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8536104
chr1:8536122 T
T
 A
A
 1 a0001c0005t0009g0203
a0001c0005t0009g0203
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.830+5092A>T
c.830+5092A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8536122
chr1:8536123 C
C
 T
T
 150 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(147): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0125
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0010c0027t0003g0086
 150 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(147): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.830+5091G>A
c.830+5091G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8536123
chr1:8536276 G
G
 A
A
 44 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(41): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0008c0017t0003g0101
a0010c0027t0003g0086
 44 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(41): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02723.hp1
HG02735.hp2
HG02976.hp2
HG03041.hp1
HG03195.hp1
HG03471.hp1
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.830+4938C>T
c.830+4938C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8536276
chr1:8536683 T
T
 G
G
 7 a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0050
others(4): Show 
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0065
a0001c0001t0036g0194
a0001c0007t0004g0044
a0001c0007t0004g0047
 7 HG02080.hp1
HG02155.hp1
NA18964.hp2
others(4): Show 
HG02080.hp1
HG02155.hp1
NA18964.hp2
NA18985.hp2
NA19002.hp1
NA19005.hp1
NA19070.hp2
 intron_variant MODIFIER c.830+4531A>C
c.830+4531A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8536683
chr1:8536834 T
T
 A
A
 97 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(94): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0006c0025t0007g0025
a0007c0020t0039g0197
 97 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(94): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.830+4380A>T
c.830+4380A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8536834
chr1:8536933 C
C
 T
T
 1 a0001c0004t0014g0126
a0001c0004t0014g0126
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.830+4281G>A
c.830+4281G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8536933
chr1:8536983 G
G
 A
A
 89 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(86): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0006c0025t0007g0025
 89 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(86): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03453.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.830+4231C>T
c.830+4231C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8536983
chr1:8537049 A
A
 T
T
 97 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(94): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0006c0025t0007g0025
a0007c0020t0039g0197
 97 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(94): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.830+4165T>A
c.830+4165T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8537049
chr1:8537073 G
G
 A
A
 1 a0001c0001t0001g0039
a0001c0001t0001g0039
 1 HG02004.hp2
HG02004.hp2
 intron_variant MODIFIER c.830+4141C>T
c.830+4141C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8537073
chr1:8537082 C
C
 T
T
 1 a0001c0003t0012g0018
a0001c0003t0012g0018
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.830+4132G>A
c.830+4132G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8537082
chr1:8537361 C
C
 T
T
 2 a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0188
a0001c0002t0002g0189
 2 HG01168.hp1
HG01169.hp1
HG01168.hp1
HG01169.hp1
 intron_variant MODIFIER c.830+3853G>A
c.830+3853G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8537361
chr1:8537525 A
A
 G
G
 1 a0001c0002t0018g0002
a0001c0002t0018g0002
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.830+3689T>C
c.830+3689T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8537525
chr1:8537932 C
C
 A
A
 1 a0001c0010t0013g0024
a0001c0010t0013g0024
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.830+3282G>T
c.830+3282G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8537932
chr1:8537946 C
C
 T
T
 45 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(42): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0114
a0001c0002t0006g0145
a0001c0002t0032g0155
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0004c0012t0008g0137
a0004c0012t0008g0138
a0008c0017t0003g0101
a0010c0027t0003g0086
 45 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(42): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02622.hp1
HG02735.hp2
HG02886.hp2
HG02976.hp2
HG03130.hp1
HG03195.hp1
HG03453.hp2
HG03491.hp1
HG03579.hp1
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.830+3268G>A
c.830+3268G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8537946
chr1:8537958 C
C
 A
A
 2 a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0153
a0001c0001t0006g0154
 2 HG03225.hp2
NA20300.hp2
HG03225.hp2
NA20300.hp2
 intron_variant MODIFIER c.830+3256G>T
c.830+3256G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8537958
chr1:8538068 G
G
 A
A
 40 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(37): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0004c0012t0008g0137
a0004c0012t0008g0138
a0008c0017t0003g0101
a0010c0027t0003g0086
 40 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(37): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02735.hp2
HG02976.hp2
HG03195.hp1
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.830+3146C>T
c.830+3146C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8538068
chr1:8538126 T
T
 C
C
 4 a0001c0002t0002g0148
a0001c0002t0002g0150
a0001c0002t0002g0158
others(1): Show 
a0001c0002t0002g0148
a0001c0002t0002g0150
a0001c0002t0002g0158
a0001c0002t0002g0159
 4 HG01981.hp2
HG03654.hp1
HG04184.hp1
others(1): Show 
HG01981.hp2
HG03654.hp1
HG04184.hp1
NA20752.hp1
 intron_variant MODIFIER c.830+3088A>G
c.830+3088A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8538126
chr1:8538366 G
G
 A
A
 1 a0001c0001t0003g0087
a0001c0001t0003g0087
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.830+2848C>T
c.830+2848C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8538366
chr1:8538849 T
T
 C
C
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.830+2365A>G
c.830+2365A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8538849
chr1:8538930 A
A
 G
G
 1 a0001c0002t0005g0125
a0001c0002t0005g0125
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.830+2284T>C
c.830+2284T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8538930
chr1:8539268 A
A
 G
G
 1 a0001c0002t0002g0192
a0001c0002t0002g0192
 1 HG01175.hp1
HG01175.hp1
 intron_variant MODIFIER c.830+1946T>C
c.830+1946T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8539268
chr1:8539303 A
A
 C
C
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.830+1911T>G
c.830+1911T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8539303
chr1:8539402 CT
CT
 C
C
 107 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(104): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0002g0157
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0004t0010g0107
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0006c0025t0007g0025
a0007c0020t0039g0197
 107 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(104): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.830+1811delA
c.830+1811delA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8539402
chr1:8539528 C
C
 A
A
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.830+1686G>T
c.830+1686G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8539528
chr1:8539551 G
G
 T
T
 1 a0001c0002t0005g0110
a0001c0002t0005g0110
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.830+1663C>A
c.830+1663C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8539551
chr1:8539607 C
C
 T
T
 1 a0001c0004t0010g0142
a0001c0004t0010g0142
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.830+1607G>A
c.830+1607G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8539607
chr1:8539803 T
T
 C
C
 3 a0001c0002t0002g0148
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0148
a0001c0002t0002g0158
a0001c0002t0002g0159
 3 HG03654.hp1
HG04184.hp1
NA20752.hp1
HG03654.hp1
HG04184.hp1
NA20752.hp1
 intron_variant MODIFIER c.830+1411A>G
c.830+1411A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8539803
chr1:8539830 G
G
 A
A
 4 a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
others(1): Show 
a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0005t0026g0127
 4 HG02559.hp1
HG02965.hp2
HG03579.hp2
others(1): Show 
HG02559.hp1
HG02965.hp2
HG03579.hp2
NA21309.hp1
 intron_variant MODIFIER c.830+1384C>T
c.830+1384C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8539830
chr1:8540076 A
A
 ATTAT
ATTAT
 2 a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0056
a0001c0001t0001g0057
 2 HG01167.hp2
HG01169.hp2
HG01167.hp2
HG01169.hp2
 intron_variant MODIFIER c.830+1134_830+1137d
others(6): Show 
c.830+1134_830+1137dupATAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8540076
chr1:8540133 G
G
 A
A
 96 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(93): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0006c0025t0007g0025
a0007c0020t0039g0197
 96 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(93): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.830+1081C>T
c.830+1081C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8540133
chr1:8540162 C
C
 T
T
 1 a0001c0002t0002g0173
a0001c0002t0002g0173
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.830+1052G>A
c.830+1052G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8540162
chr1:8540342 C
C
 T
T
 40 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(37): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0004c0012t0008g0137
a0004c0012t0008g0138
a0008c0017t0003g0101
a0010c0027t0003g0086
 40 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(37): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02735.hp2
HG02976.hp2
HG03195.hp1
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.830+872G>A
c.830+872G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8540342
chr1:8540670 T
T
 C
C
 2 a0001c0001t0001g0040
a0001c0001t0036g0194
a0001c0001t0001g0040
a0001c0001t0036g0194
 2 HG02155.hp1
NA18985.hp2
HG02155.hp1
NA18985.hp2
 intron_variant MODIFIER c.830+544A>G
c.830+544A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8540670
chr1:8541059 A
A
 C
C
 26 a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
others(23): Show 
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0005g0123
a0001c0007t0001g0008
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0015t0001g0009
a0002c0006t0003g0139
a0002c0026t0008g0140
 26 HG00140.hp1
HG00544.hp2
HG00639.hp2
others(23): Show 
HG00140.hp1
HG00544.hp2
HG00639.hp2
HG00741.hp2
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG01358.hp2
HG01361.hp2
HG01981.hp1
HG02258.hp2
HG02280.hp2
HG02602.hp2
HG02622.hp2
HG02698.hp1
HG02896.hp1
HG03654.hp2
HG03831.hp1
HG04115.hp2
NA18939.hp1
NA18946.hp1
NA18973.hp1
NA18993.hp1
NA19009.hp2
NA19043.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.830+155T>G
c.830+155T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8541059
chr1:8541148 T
T
 A
A
 1 a0003c0008t0001g0031
a0003c0008t0001g0031
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.830+66A>T
c.830+66A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8541148
chr1:8541177 A
A
 G
G
 1 a0001c0002t0005g0125
a0001c0002t0005g0125
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.830+37T>C
c.830+37T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8541177
chr1:8541187 A
A
 G
G
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.830+27T>C
c.830+27T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 7/22 chr1 8541187
chr1:8541380 G
G
 A
A
 5 a0001c0001t0001g0074
a0003c0008t0001g0006
a0003c0008t0001g0031
others(2): Show 
a0001c0001t0001g0074
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
 5 HG02647.hp1
HG02970.hp1
HG02976.hp1
others(2): Show 
HG02647.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03139.hp2
 intron_variant MODIFIER c.726-62C>T
c.726-62C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8541380
chr1:8541479 T
T
 C
C
 1 a0001c0004t0003g0109
a0001c0004t0003g0109
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.726-161A>G
c.726-161A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8541479
chr1:8541657 G
G
 C
C
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.726-339C>G
c.726-339C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8541657
chr1:8541729 T
T
 C
C
 1 a0001c0002t0002g0180
a0001c0002t0002g0180
 1 HG02080.hp2
HG02080.hp2
 intron_variant MODIFIER c.726-411A>G
c.726-411A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8541729
chr1:8541773 T
T
 G
G
 3 a0001c0003t0011g0108
a0001c0005t0019g0030
a0001c0016t0020g0001
a0001c0003t0011g0108
a0001c0005t0019g0030
a0001c0016t0020g0001
 3 HG03130.hp2
HG06807.hp2
NA20129.hp2
HG03130.hp2
HG06807.hp2
NA20129.hp2
 intron_variant MODIFIER c.726-455A>C
c.726-455A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8541773
chr1:8541998 A
A
 G
G
 1 a0001c0002t0005g0125
a0001c0002t0005g0125
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.726-680T>C
c.726-680T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8541998
chr1:8542108 G
G
 A
A
 3 a0001c0001t0001g0004
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0001t0001g0004
a0001c0004t0001g0049
a0001c0004t0003g0092
 3 HG00609.hp2
HG01433.hp1
NA19074.hp1
HG00609.hp2
HG01433.hp1
NA19074.hp1
 intron_variant MODIFIER c.726-790C>T
c.726-790C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8542108
chr1:8542447 C
C
 T
T
 14 a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
others(11): Show 
a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0022g0121
a0001c0004t0027g0106
a0009c0021t0003g0135
 14 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(11): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.726-1129G>A
c.726-1129G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8542447
chr1:8543035 G
G
 A
A
 4 a0001c0002t0005g0110
a0001c0004t0003g0109
a0005c0013t0021g0023
others(1): Show 
a0001c0002t0005g0110
a0001c0004t0003g0109
a0005c0013t0021g0023
a0005c0013t0029g0111
 4 HG02723.hp1
HG03041.hp1
HG03471.hp1
others(1): Show 
HG02723.hp1
HG03041.hp1
HG03471.hp1
NA21309.hp2
 intron_variant MODIFIER c.726-1717C>T
c.726-1717C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8543035
chr1:8543257 G
G
 C
C
 1 a0001c0002t0002g0164
a0001c0002t0002g0164
 1 HG02129.hp1
HG02129.hp1
 intron_variant MODIFIER c.726-1939C>G
c.726-1939C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8543257
chr1:8543379 C
C
 T
T
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.726-2061G>A
c.726-2061G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8543379
chr1:8543718 C
C
 T
T
 88 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(85): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0006c0025t0007g0025
 88 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(85): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03453.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.726-2400G>A
c.726-2400G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8543718
chr1:8543982 C
C
 T
T
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.726-2664G>A
c.726-2664G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8543982
chr1:8543988 C
C
 T
T
 1 a0001c0002t0018g0002
a0001c0002t0018g0002
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.726-2670G>A
c.726-2670G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8543988
chr1:8544099 T
T
 C
C
 4 a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0014
others(1): Show 
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0014
a0001c0003t0004g0036
 4 HG01358.hp2
HG02698.hp1
HG03654.hp2
others(1): Show 
HG01358.hp2
HG02698.hp1
HG03654.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.726-2781A>G
c.726-2781A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8544099
chr1:8544121 G
G
 A
A
 13 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(10): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0034g0156
a0001c0009t0041g0198
a0007c0020t0039g0197
 13 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(10): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02622.hp1
HG02818.hp1
HG02886.hp2
HG02970.hp2
HG03130.hp1
HG03209.hp1
HG03453.hp2
HG03516.hp1
HG03579.hp1
HG06807.hp1
 intron_variant MODIFIER c.726-2803C>T
c.726-2803C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8544121
chr1:8544311 C
C
 G
G
 40 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(37): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0004c0012t0008g0137
a0004c0012t0008g0138
a0008c0017t0003g0101
a0010c0027t0003g0086
 40 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(37): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02735.hp2
HG02976.hp2
HG03195.hp1
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.726-2993G>C
c.726-2993G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8544311
chr1:8544963 A
A
 G
G
 1 a0001c0003t0017g0032
a0001c0003t0017g0032
 1 HG04115.hp2
HG04115.hp2
 intron_variant MODIFIER c.726-3645T>C
c.726-3645T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8544963
chr1:8545065 G
G
 T
T
 1 a0003c0008t0001g0006
a0003c0008t0001g0006
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.726-3747C>A
c.726-3747C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8545065
chr1:8545207 T
T
 C
C
 1 a0001c0002t0018g0002
a0001c0002t0018g0002
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.726-3889A>G
c.726-3889A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8545207
chr1:8545218 T
T
 C
C
 1 a0001c0004t0040g0199
a0001c0004t0040g0199
 1 HG02970.hp2
HG02970.hp2
 intron_variant MODIFIER c.726-3900A>G
c.726-3900A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8545218
chr1:8545308 C
C
 T
T
 2 a0001c0002t0002g0149
a0001c0002t0035g0160
a0001c0002t0002g0149
a0001c0002t0035g0160
 2 HG02602.hp1
HG03669.hp2
HG02602.hp1
HG03669.hp2
 intron_variant MODIFIER c.726-3990G>A
c.726-3990G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8545308
chr1:8545579 T
T
 C
C
 2 a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0188
a0001c0002t0002g0189
 2 HG01168.hp1
HG01169.hp1
HG01168.hp1
HG01169.hp1
 intron_variant MODIFIER c.726-4261A>G
c.726-4261A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8545579
chr1:8545608 A
A
 T
T
 38 a0001c0001t0001g0037
a0001c0003t0004g0007
a0001c0003t0004g0010
others(35): Show 
a0001c0001t0001g0037
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0002c0006t0003g0139
a0002c0026t0008g0140
a0006c0025t0007g0025
 38 HG00140.hp1
HG00544.hp2
HG00639.hp2
others(35): Show 
HG00140.hp1
HG00544.hp2
HG00639.hp2
HG00741.hp2
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG01358.hp2
HG01361.hp2
HG01981.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02602.hp2
HG02622.hp2
HG02647.hp2
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG03130.hp2
HG03540.hp2
HG03654.hp2
HG03831.hp1
HG04115.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18946.hp1
NA18973.hp1
NA18993.hp1
NA19009.hp2
NA19043.hp2
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.726-4290T>A
c.726-4290T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8545608
chr1:8545685 C
C
 CT
CT
 9 a0001c0001t0001g0038
a0001c0001t0001g0052
a0001c0001t0001g0067
others(6): Show 
a0001c0001t0001g0038
a0001c0001t0001g0052
a0001c0001t0001g0067
a0001c0001t0001g0075
a0001c0002t0002g0165
a0001c0002t0002g0176
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0023t0002g0175
 9 HG02523.hp1
HG02886.hp2
HG03453.hp2
others(6): Show 
HG02523.hp1
HG02886.hp2
HG03453.hp2
HG03831.hp2
NA18939.hp2
NA18967.hp1
NA18967.hp2
NA18983.hp2
NA19085.hp1
 intron_variant MODIFIER c.726-4368dupA
c.726-4368dupA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8545685
chr1:8545685 CT
CT
 C
C
 39 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(36): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0007t0003g0084
a0001c0007t0003g0099
a0001c0018t0001g0005
a0001c0022t0008g0082
a0001c0024t0002g0182
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0004c0012t0008g0137
a0004c0012t0008g0138
a0008c0017t0003g0101
a0010c0027t0003g0086
 39 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(36): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02735.hp2
HG02896.hp2
HG02976.hp2
HG03195.hp1
HG03491.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG04115.hp1
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.726-4368delA
c.726-4368delA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8545685
chr1:8545982 C
C
 CT
CT
 41 a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0038
others(38): Show 
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0077
a0001c0001t0003g0141
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0013g0053
a0001c0003t0008g0105
a0001c0003t0011g0112
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0014g0126
a0001c0007t0004g0044
a0002c0006t0003g0139
a0002c0026t0008g0140
 41 HG00140.hp2
HG00280.hp1
HG00597.hp2
others(38): Show 
HG00140.hp2
HG00280.hp1
HG00597.hp2
HG00609.hp2
HG00741.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02486.hp2
HG02523.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02965.hp2
HG04184.hp2
HG04199.hp2
NA18944.hp1
NA18964.hp2
NA18983.hp2
NA18985.hp2
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19085.hp2
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.726-4665dupA
c.726-4665dupA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8545982
chr1:8545982 C
C
 CTT
CTT
 5 a0001c0001t0001g0067
a0001c0001t0001g0075
a0001c0001t0001g0076
others(2): Show 
a0001c0001t0001g0067
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0003t0004g0012
a0001c0007t0004g0047
 5 HG00544.hp2
HG03831.hp2
NA18967.hp1
others(2): Show 
HG00544.hp2
HG03831.hp2
NA18967.hp1
NA19070.hp2
NA19090.hp1
 intron_variant MODIFIER c.726-4666_726-4665d
others(4): Show 
c.726-4666_726-4665dupAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8545982
chr1:8545982 C
C
 CTTTTT
CTTTTT
 24 a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
others(21): Show 
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0099
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0097
a0002c0006t0024g0081
a0004c0012t0008g0137
a0004c0012t0008g0138
a0008c0017t0003g0101
a0010c0027t0003g0086
 24 HG00544.hp1
HG00609.hp1
HG01433.hp2
others(21): Show 
HG00544.hp1
HG00609.hp1
HG01433.hp2
HG01496.hp1
HG01934.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02735.hp2
HG02976.hp2
HG03195.hp1
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18983.hp1
NA18985.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.726-4669_726-4665d
others(7): Show 
c.726-4669_726-4665dupAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8545982
chr1:8545982 C
C
 CTTTTTT
CTTTTTT
 12 a0001c0001t0006g0181
a0001c0001t0031g0144
a0001c0001t0037g0196
others(9): Show 
a0001c0001t0006g0181
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0004t0006g0146
a0001c0007t0003g0098
a0001c0022t0008g0082
a0002c0006t0003g0094
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
 12 HG00280.hp2
HG01515.hp1
HG01517.hp2
others(9): Show 
HG00280.hp2
HG01515.hp1
HG01517.hp2
HG02647.hp1
HG02970.hp1
HG03041.hp2
HG03139.hp2
HG04115.hp1
NA18993.hp2
NA19000.hp1
NA19043.hp1
NA19074.hp2
 intron_variant MODIFIER c.726-4670_726-4665d
others(8): Show 
c.726-4670_726-4665dupAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8545982
chr1:8545982 C
C
 CTTTTTTT
others(3): Show 
CTTTTTTTTTT
 2 a0001c0002t0005g0125
a0001c0002t0032g0155
a0001c0002t0005g0125
a0001c0002t0032g0155
 2 HG03453.hp1
HG03579.hp1
HG03453.hp1
HG03579.hp1
 intron_variant MODIFIER c.726-4674_726-4665d
others(12): Show 
c.726-4674_726-4665dupAAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8545982
chr1:8545982 C
C
 CTTTTTTT
others(4): Show 
CTTTTTTTTTTT
 2 a0001c0002t0002g0157
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0005t0034g0156
 2 HG02622.hp1
HG03130.hp1
HG02622.hp1
HG03130.hp1
 intron_variant MODIFIER c.726-4675_726-4665d
others(13): Show 
c.726-4675_726-4665dupAAAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8545982
chr1:8545982 C
C
 CTTTTTTT
others(5): Show 
CTTTTTTTTTTTT
 1 a0001c0002t0005g0114
a0001c0002t0005g0114
 1 HG02004.hp1
HG02004.hp1
 intron_variant MODIFIER c.726-4676_726-4665d
others(14): Show 
c.726-4676_726-4665dupAAAAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8545982
chr1:8545982 C
C
 CTTTTTTT
others(6): Show 
CTTTTTTTTTTTTT
 2 a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0202
a0001c0005t0009g0203
 2 HG02109.hp1
HG03209.hp1
HG02109.hp1
HG03209.hp1
 intron_variant MODIFIER c.726-4677_726-4665d
others(15): Show 
c.726-4677_726-4665dupAAAAAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8545982
chr1:8545982 C
C
 CTTTTTTT
others(7): Show 
CTTTTTTTTTTTTTT
 2 a0001c0005t0009g0200
a0001c0005t0009g0204
a0001c0005t0009g0200
a0001c0005t0009g0204
 2 HG02818.hp1
HG03516.hp1
HG02818.hp1
HG03516.hp1
 intron_variant MODIFIER c.726-4678_726-4665d
others(16): Show 
c.726-4678_726-4665dupAAAAAAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8545982
chr1:8545982 C
C
 CTTTTTTT
others(8): Show 
CTTTTTTTTTTTTTTT
 2 a0001c0005t0009g0201
a0001c0010t0007g0034
a0001c0005t0009g0201
a0001c0010t0007g0034
 2 HG02257.hp2
HG02965.hp1
HG02257.hp2
HG02965.hp1
 intron_variant MODIFIER c.726-4679_726-4665d
others(17): Show 
c.726-4679_726-4665dupAAAAAAAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8545982
chr1:8545982 C
C
 CTTTTTTT
others(9): Show 
CTTTTTTTTTTTTTTTT
 1 a0001c0001t0001g0073
a0001c0001t0001g0073
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.726-4680_726-4665d
others(18): Show 
c.726-4680_726-4665dupAAAAAAAAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8545982
chr1:8545982 C
C
 CTTTTTTT
others(10): Show 
CTTTTTTTTTTTTTTTTT
 3 a0001c0010t0007g0026
a0001c0010t0013g0024
a0006c0025t0007g0025
a0001c0010t0007g0026
a0001c0010t0013g0024
a0006c0025t0007g0025
 3 HG02647.hp2
HG02809.hp2
HG03540.hp2
HG02647.hp2
HG02809.hp2
HG03540.hp2
 intron_variant MODIFIER c.726-4681_726-4665d
others(19): Show 
c.726-4681_726-4665dupAAAAAAAAAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8545982
chr1:8545982 C
C
 CTTTTTTT
others(13): Show 
CTTTTTTTTTTTTTTTTTTTT
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.726-4684_726-4665d
others(22): Show 
c.726-4684_726-4665dupAAAAAAAAAAAAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8545982
chr1:8545982 C
C
 CTTTTTTT
others(14): Show 
CTTTTTTTTTTTTTTTTTTTTT
 1 a0001c0005t0026g0127
a0001c0005t0026g0127
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.726-4685_726-4665d
others(23): Show 
c.726-4685_726-4665dupAAAAAAAAAAAAAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8545982
chr1:8545982 C
C
 CTTTTTTT
others(15): Show 
CTTTTTTTTTTTTTTTTTTTTTT
 1 a0001c0004t0040g0199
a0001c0004t0040g0199
 1 HG02970.hp2
HG02970.hp2
 intron_variant MODIFIER c.726-4686_726-4665d
others(24): Show 
c.726-4686_726-4665dupAAAAAAAAAAAAAAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8545982
chr1:8545982 C
C
 CTTTTTTT
others(16): Show 
CTTTTTTTTTTTTTTTTTTTTTTT
 2 a0001c0009t0041g0198
a0001c0011t0007g0027
a0001c0009t0041g0198
a0001c0011t0007g0027
 2 HG02145.hp1
HG02723.hp2
HG02145.hp1
HG02723.hp2
 intron_variant MODIFIER c.726-4687_726-4665d
others(25): Show 
c.726-4687_726-4665dupAAAAAAAAAAAAAAAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8545982
chr1:8545982 C
C
 CTTTTTTT
others(33): Show 
CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
 1 a0007c0020t0039g0197
a0007c0020t0039g0197
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.726-4665_726-4664i
others(42): Show 
c.726-4665_726-4664insAAAAAAAAAAAAAAAAAAAAAAAAAAAA
AAAAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8545982
chr1:8545982 CTTT
CTTT
 C
C
 37 a0001c0001t0001g0033
a0001c0002t0002g0148
a0001c0002t0002g0149
others(34): Show 
a0001c0001t0001g0033
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0005g0116
a0001c0002t0035g0160
a0001c0004t0003g0109
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0014t0002g0191
a0001c0023t0002g0175
a0001c0024t0002g0182
 37 HG00639.hp1
HG00741.hp1
HG01169.hp1
others(34): Show 
HG00639.hp1
HG00741.hp1
HG01169.hp1
HG01175.hp1
HG01255.hp2
HG01261.hp2
HG01358.hp1
HG01361.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp2
HG01934.hp2
HG01981.hp2
HG02027.hp2
HG02080.hp2
HG02129.hp1
HG02132.hp2
HG02293.hp2
HG02451.hp1
HG02559.hp2
HG02602.hp1
HG02735.hp1
HG02886.hp2
HG02896.hp2
HG03209.hp2
HG03453.hp2
HG03540.hp1
HG03654.hp1
HG03669.hp2
HG04184.hp1
HG04199.hp1
HG04228.hp1
NA18939.hp2
NA19070.hp1
NA19085.hp1
NA20752.hp1
NA21309.hp2
 intron_variant MODIFIER c.726-4667_726-4665d
others(5): Show 
c.726-4667_726-4665delAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8545982
chr1:8545982 CTTTTT
CTTTTT
 C
C
 11 a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
others(8): Show 
a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0005c0013t0021g0023
a0009c0021t0003g0135
 11 HG01175.hp2
HG01884.hp1
HG02109.hp2
others(8): Show 
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03225.hp1
HG03471.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.726-4669_726-4665d
others(7): Show 
c.726-4669_726-4665delAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8545982
chr1:8545982 CTTTTTT
CTTTTTT
 C
C
 5 a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0004t0010g0120
others(2): Show 
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0022g0121
 5 HG01167.hp1
HG02257.hp1
HG03225.hp2
others(2): Show 
HG01167.hp1
HG02257.hp1
HG03225.hp2
HG03579.hp2
NA20300.hp2
 intron_variant MODIFIER c.726-4670_726-4665d
others(8): Show 
c.726-4670_726-4665delAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8545982
chr1:8546310 T
T
 TA
TA
 152 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(149): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0028g0133
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 152 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(149): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.726-4993dupT
c.726-4993dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8546310
chr1:8546310 T
T
 TAA
TAA
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.726-4994_726-4993d
others(4): Show 
c.726-4994_726-4993dupTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8546310
chr1:8546316 T
T
 A
A
 136 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(133): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0163
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0125
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0005t0026g0127
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0008c0017t0003g0101
a0010c0027t0003g0086
 136 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(133): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp2
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03491.hp1
HG03491.hp2
HG03540.hp2
HG03579.hp2
HG03654.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.726-4998A>T
c.726-4998A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8546316
chr1:8546318 T
T
 A
A
 2 a0001c0001t0001g0066
a0001c0002t0005g0110
a0001c0001t0001g0066
a0001c0002t0005g0110
 2 HG02027.hp1
HG02723.hp1
HG02027.hp1
HG02723.hp1
 intron_variant MODIFIER c.726-5000A>T
c.726-5000A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8546318
chr1:8546606 G
G
 C
C
 1 a0001c0001t0001g0055
a0001c0001t0001g0055
 1 HG04199.hp2
HG04199.hp2
 intron_variant MODIFIER c.726-5288C>G
c.726-5288C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8546606
chr1:8546610 G
G
 C
C
 4 a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
others(1): Show 
a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0005t0026g0127
 4 HG02559.hp1
HG02965.hp2
HG03579.hp2
others(1): Show 
HG02559.hp1
HG02965.hp2
HG03579.hp2
NA21309.hp1
 intron_variant MODIFIER c.726-5292C>G
c.726-5292C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8546610
chr1:8546848 CAAAACAA
others(6): Show 
CAAAACAAAAAAAA
 C
C
 1 a0001c0004t0022g0121
a0001c0004t0022g0121
 1 HG02257.hp1
HG02257.hp1
 intron_variant MODIFIER c.726-5543_726-5531d
others(15): Show 
c.726-5543_726-5531delTTTTTTTTGTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8546848
chr1:8546853 C
C
 CA
CA
 13 a0001c0001t0001g0067
a0001c0002t0002g0180
a0001c0002t0018g0002
others(10): Show 
a0001c0001t0001g0067
a0001c0002t0002g0180
a0001c0002t0018g0002
a0001c0004t0010g0107
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0027g0106
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0026g0127
 13 HG02080.hp2
HG02109.hp1
HG02257.hp2
others(10): Show 
HG02080.hp2
HG02109.hp1
HG02257.hp2
HG02559.hp1
HG02818.hp1
HG02886.hp2
HG02965.hp2
HG03209.hp1
HG03453.hp2
HG03516.hp1
HG03579.hp2
HG03831.hp2
NA21309.hp1
 intron_variant MODIFIER c.726-5536dupT
c.726-5536dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8546853
chr1:8546858 A
A
 C
C
 4 a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
others(1): Show 
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
 4 HG02647.hp1
HG02970.hp1
HG03041.hp2
others(1): Show 
HG02647.hp1
HG02970.hp1
HG03041.hp2
HG03139.hp2
 intron_variant MODIFIER c.726-5540T>G
c.726-5540T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8546858
chr1:8546884 T
T
 G
G
 1 a0001c0001t0006g0170
a0001c0001t0006g0170
 1 HG02698.hp2
HG02698.hp2
 intron_variant MODIFIER c.726-5566A>C
c.726-5566A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8546884
chr1:8546885 T
T
 C
C
 1 a0001c0001t0006g0170
a0001c0001t0006g0170
 1 HG02698.hp2
HG02698.hp2
 intron_variant MODIFIER c.726-5567A>G
c.726-5567A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8546885
chr1:8546965 G
G
 A
A
 88 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(85): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0006c0025t0007g0025
 88 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(85): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03453.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.726-5647C>T
c.726-5647C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8546965
chr1:8547036 A
A
 C
C
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.726-5718T>G
c.726-5718T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8547036
chr1:8547078 CT
CT
 C
C
 133 a0001c0001t0001g0013
a0001c0001t0001g0037
a0001c0001t0001g0038
others(130): Show 
a0001c0001t0001g0013
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0164
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0125
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0010c0027t0003g0086
 133 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(130): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp2
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19070.hp2
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.726-5761delA
c.726-5761delA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8547078
chr1:8547086 T
T
 A
A
 5 a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0045
others(2): Show 
a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0045
a0001c0001t0001g0064
a0001c0003t0012g0022
 5 HG00597.hp2
HG02258.hp1
NA19002.hp1
others(2): Show 
HG00597.hp2
HG02258.hp1
NA19002.hp1
NA19043.hp2
NA19074.hp1
 intron_variant MODIFIER c.726-5768A>T
c.726-5768A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8547086
chr1:8547087 T
T
 A
A
 149 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(146): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0157
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0005g0110
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0002t0035g0160
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0004t0010g0120
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0098
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0014t0002g0191
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0001c0023t0002g0175
a0001c0024t0002g0182
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0009c0021t0003g0135
 149 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(146): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp1
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03491.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18944.hp1
NA18946.hp1
NA18946.hp2
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19085.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.726-5769A>T
c.726-5769A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8547087
chr1:8547163 C
C
 T
T
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.726-5845G>A
c.726-5845G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8547163
chr1:8547214 A
A
 G
G
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.726-5896T>C
c.726-5896T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8547214
chr1:8547364 GCTTT
GCTTT
 G
G
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.726-6050_726-6047d
others(6): Show 
c.726-6050_726-6047delAAAG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8547364
chr1:8547622 A
A
 G
G
 1 a0001c0011t0007g0028
a0001c0011t0007g0028
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.726-6304T>C
c.726-6304T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8547622
chr1:8547734 A
A
 G
G
 2 a0001c0001t0001g0033
a0001c0002t0002g0163
a0001c0001t0001g0033
a0001c0002t0002g0163
 2 HG01884.hp2
HG02451.hp1
HG01884.hp2
HG02451.hp1
 intron_variant MODIFIER c.726-6416T>C
c.726-6416T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8547734
chr1:8548047 A
A
 G
G
 163 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(160): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 163 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(160): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.726-6729T>C
c.726-6729T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8548047
chr1:8548194 G
G
 C
C
 3 a0001c0001t0016g0054
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0001t0016g0054
a0001c0001t0037g0196
a0001c0001t0038g0195
 3 HG01515.hp1
HG01517.hp2
HG02293.hp1
HG01515.hp1
HG01517.hp2
HG02293.hp1
 intron_variant MODIFIER c.726-6876C>G
c.726-6876C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8548194
chr1:8548229 G
G
 A
A
 1 a0001c0007t0004g0047
a0001c0007t0004g0047
 1 NA19070.hp2
NA19070.hp2
 intron_variant MODIFIER c.726-6911C>T
c.726-6911C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8548229
chr1:8548244 C
C
 T
T
 1 a0001c0005t0026g0127
a0001c0005t0026g0127
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.726-6926G>A
c.726-6926G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8548244
chr1:8548542 G
G
 A
A
 1 a0001c0002t0002g0151
a0001c0002t0002g0151
 1 HG01261.hp2
HG01261.hp2
 intron_variant MODIFIER c.726-7224C>T
c.726-7224C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8548542
chr1:8548685 T
T
 C
C
 1 a0001c0002t0002g0157
a0001c0002t0002g0157
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.726-7367A>G
c.726-7367A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8548685
chr1:8548765 C
C
 A
A
 163 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(160): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 163 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(160): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.726-7447G>T
c.726-7447G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8548765
chr1:8548897 T
T
 C
C
 1 a0001c0002t0002g0164
a0001c0002t0002g0164
 1 HG02129.hp1
HG02129.hp1
 intron_variant MODIFIER c.725+7578A>G
c.725+7578A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8548897
chr1:8548940 C
C
 T
T
 40 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(37): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0004c0012t0008g0137
a0004c0012t0008g0138
a0008c0017t0003g0101
a0010c0027t0003g0086
 40 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(37): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02735.hp2
HG02976.hp2
HG03195.hp1
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.725+7535G>A
c.725+7535G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8548940
chr1:8548983 C
C
 CA
CA
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.725+7491dupT
c.725+7491dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8548983
chr1:8549052 A
A
 G
G
 145 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(142): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0114
a0001c0002t0005g0125
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0010c0027t0003g0086
 145 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(142): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.725+7423T>C
c.725+7423T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8549052
chr1:8549158 T
T
 C
C
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.725+7317A>G
c.725+7317A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8549158
chr1:8549170 G
G
 T
T
 2 a0001c0003t0004g0011
a0001c0003t0004g0019
a0001c0003t0004g0011
a0001c0003t0004g0019
 2 NA18946.hp1
NA18973.hp1
NA18946.hp1
NA18973.hp1
 intron_variant MODIFIER c.725+7305C>A
c.725+7305C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8549170
chr1:8549476 T
T
 C
C
 1 a0001c0002t0002g0169
a0001c0002t0002g0169
 1 HG02132.hp2
HG02132.hp2
 intron_variant MODIFIER c.725+6999A>G
c.725+6999A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8549476
chr1:8550008 C
C
 T
T
 8 a0001c0002t0005g0110
a0001c0002t0018g0002
a0001c0004t0003g0109
others(5): Show 
a0001c0002t0005g0110
a0001c0002t0018g0002
a0001c0004t0003g0109
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0005t0026g0127
a0005c0013t0021g0023
a0005c0013t0029g0111
 8 HG02559.hp1
HG02723.hp1
HG02965.hp2
others(5): Show 
HG02559.hp1
HG02723.hp1
HG02965.hp2
HG03041.hp1
HG03471.hp1
HG03579.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.725+6467G>A
c.725+6467G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8550008
chr1:8550233 C
C
 T
T
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.725+6242G>A
c.725+6242G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8550233
chr1:8550446 T
T
 G
G
 161 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(158): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 161 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(158): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.725+6029A>C
c.725+6029A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8550446
chr1:8550641 G
G
 A
A
 2 a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0001g0049
a0001c0004t0003g0092
 2 HG00609.hp2
HG01433.hp1
HG00609.hp2
HG01433.hp1
 intron_variant MODIFIER c.725+5834C>T
c.725+5834C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8550641
chr1:8550707 C
C
 T
T
 12 a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
others(9): Show 
a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0004t0022g0121
a0009c0021t0003g0135
 12 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(9): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03225.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.725+5768G>A
c.725+5768G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8550707
chr1:8550778 C
C
 T
T
 53 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(50): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0006g0145
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0008c0017t0003g0101
a0010c0027t0003g0086
 53 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(50): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02723.hp1
HG02735.hp2
HG02886.hp2
HG02965.hp2
HG02976.hp2
HG03041.hp1
HG03130.hp1
HG03195.hp1
HG03453.hp2
HG03471.hp1
HG03491.hp1
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.725+5697G>A
c.725+5697G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8550778
chr1:8551150 A
A
 AC
AC
 7 a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
others(4): Show 
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0006c0025t0007g0025
 7 HG02280.hp1
HG02451.hp2
HG02647.hp2
others(4): Show 
HG02280.hp1
HG02451.hp2
HG02647.hp2
HG02723.hp2
HG02809.hp2
HG02965.hp1
HG03540.hp2
 intron_variant MODIFIER c.725+5324_725+5325i
others(3): Show 
c.725+5324_725+5325insG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8551150
chr1:8551151 A
A
 C
C
 7 a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
others(4): Show 
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0006c0025t0007g0025
 7 HG02280.hp1
HG02451.hp2
HG02647.hp2
others(4): Show 
HG02280.hp1
HG02451.hp2
HG02647.hp2
HG02723.hp2
HG02809.hp2
HG02965.hp1
HG03540.hp2
 intron_variant MODIFIER c.725+5324T>G
c.725+5324T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8551151
chr1:8551231 A
A
 G
G
 1 a0001c0001t0003g0095
a0001c0001t0003g0095
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.725+5244T>C
c.725+5244T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8551231
chr1:8551497 C
C
 A
A
 1 a0001c0024t0002g0182
a0001c0024t0002g0182
 1 HG02896.hp2
HG02896.hp2
 intron_variant MODIFIER c.725+4978G>T
c.725+4978G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8551497
chr1:8551658 T
T
 C
C
 6 a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0069
others(3): Show 
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0076
a0001c0001t0001g0077
 6 HG02129.hp2
NA19000.hp2
NA19007.hp1
others(3): Show 
HG02129.hp2
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19085.hp2
NA19090.hp1
 intron_variant MODIFIER c.725+4817A>G
c.725+4817A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8551658
chr1:8551747 T
T
 G
G
 4 a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0005t0019g0030
others(1): Show 
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0005t0019g0030
a0001c0016t0020g0001
 4 HG02683.hp2
HG03130.hp2
HG06807.hp2
others(1): Show 
HG02683.hp2
HG03130.hp2
HG06807.hp2
NA20129.hp2
 intron_variant MODIFIER c.725+4728A>C
c.725+4728A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8551747
chr1:8551814 C
C
 T
T
 1 a0001c0002t0002g0161
a0001c0002t0002g0161
 1 HG02027.hp2
HG02027.hp2
 intron_variant MODIFIER c.725+4661G>A
c.725+4661G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8551814
chr1:8551886 T
T
 C
C
 1 a0001c0002t0018g0002
a0001c0002t0018g0002
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.725+4589A>G
c.725+4589A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8551886
chr1:8552045 G
G
 C
C
 87 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(84): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0006c0025t0007g0025
 87 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(84): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03453.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.725+4430C>G
c.725+4430C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8552045
chr1:8552157 T
T
 C
C
 1 a0001c0001t0016g0054
a0001c0001t0016g0054
 1 HG02293.hp1
HG02293.hp1
 intron_variant MODIFIER c.725+4318A>G
c.725+4318A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8552157
chr1:8552305 T
T
 C
C
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.725+4170A>G
c.725+4170A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8552305
chr1:8552743 G
G
 A
A
 2 a0001c0001t0003g0100
a0001c0001t0003g0103
a0001c0001t0003g0100
a0001c0001t0003g0103
 2 NA19007.hp2
NA19090.hp2
NA19007.hp2
NA19090.hp2
 intron_variant MODIFIER c.725+3732C>T
c.725+3732C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8552743
chr1:8552743 G
G
 C
C
 1 a0001c0002t0002g0167
a0001c0002t0002g0167
 1 HG02735.hp1
HG02735.hp1
 intron_variant MODIFIER c.725+3732C>G
c.725+3732C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8552743
chr1:8552851 CGT
CGT
 C
C
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.725+3622_725+3623d
others(4): Show 
c.725+3622_725+3623delAC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8552851
chr1:8552936 C
C
 T
T
 1 a0001c0015t0001g0009
a0001c0015t0001g0009
 1 HG02896.hp1
HG02896.hp1
 intron_variant MODIFIER c.725+3539G>A
c.725+3539G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8552936
chr1:8553049 C
C
 T
T
 1 a0001c0003t0004g0035
a0001c0003t0004g0035
 1 HG00639.hp2
HG00639.hp2
 intron_variant MODIFIER c.725+3426G>A
c.725+3426G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8553049
chr1:8553154 C
C
 T
T
 1 a0001c0004t0005g0079
a0001c0004t0005g0079
 1 HG02735.hp2
HG02735.hp2
 intron_variant MODIFIER c.725+3321G>A
c.725+3321G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8553154
chr1:8553194 G
G
 A
A
 10 a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
others(7): Show 
a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0009c0021t0003g0135
 10 HG01175.hp2
HG01884.hp1
HG02109.hp2
others(7): Show 
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03225.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.725+3281C>T
c.725+3281C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8553194
chr1:8553319 C
C
 T
T
 1 a0001c0004t0040g0199
a0001c0004t0040g0199
 1 HG02970.hp2
HG02970.hp2
 intron_variant MODIFIER c.725+3156G>A
c.725+3156G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8553319
chr1:8553359 C
C
 A
A
 96 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(93): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0006c0025t0007g0025
a0007c0020t0039g0197
 96 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(93): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.725+3116G>T
c.725+3116G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8553359
chr1:8553427 C
C
 T
T
 1 a0001c0001t0001g0073
a0001c0001t0001g0073
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.725+3048G>A
c.725+3048G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8553427
chr1:8553838 A
A
 C
C
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.725+2637T>G
c.725+2637T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8553838
chr1:8554037 C
C
 T
T
 1 a0001c0018t0001g0005
a0001c0018t0001g0005
 1 HG03688.hp1
HG03688.hp1
 intron_variant MODIFIER c.725+2438G>A
c.725+2438G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8554037
chr1:8554041 G
G
 A
A
 1 a0001c0002t0028g0133
a0001c0002t0028g0133
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.725+2434C>T
c.725+2434C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8554041
chr1:8554268 G
G
 T
T
 1 a0001c0001t0001g0043
a0001c0001t0001g0043
 1 HG02074.hp2
HG02074.hp2
 intron_variant MODIFIER c.725+2207C>A
c.725+2207C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8554268
chr1:8554512 G
G
 C
C
 149 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(146): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0125
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0010c0027t0003g0086
 149 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(146): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.725+1963C>G
c.725+1963C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8554512
chr1:8554678 C
C
 CA
CA
 43 a0001c0001t0001g0037
a0001c0001t0001g0067
a0001c0001t0001g0073
others(40): Show 
a0001c0001t0001g0037
a0001c0001t0001g0067
a0001c0001t0001g0073
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0192
a0001c0002t0005g0125
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0005g0123
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0022g0121
a0001c0004t0027g0106
a0001c0007t0001g0008
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0006c0025t0007g0025
 43 HG00140.hp1
HG00544.hp2
HG00639.hp2
others(40): Show 
HG00140.hp1
HG00544.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01168.hp2
HG01175.hp1
HG01192.hp1
HG01255.hp1
HG01358.hp2
HG01361.hp2
HG01981.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02602.hp2
HG02622.hp2
HG02647.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02886.hp2
HG02965.hp1
HG03139.hp1
HG03195.hp2
HG03453.hp1
HG03453.hp2
HG03540.hp2
HG03654.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp2
NA18906.hp1
NA18939.hp1
NA18946.hp1
NA18946.hp2
NA18967.hp2
NA18973.hp1
NA18993.hp1
NA19009.hp2
NA19043.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.725+1796dupT
c.725+1796dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8554678
chr1:8554678 C
C
 CAA
CAA
 43 a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0038
others(40): Show 
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0013g0053
a0001c0003t0004g0068
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0005t0019g0030
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0003c0008t0001g0071
 43 HG00140.hp2
HG00280.hp1
HG00609.hp2
others(40): Show 
HG00140.hp2
HG00280.hp1
HG00609.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01261.hp1
HG01496.hp2
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02486.hp2
HG02523.hp1
HG02683.hp1
HG02683.hp2
HG02896.hp1
HG02976.hp1
HG03041.hp2
HG03130.hp2
HG03491.hp2
HG03688.hp1
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18944.hp1
NA18964.hp2
NA18967.hp1
NA18983.hp2
NA18985.hp2
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19070.hp2
NA19085.hp2
NA20129.hp2
NA20905.hp1
 intron_variant MODIFIER c.725+1795_725+1796d
others(4): Show 
c.725+1795_725+1796dupTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8554678
chr1:8554678 C
C
 CAAA
CAAA
 9 a0001c0001t0001g0004
a0001c0001t0001g0051
a0001c0001t0001g0061
others(6): Show 
a0001c0001t0001g0004
a0001c0001t0001g0051
a0001c0001t0001g0061
a0001c0001t0001g0064
a0001c0001t0001g0076
a0001c0004t0003g0092
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0072
 9 HG00597.hp2
HG01433.hp1
HG02129.hp2
others(6): Show 
HG00597.hp2
HG01433.hp1
HG02129.hp2
HG02647.hp1
HG02970.hp1
HG03139.hp2
NA19074.hp1
NA19090.hp1
NA20300.hp1
 intron_variant MODIFIER c.725+1794_725+1796d
others(5): Show 
c.725+1794_725+1796dupTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8554678
chr1:8554678 CAA
CAA
 C
C
 43 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(40): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0114
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0004t0040g0199
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0009t0041g0198
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0004c0012t0008g0137
a0004c0012t0008g0138
a0007c0020t0039g0197
a0008c0017t0003g0101
a0010c0027t0003g0086
 43 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(40): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02735.hp2
HG02970.hp2
HG02976.hp2
HG03130.hp1
HG03195.hp1
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
HG06807.hp1
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.725+1795_725+1796d
others(4): Show 
c.725+1795_725+1796delTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8554678
chr1:8554678 CAAA
CAAA
 C
C
 12 a0001c0001t0037g0196
a0001c0002t0018g0002
a0001c0002t0032g0155
others(9): Show 
a0001c0001t0037g0196
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0026g0127
a0001c0005t0034g0156
 12 HG01517.hp2
HG02109.hp1
HG02257.hp2
others(9): Show 
HG01517.hp2
HG02109.hp1
HG02257.hp2
HG02559.hp1
HG02622.hp1
HG02818.hp1
HG02965.hp2
HG03209.hp1
HG03516.hp1
HG03579.hp1
HG03579.hp2
NA21309.hp1
 intron_variant MODIFIER c.725+1794_725+1796d
others(5): Show 
c.725+1794_725+1796delTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8554678
chr1:8554789 T
T
 C
C
 1 a0001c0001t0003g0093
a0001c0001t0003g0093
 1 NA18964.hp1
NA18964.hp1
 intron_variant MODIFIER c.725+1686A>G
c.725+1686A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8554789
chr1:8554867 T
T
 C
C
 127 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(124): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0023g0113
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0123
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0009c0021t0003g0135
 127 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(124): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01884.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.725+1608A>G
c.725+1608A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8554867
chr1:8555100 C
C
 A
A
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.725+1375G>T
c.725+1375G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8555100
chr1:8555164 C
C
 T
T
 1 a0001c0002t0002g0174
a0001c0002t0002g0174
 1 NA18946.hp2
NA18946.hp2
 intron_variant MODIFIER c.725+1311G>A
c.725+1311G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8555164
chr1:8555186 A
A
 G
G
 4 a0001c0002t0005g0110
a0001c0004t0003g0109
a0005c0013t0021g0023
others(1): Show 
a0001c0002t0005g0110
a0001c0004t0003g0109
a0005c0013t0021g0023
a0005c0013t0029g0111
 4 HG02723.hp1
HG03041.hp1
HG03471.hp1
others(1): Show 
HG02723.hp1
HG03041.hp1
HG03471.hp1
NA21309.hp2
 intron_variant MODIFIER c.725+1289T>C
c.725+1289T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8555186
chr1:8555240 T
T
 C
C
 1 a0001c0005t0019g0030
a0001c0005t0019g0030
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.725+1235A>G
c.725+1235A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8555240
chr1:8555457 C
C
 T
T
 3 a0001c0002t0005g0110
a0005c0013t0021g0023
a0005c0013t0029g0111
a0001c0002t0005g0110
a0005c0013t0021g0023
a0005c0013t0029g0111
 3 HG02723.hp1
HG03041.hp1
HG03471.hp1
HG02723.hp1
HG03041.hp1
HG03471.hp1
 intron_variant MODIFIER c.725+1018G>A
c.725+1018G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8555457
chr1:8555508 C
C
 T
T
 5 a0001c0001t0001g0074
a0003c0008t0001g0006
a0003c0008t0001g0031
others(2): Show 
a0001c0001t0001g0074
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
 5 HG02647.hp1
HG02970.hp1
HG02976.hp1
others(2): Show 
HG02647.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03139.hp2
 intron_variant MODIFIER c.725+967G>A
c.725+967G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8555508
chr1:8555515 G
G
 A
A
 1 a0001c0001t0003g0087
a0001c0001t0003g0087
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.725+960C>T
c.725+960C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8555515
chr1:8555518 T
T
 C
C
 88 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(85): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0006c0025t0007g0025
 88 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(85): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03453.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.725+957A>G
c.725+957A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8555518
chr1:8555797 T
T
 C
C
 1 a0001c0002t0002g0174
a0001c0002t0002g0174
 1 NA18946.hp2
NA18946.hp2
 intron_variant MODIFIER c.725+678A>G
c.725+678A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8555797
chr1:8556174 C
C
 A
A
 12 a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
others(9): Show 
a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0004t0022g0121
a0009c0021t0003g0135
 12 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(9): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03225.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.725+301G>T
c.725+301G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8556174
chr1:8556345 C
C
 A
A
 53 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(50): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0006g0145
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0008c0017t0003g0101
a0010c0027t0003g0086
 53 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(50): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02723.hp1
HG02735.hp2
HG02886.hp2
HG02965.hp2
HG02976.hp2
HG03041.hp1
HG03130.hp1
HG03195.hp1
HG03453.hp2
HG03471.hp1
HG03491.hp1
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.725+130G>T
c.725+130G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 6/22 chr1 8556345
chr1:8556609 T
T
 TTTCCCAA
others(8): Show 
TTTCCCAAAACAAGTA
 1 a0001c0011t0007g0029
a0001c0011t0007g0029
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.629-53_629-39dupTA
others(13): Show 
c.629-53_629-39dupTACTTGTTTTGGGAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 5/22 chr1 8556609
chr1:8556779 T
T
 G
G
 88 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(85): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0006c0025t0007g0025
 88 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(85): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03453.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.629-208A>C
c.629-208A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 5/22 chr1 8556779
chr1:8556874 C
C
 A
A
 96 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(93): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0006c0025t0007g0025
a0007c0020t0039g0197
 96 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(93): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.629-303G>T
c.629-303G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 5/22 chr1 8556874
chr1:8557058 T
T
 C
C
 1 a0001c0004t0010g0142
a0001c0004t0010g0142
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.628+360A>G
c.628+360A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 5/22 chr1 8557058
chr1:8557195 G
G
 A
A
 1 a0001c0001t0001g0074
a0001c0001t0001g0074
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.628+223C>T
c.628+223C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 5/22 chr1 8557195
chr1:8557585 T
T
 C
C
 1 a0004c0012t0008g0138
a0004c0012t0008g0138
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.523-62A>G
c.523-62A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8557585
chr1:8557861 A
A
 G
G
 4 a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
others(1): Show 
a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0005t0026g0127
 4 HG02559.hp1
HG02965.hp2
HG03579.hp2
others(1): Show 
HG02559.hp1
HG02965.hp2
HG03579.hp2
NA21309.hp1
 intron_variant MODIFIER c.523-338T>C
c.523-338T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8557861
chr1:8558022 T
T
 A
A
 1 a0001c0001t0003g0087
a0001c0001t0003g0087
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.523-499A>T
c.523-499A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8558022
chr1:8558100 G
G
 A
A
 1 a0002c0006t0003g0094
a0002c0006t0003g0094
 1 NA19074.hp2
NA19074.hp2
 intron_variant MODIFIER c.523-577C>T
c.523-577C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8558100
chr1:8558278 T
T
 C
C
 40 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(37): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0004c0012t0008g0137
a0004c0012t0008g0138
a0008c0017t0003g0101
a0010c0027t0003g0086
 40 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(37): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02735.hp2
HG02976.hp2
HG03195.hp1
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.523-755A>G
c.523-755A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8558278
chr1:8558472 A
A
 G
G
 3 a0001c0002t0005g0110
a0005c0013t0021g0023
a0005c0013t0029g0111
a0001c0002t0005g0110
a0005c0013t0021g0023
a0005c0013t0029g0111
 3 HG02723.hp1
HG03041.hp1
HG03471.hp1
HG02723.hp1
HG03041.hp1
HG03471.hp1
 intron_variant MODIFIER c.523-949T>C
c.523-949T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8558472
chr1:8558659 C
C
 A
A
 1 a0001c0001t0003g0093
a0001c0001t0003g0093
 1 NA18964.hp1
NA18964.hp1
 intron_variant MODIFIER c.523-1136G>T
c.523-1136G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8558659
chr1:8559014 A
A
 G
G
 163 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(160): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 163 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(160): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.523-1491T>C
c.523-1491T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8559014
chr1:8559204 T
T
 G
G
 1 a0001c0002t0005g0125
a0001c0002t0005g0125
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.523-1681A>C
c.523-1681A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8559204
chr1:8559280 C
C
 CA
CA
 16 a0001c0002t0002g0148
a0001c0002t0002g0171
a0001c0002t0002g0173
others(13): Show 
a0001c0002t0002g0148
a0001c0002t0002g0171
a0001c0002t0002g0173
a0001c0002t0002g0180
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0005g0110
a0001c0002t0005g0116
a0001c0002t0033g0186
a0001c0004t0005g0083
a0001c0004t0025g0080
a0005c0013t0021g0023
a0005c0013t0029g0111
 16 HG00639.hp1
HG01169.hp1
HG01175.hp1
others(13): Show 
HG00639.hp1
HG01169.hp1
HG01175.hp1
HG01255.hp2
HG01358.hp1
HG01433.hp2
HG01515.hp2
HG02080.hp2
HG02486.hp1
HG02723.hp1
HG03041.hp1
HG03471.hp1
HG04184.hp1
HG04199.hp1
HG04228.hp1
HG04228.hp2
 intron_variant MODIFIER c.523-1758dupT
c.523-1758dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8559280
chr1:8559280 C
C
 CAAAA
CAAAA
 6 a0001c0004t0040g0199
a0001c0010t0007g0026
a0001c0010t0007g0034
others(3): Show 
a0001c0004t0040g0199
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0028
a0007c0020t0039g0197
 6 HG02451.hp2
HG02647.hp2
HG02965.hp1
others(3): Show 
HG02451.hp2
HG02647.hp2
HG02965.hp1
HG02970.hp2
HG03540.hp2
HG06807.hp1
 intron_variant MODIFIER c.523-1761_523-1758d
others(6): Show 
c.523-1761_523-1758dupTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8559280
chr1:8559280 C
C
 CAAAAA
CAAAAA
 13 a0001c0001t0003g0124
a0001c0001t0006g0153
a0001c0002t0002g0161
others(10): Show 
a0001c0001t0003g0124
a0001c0001t0006g0153
a0001c0002t0002g0161
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0009t0041g0198
a0001c0011t0007g0027
a0002c0006t0003g0089
a0006c0025t0007g0025
 13 HG02027.hp2
HG02109.hp1
HG02132.hp1
others(10): Show 
HG02027.hp2
HG02109.hp1
HG02132.hp1
HG02145.hp1
HG02257.hp2
HG02622.hp2
HG02723.hp2
HG02809.hp2
HG03209.hp1
HG03225.hp2
HG03491.hp2
HG03516.hp1
NA19043.hp2
 intron_variant MODIFIER c.523-1762_523-1758d
others(7): Show 
c.523-1762_523-1758dupTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8559280
chr1:8559280 C
C
 CAAAAAA
CAAAAAA
 6 a0001c0001t0001g0067
a0001c0001t0006g0154
a0001c0003t0011g0108
others(3): Show 
a0001c0001t0001g0067
a0001c0001t0006g0154
a0001c0003t0011g0108
a0001c0003t0017g0032
a0001c0005t0009g0204
a0001c0011t0007g0029
 6 HG02280.hp1
HG02818.hp1
HG03831.hp2
others(3): Show 
HG02280.hp1
HG02818.hp1
HG03831.hp2
HG04115.hp2
HG06807.hp2
NA20300.hp2
 intron_variant MODIFIER c.523-1763_523-1758d
others(8): Show 
c.523-1763_523-1758dupTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8559280
chr1:8559280 C
C
 CAAAAAAA
others(4): Show 
CAAAAAAAAAAA
 5 a0001c0002t0013g0053
a0001c0003t0004g0011
a0001c0004t0010g0142
others(2): Show 
a0001c0002t0013g0053
a0001c0003t0004g0011
a0001c0004t0010g0142
a0004c0012t0008g0137
a0004c0012t0008g0138
 5 HG02976.hp2
HG03195.hp1
HG03579.hp2
others(2): Show 
HG02976.hp2
HG03195.hp1
HG03579.hp2
NA18946.hp1
NA20905.hp1
 intron_variant MODIFIER c.523-1768_523-1758d
others(13): Show 
c.523-1768_523-1758dupTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8559280
chr1:8559280 C
C
 CAAAAAAA
others(5): Show 
CAAAAAAAAAAAA
 5 a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0003t0004g0042
others(2): Show 
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0003t0004g0042
a0001c0007t0003g0099
a0008c0017t0003g0101
 5 HG01167.hp2
HG01169.hp2
NA18993.hp1
others(2): Show 
HG01167.hp2
HG01169.hp2
NA18993.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.523-1769_523-1758d
others(14): Show 
c.523-1769_523-1758dupTTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8559280
chr1:8559280 C
C
 CAAAAAAA
others(6): Show 
CAAAAAAAAAAAAA
 9 a0001c0002t0006g0145
a0001c0002t0018g0002
a0001c0003t0004g0010
others(6): Show 
a0001c0002t0006g0145
a0001c0002t0018g0002
a0001c0003t0004g0010
a0001c0003t0004g0012
a0001c0003t0004g0019
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0004t0005g0079
a0001c0004t0010g0120
 9 HG00544.hp2
HG01167.hp1
HG02559.hp1
others(6): Show 
HG00544.hp2
HG01167.hp1
HG02559.hp1
HG02698.hp1
HG02735.hp2
HG03491.hp1
NA18939.hp1
NA18973.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.523-1770_523-1758d
others(15): Show 
c.523-1770_523-1758dupTTTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8559280
chr1:8559280 C
C
 CAAAAAAA
others(7): Show 
CAAAAAAAAAAAAAA
 6 a0001c0001t0001g0062
a0001c0002t0005g0130
a0001c0002t0028g0133
others(3): Show 
a0001c0001t0001g0062
a0001c0002t0005g0130
a0001c0002t0028g0133
a0001c0004t0014g0126
a0002c0006t0003g0090
a0002c0006t0024g0081
 6 HG01496.hp2
HG02165.hp1
HG02809.hp1
others(3): Show 
HG01496.hp2
HG02165.hp1
HG02809.hp1
HG02965.hp2
NA18906.hp2
NA19005.hp2
 intron_variant MODIFIER c.523-1771_523-1758d
others(16): Show 
c.523-1771_523-1758dupTTTTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8559280
chr1:8559280 C
C
 CAAAAAAA
others(8): Show 
CAAAAAAAAAAAAAAA
 13 a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0065
others(10): Show 
a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0065
a0001c0001t0001g0076
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0006g0181
a0001c0002t0005g0131
a0001c0019t0014g0119
a0002c0006t0003g0094
a0010c0027t0003g0086
 13 HG00597.hp1
HG02080.hp1
HG02258.hp1
others(10): Show 
HG00597.hp1
HG02080.hp1
HG02258.hp1
HG03195.hp2
HG03471.hp2
HG04115.hp1
NA18964.hp1
NA18973.hp2
NA18985.hp1
NA19005.hp1
NA19074.hp2
NA19090.hp1
NA20129.hp1
 intron_variant MODIFIER c.523-1772_523-1758d
others(17): Show 
c.523-1772_523-1758dupTTTTTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8559280
chr1:8559280 C
C
 CAAAAAAA
others(9): Show 
CAAAAAAAAAAAAAAAA
 16 a0001c0001t0001g0013
a0001c0001t0001g0038
a0001c0001t0001g0040
others(13): Show 
a0001c0001t0001g0013
a0001c0001t0001g0038
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0061
a0001c0001t0001g0077
a0001c0001t0003g0088
a0001c0001t0003g0103
a0001c0001t0003g0122
a0001c0001t0016g0054
a0001c0001t0037g0196
a0001c0003t0004g0007
a0001c0004t0006g0146
a0001c0007t0004g0044
a0002c0006t0003g0091
a0002c0006t0003g0097
 16 HG01192.hp2
HG01496.hp1
HG01517.hp2
others(13): Show 
HG01192.hp2
HG01496.hp1
HG01517.hp2
HG02145.hp2
HG02155.hp1
HG02293.hp1
HG02523.hp1
HG03654.hp2
NA18944.hp2
NA18964.hp2
NA19002.hp1
NA19002.hp2
NA19007.hp1
NA19043.hp1
NA19090.hp2
NA20300.hp1
 intron_variant MODIFIER c.523-1773_523-1758d
others(18): Show 
c.523-1773_523-1758dupTTTTTTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8559280
chr1:8559280 C
C
 CAAAAAAA
others(10): Show 
CAAAAAAAAAAAAAAAAA
 9 a0001c0001t0001g0004
a0001c0001t0001g0064
a0001c0001t0001g0070
others(6): Show 
a0001c0001t0001g0004
a0001c0001t0001g0064
a0001c0001t0001g0070
a0001c0001t0003g0100
a0001c0001t0003g0104
a0001c0001t0036g0194
a0001c0002t0005g0136
a0001c0016t0020g0001
a0009c0021t0003g0135
 9 HG00597.hp2
HG00609.hp1
HG01175.hp2
others(6): Show 
HG00597.hp2
HG00609.hp1
HG01175.hp2
HG02886.hp1
NA18985.hp2
NA19007.hp2
NA19009.hp1
NA19074.hp1
NA20129.hp2
 intron_variant MODIFIER c.523-1774_523-1758d
others(19): Show 
c.523-1774_523-1758dupTTTTTTTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8559280
chr1:8559280 C
C
 CAAAAAAA
others(11): Show 
CAAAAAAAAAAAAAAAAAA
 1 a0001c0001t0038g0195
a0001c0001t0038g0195
 1 HG01515.hp1
HG01515.hp1
 intron_variant MODIFIER c.523-1775_523-1758d
others(20): Show 
c.523-1775_523-1758dupTTTTTTTTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8559280
chr1:8559280 C
C
 CAAAAAAA
others(12): Show 
CAAAAAAAAAAAAAAAAAAA
 4 a0001c0001t0001g0051
a0001c0001t0001g0055
a0001c0001t0003g0102
others(1): Show 
a0001c0001t0001g0051
a0001c0001t0001g0055
a0001c0001t0003g0102
a0001c0002t0032g0155
 4 HG02129.hp2
HG03579.hp1
HG03688.hp2
others(1): Show 
HG02129.hp2
HG03579.hp1
HG03688.hp2
HG04199.hp2
 intron_variant MODIFIER c.523-1776_523-1758d
others(21): Show 
c.523-1776_523-1758dupTTTTTTTTTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8559280
chr1:8559280 C
C
 CAAAAAAA
others(13): Show 
CAAAAAAAAAAAAAAAAAAAA
 3 a0001c0001t0001g0058
a0001c0002t0005g0129
a0001c0003t0008g0085
a0001c0001t0001g0058
a0001c0002t0005g0129
a0001c0003t0008g0085
 3 HG00280.hp1
HG01934.hp1
HG03225.hp1
HG00280.hp1
HG01934.hp1
HG03225.hp1
 intron_variant MODIFIER c.523-1777_523-1758d
others(22): Show 
c.523-1777_523-1758dupTTTTTTTTTTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8559280
chr1:8559280 C
C
 CAAAAAAA
others(14): Show 
CAAAAAAAAAAAAAAAAAAAAA
 8 a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0063
others(5): Show 
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0063
a0001c0001t0003g0141
a0001c0002t0005g0128
a0001c0002t0005g0132
a0001c0003t0011g0096
a0001c0003t0011g0112
 8 HG00140.hp2
HG01261.hp1
HG01884.hp1
others(5): Show 
HG00140.hp2
HG01261.hp1
HG01884.hp1
HG02074.hp1
HG02109.hp2
HG02486.hp2
HG02683.hp1
HG02683.hp2
 intron_variant MODIFIER c.523-1778_523-1758d
others(23): Show 
c.523-1778_523-1758dupTTTTTTTTTTTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8559280
chr1:8559280 C
C
 CAAAAAAA
others(15): Show 
CAAAAAAAAAAAAAAAAAAAAAA
 2 a0001c0003t0004g0014
a0001c0003t0015g0147
a0001c0003t0004g0014
a0001c0003t0015g0147
 2 HG01358.hp2
HG02280.hp2
HG01358.hp2
HG02280.hp2
 intron_variant MODIFIER c.523-1779_523-1758d
others(24): Show 
c.523-1779_523-1758dupTTTTTTTTTTTTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8559280
chr1:8559280 C
C
 CAAAAAAA
others(16): Show 
CAAAAAAAAAAAAAAAAAAAAAAA
 4 a0001c0001t0001g0048
a0001c0001t0023g0113
a0001c0002t0005g0125
others(1): Show 
a0001c0001t0001g0048
a0001c0001t0023g0113
a0001c0002t0005g0125
a0002c0006t0003g0139
 4 HG00544.hp1
HG01361.hp2
HG03453.hp1
others(1): Show 
HG00544.hp1
HG01361.hp2
HG03453.hp1
NA19085.hp2
 intron_variant MODIFIER c.523-1780_523-1758d
others(25): Show 
c.523-1780_523-1758dupTTTTTTTTTTTTTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8559280
chr1:8559280 C
C
 CAAAAAAA
others(17): Show 
CAAAAAAAAAAAAAAAAAAAAAAAA
 1 a0001c0007t0004g0047
a0001c0007t0004g0047
 1 NA19070.hp2
NA19070.hp2
 intron_variant MODIFIER c.523-1781_523-1758d
others(26): Show 
c.523-1781_523-1758dupTTTTTTTTTTTTTTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8559280
chr1:8559280 C
C
 CAAAAAAA
others(18): Show 
CAAAAAAAAAAAAAAAAAAAAAAAAA
 3 a0001c0001t0001g0039
a0001c0002t0002g0163
a0001c0004t0001g0049
a0001c0001t0001g0039
a0001c0002t0002g0163
a0001c0004t0001g0049
 3 HG00609.hp2
HG02004.hp2
HG02451.hp1
HG00609.hp2
HG02004.hp2
HG02451.hp1
 intron_variant MODIFIER c.523-1758_523-1757i
others(27): Show 
c.523-1758_523-1757insTTTTTTTTTTTTTTTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8559280
chr1:8559280 C
C
 CAAAAAAA
others(20): Show 
CAAAAAAAAAAAAAAAAAAAAAAAAAAA
 1 a0001c0004t0001g0003
a0001c0004t0001g0003
 1 HG04184.hp2
HG04184.hp2
 intron_variant MODIFIER c.523-1758_523-1757i
others(29): Show 
c.523-1758_523-1757insTTTTTTTTTTTTTTTTTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8559280
chr1:8559280 C
C
 CAAAAAAA
others(21): Show 
CAAAAAAAAAAAAAAAAAAAAAAAAAAAA
 2 a0001c0001t0001g0069
a0001c0001t0003g0118
a0001c0001t0001g0069
a0001c0001t0003g0118
 2 HG02523.hp2
NA19000.hp2
HG02523.hp2
NA19000.hp2
 intron_variant MODIFIER c.523-1758_523-1757i
others(30): Show 
c.523-1758_523-1757insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8559280
chr1:8559280 C
C
 CAAAAAAA
others(22): Show 
CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
 2 a0001c0001t0001g0033
a0001c0003t0004g0068
a0001c0001t0001g0033
a0001c0003t0004g0068
 2 HG01884.hp2
HG02258.hp2
HG01884.hp2
HG02258.hp2
 intron_variant MODIFIER c.523-1758_523-1757i
others(31): Show 
c.523-1758_523-1757insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8559280
chr1:8559280 C
C
 CAAAAAAA
others(23): Show 
CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
 1 a0001c0001t0001g0052
a0001c0001t0001g0052
 1 NA18983.hp2
NA18983.hp2
 intron_variant MODIFIER c.523-1758_523-1757i
others(32): Show 
c.523-1758_523-1757insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8559280
chr1:8559280 C
C
 CAAAAAAA
others(25): Show 
CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
 2 a0001c0003t0004g0017
a0001c0007t0001g0008
a0001c0003t0004g0017
a0001c0007t0001g0008
 2 HG00140.hp1
HG03831.hp1
HG00140.hp1
HG03831.hp1
 intron_variant MODIFIER c.523-1758_523-1757i
others(34): Show 
c.523-1758_523-1757insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8559280
chr1:8559280 C
C
 CAAAAAAA
others(26): Show 
CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
 1 a0001c0001t0003g0087
a0001c0001t0003g0087
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.523-1758_523-1757i
others(35): Show 
c.523-1758_523-1757insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8559280
chr1:8559280 C
C
 CAAAAAAA
others(28): Show 
CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
 2 a0001c0001t0001g0046
a0001c0005t0026g0127
a0001c0001t0001g0046
a0001c0005t0026g0127
 2 HG02165.hp2
NA21309.hp1
HG02165.hp2
NA21309.hp1
 intron_variant MODIFIER c.523-1758_523-1757i
others(37): Show 
c.523-1758_523-1757insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8559280
chr1:8559280 C
C
 CAAAAAAA
others(30): Show 
CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
 1 a0001c0018t0001g0005
a0001c0018t0001g0005
 1 HG03688.hp1
HG03688.hp1
 intron_variant MODIFIER c.523-1758_523-1757i
others(39): Show 
c.523-1758_523-1757insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8559280
chr1:8559280 C
C
 CAAAAAAA
others(31): Show 
CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
 1 a0001c0005t0019g0030
a0001c0005t0019g0030
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.523-1758_523-1757i
others(40): Show 
c.523-1758_523-1757insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8559280
chr1:8559280 C
C
 CAAAAAAA
others(32): Show 
CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
 1 a0002c0026t0008g0140
a0002c0026t0008g0140
 1 HG01981.hp1
HG01981.hp1
 intron_variant MODIFIER c.523-1758_523-1757i
others(41): Show 
c.523-1758_523-1757insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8559280
chr1:8559280 C
C
 CAAAAAAA
others(47): Show 
CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
AAAAA
 1 a0001c0001t0006g0184
a0001c0001t0006g0184
 1 NA18944.hp1
NA18944.hp1
 intron_variant MODIFIER c.523-1758_523-1757i
others(56): Show 
c.523-1758_523-1757insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTTTTTTTTTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8559280
chr1:8559280 CAAAAAA
CAAAAAA
 C
C
 5 a0001c0002t0002g0157
a0001c0005t0034g0156
a0003c0008t0001g0006
others(2): Show 
a0001c0002t0002g0157
a0001c0005t0034g0156
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
 5 HG02622.hp1
HG02970.hp1
HG03041.hp2
others(2): Show 
HG02622.hp1
HG02970.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp2
 intron_variant MODIFIER c.523-1763_523-1758d
others(8): Show 
c.523-1763_523-1758delTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8559280
chr1:8559283 A
A
 AAAAAAAA
others(4): Show 
AAAAAAAAAAAC
 1 a0001c0001t0001g0037
a0001c0001t0001g0037
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.523-1761_523-1760i
others(13): Show 
c.523-1761_523-1760insGTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8559283
chr1:8559296 A
A
 AAAAAAAA
others(8): Show 
AAAAAAAAAAAAAAAC
 1 a0001c0004t0022g0121
a0001c0004t0022g0121
 1 HG02257.hp1
HG02257.hp1
 intron_variant MODIFIER c.523-1774_523-1773i
others(17): Show 
c.523-1774_523-1773insGTTTTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8559296
chr1:8559296 A
A
 C
C
 5 a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0174
others(2): Show 
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0023t0002g0175
 5 NA18939.hp2
NA18946.hp2
NA18967.hp2
others(2): Show 
NA18939.hp2
NA18946.hp2
NA18967.hp2
NA19070.hp1
NA19085.hp1
 intron_variant MODIFIER c.523-1773T>G
c.523-1773T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8559296
chr1:8559304 A
A
 AAAAAAAA
others(8): Show 
AAAAAAAAAAAAAAAC
 2 a0001c0001t0001g0043
a0001c0001t0001g0066
a0001c0001t0001g0043
a0001c0001t0001g0066
 2 HG02027.hp1
HG02074.hp2
HG02027.hp1
HG02074.hp2
 intron_variant MODIFIER c.523-1782_523-1781i
others(17): Show 
c.523-1782_523-1781insGTTTTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8559304
chr1:8559306 A
A
 G
G
 2 a0001c0001t0001g0043
a0001c0001t0001g0066
a0001c0001t0001g0043
a0001c0001t0001g0066
 2 HG02027.hp1
HG02074.hp2
HG02027.hp1
HG02074.hp2
 intron_variant MODIFIER c.523-1783T>C
c.523-1783T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8559306
chr1:8559312 A
A
 G
G
 1 a0001c0003t0004g0078
a0001c0003t0004g0078
 1 NA19009.hp2
NA19009.hp2
 intron_variant MODIFIER c.523-1789T>C
c.523-1789T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8559312
chr1:8559315 C
C
 A
A
 1 a0001c0002t0005g0134
a0001c0002t0005g0134
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.523-1792G>T
c.523-1792G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8559315
chr1:8559327 C
C
 A
A
 1 a0001c0001t0001g0050
a0001c0001t0001g0050
 1 NA19005.hp1
NA19005.hp1
 intron_variant MODIFIER c.523-1804G>T
c.523-1804G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8559327
chr1:8559814 T
T
 C
C
 4 a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
others(1): Show 
a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0005t0026g0127
 4 HG02559.hp1
HG02965.hp2
HG03579.hp2
others(1): Show 
HG02559.hp1
HG02965.hp2
HG03579.hp2
NA21309.hp1
 intron_variant MODIFIER c.523-2291A>G
c.523-2291A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8559814
chr1:8559980 A
A
 G
G
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.523-2457T>C
c.523-2457T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8559980
chr1:8559981 C
C
 T
T
 4 a0001c0002t0005g0110
a0001c0004t0003g0109
a0005c0013t0021g0023
others(1): Show 
a0001c0002t0005g0110
a0001c0004t0003g0109
a0005c0013t0021g0023
a0005c0013t0029g0111
 4 HG02723.hp1
HG03041.hp1
HG03471.hp1
others(1): Show 
HG02723.hp1
HG03041.hp1
HG03471.hp1
NA21309.hp2
 intron_variant MODIFIER c.523-2458G>A
c.523-2458G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8559981
chr1:8559988 G
G
 A
A
 1 a0001c0002t0018g0002
a0001c0002t0018g0002
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.523-2465C>T
c.523-2465C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8559988
chr1:8560040 C
C
 T
T
 5 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(2): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
 5 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(2): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.523-2517G>A
c.523-2517G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8560040
chr1:8560060 G
G
 T
T
 1 a0001c0003t0017g0032
a0001c0003t0017g0032
 1 HG04115.hp2
HG04115.hp2
 intron_variant MODIFIER c.523-2537C>A
c.523-2537C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8560060
chr1:8560113 A
A
 C
C
 40 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(37): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0004c0012t0008g0137
a0004c0012t0008g0138
a0008c0017t0003g0101
a0010c0027t0003g0086
 40 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(37): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02735.hp2
HG02976.hp2
HG03195.hp1
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.523-2590T>G
c.523-2590T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8560113
chr1:8560270 G
G
 A
A
 1 a0001c0002t0002g0180
a0001c0002t0002g0180
 1 HG02080.hp2
HG02080.hp2
 intron_variant MODIFIER c.523-2747C>T
c.523-2747C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8560270
chr1:8560496 G
G
 T
T
 1 a0001c0002t0018g0002
a0001c0002t0018g0002
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.523-2973C>A
c.523-2973C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8560496
chr1:8560591 C
C
 T
T
 1 a0001c0002t0005g0110
a0001c0002t0005g0110
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.523-3068G>A
c.523-3068G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8560591
chr1:8560710 G
G
 A
A
 1 a0001c0004t0010g0107
a0001c0004t0010g0107
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.523-3187C>T
c.523-3187C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8560710
chr1:8561367 T
T
 C
C
 1 a0001c0001t0036g0194
a0001c0001t0036g0194
 1 NA18985.hp2
NA18985.hp2
 intron_variant MODIFIER c.523-3844A>G
c.523-3844A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8561367
chr1:8561465 TCAGTCTG
others(13): Show 
TCAGTCTGCAACTGCTAGTTG
 T
T
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.523-3962_523-3943d
others(22): Show 
c.523-3962_523-3943delCAACTAGCAGTTGCAGACTG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8561465
chr1:8561527 G
G
 A
A
 163 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(160): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 163 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(160): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.523-4004C>T
c.523-4004C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8561527
chr1:8562008 C
C
 T
T
 1 a0001c0004t0025g0080
a0001c0004t0025g0080
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.523-4485G>A
c.523-4485G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8562008
chr1:8562142 G
G
 A
A
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.523-4619C>T
c.523-4619C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8562142
chr1:8562477 AGTTT
AGTTT
 A
A
 148 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(145): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0125
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0010c0027t0003g0086
 148 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(145): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.523-4958_523-4955d
others(6): Show 
c.523-4958_523-4955delAAAC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8562477
chr1:8562484 T
T
 C
C
 1 a0001c0002t0002g0150
a0001c0002t0002g0150
 1 HG01981.hp2
HG01981.hp2
 intron_variant MODIFIER c.523-4961A>G
c.523-4961A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8562484
chr1:8562600 C
C
 T
T
 1 a0001c0015t0001g0009
a0001c0015t0001g0009
 1 HG02896.hp1
HG02896.hp1
 intron_variant MODIFIER c.523-5077G>A
c.523-5077G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8562600
chr1:8562617 T
T
 C
C
 3 a0001c0001t0030g0143
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0001t0030g0143
a0001c0007t0003g0084
a0001c0007t0003g0098
 3 HG02155.hp2
NA18983.hp1
NA19000.hp1
HG02155.hp2
NA18983.hp1
NA19000.hp1
 intron_variant MODIFIER c.523-5094A>G
c.523-5094A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8562617
chr1:8562734 A
A
 G
G
 160 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(157): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 160 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(157): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.523-5211T>C
c.523-5211T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8562734
chr1:8563025 G
G
 A
A
 1 a0001c0004t0006g0146
a0001c0004t0006g0146
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.523-5502C>T
c.523-5502C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8563025
chr1:8563286 T
T
 C
C
 2 a0001c0002t0005g0114
a0001c0019t0014g0119
a0001c0002t0005g0114
a0001c0019t0014g0119
 2 HG02004.hp1
HG03195.hp2
HG02004.hp1
HG03195.hp2
 intron_variant MODIFIER c.523-5763A>G
c.523-5763A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8563286
chr1:8563431 C
C
 T
T
 3 a0001c0003t0008g0105
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0003t0008g0105
a0001c0009t0004g0016
a0001c0009t0004g0020
 3 HG00741.hp2
HG01168.hp2
HG01255.hp1
HG00741.hp2
HG01168.hp2
HG01255.hp1
 intron_variant MODIFIER c.523-5908G>A
c.523-5908G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8563431
chr1:8563462 T
T
 C
C
 1 a0001c0023t0002g0175
a0001c0023t0002g0175
 1 NA18939.hp2
NA18939.hp2
 intron_variant MODIFIER c.523-5939A>G
c.523-5939A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8563462
chr1:8563534 G
G
 C
C
 4 a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
others(1): Show 
a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0005t0026g0127
 4 HG02559.hp1
HG02965.hp2
HG03579.hp2
others(1): Show 
HG02559.hp1
HG02965.hp2
HG03579.hp2
NA21309.hp1
 intron_variant MODIFIER c.523-6011C>G
c.523-6011C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8563534
chr1:8563605 A
A
 G
G
 40 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(37): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0004c0012t0008g0137
a0004c0012t0008g0138
a0008c0017t0003g0101
a0010c0027t0003g0086
 40 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(37): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02735.hp2
HG02976.hp2
HG03195.hp1
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.523-6082T>C
c.523-6082T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8563605
chr1:8563617 T
T
 C
C
 1 a0001c0001t0001g0015
a0001c0001t0001g0015
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.523-6094A>G
c.523-6094A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8563617
chr1:8563954 A
A
 G
G
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.523-6431T>C
c.523-6431T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8563954
chr1:8564600 A
A
 G
G
 3 a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
 3 HG02145.hp1
HG02970.hp2
HG06807.hp1
HG02145.hp1
HG02970.hp2
HG06807.hp1
 intron_variant MODIFIER c.523-7077T>C
c.523-7077T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8564600
chr1:8564814 ATGTGTGT
others(17): Show 
ATGTGTGTGTATATGTGTATGTGTG
 A
A
 1 a0005c0013t0021g0023
a0005c0013t0021g0023
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.523-7315_523-7292d
others(26): Show 
c.523-7315_523-7292delCACACATACACATATACACACACA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8564814
chr1:8564816 G
G
 C
C
 1 a0002c0006t0003g0091
a0002c0006t0003g0091
 1 NA19002.hp2
NA19002.hp2
 intron_variant MODIFIER c.523-7293C>G
c.523-7293C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8564816
chr1:8564822 G
G
 GTA
GTA
 3 a0001c0003t0004g0010
a0001c0003t0004g0021
a0001c0016t0020g0001
a0001c0003t0004g0010
a0001c0003t0004g0021
a0001c0016t0020g0001
 3 HG01192.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
HG01192.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.523-7301_523-7300d
others(4): Show 
c.523-7301_523-7300dupTA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8564822
chr1:8564824 A
A
 G
G
 1 a0001c0001t0001g0065
a0001c0001t0001g0065
 1 HG02080.hp1
HG02080.hp1
 intron_variant MODIFIER c.523-7301T>C
c.523-7301T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8564824
chr1:8564826 A
A
 ATATGTGT
others(1): Show 
ATATGTGTG
 3 a0001c0003t0004g0011
a0001c0003t0011g0108
a0001c0003t0012g0022
a0001c0003t0004g0011
a0001c0003t0011g0108
a0001c0003t0012g0022
 3 HG06807.hp2
NA18946.hp1
NA19043.hp2
HG06807.hp2
NA18946.hp1
NA19043.hp2
 intron_variant MODIFIER c.523-7304_523-7303i
others(10): Show 
c.523-7304_523-7303insCACACATA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8564826
chr1:8564826 A
A
 ATATGTGT
others(3): Show 
ATATGTGTGTG
 2 a0001c0003t0004g0019
a0001c0003t0004g0036
a0001c0003t0004g0019
a0001c0003t0004g0036
 2 HG02698.hp1
NA18973.hp1
HG02698.hp1
NA18973.hp1
 intron_variant MODIFIER c.523-7304_523-7303i
others(12): Show 
c.523-7304_523-7303insCACACACATA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8564826
chr1:8564826 A
A
 ATATGTGT
others(5): Show 
ATATGTGTGTGTG
 4 a0001c0003t0004g0007
a0001c0003t0004g0014
a0001c0003t0004g0035
others(1): Show 
a0001c0003t0004g0007
a0001c0003t0004g0014
a0001c0003t0004g0035
a0001c0003t0004g0068
 4 HG00639.hp2
HG01358.hp2
HG02258.hp2
others(1): Show 
HG00639.hp2
HG01358.hp2
HG02258.hp2
HG03654.hp2
 intron_variant MODIFIER c.523-7304_523-7303i
others(14): Show 
c.523-7304_523-7303insCACACACACATA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8564826
chr1:8564826 A
A
 ATATGTGT
others(7): Show 
ATATGTGTGTGTGTG
 3 a0001c0003t0004g0041
a0001c0003t0008g0105
a0001c0003t0012g0018
a0001c0003t0004g0041
a0001c0003t0008g0105
a0001c0003t0012g0018
 3 HG00741.hp2
HG02622.hp2
NA18939.hp1
HG00741.hp2
HG02622.hp2
NA18939.hp1
 intron_variant MODIFIER c.523-7304_523-7303i
others(16): Show 
c.523-7304_523-7303insCACACACACACATA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8564826
chr1:8564826 A
A
 ATATGTGT
others(9): Show 
ATATGTGTGTGTGTGTG
 4 a0001c0003t0004g0042
a0001c0003t0015g0147
a0001c0009t0004g0020
others(1): Show 
a0001c0003t0004g0042
a0001c0003t0015g0147
a0001c0009t0004g0020
a0002c0006t0003g0139
 4 HG01168.hp2
HG01361.hp2
HG02280.hp2
others(1): Show 
HG01168.hp2
HG01361.hp2
HG02280.hp2
NA18993.hp1
 intron_variant MODIFIER c.523-7304_523-7303i
others(18): Show 
c.523-7304_523-7303insCACACACACACACATA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8564826
chr1:8564826 A
A
 ATATGTGT
others(11): Show 
ATATGTGTGTGTGTGTGTG
 4 a0001c0003t0004g0017
a0001c0003t0011g0112
a0001c0007t0001g0008
others(1): Show 
a0001c0003t0004g0017
a0001c0003t0011g0112
a0001c0007t0001g0008
a0001c0009t0004g0016
 4 HG00140.hp1
HG01255.hp1
HG02683.hp2
others(1): Show 
HG00140.hp1
HG01255.hp1
HG02683.hp2
HG03831.hp1
 intron_variant MODIFIER c.523-7304_523-7303i
others(20): Show 
c.523-7304_523-7303insCACACACACACACACATA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8564826
chr1:8564826 A
A
 ATATGTGT
others(13): Show 
ATATGTGTGTGTGTGTGTGTG
 2 a0001c0003t0004g0012
a0002c0026t0008g0140
a0001c0003t0004g0012
a0002c0026t0008g0140
 2 HG00544.hp2
HG01981.hp1
HG00544.hp2
HG01981.hp1
 intron_variant MODIFIER c.523-7304_523-7303i
others(22): Show 
c.523-7304_523-7303insCACACACACACACACACATA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8564826
chr1:8564826 A
A
 ATG
ATG
 4 a0001c0002t0032g0155
a0001c0004t0001g0003
a0001c0004t0003g0092
others(1): Show 
a0001c0002t0032g0155
a0001c0004t0001g0003
a0001c0004t0003g0092
a0007c0020t0039g0197
 4 HG01433.hp1
HG03579.hp1
HG04184.hp2
others(1): Show 
HG01433.hp1
HG03579.hp1
HG04184.hp2
HG06807.hp1
 intron_variant MODIFIER c.523-7305_523-7304d
others(4): Show 
c.523-7305_523-7304dupCA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8564826
chr1:8564826 A
A
 ATGTG
ATGTG
 11 a0001c0001t0001g0046
a0001c0001t0001g0075
a0001c0001t0003g0124
others(8): Show 
a0001c0001t0001g0046
a0001c0001t0001g0075
a0001c0001t0003g0124
a0001c0001t0006g0184
a0001c0004t0001g0049
a0001c0004t0040g0199
a0001c0005t0009g0204
a0001c0007t0004g0047
a0001c0018t0001g0005
a0001c0019t0014g0119
a0003c0008t0001g0031
 11 HG00609.hp2
HG02165.hp2
HG02818.hp1
others(8): Show 
HG00609.hp2
HG02165.hp2
HG02818.hp1
HG02970.hp2
HG03139.hp2
HG03195.hp2
HG03491.hp2
HG03688.hp1
NA18944.hp1
NA18967.hp1
NA19070.hp2
 intron_variant MODIFIER c.523-7307_523-7304d
others(6): Show 
c.523-7307_523-7304dupCACA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8564826
chr1:8564826 A
A
 ATGTGTG
ATGTGTG
 10 a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0043
others(7): Show 
a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0061
a0001c0005t0009g0200
a0001c0015t0001g0009
 10 HG01167.hp2
HG01169.hp2
HG02074.hp2
others(7): Show 
HG01167.hp2
HG01169.hp2
HG02074.hp2
HG02258.hp1
HG02896.hp1
HG03516.hp1
NA19002.hp1
NA19005.hp1
NA19074.hp1
NA20300.hp1
 intron_variant MODIFIER c.523-7304_523-7303i
others(8): Show 
c.523-7304_523-7303insCACACA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8564826
chr1:8564826 A
A
 ATGTGTGT
others(1): Show 
ATGTGTGTG
 11 a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0040
others(8): Show 
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0040
a0001c0001t0001g0048
a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0076
a0001c0005t0009g0203
a0003c0008t0001g0071
 11 HG00280.hp1
HG00597.hp2
HG01496.hp2
others(8): Show 
HG00280.hp1
HG00597.hp2
HG01496.hp2
HG02027.hp1
HG02155.hp1
HG02523.hp1
HG03041.hp2
HG03209.hp1
NA18906.hp1
NA19085.hp2
NA19090.hp1
 intron_variant MODIFIER c.523-7304_523-7303i
others(10): Show 
c.523-7304_523-7303insCACACACA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8564826
chr1:8564826 A
A
 ATGTGTGT
others(3): Show 
ATGTGTGTGTG
 8 a0001c0001t0001g0039
a0001c0001t0001g0051
a0001c0001t0001g0055
others(5): Show 
a0001c0001t0001g0039
a0001c0001t0001g0051
a0001c0001t0001g0055
a0001c0001t0001g0067
a0001c0001t0001g0070
a0001c0001t0036g0194
a0001c0005t0009g0202
a0003c0008t0001g0006
 8 HG02004.hp2
HG02109.hp1
HG02129.hp2
others(5): Show 
HG02004.hp2
HG02109.hp1
HG02129.hp2
HG02970.hp1
HG03831.hp2
HG04199.hp2
NA18985.hp2
NA19009.hp1
 intron_variant MODIFIER c.523-7304_523-7303i
others(12): Show 
c.523-7304_523-7303insCACACACACA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8564826
chr1:8564826 A
A
 ATGTGTGT
others(5): Show 
ATGTGTGTGTGTG
 5 a0001c0001t0001g0052
a0001c0001t0001g0073
a0001c0004t0005g0123
others(2): Show 
a0001c0001t0001g0052
a0001c0001t0001g0073
a0001c0004t0005g0123
a0001c0005t0009g0201
a0003c0008t0001g0072
 5 HG02257.hp2
HG02602.hp2
HG02647.hp1
others(2): Show 
HG02257.hp2
HG02602.hp2
HG02647.hp1
HG03139.hp1
NA18983.hp2
 intron_variant MODIFIER c.523-7304_523-7303i
others(14): Show 
c.523-7304_523-7303insCACACACACACA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8564826
chr1:8564826 A
A
 ATGTGTGT
others(7): Show 
ATGTGTGTGTGTGTG
 4 a0001c0001t0001g0060
a0001c0001t0001g0063
a0001c0002t0005g0125
others(1): Show 
a0001c0001t0001g0060
a0001c0001t0001g0063
a0001c0002t0005g0125
a0001c0007t0004g0044
 4 HG00140.hp2
HG02486.hp2
HG03453.hp1
others(1): Show 
HG00140.hp2
HG02486.hp2
HG03453.hp1
NA18964.hp2
 intron_variant MODIFIER c.523-7304_523-7303i
others(16): Show 
c.523-7304_523-7303insCACACACACACACA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8564826
chr1:8564826 A
A
 ATGTGTGT
others(11): Show 
ATGTGTGTGTGTGTGTGTG
 1 a0001c0001t0001g0077
a0001c0001t0001g0077
 1 NA19007.hp1
NA19007.hp1
 intron_variant MODIFIER c.523-7304_523-7303i
others(20): Show 
c.523-7304_523-7303insCACACACACACACACACA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8564826
chr1:8564826 A
A
 ATGTGTGT
others(13): Show 
ATGTGTGTGTGTGTGTGTGTG
 1 a0001c0005t0019g0030
a0001c0005t0019g0030
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.523-7304_523-7303i
others(22): Show 
c.523-7304_523-7303insCACACACACACACACACACA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8564826
chr1:8564826 A
A
 G
G
 3 a0001c0001t0001g0013
a0001c0001t0001g0065
a0001c0001t0003g0141
a0001c0001t0001g0013
a0001c0001t0001g0065
a0001c0001t0003g0141
 3 HG01192.hp2
HG02080.hp1
HG02683.hp1
HG01192.hp2
HG02080.hp1
HG02683.hp1
 intron_variant MODIFIER c.523-7303T>C
c.523-7303T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8564826
chr1:8564826 ATGTGTAT
others(5): Show 
ATGTGTATGTGTG
 A
A
 3 a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0005t0026g0127
a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0005t0026g0127
 3 HG02559.hp1
HG03579.hp2
NA21309.hp1
HG02559.hp1
HG03579.hp2
NA21309.hp1
 intron_variant MODIFIER c.523-7315_523-7304d
others(14): Show 
c.523-7315_523-7304delCACACATACACA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8564826
chr1:8564826 ATGTGTAT
others(7): Show 
ATGTGTATGTGTGTG
 A
A
 1 a0001c0004t0014g0126
a0001c0004t0014g0126
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.523-7317_523-7304d
others(16): Show 
c.523-7317_523-7304delCACACACATACACA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8564826
chr1:8564826 ATGTGTAT
others(9): Show 
ATGTGTATGTGTGTGTG
 A
A
 7 a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
others(4): Show 
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0006c0025t0007g0025
 7 HG02280.hp1
HG02451.hp2
HG02647.hp2
others(4): Show 
HG02280.hp1
HG02451.hp2
HG02647.hp2
HG02723.hp2
HG02809.hp2
HG02965.hp1
HG03540.hp2
 intron_variant MODIFIER c.523-7319_523-7304d
others(18): Show 
c.523-7319_523-7304delCACACACACATACACA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8564826
chr1:8564826 ATGTGTAT
others(11): Show 
ATGTGTATGTGTGTGTGTG
 A
A
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.523-7321_523-7304d
others(20): Show 
c.523-7321_523-7304delCACACACACACATACACA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8564826
chr1:8564828 G
G
 A
A
 1 a0001c0003t0004g0078
a0001c0003t0004g0078
 1 NA19009.hp2
NA19009.hp2
 intron_variant MODIFIER c.523-7305C>T
c.523-7305C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8564828
chr1:8564828 GTGTA
GTGTA
 G
G
 2 a0001c0001t0001g0074
a0001c0009t0041g0198
a0001c0001t0001g0074
a0001c0009t0041g0198
 2 HG02145.hp1
HG02976.hp1
HG02145.hp1
HG02976.hp1
 intron_variant MODIFIER c.523-7309_523-7306d
others(6): Show 
c.523-7309_523-7306delTACA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8564828
chr1:8564832 A
A
 ATG
ATG
 6 a0001c0002t0002g0162
a0001c0002t0002g0164
a0001c0002t0002g0168
others(3): Show 
a0001c0002t0002g0162
a0001c0002t0002g0164
a0001c0002t0002g0168
a0001c0002t0002g0180
a0001c0002t0005g0110
a0001c0002t0035g0160
 6 HG00741.hp1
HG02080.hp2
HG02129.hp1
others(3): Show 
HG00741.hp1
HG02080.hp2
HG02129.hp1
HG02559.hp2
HG02723.hp1
HG03669.hp2
 intron_variant MODIFIER c.523-7311_523-7310d
others(4): Show 
c.523-7311_523-7310dupCA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8564832
chr1:8564832 A
A
 ATGTG
ATGTG
 2 a0001c0001t0006g0153
a0001c0004t0003g0109
a0001c0001t0006g0153
a0001c0004t0003g0109
 2 HG03225.hp2
NA21309.hp2
HG03225.hp2
NA21309.hp2
 intron_variant MODIFIER c.523-7313_523-7310d
others(6): Show 
c.523-7313_523-7310dupCACA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8564832
chr1:8564832 A
A
 ATGTGTG
ATGTGTG
 2 a0001c0001t0006g0154
a0001c0002t0002g0179
a0001c0001t0006g0154
a0001c0002t0002g0179
 2 HG03516.hp2
NA20300.hp2
HG03516.hp2
NA20300.hp2
 intron_variant MODIFIER c.523-7315_523-7310d
others(8): Show 
c.523-7315_523-7310dupCACACA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8564832
chr1:8564832 A
A
 G
G
 89 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(86): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0002g0148
a0001c0002t0002g0157
a0001c0002t0005g0125
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0007c0020t0039g0197
 89 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(86): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02818.hp1
HG02896.hp1
HG02970.hp1
HG02970.hp2
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03491.hp2
HG03516.hp1
HG03579.hp1
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.523-7309T>C
c.523-7309T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8564832
chr1:8564856 GTGTGTGT
others(11): Show 
GTGTGTGTGTGTGTGTATA
 G
G
 5 a0001c0002t0002g0151
a0001c0002t0002g0171
a0001c0002t0002g0172
others(2): Show 
a0001c0002t0002g0151
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0178
a0001c0002t0002g0183
 5 HG01261.hp2
HG01515.hp2
HG01517.hp1
others(2): Show 
HG01261.hp2
HG01515.hp2
HG01517.hp1
HG01934.hp2
HG02293.hp2
 intron_variant MODIFIER c.523-7351_523-7334d
others(20): Show 
c.523-7351_523-7334delTATACACACACACACACA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8564856
chr1:8564864 GTGTGTGT
others(3): Show 
GTGTGTGTATA
 G
G
 1 a0001c0002t0005g0134
a0001c0002t0005g0134
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.523-7351_523-7342d
others(12): Show 
c.523-7351_523-7342delTATACACACA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8564864
chr1:8564866 G
G
 GTA
GTA
 2 a0001c0003t0008g0085
a0001c0004t0005g0079
a0001c0003t0008g0085
a0001c0004t0005g0079
 2 HG01934.hp1
HG02735.hp2
HG01934.hp1
HG02735.hp2
 intron_variant MODIFIER c.523-7344_523-7343i
others(4): Show 
c.523-7344_523-7343insTA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8564866
chr1:8564866 GTGTGTAT
others(1): Show 
GTGTGTATA
 G
G
 9 a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
others(6): Show 
a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0136
a0001c0002t0028g0133
a0009c0021t0003g0135
 9 HG01175.hp2
HG01884.hp1
HG02109.hp2
others(6): Show 
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02809.hp1
HG02886.hp1
HG03225.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.523-7351_523-7344d
others(10): Show 
c.523-7351_523-7344delTATACACA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8564866
chr1:8564868 G
G
 A
A
 4 a0001c0001t0003g0095
a0001c0003t0008g0085
a0001c0004t0005g0079
others(1): Show 
a0001c0001t0003g0095
a0001c0003t0008g0085
a0001c0004t0005g0079
a0001c0007t0003g0099
 4 HG01934.hp1
HG02735.hp2
NA20129.hp1
others(1): Show 
HG01934.hp1
HG02735.hp2
NA20129.hp1
NA20752.hp2
 intron_variant MODIFIER c.523-7345C>T
c.523-7345C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8564868
chr1:8564868 G
G
 GTA
GTA
 24 a0001c0001t0003g0087
a0001c0001t0003g0102
a0001c0001t0003g0117
others(21): Show 
a0001c0001t0003g0087
a0001c0001t0003g0102
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0002t0005g0114
a0001c0002t0006g0145
a0001c0004t0005g0083
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0004c0012t0008g0137
a0004c0012t0008g0138
a0010c0027t0003g0086
 24 HG00280.hp2
HG01433.hp2
HG01517.hp2
others(21): Show 
HG00280.hp2
HG01433.hp2
HG01517.hp2
HG02004.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02523.hp2
HG02976.hp2
HG03195.hp1
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
NA18944.hp2
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19074.hp2
 intron_variant MODIFIER c.523-7346_523-7345i
others(4): Show 
c.523-7346_523-7345insTA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8564868
chr1:8564870 G
G
 A
A
 31 a0001c0001t0003g0087
a0001c0001t0003g0095
a0001c0001t0003g0102
others(28): Show 
a0001c0001t0003g0087
a0001c0001t0003g0095
a0001c0001t0003g0102
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0002t0005g0114
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0004c0012t0008g0137
a0004c0012t0008g0138
a0010c0027t0003g0086
 31 HG00280.hp2
HG00741.hp2
HG01168.hp2
others(28): Show 
HG00280.hp2
HG00741.hp2
HG01168.hp2
HG01255.hp1
HG01433.hp2
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02523.hp2
HG02735.hp2
HG02976.hp2
HG03195.hp1
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
NA18944.hp2
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19074.hp2
NA20129.hp1
NA20752.hp2
 intron_variant MODIFIER c.523-7347C>T
c.523-7347C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8564870
chr1:8564870 G
G
 GTA
GTA
 5 a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0104
others(2): Show 
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0104
a0001c0003t0011g0096
a0008c0017t0003g0101
 5 HG00609.hp1
HG01496.hp1
HG02074.hp1
others(2): Show 
HG00609.hp1
HG01496.hp1
HG02074.hp1
NA18964.hp1
NA20905.hp2
 intron_variant MODIFIER c.523-7349_523-7348d
others(4): Show 
c.523-7349_523-7348dupTA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8564870
chr1:8564870 G
G
 GTATA
GTATA
 3 a0001c0001t0003g0115
a0001c0001t0016g0054
a0001c0001t0038g0195
a0001c0001t0003g0115
a0001c0001t0016g0054
a0001c0001t0038g0195
 3 HG00597.hp1
HG01515.hp1
HG02293.hp1
HG00597.hp1
HG01515.hp1
HG02293.hp1
 intron_variant MODIFIER c.523-7351_523-7348d
others(6): Show 
c.523-7351_523-7348dupTATA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8564870
chr1:8564870 G
G
 GTGTATA
GTGTATA
 2 a0001c0001t0003g0100
a0001c0001t0003g0103
a0001c0001t0003g0100
a0001c0001t0003g0103
 2 NA19007.hp2
NA19090.hp2
NA19007.hp2
NA19090.hp2
 intron_variant MODIFIER c.523-7348_523-7347i
others(8): Show 
c.523-7348_523-7347insTATACA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8564870
chr1:8564870 G
G
 GTGTGTAT
others(1): Show 
GTGTGTATA
 2 a0001c0001t0023g0113
a0001c0004t0006g0146
a0001c0001t0023g0113
a0001c0004t0006g0146
 2 HG00544.hp1
NA19043.hp1
HG00544.hp1
NA19043.hp1
 intron_variant MODIFIER c.523-7348_523-7347i
others(10): Show 
c.523-7348_523-7347insTATACACA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8564870
chr1:8564870 GTA
GTA
 G
G
 3 a0001c0002t0002g0167
a0001c0002t0002g0174
a0001c0002t0005g0116
a0001c0002t0002g0167
a0001c0002t0002g0174
a0001c0002t0005g0116
 3 HG00639.hp1
HG02735.hp1
NA18946.hp2
HG00639.hp1
HG02735.hp1
NA18946.hp2
 intron_variant MODIFIER c.523-7349_523-7348d
others(4): Show 
c.523-7349_523-7348delTA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8564870
chr1:8564870 GTATA
GTATA
 G
G
 3 a0001c0002t0002g0165
a0001c0004t0010g0120
a0001c0004t0022g0121
a0001c0002t0002g0165
a0001c0004t0010g0120
a0001c0004t0022g0121
 3 HG01167.hp1
HG02257.hp1
NA19085.hp1
HG01167.hp1
HG02257.hp1
NA19085.hp1
 intron_variant MODIFIER c.523-7351_523-7348d
others(6): Show 
c.523-7351_523-7348delTATA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8564870
chr1:8564872 A
A
 G
G
 75 a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0043
others(72): Show 
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0052
a0001c0001t0001g0064
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0152
a0001c0002t0002g0157
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0166
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0173
a0001c0002t0002g0176
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0005g0125
a0001c0002t0035g0160
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0005g0123
a0001c0004t0010g0107
a0001c0004t0010g0142
a0001c0004t0027g0106
a0001c0005t0026g0127
a0001c0007t0001g0008
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0014t0002g0191
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0019t0014g0119
a0001c0023t0002g0175
a0001c0024t0002g0182
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0005c0013t0021g0023
a0006c0025t0007g0025
 75 HG00140.hp1
HG00544.hp2
HG00597.hp2
others(72): Show 
HG00140.hp1
HG00544.hp2
HG00597.hp2
HG00639.hp2
HG00741.hp1
HG01192.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01884.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp2
HG02074.hp2
HG02080.hp2
HG02129.hp1
HG02132.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp2
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03831.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18946.hp1
NA18967.hp2
NA18973.hp1
NA18983.hp2
NA18993.hp1
NA19043.hp2
NA19070.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.523-7349T>C
c.523-7349T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8564872
chr1:8564874 A
A
 G
G
 13 a0001c0001t0001g0073
a0001c0001t0006g0153
a0001c0001t0006g0154
others(10): Show 
a0001c0001t0001g0073
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0002t0002g0167
a0001c0002t0005g0116
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0019
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
 13 HG00544.hp2
HG00639.hp1
HG02280.hp2
others(10): Show 
HG00544.hp2
HG00639.hp1
HG02280.hp2
HG02622.hp2
HG02735.hp1
HG03139.hp1
HG03225.hp2
NA18939.hp1
NA18946.hp1
NA18973.hp1
NA18993.hp1
NA19043.hp2
NA20300.hp2
 intron_variant MODIFIER c.523-7351T>C
c.523-7351T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8564874
chr1:8564876 A
A
 G
G
 4 a0001c0001t0001g0073
a0001c0003t0012g0018
a0001c0004t0010g0120
others(1): Show 
a0001c0001t0001g0073
a0001c0003t0012g0018
a0001c0004t0010g0120
a0001c0004t0022g0121
 4 HG01167.hp1
HG02257.hp1
HG02622.hp2
others(1): Show 
HG01167.hp1
HG02257.hp1
HG02622.hp2
HG03139.hp1
 intron_variant MODIFIER c.523-7353T>C
c.523-7353T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8564876
chr1:8564926 G
G
 A
A
 1 a0001c0004t0010g0120
a0001c0004t0010g0120
 1 HG01167.hp1
HG01167.hp1
 intron_variant MODIFIER c.523-7403C>T
c.523-7403C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8564926
chr1:8565062 G
G
 A
A
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.523-7539C>T
c.523-7539C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8565062
chr1:8565152 G
G
 A
A
 3 a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0025g0080
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0025g0080
 3 HG01433.hp2
HG02735.hp2
HG04228.hp2
HG01433.hp2
HG02735.hp2
HG04228.hp2
 intron_variant MODIFIER c.523-7629C>T
c.523-7629C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8565152
chr1:8565206 AAG
AAG
 A
A
 4 a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
others(1): Show 
a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0005t0026g0127
 4 HG02559.hp1
HG02965.hp2
HG03579.hp2
others(1): Show 
HG02559.hp1
HG02965.hp2
HG03579.hp2
NA21309.hp1
 intron_variant MODIFIER c.523-7685_523-7684d
others(4): Show 
c.523-7685_523-7684delCT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8565206
chr1:8565263 C
C
 T
T
 1 a0001c0004t0010g0142
a0001c0004t0010g0142
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.523-7740G>A
c.523-7740G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8565263
chr1:8565438 G
G
 A
A
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.523-7915C>T
c.523-7915C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8565438
chr1:8565666 G
G
 A
A
 4 a0001c0002t0005g0110
a0001c0004t0003g0109
a0005c0013t0021g0023
others(1): Show 
a0001c0002t0005g0110
a0001c0004t0003g0109
a0005c0013t0021g0023
a0005c0013t0029g0111
 4 HG02723.hp1
HG03041.hp1
HG03471.hp1
others(1): Show 
HG02723.hp1
HG03041.hp1
HG03471.hp1
NA21309.hp2
 intron_variant MODIFIER c.523-8143C>T
c.523-8143C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8565666
chr1:8566058 C
C
 T
T
 40 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(37): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0004c0012t0008g0137
a0004c0012t0008g0138
a0008c0017t0003g0101
a0010c0027t0003g0086
 40 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(37): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02735.hp2
HG02976.hp2
HG03195.hp1
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.523-8535G>A
c.523-8535G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8566058
chr1:8566289 C
C
 T
T
 1 a0001c0016t0020g0001
a0001c0016t0020g0001
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.523-8766G>A
c.523-8766G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8566289
chr1:8566493 G
G
 A
A
 1 a0001c0002t0005g0114
a0001c0002t0005g0114
 1 HG02004.hp1
HG02004.hp1
 intron_variant MODIFIER c.523-8970C>T
c.523-8970C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8566493
chr1:8566792 AT
AT
 A
A
 137 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(134): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0125
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0008c0017t0003g0101
 137 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(134): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02132.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp2
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03491.hp1
HG03491.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.523-9270delA
c.523-9270delA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8566792
chr1:8567030 C
C
 G
G
 1 a0001c0001t0001g0004
a0001c0001t0001g0004
 1 NA19074.hp1
NA19074.hp1
 intron_variant MODIFIER c.523-9507G>C
c.523-9507G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8567030
chr1:8567077 C
C
 T
T
 1 a0001c0001t0001g0052
a0001c0001t0001g0052
 1 NA18983.hp2
NA18983.hp2
 intron_variant MODIFIER c.523-9554G>A
c.523-9554G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8567077
chr1:8567129 T
T
 C
C
 1 a0001c0003t0008g0085
a0001c0003t0008g0085
 1 HG01934.hp1
HG01934.hp1
 intron_variant MODIFIER c.523-9606A>G
c.523-9606A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8567129
chr1:8567362 A
A
 G
G
 3 a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
 3 HG02145.hp1
HG02970.hp2
HG06807.hp1
HG02145.hp1
HG02970.hp2
HG06807.hp1
 intron_variant MODIFIER c.523-9839T>C
c.523-9839T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8567362
chr1:8567760 T
T
 C
C
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.523-10237A>G
c.523-10237A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8567760
chr1:8567852 G
G
 A
A
 1 a0001c0003t0012g0022
a0001c0003t0012g0022
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.523-10329C>T
c.523-10329C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8567852
chr1:8567933 A
A
 G
G
 1 a0001c0001t0006g0154
a0001c0001t0006g0154
 1 NA20300.hp2
NA20300.hp2
 intron_variant MODIFIER c.523-10410T>C
c.523-10410T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8567933
chr1:8567997 T
T
 C
C
 3 a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0025g0080
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0025g0080
 3 HG01433.hp2
HG02735.hp2
HG04228.hp2
HG01433.hp2
HG02735.hp2
HG04228.hp2
 intron_variant MODIFIER c.523-10474A>G
c.523-10474A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8567997
chr1:8568070 T
T
 C
C
 1 a0008c0017t0003g0101
a0008c0017t0003g0101
 1 NA20905.hp2
NA20905.hp2
 intron_variant MODIFIER c.523-10547A>G
c.523-10547A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8568070
chr1:8568119 G
G
 T
T
 1 a0001c0002t0002g0173
a0001c0002t0002g0173
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.523-10596C>A
c.523-10596C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8568119
chr1:8568134 C
C
 CA
CA
 10 a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
others(7): Show 
a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0009c0021t0003g0135
 10 HG01175.hp2
HG01884.hp1
HG02109.hp2
others(7): Show 
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03225.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.523-10612dupT
c.523-10612dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8568134
chr1:8568237 G
G
 A
A
 1 a0001c0001t0023g0113
a0001c0001t0023g0113
 1 HG00544.hp1
HG00544.hp1
 intron_variant MODIFIER c.523-10714C>T
c.523-10714C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8568237
chr1:8568303 T
T
 C
C
 7 a0001c0003t0004g0017
a0001c0003t0004g0021
a0001c0003t0008g0105
others(4): Show 
a0001c0003t0004g0017
a0001c0003t0004g0021
a0001c0003t0008g0105
a0001c0003t0017g0032
a0001c0007t0001g0008
a0001c0009t0004g0016
a0001c0009t0004g0020
 7 HG00140.hp1
HG00741.hp2
HG01168.hp2
others(4): Show 
HG00140.hp1
HG00741.hp2
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG03831.hp1
HG04115.hp2
 intron_variant MODIFIER c.523-10780A>G
c.523-10780A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8568303
chr1:8568362 G
G
 A
A
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.523-10839C>T
c.523-10839C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8568362
chr1:8568566 A
A
 T
T
 1 a0001c0002t0002g0179
a0001c0002t0002g0179
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.523-11043T>A
c.523-11043T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8568566
chr1:8568685 A
A
 G
G
 1 a0001c0001t0001g0055
a0001c0001t0001g0055
 1 HG04199.hp2
HG04199.hp2
 intron_variant MODIFIER c.523-11162T>C
c.523-11162T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8568685
chr1:8568875 C
C
 T
T
 3 a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0015t0001g0009
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0015t0001g0009
 3 HG02622.hp2
HG02896.hp1
NA19043.hp2
HG02622.hp2
HG02896.hp1
NA19043.hp2
 intron_variant MODIFIER c.523-11352G>A
c.523-11352G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8568875
chr1:8568999 A
A
 G
G
 5 a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
others(2): Show 
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
 5 HG02109.hp1
HG02257.hp2
HG02818.hp1
others(2): Show 
HG02109.hp1
HG02257.hp2
HG02818.hp1
HG03209.hp1
HG03516.hp1
 intron_variant MODIFIER c.523-11476T>C
c.523-11476T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8568999
chr1:8569146 C
C
 T
T
 3 a0001c0002t0005g0110
a0005c0013t0021g0023
a0005c0013t0029g0111
a0001c0002t0005g0110
a0005c0013t0021g0023
a0005c0013t0029g0111
 3 HG02723.hp1
HG03041.hp1
HG03471.hp1
HG02723.hp1
HG03041.hp1
HG03471.hp1
 intron_variant MODIFIER c.523-11623G>A
c.523-11623G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8569146
chr1:8569257 C
C
 CA
CA
 55 a0001c0001t0001g0033
a0001c0001t0003g0122
a0001c0001t0006g0153
others(52): Show 
a0001c0001t0001g0033
a0001c0001t0003g0122
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0005g0116
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0002t0035g0160
a0001c0004t0003g0109
a0001c0004t0010g0120
a0001c0004t0022g0121
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0014t0002g0191
a0001c0023t0002g0175
a0001c0024t0002g0182
a0009c0021t0003g0135
 55 HG00639.hp1
HG01167.hp1
HG01168.hp1
others(52): Show 
HG00639.hp1
HG01167.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01255.hp2
HG01261.hp2
HG01358.hp1
HG01361.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp2
HG01981.hp2
HG02027.hp2
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02293.hp2
HG02451.hp1
HG02559.hp2
HG02602.hp1
HG02698.hp2
HG02735.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp2
HG03516.hp2
HG03540.hp1
HG03654.hp1
HG03669.hp2
HG04115.hp1
HG04184.hp1
HG04199.hp1
HG04228.hp1
NA18906.hp2
NA18939.hp2
NA19070.hp1
NA19085.hp1
NA20300.hp2
NA20752.hp1
NA21309.hp2
 intron_variant MODIFIER c.523-11735dupT
c.523-11735dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8569257
chr1:8569257 C
C
 CAA
CAA
 13 a0001c0002t0002g0157
a0001c0002t0002g0168
a0001c0002t0002g0176
others(10): Show 
a0001c0002t0002g0157
a0001c0002t0002g0168
a0001c0002t0002g0176
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0014
a0001c0003t0004g0036
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0005c0013t0021g0023
a0005c0013t0029g0111
 13 HG00741.hp1
HG01358.hp2
HG02622.hp1
others(10): Show 
HG00741.hp1
HG01358.hp2
HG02622.hp1
HG02698.hp1
HG02886.hp2
HG03041.hp1
HG03130.hp1
HG03453.hp2
HG03471.hp1
HG03579.hp1
HG03654.hp2
NA18967.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.523-11736_523-1173
others(6): Show 
c.523-11736_523-11735dupTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8569257
chr1:8569321 T
T
 G
G
 42 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(39): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0013g0053
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0018t0001g0005
 42 HG00140.hp2
HG00280.hp1
HG00597.hp2
others(39): Show 
HG00140.hp2
HG00280.hp1
HG00597.hp2
HG00609.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01261.hp1
HG01433.hp1
HG01496.hp2
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02486.hp2
HG02523.hp1
HG02683.hp1
HG03491.hp2
HG03688.hp1
HG03831.hp2
HG04184.hp2
HG04199.hp2
NA18944.hp1
NA18964.hp2
NA18967.hp1
NA18983.hp2
NA18985.hp2
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.523-11798A>C
c.523-11798A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8569321
chr1:8569577 C
C
 T
T
 1 a0001c0009t0041g0198
a0001c0009t0041g0198
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.523-12054G>A
c.523-12054G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8569577
chr1:8569755 G
G
 A
A
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.523-12232C>T
c.523-12232C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8569755
chr1:8569798 G
G
 A
A
 1 a0001c0003t0004g0078
a0001c0003t0004g0078
 1 NA19009.hp2
NA19009.hp2
 intron_variant MODIFIER c.523-12275C>T
c.523-12275C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8569798
chr1:8569837 AGC
AGC
 A
A
 40 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(37): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0004c0012t0008g0137
a0004c0012t0008g0138
a0008c0017t0003g0101
a0010c0027t0003g0086
 40 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(37): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02735.hp2
HG02976.hp2
HG03195.hp1
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.523-12316_523-1231
others(6): Show 
c.523-12316_523-12315delGC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8569837
chr1:8570087 C
C
 A
A
 4 a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
others(1): Show 
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
 4 HG02647.hp1
HG02970.hp1
HG03041.hp2
others(1): Show 
HG02647.hp1
HG02970.hp1
HG03041.hp2
HG03139.hp2
 intron_variant MODIFIER c.523-12564G>T
c.523-12564G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8570087
chr1:8570110 G
G
 A
A
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.523-12587C>T
c.523-12587C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8570110
chr1:8570166 G
G
 A
A
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.523-12643C>T
c.523-12643C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8570166
chr1:8570484 T
T
 G
G
 4 a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
others(1): Show 
a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0005t0026g0127
 4 HG02559.hp1
HG02965.hp2
HG03579.hp2
others(1): Show 
HG02559.hp1
HG02965.hp2
HG03579.hp2
NA21309.hp1
 intron_variant MODIFIER c.523-12961A>C
c.523-12961A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8570484
chr1:8570543 A
A
 G
G
 2 a0001c0022t0008g0082
a0008c0017t0003g0101
a0001c0022t0008g0082
a0008c0017t0003g0101
 2 HG00280.hp2
NA20905.hp2
HG00280.hp2
NA20905.hp2
 intron_variant MODIFIER c.523-13020T>C
c.523-13020T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8570543
chr1:8570546 T
T
 C
C
 1 a0001c0001t0001g0050
a0001c0001t0001g0050
 1 NA19005.hp1
NA19005.hp1
 intron_variant MODIFIER c.523-13023A>G
c.523-13023A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8570546
chr1:8570588 C
C
 T
T
 1 a0001c0004t0010g0142
a0001c0004t0010g0142
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.523-13065G>A
c.523-13065G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8570588
chr1:8571072 A
A
 G
G
 1 a0001c0022t0008g0082
a0001c0022t0008g0082
 1 HG00280.hp2
HG00280.hp2
 intron_variant MODIFIER c.523-13549T>C
c.523-13549T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8571072
chr1:8571396 T
T
 C
C
 5 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(2): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
 5 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(2): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.523-13873A>G
c.523-13873A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8571396
chr1:8571444 G
G
 C
C
 4 a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0005t0019g0030
others(1): Show 
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0005t0019g0030
a0001c0016t0020g0001
 4 HG02683.hp2
HG03130.hp2
HG06807.hp2
others(1): Show 
HG02683.hp2
HG03130.hp2
HG06807.hp2
NA20129.hp2
 intron_variant MODIFIER c.523-13921C>G
c.523-13921C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8571444
chr1:8571806 G
G
 A
A
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.523-14283C>T
c.523-14283C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8571806
chr1:8571895 AAAAG
AAAAG
 A
A
 44 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(41): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0008c0017t0003g0101
a0010c0027t0003g0086
 44 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(41): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02723.hp1
HG02735.hp2
HG02976.hp2
HG03041.hp1
HG03195.hp1
HG03471.hp1
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.523-14376_523-1437
others(8): Show 
c.523-14376_523-14373delCTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8571895
chr1:8572055 CTT
CTT
 C
C
 2 a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0171
a0001c0002t0002g0172
 2 HG01515.hp2
HG01517.hp1
HG01515.hp2
HG01517.hp1
 intron_variant MODIFIER c.523-14534_523-1453
others(6): Show 
c.523-14534_523-14533delAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8572055
chr1:8572365 G
G
 A
A
 1 a0003c0008t0001g0072
a0003c0008t0001g0072
 1 HG02647.hp1
HG02647.hp1
 intron_variant MODIFIER c.523-14842C>T
c.523-14842C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8572365
chr1:8572448 T
T
 C
C
 1 a0002c0006t0003g0094
a0002c0006t0003g0094
 1 NA19074.hp2
NA19074.hp2
 intron_variant MODIFIER c.523-14925A>G
c.523-14925A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8572448
chr1:8572540 C
C
 T
T
 195 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(192): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0157
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0002t0035g0160
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0001c0023t0002g0175
a0001c0024t0002g0182
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 195 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(192): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp1
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01261.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.523-15017G>A
c.523-15017G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8572540
chr1:8572677 G
G
 C
C
 1 a0001c0004t0010g0120
a0001c0004t0010g0120
 1 HG01167.hp1
HG01167.hp1
 intron_variant MODIFIER c.523-15154C>G
c.523-15154C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8572677
chr1:8572732 A
A
 T
T
 88 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(85): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0006c0025t0007g0025
 88 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(85): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03453.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.523-15209T>A
c.523-15209T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8572732
chr1:8572754 C
C
 A
A
 1 a0001c0005t0026g0127
a0001c0005t0026g0127
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.523-15231G>T
c.523-15231G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8572754
chr1:8572797 T
T
 C
C
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.523-15274A>G
c.523-15274A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8572797
chr1:8573257 C
C
 G
G
 1 a0003c0008t0001g0006
a0003c0008t0001g0006
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.523-15734G>C
c.523-15734G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8573257
chr1:8573408 C
C
 CT
CT
 88 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(85): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0006c0025t0007g0025
 88 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(85): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03453.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.523-15886dupA
c.523-15886dupA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8573408
chr1:8573577 C
C
 T
T
 1 a0001c0002t0002g0183
a0001c0002t0002g0183
 1 HG01934.hp2
HG01934.hp2
 intron_variant MODIFIER c.523-16054G>A
c.523-16054G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8573577
chr1:8573757 C
C
 T
T
 3 a0001c0003t0011g0108
a0001c0005t0019g0030
a0001c0016t0020g0001
a0001c0003t0011g0108
a0001c0005t0019g0030
a0001c0016t0020g0001
 3 HG03130.hp2
HG06807.hp2
NA20129.hp2
HG03130.hp2
HG06807.hp2
NA20129.hp2
 intron_variant MODIFIER c.523-16234G>A
c.523-16234G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8573757
chr1:8574192 A
A
 T
T
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.523-16669T>A
c.523-16669T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8574192
chr1:8574231 G
G
 A
A
 56 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(53): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0028g0133
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0010g0120
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 56 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(53): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG01167.hp1
HG01175.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02293.hp1
HG02523.hp2
HG02723.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02976.hp2
HG03041.hp1
HG03195.hp1
HG03225.hp1
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
NA18906.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.523-16708C>T
c.523-16708C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8574231
chr1:8574340 C
C
 CT
CT
 86 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(83): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0003g0115
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0030g0143
a0001c0001t0036g0194
a0001c0002t0002g0163
a0001c0002t0002g0176
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0022g0121
a0001c0004t0027g0106
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0089
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0009c0021t0003g0135
 86 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(83): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01884.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02132.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02622.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02886.hp2
HG02976.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03453.hp1
HG03453.hp2
HG03491.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp2
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19005.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.523-16818dupA
c.523-16818dupA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8574340
chr1:8574340 C
C
 CTT
CTT
 17 a0001c0001t0001g0065
a0001c0003t0004g0035
a0001c0003t0008g0105
others(14): Show 
a0001c0001t0001g0065
a0001c0003t0004g0035
a0001c0003t0008g0105
a0001c0004t0005g0123
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0015t0001g0009
a0003c0008t0001g0006
a0006c0025t0007g0025
a0007c0020t0039g0197
 17 HG00639.hp2
HG00741.hp2
HG02080.hp1
others(14): Show 
HG00639.hp2
HG00741.hp2
HG02080.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02602.hp2
HG02647.hp2
HG02809.hp2
HG02818.hp1
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG03209.hp1
HG03516.hp1
HG03540.hp2
HG06807.hp1
 intron_variant MODIFIER c.523-16819_523-1681
others(6): Show 
c.523-16819_523-16818dupAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8574340
chr1:8574368 G
G
 A
A
 33 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(30): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0030g0143
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0004c0012t0008g0137
a0004c0012t0008g0138
a0008c0017t0003g0101
a0010c0027t0003g0086
 33 HG00280.hp2
HG00609.hp1
HG01433.hp2
others(30): Show 
HG00280.hp2
HG00609.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02735.hp2
HG02976.hp2
HG03195.hp1
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18983.hp1
NA18985.hp1
NA19000.hp1
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.523-16845C>T
c.523-16845C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8574368
chr1:8574408 G
G
 A
A
 1 a0001c0005t0009g0201
a0001c0005t0009g0201
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.523-16885C>T
c.523-16885C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8574408
chr1:8574835 C
C
 G
G
 12 a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
others(9): Show 
a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0004t0022g0121
a0009c0021t0003g0135
 12 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(9): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03225.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.523-17312G>C
c.523-17312G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8574835
chr1:8574861 A
A
 G
G
 1 a0001c0002t0005g0125
a0001c0002t0005g0125
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.523-17338T>C
c.523-17338T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8574861
chr1:8575063 C
C
 T
T
 1 a0001c0002t0018g0002
a0001c0002t0018g0002
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.523-17540G>A
c.523-17540G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8575063
chr1:8575148 C
C
 T
T
 1 a0001c0003t0004g0017
a0001c0003t0004g0017
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.523-17625G>A
c.523-17625G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8575148
chr1:8575276 T
T
 C
C
 2 a0001c0001t0001g0075
a0001c0001t0006g0184
a0001c0001t0001g0075
a0001c0001t0006g0184
 2 NA18944.hp1
NA18967.hp1
NA18944.hp1
NA18967.hp1
 intron_variant MODIFIER c.523-17753A>G
c.523-17753A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8575276
chr1:8575383 C
C
 CT
CT
 7 a0001c0001t0001g0038
a0001c0001t0006g0184
a0001c0003t0012g0018
others(4): Show 
a0001c0001t0001g0038
a0001c0001t0006g0184
a0001c0003t0012g0018
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0009t0041g0198
a0007c0020t0039g0197
 7 HG02145.hp1
HG02523.hp1
HG02622.hp2
others(4): Show 
HG02145.hp1
HG02523.hp1
HG02622.hp2
HG02886.hp2
HG03453.hp2
HG06807.hp1
NA18944.hp1
 intron_variant MODIFIER c.523-17861dupA
c.523-17861dupA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8575383
chr1:8575383 CT
CT
 C
C
 23 a0001c0002t0002g0174
a0001c0002t0005g0110
a0001c0002t0005g0128
others(20): Show 
a0001c0002t0002g0174
a0001c0002t0005g0110
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0004t0003g0109
a0001c0004t0010g0120
a0001c0004t0022g0121
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0010t0007g0026
a0001c0010t0013g0024
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
 23 HG01167.hp1
HG01884.hp1
HG02109.hp1
others(20): Show 
HG01167.hp1
HG01884.hp1
HG02109.hp1
HG02109.hp2
HG02257.hp1
HG02257.hp2
HG02647.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG03041.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03471.hp2
HG03516.hp1
HG03540.hp2
NA18906.hp2
NA18946.hp2
NA21309.hp2
 intron_variant MODIFIER c.523-17861delA
c.523-17861delA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8575383
chr1:8575416 C
C
 T
T
 2 a0001c0002t0002g0149
a0001c0002t0035g0160
a0001c0002t0002g0149
a0001c0002t0035g0160
 2 HG02602.hp1
HG03669.hp2
HG02602.hp1
HG03669.hp2
 intron_variant MODIFIER c.523-17893G>A
c.523-17893G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8575416
chr1:8575507 G
G
 T
T
 1 a0001c0002t0002g0174
a0001c0002t0002g0174
 1 NA18946.hp2
NA18946.hp2
 intron_variant MODIFIER c.523-17984C>A
c.523-17984C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8575507
chr1:8575534 A
A
 AAT
AAT
 9 a0001c0001t0001g0004
a0001c0001t0001g0045
a0001c0001t0001g0055
others(6): Show 
a0001c0001t0001g0004
a0001c0001t0001g0045
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0003t0008g0085
a0001c0005t0026g0127
a0001c0007t0004g0044
a0001c0007t0004g0047
 9 HG01167.hp2
HG01169.hp2
HG01934.hp1
others(6): Show 
HG01167.hp2
HG01169.hp2
HG01934.hp1
HG04199.hp2
NA18964.hp2
NA19002.hp1
NA19070.hp2
NA19074.hp1
NA21309.hp1
 intron_variant MODIFIER c.523-18013_523-1801
others(6): Show 
c.523-18013_523-18012dupAT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8575534
chr1:8575534 A
A
 AATATAT
AATATAT
 2 a0001c0001t0016g0054
a0001c0002t0032g0155
a0001c0001t0016g0054
a0001c0002t0032g0155
 2 HG02293.hp1
HG03579.hp1
HG02293.hp1
HG03579.hp1
 intron_variant MODIFIER c.523-18017_523-1801
others(10): Show 
c.523-18017_523-18012dupATATAT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8575534
chr1:8575534 A
A
 AATATATA
others(3): Show 
AATATATATAT
 1 a0001c0002t0002g0157
a0001c0002t0002g0157
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.523-18021_523-1801
others(14): Show 
c.523-18021_523-18012dupATATATATAT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8575534
chr1:8575534 AAT
AAT
 A
A
 25 a0001c0001t0001g0048
a0001c0001t0001g0066
a0001c0001t0001g0070
others(22): Show 
a0001c0001t0001g0048
a0001c0001t0001g0066
a0001c0001t0001g0070
a0001c0001t0001g0076
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0104
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0003t0011g0096
a0001c0004t0010g0120
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0009c0021t0003g0135
 25 HG00609.hp1
HG01167.hp1
HG01175.hp2
others(22): Show 
HG00609.hp1
HG01167.hp1
HG01175.hp2
HG01496.hp1
HG01884.hp1
HG02027.hp1
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02257.hp2
HG02647.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02970.hp1
HG03041.hp2
HG03139.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp2
NA18906.hp2
NA18964.hp1
NA19009.hp1
NA19085.hp2
NA19090.hp1
 intron_variant MODIFIER c.523-18013_523-1801
others(6): Show 
c.523-18013_523-18012delAT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8575534
chr1:8575552 TA
TA
 T
T
 2 a0001c0005t0009g0200
a0001c0005t0009g0204
a0001c0005t0009g0200
a0001c0005t0009g0204
 2 HG02818.hp1
HG03516.hp1
HG02818.hp1
HG03516.hp1
 intron_variant MODIFIER c.523-18030delT
c.523-18030delT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8575552
chr1:8575553 ATATATAT
others(3): Show 
ATATATATATT
 A
A
 1 a0001c0001t0003g0115
a0001c0001t0003g0115
 1 HG00597.hp1
HG00597.hp1
 intron_variant MODIFIER c.523-18040_523-1803
others(14): Show 
c.523-18040_523-18031delAATATATATA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8575553
chr1:8575554 TATATA
TATATA
 T
T
 11 a0001c0003t0004g0007
a0001c0003t0004g0011
a0001c0003t0004g0019
others(8): Show 
a0001c0003t0004g0007
a0001c0003t0004g0011
a0001c0003t0004g0019
a0001c0003t0004g0041
a0001c0003t0004g0078
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0015t0001g0009
a0002c0006t0003g0139
a0002c0026t0008g0140
 11 HG01361.hp2
HG01981.hp1
HG02280.hp2
others(8): Show 
HG01361.hp2
HG01981.hp1
HG02280.hp2
HG02622.hp2
HG02896.hp1
HG03654.hp2
NA18939.hp1
NA18946.hp1
NA18973.hp1
NA19009.hp2
NA19043.hp2
 intron_variant MODIFIER c.523-18036_523-1803
others(9): Show 
c.523-18036_523-18032delTATAT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8575554
chr1:8575555 A
A
 T
T
 5 a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
others(2): Show 
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
 5 HG02109.hp1
HG02257.hp2
HG02818.hp1
others(2): Show 
HG02109.hp1
HG02257.hp2
HG02818.hp1
HG03209.hp1
HG03516.hp1
 intron_variant MODIFIER c.523-18032T>A
c.523-18032T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8575555
chr1:8575556 TA
TA
 T
T
 2 a0001c0001t0003g0122
a0001c0002t0002g0151
a0001c0001t0003g0122
a0001c0002t0002g0151
 2 HG01261.hp2
HG02145.hp2
HG01261.hp2
HG02145.hp2
 intron_variant MODIFIER c.523-18034delT
c.523-18034delT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8575556
chr1:8575556 TATA
TATA
 T
T
 6 a0001c0003t0004g0017
a0001c0003t0008g0105
a0001c0004t0005g0123
others(3): Show 
a0001c0003t0004g0017
a0001c0003t0008g0105
a0001c0004t0005g0123
a0001c0007t0001g0008
a0001c0009t0004g0016
a0001c0009t0004g0020
 6 HG00140.hp1
HG00741.hp2
HG01168.hp2
others(3): Show 
HG00140.hp1
HG00741.hp2
HG01168.hp2
HG01255.hp1
HG02602.hp2
HG03831.hp1
 intron_variant MODIFIER c.523-18036_523-1803
others(7): Show 
c.523-18036_523-18034delTAT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8575556
chr1:8575556 TATATA
TATATA
 T
T
 14 a0001c0003t0004g0042
a0001c0003t0011g0108
a0001c0003t0011g0112
others(11): Show 
a0001c0003t0004g0042
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0017g0032
a0001c0010t0007g0026
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0016t0020g0001
a0001c0019t0014g0119
a0004c0012t0008g0137
a0004c0012t0008g0138
a0006c0025t0007g0025
 14 HG02280.hp1
HG02451.hp2
HG02647.hp2
others(11): Show 
HG02280.hp1
HG02451.hp2
HG02647.hp2
HG02683.hp2
HG02723.hp2
HG02809.hp2
HG02976.hp2
HG03195.hp1
HG03195.hp2
HG03540.hp2
HG04115.hp2
HG06807.hp2
NA18993.hp1
NA20129.hp2
 intron_variant MODIFIER c.523-18038_523-1803
others(9): Show 
c.523-18038_523-18034delTATAT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8575556
chr1:8575557 A
A
 T
T
 8 a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0005t0009g0200
others(5): Show 
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0007c0020t0039g0197
 8 HG02109.hp1
HG02257.hp2
HG02818.hp1
others(5): Show 
HG02109.hp1
HG02257.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.523-18034T>A
c.523-18034T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8575557
chr1:8575558 TA
TA
 T
T
 3 a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0178
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0178
 3 HG01515.hp2
HG01517.hp1
HG02293.hp2
HG01515.hp2
HG01517.hp1
HG02293.hp2
 intron_variant MODIFIER c.523-18036delT
c.523-18036delT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8575558
chr1:8575558 TATA
TATA
 T
T
 3 a0001c0001t0001g0073
a0001c0003t0004g0012
a0001c0004t0022g0121
a0001c0001t0001g0073
a0001c0003t0004g0012
a0001c0004t0022g0121
 3 HG00544.hp2
HG02257.hp1
HG03139.hp1
HG00544.hp2
HG02257.hp1
HG03139.hp1
 intron_variant MODIFIER c.523-18038_523-1803
others(7): Show 
c.523-18038_523-18036delTAT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8575558
chr1:8575559 A
A
 AT
AT
 2 a0001c0002t0002g0183
a0001c0002t0005g0125
a0001c0002t0002g0183
a0001c0002t0005g0125
 2 HG01934.hp2
HG03453.hp1
HG01934.hp2
HG03453.hp1
 intron_variant MODIFIER c.523-18037dupA
c.523-18037dupA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8575559
chr1:8575559 A
A
 T
T
 25 a0001c0001t0001g0074
a0001c0001t0003g0122
a0001c0002t0002g0151
others(22): Show 
a0001c0001t0001g0074
a0001c0001t0003g0122
a0001c0002t0002g0151
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0003t0004g0014
a0001c0003t0004g0035
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0007c0020t0039g0197
a0009c0021t0003g0135
 25 HG00639.hp2
HG01175.hp2
HG01261.hp2
others(22): Show 
HG00639.hp2
HG01175.hp2
HG01261.hp2
HG01358.hp2
HG01884.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp2
HG02647.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03139.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03516.hp1
HG06807.hp1
NA18906.hp2
 intron_variant MODIFIER c.523-18036T>A
c.523-18036T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8575559
chr1:8575560 TA
TA
 T
T
 24 a0001c0001t0001g0033
a0001c0001t0006g0170
a0001c0002t0002g0149
others(21): Show 
a0001c0001t0001g0033
a0001c0001t0006g0170
a0001c0002t0002g0149
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0167
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0173
a0001c0002t0002g0177
a0001c0002t0002g0179
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0035g0160
a0001c0003t0004g0010
a0001c0003t0004g0036
a0001c0004t0010g0142
a0001c0004t0040g0199
a0001c0014t0002g0191
a0001c0024t0002g0182
 24 HG00741.hp1
HG01168.hp1
HG01169.hp1
others(21): Show 
HG00741.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01255.hp2
HG01361.hp1
HG01884.hp2
HG02027.hp2
HG02132.hp2
HG02451.hp1
HG02559.hp2
HG02602.hp1
HG02698.hp1
HG02698.hp2
HG02735.hp1
HG02896.hp2
HG02970.hp2
HG03209.hp2
HG03516.hp2
HG03579.hp2
HG03669.hp2
HG04199.hp1
HG04228.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.523-18038delT
c.523-18038delT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8575560
chr1:8575561 A
A
 ATATATAT
others(5): Show 
ATATATATATATT
 1 a0001c0005t0034g0156
a0001c0005t0034g0156
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.523-18039_523-1803
others(16): Show 
c.523-18039_523-18038insAATATATATATA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8575561
chr1:8575561 A
A
 T
T
 51 a0001c0001t0001g0058
a0001c0001t0001g0074
a0001c0001t0003g0100
others(48): Show 
a0001c0001t0001g0058
a0001c0001t0001g0074
a0001c0001t0003g0100
a0001c0001t0003g0103
a0001c0001t0003g0122
a0001c0002t0002g0151
a0001c0002t0002g0165
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0178
a0001c0002t0002g0183
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0003t0004g0007
a0001c0003t0004g0011
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0035
a0001c0003t0004g0041
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0004t0005g0123
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0007t0001g0008
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0015t0001g0009
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0007c0020t0039g0197
a0009c0021t0003g0135
 51 HG00140.hp1
HG00280.hp1
HG00639.hp2
others(48): Show 
HG00140.hp1
HG00280.hp1
HG00639.hp2
HG00741.hp2
HG01168.hp2
HG01175.hp2
HG01255.hp1
HG01261.hp2
HG01358.hp2
HG01361.hp2
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01934.hp2
HG01981.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp2
HG02280.hp2
HG02293.hp2
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03139.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03471.hp2
HG03516.hp1
HG03654.hp2
HG03831.hp1
HG06807.hp1
NA18906.hp2
NA18939.hp1
NA18946.hp1
NA18973.hp1
NA19007.hp2
NA19009.hp2
NA19043.hp2
NA19085.hp1
NA19090.hp2
 intron_variant MODIFIER c.523-18038T>A
c.523-18038T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8575561
chr1:8575561 ATT
ATT
 A
A
 41 a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0038
others(38): Show 
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0095
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0141
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0003t0004g0021
a0001c0004t0003g0092
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0018t0001g0005
a0002c0006t0003g0089
a0002c0006t0003g0097
a0002c0006t0024g0081
 41 HG00140.hp2
HG00544.hp1
HG00597.hp2
others(38): Show 
HG00140.hp2
HG00544.hp1
HG00597.hp2
HG00639.hp1
HG01192.hp1
HG01192.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG02004.hp1
HG02004.hp2
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02132.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02683.hp1
HG02735.hp2
HG03491.hp1
HG03669.hp1
HG03688.hp1
HG04115.hp1
HG04228.hp2
NA18944.hp1
NA18944.hp2
NA18973.hp2
NA18983.hp1
NA18985.hp2
NA18993.hp2
NA19000.hp1
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA20129.hp1
NA20300.hp1
NA20752.hp2
 intron_variant MODIFIER c.523-18040_523-1803
others(6): Show 
c.523-18040_523-18039delAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8575561
chr1:8575562 T
T
 TA
TA
 2 a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0153
a0001c0001t0006g0154
 2 HG03225.hp2
NA20300.hp2
HG03225.hp2
NA20300.hp2
 intron_variant MODIFIER c.523-18040_523-1803
others(5): Show 
c.523-18040_523-18039insT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8575562
chr1:8575563 T
T
 A
A
 22 a0001c0001t0001g0004
a0001c0001t0001g0046
a0001c0001t0001g0052
others(19): Show 
a0001c0001t0001g0004
a0001c0001t0001g0046
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0001g0067
a0001c0001t0001g0075
a0001c0001t0003g0102
a0001c0001t0003g0124
a0001c0001t0038g0195
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0006g0146
a0001c0004t0014g0126
a0001c0005t0026g0127
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0022t0008g0082
a0002c0006t0003g0090
a0002c0006t0003g0094
a0008c0017t0003g0101
 22 HG00280.hp2
HG00609.hp2
HG01167.hp2
others(19): Show 
HG00280.hp2
HG00609.hp2
HG01167.hp2
HG01169.hp2
HG01261.hp1
HG01515.hp1
HG02165.hp1
HG02165.hp2
HG02965.hp2
HG03491.hp2
HG03688.hp2
HG03831.hp2
HG04184.hp2
NA18964.hp2
NA18967.hp1
NA18983.hp2
NA19043.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.523-18040A>T
c.523-18040A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8575563
chr1:8575564 T
T
 A
A
 2 a0001c0001t0001g0069
a0010c0027t0003g0086
a0001c0001t0001g0069
a0010c0027t0003g0086
 2 NA18985.hp1
NA19000.hp2
NA18985.hp1
NA19000.hp2
 intron_variant MODIFIER c.523-18041A>T
c.523-18041A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8575564
chr1:8575565 T
T
 A
A
 4 a0001c0001t0003g0117
a0001c0001t0003g0141
a0001c0022t0008g0082
others(1): Show 
a0001c0001t0003g0117
a0001c0001t0003g0141
a0001c0022t0008g0082
a0002c0006t0003g0094
 4 HG00280.hp2
HG02683.hp1
NA18973.hp2
others(1): Show 
HG00280.hp2
HG02683.hp1
NA18973.hp2
NA19074.hp2
 intron_variant MODIFIER c.523-18042A>T
c.523-18042A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8575565
chr1:8575736 A
A
 C
C
 1 a0001c0002t0002g0167
a0001c0002t0002g0167
 1 HG02735.hp1
HG02735.hp1
 intron_variant MODIFIER c.523-18213T>G
c.523-18213T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8575736
chr1:8575982 T
T
 C
C
 1 a0001c0001t0001g0073
a0001c0001t0001g0073
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.523-18459A>G
c.523-18459A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8575982
chr1:8576152 A
A
 G
G
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.523-18629T>C
c.523-18629T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8576152
chr1:8576249 C
C
 T
T
 1 a0007c0020t0039g0197
a0007c0020t0039g0197
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.523-18726G>A
c.523-18726G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8576249
chr1:8576320 A
A
 G
G
 1 a0002c0006t0003g0091
a0002c0006t0003g0091
 1 NA19002.hp2
NA19002.hp2
 intron_variant MODIFIER c.523-18797T>C
c.523-18797T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8576320
chr1:8577031 G
G
 T
T
 31 a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0038
others(28): Show 
a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0038
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0075
a0001c0001t0003g0124
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0013g0053
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0007t0004g0044
a0001c0007t0004g0047
 31 HG00140.hp2
HG00280.hp1
HG00597.hp2
others(28): Show 
HG00140.hp2
HG00280.hp1
HG00597.hp2
HG00609.hp2
HG01167.hp2
HG01169.hp2
HG01261.hp1
HG01433.hp1
HG01496.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02486.hp2
HG02523.hp1
HG03491.hp2
HG03831.hp2
HG04184.hp2
NA18944.hp1
NA18964.hp2
NA18967.hp1
NA18983.hp2
NA18985.hp2
NA19002.hp1
NA19005.hp1
NA19070.hp2
NA19074.hp1
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.523-19508C>A
c.523-19508C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8577031
chr1:8577042 G
G
 A
A
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.523-19519C>T
c.523-19519C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8577042
chr1:8577215 TG
TG
 T
T
 2 a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0153
a0001c0001t0006g0154
 2 HG03225.hp2
NA20300.hp2
HG03225.hp2
NA20300.hp2
 intron_variant MODIFIER c.523-19693delC
c.523-19693delC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8577215
chr1:8577408 C
C
 A
A
 3 a0001c0002t0002g0152
a0001c0002t0002g0162
a0001c0002t0002g0179
a0001c0002t0002g0152
a0001c0002t0002g0162
a0001c0002t0002g0179
 3 HG02559.hp2
HG03516.hp2
HG03540.hp1
HG02559.hp2
HG03516.hp2
HG03540.hp1
 intron_variant MODIFIER c.523-19885G>T
c.523-19885G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8577408
chr1:8577776 C
C
 T
T
 2 a0001c0001t0001g0013
a0001c0001t0003g0141
a0001c0001t0001g0013
a0001c0001t0003g0141
 2 HG01192.hp2
HG02683.hp1
HG01192.hp2
HG02683.hp1
 intron_variant MODIFIER c.523-20253G>A
c.523-20253G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8577776
chr1:8577995 G
G
 C
C
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.523-20472C>G
c.523-20472C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8577995
chr1:8578086 A
A
 G
G
 103 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(100): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0002g0157
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0006c0025t0007g0025
a0007c0020t0039g0197
 103 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(100): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.523-20563T>C
c.523-20563T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8578086
chr1:8578225 C
C
 T
T
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.523-20702G>A
c.523-20702G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8578225
chr1:8578431 G
G
 T
T
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.523-20908C>A
c.523-20908C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8578431
chr1:8578607 T
T
 C
C
 42 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(39): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0013g0053
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0018t0001g0005
 42 HG00140.hp2
HG00280.hp1
HG00597.hp2
others(39): Show 
HG00140.hp2
HG00280.hp1
HG00597.hp2
HG00609.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01261.hp1
HG01433.hp1
HG01496.hp2
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02486.hp2
HG02523.hp1
HG02683.hp1
HG03491.hp2
HG03688.hp1
HG03831.hp2
HG04184.hp2
HG04199.hp2
NA18944.hp1
NA18964.hp2
NA18967.hp1
NA18983.hp2
NA18985.hp2
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.523-21084A>G
c.523-21084A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8578607
chr1:8578884 T
T
 A
A
 1 a0001c0001t0001g0066
a0001c0001t0001g0066
 1 HG02027.hp1
HG02027.hp1
 intron_variant MODIFIER c.523-21361A>T
c.523-21361A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8578884
chr1:8579257 CCT
CCT
 C
C
 40 a0001c0001t0001g0037
a0001c0003t0004g0007
a0001c0003t0004g0010
others(37): Show 
a0001c0001t0001g0037
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0002c0006t0003g0139
a0002c0026t0008g0140
a0004c0012t0008g0137
a0004c0012t0008g0138
a0006c0025t0007g0025
 40 HG00140.hp1
HG00544.hp2
HG00639.hp2
others(37): Show 
HG00140.hp1
HG00544.hp2
HG00639.hp2
HG00741.hp2
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG01358.hp2
HG01361.hp2
HG01981.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02602.hp2
HG02622.hp2
HG02647.hp2
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02976.hp2
HG03130.hp2
HG03195.hp1
HG03540.hp2
HG03654.hp2
HG03831.hp1
HG04115.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18946.hp1
NA18973.hp1
NA18993.hp1
NA19009.hp2
NA19043.hp2
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.523-21736_523-2173
others(6): Show 
c.523-21736_523-21735delAG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8579257
chr1:8579298 T
T
 C
C
 90 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(87): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0006c0025t0007g0025
 90 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(87): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03453.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.523-21775A>G
c.523-21775A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8579298
chr1:8579541 C
C
 T
T
 1 a0001c0001t0001g0037
a0001c0001t0001g0037
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.523-22018G>A
c.523-22018G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8579541
chr1:8579566 C
C
 G
G
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.523-22043G>C
c.523-22043G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8579566
chr1:8579758 C
C
 T
T
 3 a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
 3 HG02280.hp1
HG02451.hp2
HG02723.hp2
HG02280.hp1
HG02451.hp2
HG02723.hp2
 intron_variant MODIFIER c.523-22235G>A
c.523-22235G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8579758
chr1:8579766 G
G
 T
T
 6 a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0069
others(3): Show 
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0076
a0001c0001t0001g0077
 6 HG02129.hp2
NA19000.hp2
NA19007.hp1
others(3): Show 
HG02129.hp2
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19085.hp2
NA19090.hp1
 intron_variant MODIFIER c.523-22243C>A
c.523-22243C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8579766
chr1:8579819 C
C
 T
T
 5 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(2): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
 5 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(2): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.523-22296G>A
c.523-22296G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8579819
chr1:8579833 G
G
 A
A
 1 a0001c0001t0001g0058
a0001c0001t0001g0058
 1 HG00280.hp1
HG00280.hp1
 intron_variant MODIFIER c.523-22310C>T
c.523-22310C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8579833
chr1:8580104 T
T
 C
C
 1 a0001c0002t0002g0166
a0001c0002t0002g0166
 1 NA19070.hp1
NA19070.hp1
 intron_variant MODIFIER c.523-22581A>G
c.523-22581A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8580104
chr1:8580111 C
C
 T
T
 1 a0001c0007t0004g0047
a0001c0007t0004g0047
 1 NA19070.hp2
NA19070.hp2
 intron_variant MODIFIER c.523-22588G>A
c.523-22588G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8580111
chr1:8580380 G
G
 A
A
 3 a0001c0002t0002g0165
a0001c0002t0002g0176
a0001c0023t0002g0175
a0001c0002t0002g0165
a0001c0002t0002g0176
a0001c0023t0002g0175
 3 NA18939.hp2
NA18967.hp2
NA19085.hp1
NA18939.hp2
NA18967.hp2
NA19085.hp1
 intron_variant MODIFIER c.523-22857C>T
c.523-22857C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8580380
chr1:8580527 A
A
 C
C
 10 a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
others(7): Show 
a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0009c0021t0003g0135
 10 HG01175.hp2
HG01884.hp1
HG02109.hp2
others(7): Show 
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03225.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.523-23004T>G
c.523-23004T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8580527
chr1:8580583 G
G
 A
A
 1 a0001c0001t0001g0004
a0001c0001t0001g0004
 1 NA19074.hp1
NA19074.hp1
 intron_variant MODIFIER c.523-23060C>T
c.523-23060C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8580583
chr1:8580772 G
G
 C
C
 42 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(39): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0013g0053
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0018t0001g0005
 42 HG00140.hp2
HG00280.hp1
HG00597.hp2
others(39): Show 
HG00140.hp2
HG00280.hp1
HG00597.hp2
HG00609.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01261.hp1
HG01433.hp1
HG01496.hp2
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02486.hp2
HG02523.hp1
HG02683.hp1
HG03491.hp2
HG03688.hp1
HG03831.hp2
HG04184.hp2
HG04199.hp2
NA18944.hp1
NA18964.hp2
NA18967.hp1
NA18983.hp2
NA18985.hp2
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.523-23249C>G
c.523-23249C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8580772
chr1:8580833 T
T
 C
C
 162 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(159): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 162 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(159): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.523-23310A>G
c.523-23310A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8580833
chr1:8580836 G
G
 C
C
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.523-23313C>G
c.523-23313C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8580836
chr1:8580894 T
T
 G
G
 1 a0001c0001t0001g0074
a0001c0001t0001g0074
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.523-23371A>C
c.523-23371A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8580894
chr1:8581825 T
T
 G
G
 8 a0001c0005t0019g0030
a0001c0010t0007g0026
a0001c0010t0007g0034
others(5): Show 
a0001c0005t0019g0030
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0006c0025t0007g0025
 8 HG02280.hp1
HG02451.hp2
HG02647.hp2
others(5): Show 
HG02280.hp1
HG02451.hp2
HG02647.hp2
HG02723.hp2
HG02809.hp2
HG02965.hp1
HG03130.hp2
HG03540.hp2
 intron_variant MODIFIER c.523-24302A>C
c.523-24302A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8581825
chr1:8581890 T
T
 C
C
 2 a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0084
a0001c0007t0003g0098
 2 NA18983.hp1
NA19000.hp1
NA18983.hp1
NA19000.hp1
 intron_variant MODIFIER c.523-24367A>G
c.523-24367A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8581890
chr1:8582386 T
T
 C
C
 2 a0001c0001t0001g0004
a0001c0001t0001g0064
a0001c0001t0001g0004
a0001c0001t0001g0064
 2 HG00597.hp2
NA19074.hp1
HG00597.hp2
NA19074.hp1
 intron_variant MODIFIER c.523-24863A>G
c.523-24863A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8582386
chr1:8582387 T
T
 C
C
 1 a0001c0003t0004g0014
a0001c0003t0004g0014
 1 HG01358.hp2
HG01358.hp2
 intron_variant MODIFIER c.523-24864A>G
c.523-24864A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8582387
chr1:8582408 T
T
 C
C
 2 a0001c0002t0002g0157
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0005t0034g0156
 2 HG02622.hp1
HG03130.hp1
HG02622.hp1
HG03130.hp1
 intron_variant MODIFIER c.523-24885A>G
c.523-24885A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8582408
chr1:8582414 T
T
 C
C
 2 a0001c0002t0002g0157
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0005t0034g0156
 2 HG02622.hp1
HG03130.hp1
HG02622.hp1
HG03130.hp1
 intron_variant MODIFIER c.523-24891A>G
c.523-24891A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8582414
chr1:8582428 T
T
 G
G
 57 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(54): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0102
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0002g0157
a0001c0002t0002g0177
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0002t0032g0155
a0001c0003t0004g0019
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0018t0001g0005
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
 57 HG00140.hp2
HG00280.hp1
HG00597.hp2
others(54): Show 
HG00140.hp2
HG00280.hp1
HG00597.hp2
HG00609.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01261.hp1
HG01433.hp1
HG01496.hp2
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02486.hp2
HG02523.hp1
HG02622.hp1
HG02647.hp1
HG02683.hp1
HG02886.hp2
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03491.hp2
HG03579.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp2
HG04184.hp2
HG04199.hp2
NA18944.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.523-24905A>C
c.523-24905A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8582428
chr1:8582529 T
T
 C
C
 107 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(104): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0002g0157
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0004t0010g0107
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0006c0025t0007g0025
a0007c0020t0039g0197
 107 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(104): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.523-25006A>G
c.523-25006A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8582529
chr1:8582553 C
C
 G
G
 1 a0001c0002t0002g0179
a0001c0002t0002g0179
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.523-25030G>C
c.523-25030G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8582553
chr1:8582610 TA
TA
 T
T
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.523-25088delT
c.523-25088delT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8582610
chr1:8582612 C
C
 T
T
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.523-25089G>A
c.523-25089G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8582612
chr1:8582778 C
C
 T
T
 1 a0001c0002t0005g0114
a0001c0002t0005g0114
 1 HG02004.hp1
HG02004.hp1
 intron_variant MODIFIER c.523-25255G>A
c.523-25255G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8582778
chr1:8582779 G
G
 A
A
 12 a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
others(9): Show 
a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0004t0022g0121
a0009c0021t0003g0135
 12 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(9): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03225.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.523-25256C>T
c.523-25256C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8582779
chr1:8582806 G
G
 A
A
 1 a0001c0001t0001g0061
a0001c0001t0001g0061
 1 NA20300.hp1
NA20300.hp1
 intron_variant MODIFIER c.523-25283C>T
c.523-25283C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8582806
chr1:8582830 G
G
 A
A
 3 a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
 3 HG02647.hp1
HG03041.hp2
HG03139.hp2
HG02647.hp1
HG03041.hp2
HG03139.hp2
 intron_variant MODIFIER c.523-25307C>T
c.523-25307C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8582830
chr1:8582872 T
T
 C
C
 98 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(95): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0006c0025t0007g0025
a0007c0020t0039g0197
 98 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(95): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.523-25349A>G
c.523-25349A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8582872
chr1:8582882 G
G
 T
T
 1 a0001c0001t0001g0069
a0001c0001t0001g0069
 1 NA19000.hp2
NA19000.hp2
 intron_variant MODIFIER c.523-25359C>A
c.523-25359C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8582882
chr1:8583064 T
T
 C
C
 1 a0001c0003t0004g0010
a0001c0003t0004g0010
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.523-25541A>G
c.523-25541A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8583064
chr1:8583065 A
A
 G
G
 1 a0001c0009t0041g0198
a0001c0009t0041g0198
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.523-25542T>C
c.523-25542T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8583065
chr1:8583132 G
G
 A
A
 1 a0001c0004t0003g0109
a0001c0004t0003g0109
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.523-25609C>T
c.523-25609C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8583132
chr1:8583292 T
T
 C
C
 1 a0001c0002t0018g0002
a0001c0002t0018g0002
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.523-25769A>G
c.523-25769A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8583292
chr1:8583381 C
C
 T
T
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.523-25858G>A
c.523-25858G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8583381
chr1:8583438 G
G
 A
A
 2 a0001c0001t0001g0015
a0001c0001t0001g0058
a0001c0001t0001g0015
a0001c0001t0001g0058
 2 HG00280.hp1
HG02258.hp1
HG00280.hp1
HG02258.hp1
 intron_variant MODIFIER c.523-25915C>T
c.523-25915C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8583438
chr1:8583629 G
G
 T
T
 4 a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
others(1): Show 
a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0005t0026g0127
 4 HG02559.hp1
HG02965.hp2
HG03579.hp2
others(1): Show 
HG02559.hp1
HG02965.hp2
HG03579.hp2
NA21309.hp1
 intron_variant MODIFIER c.523-26106C>A
c.523-26106C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8583629
chr1:8583868 G
G
 C
C
 1 a0001c0002t0002g0168
a0001c0002t0002g0168
 1 HG00741.hp1
HG00741.hp1
 intron_variant MODIFIER c.523-26345C>G
c.523-26345C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8583868
chr1:8583948 C
C
 T
T
 103 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(100): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0002g0157
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0006c0025t0007g0025
a0007c0020t0039g0197
 103 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(100): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.523-26425G>A
c.523-26425G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8583948
chr1:8584253 G
G
 C
C
 1 a0001c0001t0003g0115
a0001c0001t0003g0115
 1 HG00597.hp1
HG00597.hp1
 intron_variant MODIFIER c.523-26730C>G
c.523-26730C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8584253
chr1:8584276 C
C
 T
T
 1 a0001c0001t0003g0087
a0001c0001t0003g0087
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.523-26753G>A
c.523-26753G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8584276
chr1:8584282 A
A
 G
G
 3 a0001c0001t0001g0038
a0001c0001t0001g0046
a0001c0001t0001g0052
a0001c0001t0001g0038
a0001c0001t0001g0046
a0001c0001t0001g0052
 3 HG02165.hp2
HG02523.hp1
NA18983.hp2
HG02165.hp2
HG02523.hp1
NA18983.hp2
 intron_variant MODIFIER c.523-26759T>C
c.523-26759T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8584282
chr1:8584464 A
A
 G
G
 5 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(2): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
 5 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(2): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.523-26941T>C
c.523-26941T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8584464
chr1:8584606 G
G
 C
C
 1 a0001c0002t0032g0155
a0001c0002t0032g0155
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.523-27083C>G
c.523-27083C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8584606
chr1:8584702 T
T
 C
C
 1 a0001c0001t0003g0118
a0001c0001t0003g0118
 1 HG02523.hp2
HG02523.hp2
 intron_variant MODIFIER c.523-27179A>G
c.523-27179A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8584702
chr1:8584764 T
T
 G
G
 1 a0001c0002t0005g0110
a0001c0002t0005g0110
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.523-27241A>C
c.523-27241A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8584764
chr1:8584798 G
G
 A
A
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.523-27275C>T
c.523-27275C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8584798
chr1:8584890 G
G
 A
A
 1 a0001c0003t0012g0022
a0001c0003t0012g0022
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.523-27367C>T
c.523-27367C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8584890
chr1:8584910 G
G
 A
A
 1 a0001c0002t0002g0173
a0001c0002t0002g0173
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.523-27387C>T
c.523-27387C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8584910
chr1:8584911 G
G
 C
C
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.523-27388C>G
c.523-27388C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8584911
chr1:8584985 C
C
 A
A
 162 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(159): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 162 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(159): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.523-27462G>T
c.523-27462G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8584985
chr1:8585007 G
G
 C
C
 1 a0001c0002t0002g0177
a0001c0002t0002g0177
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.523-27484C>G
c.523-27484C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8585007
chr1:8585146 C
C
 CA
CA
 21 a0001c0001t0003g0122
a0001c0002t0002g0165
a0001c0002t0002g0166
others(18): Show 
a0001c0001t0003g0122
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0180
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0004t0022g0121
a0001c0007t0004g0044
a0001c0014t0002g0191
a0001c0023t0002g0175
a0009c0021t0003g0135
a0010c0027t0003g0086
 21 HG01167.hp1
HG01175.hp2
HG01361.hp1
others(18): Show 
HG01167.hp1
HG01175.hp2
HG01361.hp1
HG01884.hp1
HG02080.hp2
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03225.hp1
HG03471.hp2
NA18906.hp2
NA18939.hp2
NA18946.hp2
NA18964.hp2
NA18967.hp2
NA18985.hp1
NA19070.hp1
NA19085.hp1
 intron_variant MODIFIER c.523-27624dupT
c.523-27624dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8585146
chr1:8585146 C
C
 CAA
CAA
 96 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(93): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0006c0025t0007g0025
a0007c0020t0039g0197
 96 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(93): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.523-27625_523-2762
others(6): Show 
c.523-27625_523-27624dupTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8585146
chr1:8585146 C
C
 CAAAAAAA
others(4): Show 
CAAAAAAAAAAA
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.523-27634_523-2762
others(15): Show 
c.523-27634_523-27624dupTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8585146
chr1:8585156 A
A
 G
G
 1 a0001c0001t0006g0154
a0001c0001t0006g0154
 1 NA20300.hp2
NA20300.hp2
 intron_variant MODIFIER c.523-27633T>C
c.523-27633T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8585156
chr1:8585162 G
G
 A
A
 1 a0001c0007t0004g0044
a0001c0007t0004g0044
 1 NA18964.hp2
NA18964.hp2
 intron_variant MODIFIER c.523-27639C>T
c.523-27639C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8585162
chr1:8585166 T
T
 G
G
 1 a0001c0007t0004g0044
a0001c0007t0004g0044
 1 NA18964.hp2
NA18964.hp2
 intron_variant MODIFIER c.523-27643A>C
c.523-27643A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8585166
chr1:8585677 T
T
 A
A
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.523-28154A>T
c.523-28154A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8585677
chr1:8585746 G
G
 C
C
 1 a0001c0016t0020g0001
a0001c0016t0020g0001
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.523-28223C>G
c.523-28223C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8585746
chr1:8585757 G
G
 A
A
 90 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(87): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0006c0025t0007g0025
 90 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(87): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03453.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.523-28234C>T
c.523-28234C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8585757
chr1:8585796 T
T
 C
C
 9 a0001c0002t0002g0157
a0001c0002t0018g0002
a0001c0002t0032g0155
others(6): Show 
a0001c0002t0002g0157
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0027g0106
a0001c0005t0026g0127
a0001c0005t0034g0156
 9 HG02559.hp1
HG02622.hp1
HG02886.hp2
others(6): Show 
HG02559.hp1
HG02622.hp1
HG02886.hp2
HG02965.hp2
HG03130.hp1
HG03453.hp2
HG03579.hp1
HG03579.hp2
NA21309.hp1
 intron_variant MODIFIER c.523-28273A>G
c.523-28273A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8585796
chr1:8585902 T
T
 C
C
 1 a0001c0002t0002g0163
a0001c0002t0002g0163
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.523-28379A>G
c.523-28379A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8585902
chr1:8585961 T
T
 C
C
 1 a0001c0003t0004g0068
a0001c0003t0004g0068
 1 HG02258.hp2
HG02258.hp2
 intron_variant MODIFIER c.523-28438A>G
c.523-28438A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8585961
chr1:8586190 T
T
 G
G
 4 a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
others(1): Show 
a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0005t0026g0127
 4 HG02559.hp1
HG02965.hp2
HG03579.hp2
others(1): Show 
HG02559.hp1
HG02965.hp2
HG03579.hp2
NA21309.hp1
 intron_variant MODIFIER c.522+28371A>C
c.522+28371A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8586190
chr1:8586193 G
G
 A
A
 1 a0001c0004t0006g0146
a0001c0004t0006g0146
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.522+28368C>T
c.522+28368C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8586193
chr1:8586259 T
T
 C
C
 7 a0001c0003t0004g0017
a0001c0003t0004g0021
a0001c0003t0008g0105
others(4): Show 
a0001c0003t0004g0017
a0001c0003t0004g0021
a0001c0003t0008g0105
a0001c0003t0017g0032
a0001c0007t0001g0008
a0001c0009t0004g0016
a0001c0009t0004g0020
 7 HG00140.hp1
HG00741.hp2
HG01168.hp2
others(4): Show 
HG00140.hp1
HG00741.hp2
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG03831.hp1
HG04115.hp2
 intron_variant MODIFIER c.522+28302A>G
c.522+28302A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8586259
chr1:8586642 G
G
 T
T
 5 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(2): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
 5 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(2): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.522+27919C>A
c.522+27919C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8586642
chr1:8586657 C
C
 T
T
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.522+27904G>A
c.522+27904G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8586657
chr1:8586686 G
G
 C
C
 1 a0001c0007t0004g0044
a0001c0007t0004g0044
 1 NA18964.hp2
NA18964.hp2
 intron_variant MODIFIER c.522+27875C>G
c.522+27875C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8586686
chr1:8586801 GT
GT
 G
G
 162 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(159): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 162 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(159): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.522+27759delA
c.522+27759delA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8586801
chr1:8587141 C
C
 G
G
 9 a0001c0002t0002g0157
a0001c0002t0018g0002
a0001c0002t0032g0155
others(6): Show 
a0001c0002t0002g0157
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0027g0106
a0001c0005t0026g0127
a0001c0005t0034g0156
 9 HG02559.hp1
HG02622.hp1
HG02886.hp2
others(6): Show 
HG02559.hp1
HG02622.hp1
HG02886.hp2
HG02965.hp2
HG03130.hp1
HG03453.hp2
HG03579.hp1
HG03579.hp2
NA21309.hp1
 intron_variant MODIFIER c.522+27420G>C
c.522+27420G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8587141
chr1:8587223 T
T
 C
C
 1 a0001c0003t0012g0018
a0001c0003t0012g0018
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.522+27338A>G
c.522+27338A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8587223
chr1:8587422 A
A
 G
G
 2 a0001c0001t0003g0095
a0001c0007t0003g0099
a0001c0001t0003g0095
a0001c0007t0003g0099
 2 NA20129.hp1
NA20752.hp2
NA20129.hp1
NA20752.hp2
 intron_variant MODIFIER c.522+27139T>C
c.522+27139T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8587422
chr1:8587786 T
T
 A
A
 4 a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
others(1): Show 
a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0005t0026g0127
 4 HG02559.hp1
HG02965.hp2
HG03579.hp2
others(1): Show 
HG02559.hp1
HG02965.hp2
HG03579.hp2
NA21309.hp1
 intron_variant MODIFIER c.522+26775A>T
c.522+26775A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8587786
chr1:8587858 G
G
 C
C
 99 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(96): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0002g0157
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0004t0010g0107
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0027g0106
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0006c0025t0007g0025
 99 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(96): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03453.hp1
HG03453.hp2
HG03491.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.522+26703C>G
c.522+26703C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8587858
chr1:8587982 C
C
 T
T
 162 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(159): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 162 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(159): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.522+26579G>A
c.522+26579G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8587982
chr1:8587994 G
G
 A
A
 9 a0001c0002t0002g0157
a0001c0002t0018g0002
a0001c0002t0032g0155
others(6): Show 
a0001c0002t0002g0157
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0027g0106
a0001c0005t0026g0127
a0001c0005t0034g0156
 9 HG02559.hp1
HG02622.hp1
HG02886.hp2
others(6): Show 
HG02559.hp1
HG02622.hp1
HG02886.hp2
HG02965.hp2
HG03130.hp1
HG03453.hp2
HG03579.hp1
HG03579.hp2
NA21309.hp1
 intron_variant MODIFIER c.522+26567C>T
c.522+26567C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8587994
chr1:8588181 T
T
 C
C
 39 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(36): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0008c0017t0003g0101
a0010c0027t0003g0086
 39 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(36): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02735.hp2
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.522+26380A>G
c.522+26380A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8588181
chr1:8588381 C
C
 G
G
 1 a0001c0002t0005g0116
a0001c0002t0005g0116
 1 HG00639.hp1
HG00639.hp1
 intron_variant MODIFIER c.522+26180G>C
c.522+26180G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8588381
chr1:8588385 G
G
 C
C
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.522+26176C>G
c.522+26176C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8588385
chr1:8588521 A
A
 T
T
 1 a0001c0001t0001g0038
a0001c0001t0001g0038
 1 HG02523.hp1
HG02523.hp1
 intron_variant MODIFIER c.522+26040T>A
c.522+26040T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8588521
chr1:8588702 A
A
 G
G
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.522+25859T>C
c.522+25859T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8588702
chr1:8588819 T
T
 C
C
 9 a0001c0002t0002g0157
a0001c0002t0018g0002
a0001c0002t0032g0155
others(6): Show 
a0001c0002t0002g0157
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0027g0106
a0001c0005t0026g0127
a0001c0005t0034g0156
 9 HG02559.hp1
HG02622.hp1
HG02886.hp2
others(6): Show 
HG02559.hp1
HG02622.hp1
HG02886.hp2
HG02965.hp2
HG03130.hp1
HG03453.hp2
HG03579.hp1
HG03579.hp2
NA21309.hp1
 intron_variant MODIFIER c.522+25742A>G
c.522+25742A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8588819
chr1:8588911 G
G
 A
A
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.522+25650C>T
c.522+25650C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8588911
chr1:8589175 CACACCT
CACACCT
 C
C
 4 a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
others(1): Show 
a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0005t0026g0127
 4 HG02559.hp1
HG02965.hp2
HG03579.hp2
others(1): Show 
HG02559.hp1
HG02965.hp2
HG03579.hp2
NA21309.hp1
 intron_variant MODIFIER c.522+25380_522+2538
others(10): Show 
c.522+25380_522+25385delAGGTGT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8589175
chr1:8589555 G
G
 A
A
 4 a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
others(1): Show 
a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0005t0026g0127
 4 HG02559.hp1
HG02965.hp2
HG03579.hp2
others(1): Show 
HG02559.hp1
HG02965.hp2
HG03579.hp2
NA21309.hp1
 intron_variant MODIFIER c.522+25006C>T
c.522+25006C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8589555
chr1:8589583 G
G
 A
A
 16 a0001c0001t0003g0122
a0001c0002t0005g0110
a0001c0002t0005g0128
others(13): Show 
a0001c0001t0003g0122
a0001c0002t0005g0110
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0004t0003g0109
a0001c0004t0010g0120
a0001c0004t0022g0121
a0005c0013t0021g0023
a0005c0013t0029g0111
a0009c0021t0003g0135
 16 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(13): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02723.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03041.hp1
HG03225.hp1
HG03471.hp1
HG03471.hp2
NA18906.hp2
NA21309.hp2
 intron_variant MODIFIER c.522+24978C>T
c.522+24978C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8589583
chr1:8589675 A
A
 G
G
 8 a0001c0005t0019g0030
a0001c0010t0007g0026
a0001c0010t0007g0034
others(5): Show 
a0001c0005t0019g0030
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0006c0025t0007g0025
 8 HG02280.hp1
HG02451.hp2
HG02647.hp2
others(5): Show 
HG02280.hp1
HG02451.hp2
HG02647.hp2
HG02723.hp2
HG02809.hp2
HG02965.hp1
HG03130.hp2
HG03540.hp2
 intron_variant MODIFIER c.522+24886T>C
c.522+24886T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8589675
chr1:8589707 A
A
 T
T
 1 a0001c0001t0001g0065
a0001c0001t0001g0065
 1 HG02080.hp1
HG02080.hp1
 intron_variant MODIFIER c.522+24854T>A
c.522+24854T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8589707
chr1:8589865 G
G
 A
A
 40 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(37): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0038
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0013g0053
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0018t0001g0005
 40 HG00140.hp2
HG00280.hp1
HG00597.hp2
others(37): Show 
HG00140.hp2
HG00280.hp1
HG00597.hp2
HG00609.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01261.hp1
HG01433.hp1
HG01496.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02486.hp2
HG02523.hp1
HG02683.hp1
HG03491.hp2
HG03688.hp1
HG03831.hp2
HG04199.hp2
NA18944.hp1
NA18964.hp2
NA18967.hp1
NA18983.hp2
NA18985.hp2
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.522+24696C>T
c.522+24696C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8589865
chr1:8590126 T
T
 C
C
 90 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(87): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0006c0025t0007g0025
 90 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(87): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03453.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.522+24435A>G
c.522+24435A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8590126
chr1:8590203 G
G
 A
A
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.522+24358C>T
c.522+24358C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8590203
chr1:8590234 A
A
 C
C
 16 a0001c0001t0003g0122
a0001c0002t0005g0110
a0001c0002t0005g0128
others(13): Show 
a0001c0001t0003g0122
a0001c0002t0005g0110
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0004t0003g0109
a0001c0004t0010g0120
a0001c0004t0022g0121
a0005c0013t0021g0023
a0005c0013t0029g0111
a0009c0021t0003g0135
 16 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(13): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02723.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03041.hp1
HG03225.hp1
HG03471.hp1
HG03471.hp2
NA18906.hp2
NA21309.hp2
 intron_variant MODIFIER c.522+24327T>G
c.522+24327T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8590234
chr1:8590474 A
A
 G
G
 1 a0001c0002t0005g0114
a0001c0002t0005g0114
 1 HG02004.hp1
HG02004.hp1
 intron_variant MODIFIER c.522+24087T>C
c.522+24087T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8590474
chr1:8590524 G
G
 A
A
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.522+24037C>T
c.522+24037C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8590524
chr1:8590547 A
A
 C
C
 9 a0001c0002t0002g0157
a0001c0002t0018g0002
a0001c0002t0032g0155
others(6): Show 
a0001c0002t0002g0157
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0027g0106
a0001c0005t0026g0127
a0001c0005t0034g0156
 9 HG02559.hp1
HG02622.hp1
HG02886.hp2
others(6): Show 
HG02559.hp1
HG02622.hp1
HG02886.hp2
HG02965.hp2
HG03130.hp1
HG03453.hp2
HG03579.hp1
HG03579.hp2
NA21309.hp1
 intron_variant MODIFIER c.522+24014T>G
c.522+24014T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8590547
chr1:8590584 T
T
 C
C
 9 a0001c0002t0002g0157
a0001c0002t0018g0002
a0001c0002t0032g0155
others(6): Show 
a0001c0002t0002g0157
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0027g0106
a0001c0005t0026g0127
a0001c0005t0034g0156
 9 HG02559.hp1
HG02622.hp1
HG02886.hp2
others(6): Show 
HG02559.hp1
HG02622.hp1
HG02886.hp2
HG02965.hp2
HG03130.hp1
HG03453.hp2
HG03579.hp1
HG03579.hp2
NA21309.hp1
 intron_variant MODIFIER c.522+23977A>G
c.522+23977A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8590584
chr1:8590614 C
C
 A
A
 9 a0001c0002t0002g0157
a0001c0002t0018g0002
a0001c0002t0032g0155
others(6): Show 
a0001c0002t0002g0157
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0027g0106
a0001c0005t0026g0127
a0001c0005t0034g0156
 9 HG02559.hp1
HG02622.hp1
HG02886.hp2
others(6): Show 
HG02559.hp1
HG02622.hp1
HG02886.hp2
HG02965.hp2
HG03130.hp1
HG03453.hp2
HG03579.hp1
HG03579.hp2
NA21309.hp1
 intron_variant MODIFIER c.522+23947G>T
c.522+23947G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8590614
chr1:8590725 C
C
 T
T
 4 a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
others(1): Show 
a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0005t0026g0127
 4 HG02559.hp1
HG02965.hp2
HG03579.hp2
others(1): Show 
HG02559.hp1
HG02965.hp2
HG03579.hp2
NA21309.hp1
 intron_variant MODIFIER c.522+23836G>A
c.522+23836G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8590725
chr1:8590773 T
T
 C
C
 1 a0001c0001t0001g0073
a0001c0001t0001g0073
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.522+23788A>G
c.522+23788A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8590773
chr1:8590871 C
C
 T
T
 12 a0001c0002t0002g0157
a0001c0002t0018g0002
a0001c0002t0032g0155
others(9): Show 
a0001c0002t0002g0157
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0004t0010g0107
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0027g0106
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0016t0020g0001
 12 HG02559.hp1
HG02622.hp1
HG02683.hp2
others(9): Show 
HG02559.hp1
HG02622.hp1
HG02683.hp2
HG02886.hp2
HG02965.hp2
HG03130.hp1
HG03453.hp2
HG03579.hp1
HG03579.hp2
HG06807.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.522+23690G>A
c.522+23690G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8590871
chr1:8591094 C
C
 T
T
 5 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(2): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
 5 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(2): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.522+23467G>A
c.522+23467G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8591094
chr1:8591426 T
T
 G
G
 1 a0001c0011t0007g0028
a0001c0011t0007g0028
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.522+23135A>C
c.522+23135A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8591426
chr1:8591428 T
T
 TA
TA
 46 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(43): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0030g0143
a0001c0001t0036g0194
a0001c0002t0013g0053
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0004g0044
a0001c0007t0004g0047
 46 HG00140.hp2
HG00280.hp1
HG00597.hp2
others(43): Show 
HG00140.hp2
HG00280.hp1
HG00597.hp2
HG00609.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01261.hp1
HG01433.hp1
HG01496.hp2
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02258.hp1
HG02486.hp2
HG02523.hp1
HG02683.hp1
HG03491.hp2
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
NA18944.hp1
NA18964.hp2
NA18967.hp1
NA18983.hp1
NA18983.hp2
NA18985.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp1
NA20905.hp1
NA21309.hp2
 intron_variant MODIFIER c.522+23132dupT
c.522+23132dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8591428
chr1:8591523 T
T
 A
A
 90 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(87): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0006c0025t0007g0025
 90 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(87): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03453.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.522+23038A>T
c.522+23038A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8591523
chr1:8591600 A
A
 T
T
 1 a0001c0003t0004g0068
a0001c0003t0004g0068
 1 HG02258.hp2
HG02258.hp2
 intron_variant MODIFIER c.522+22961T>A
c.522+22961T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8591600
chr1:8591601 C
C
 T
T
 3 a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
 3 HG02145.hp1
HG02970.hp2
HG06807.hp1
HG02145.hp1
HG02970.hp2
HG06807.hp1
 intron_variant MODIFIER c.522+22960G>A
c.522+22960G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8591601
chr1:8591713 C
C
 T
T
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.522+22848G>A
c.522+22848G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8591713
chr1:8592009 A
A
 C
C
 1 a0001c0005t0019g0030
a0001c0005t0019g0030
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.522+22552T>G
c.522+22552T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8592009
chr1:8592037 A
A
 T
T
 1 a0001c0001t0023g0113
a0001c0001t0023g0113
 1 HG00544.hp1
HG00544.hp1
 intron_variant MODIFIER c.522+22524T>A
c.522+22524T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8592037
chr1:8592079 C
C
 T
T
 9 a0001c0002t0002g0157
a0001c0002t0018g0002
a0001c0002t0032g0155
others(6): Show 
a0001c0002t0002g0157
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0027g0106
a0001c0005t0026g0127
a0001c0005t0034g0156
 9 HG02559.hp1
HG02622.hp1
HG02886.hp2
others(6): Show 
HG02559.hp1
HG02622.hp1
HG02886.hp2
HG02965.hp2
HG03130.hp1
HG03453.hp2
HG03579.hp1
HG03579.hp2
NA21309.hp1
 intron_variant MODIFIER c.522+22482G>A
c.522+22482G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8592079
chr1:8592095 A
A
 G
G
 42 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(39): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0013g0053
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0018t0001g0005
 42 HG00140.hp2
HG00280.hp1
HG00597.hp2
others(39): Show 
HG00140.hp2
HG00280.hp1
HG00597.hp2
HG00609.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01261.hp1
HG01433.hp1
HG01496.hp2
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02486.hp2
HG02523.hp1
HG02683.hp1
HG03491.hp2
HG03688.hp1
HG03831.hp2
HG04184.hp2
HG04199.hp2
NA18944.hp1
NA18964.hp2
NA18967.hp1
NA18983.hp2
NA18985.hp2
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.522+22466T>C
c.522+22466T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8592095
chr1:8592325 G
G
 A
A
 200 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(197): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0152
a0001c0002t0002g0157
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0002t0033g0186
a0001c0002t0035g0160
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0014t0002g0191
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0001c0023t0002g0175
a0001c0024t0002g0182
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 200 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(197): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp1
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.522+22236C>T
c.522+22236C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8592325
chr1:8592462 G
G
 A
A
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.522+22099C>T
c.522+22099C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8592462
chr1:8592533 A
A
 G
G
 1 a0001c0003t0004g0014
a0001c0003t0004g0014
 1 HG01358.hp2
HG01358.hp2
 intron_variant MODIFIER c.522+22028T>C
c.522+22028T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8592533
chr1:8592551 C
C
 A
A
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.522+22010G>T
c.522+22010G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8592551
chr1:8592650 A
A
 C
C
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.522+21911T>G
c.522+21911T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8592650
chr1:8592776 A
A
 G
G
 1 a0001c0001t0001g0051
a0001c0001t0001g0051
 1 HG02129.hp2
HG02129.hp2
 intron_variant MODIFIER c.522+21785T>C
c.522+21785T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8592776
chr1:8592853 C
C
 T
T
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.522+21708G>A
c.522+21708G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8592853
chr1:8593023 T
T
 A
A
 9 a0001c0002t0002g0157
a0001c0002t0018g0002
a0001c0002t0032g0155
others(6): Show 
a0001c0002t0002g0157
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0027g0106
a0001c0005t0026g0127
a0001c0005t0034g0156
 9 HG02559.hp1
HG02622.hp1
HG02886.hp2
others(6): Show 
HG02559.hp1
HG02622.hp1
HG02886.hp2
HG02965.hp2
HG03130.hp1
HG03453.hp2
HG03579.hp1
HG03579.hp2
NA21309.hp1
 intron_variant MODIFIER c.522+21538A>T
c.522+21538A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8593023
chr1:8593171 C
C
 T
T
 5 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(2): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
 5 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(2): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.522+21390G>A
c.522+21390G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8593171
chr1:8593286 A
A
 C
C
 1 a0002c0006t0003g0091
a0002c0006t0003g0091
 1 NA19002.hp2
NA19002.hp2
 intron_variant MODIFIER c.522+21275T>G
c.522+21275T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8593286
chr1:8593357 C
C
 T
T
 9 a0001c0002t0002g0157
a0001c0002t0018g0002
a0001c0002t0032g0155
others(6): Show 
a0001c0002t0002g0157
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0027g0106
a0001c0005t0026g0127
a0001c0005t0034g0156
 9 HG02559.hp1
HG02622.hp1
HG02886.hp2
others(6): Show 
HG02559.hp1
HG02622.hp1
HG02886.hp2
HG02965.hp2
HG03130.hp1
HG03453.hp2
HG03579.hp1
HG03579.hp2
NA21309.hp1
 intron_variant MODIFIER c.522+21204G>A
c.522+21204G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8593357
chr1:8593425 T
T
 A
A
 107 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(104): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0002g0157
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0004t0010g0107
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0006c0025t0007g0025
a0007c0020t0039g0197
 107 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(104): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.522+21136A>T
c.522+21136A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8593425
chr1:8593490 GCTCCTTA
others(5): Show 
GCTCCTTATTTGC
 G
G
 26 a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
others(23): Show 
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0030g0143
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0006g0145
a0001c0003t0011g0096
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0008c0017t0003g0101
a0010c0027t0003g0086
 26 HG00280.hp2
HG00609.hp1
HG01496.hp1
others(23): Show 
HG00280.hp2
HG00609.hp1
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG03491.hp1
HG03688.hp2
HG04115.hp1
NA18944.hp2
NA18964.hp1
NA18983.hp1
NA18985.hp1
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.522+21059_522+2107
others(16): Show 
c.522+21059_522+21070delGCAAATAAGGAG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8593490
chr1:8593674 C
C
 A
A
 97 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(94): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0006c0025t0007g0025
a0007c0020t0039g0197
 97 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(94): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03453.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.522+20887G>T
c.522+20887G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8593674
chr1:8593808 T
T
 C
C
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.522+20753A>G
c.522+20753A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8593808
chr1:8594047 C
C
 T
T
 1 a0001c0001t0003g0122
a0001c0001t0003g0122
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.522+20514G>A
c.522+20514G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8594047
chr1:8594048 G
G
 A
A
 1 a0001c0002t0005g0114
a0001c0002t0005g0114
 1 HG02004.hp1
HG02004.hp1
 intron_variant MODIFIER c.522+20513C>T
c.522+20513C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8594048
chr1:8594246 G
G
 A
A
 98 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(95): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0006c0025t0007g0025
a0007c0020t0039g0197
 98 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(95): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.522+20315C>T
c.522+20315C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8594246
chr1:8594265 G
G
 C
C
 1 a0001c0002t0018g0002
a0001c0002t0018g0002
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.522+20296C>G
c.522+20296C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8594265
chr1:8594560 T
T
 C
C
 3 a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0031g0144
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0031g0144
 3 HG02523.hp2
NA18973.hp2
NA18993.hp2
HG02523.hp2
NA18973.hp2
NA18993.hp2
 intron_variant MODIFIER c.522+20001A>G
c.522+20001A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8594560
chr1:8594583 A
A
 G
G
 5 a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0070
others(2): Show 
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0070
a0001c0001t0001g0076
a0001c0001t0001g0077
 5 HG02129.hp2
NA19007.hp1
NA19009.hp1
others(2): Show 
HG02129.hp2
NA19007.hp1
NA19009.hp1
NA19085.hp2
NA19090.hp1
 intron_variant MODIFIER c.522+19978T>C
c.522+19978T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8594583
chr1:8594658 A
A
 C
C
 162 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(159): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 162 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(159): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.522+19903T>G
c.522+19903T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8594658
chr1:8594705 G
G
 A
A
 39 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(36): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0008c0017t0003g0101
a0010c0027t0003g0086
 39 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(36): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02735.hp2
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.522+19856C>T
c.522+19856C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8594705
chr1:8594752 A
A
 C
C
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.522+19809T>G
c.522+19809T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8594752
chr1:8594872 C
C
 T
T
 4 a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0031g0144
others(1): Show 
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0031g0144
a0001c0003t0004g0012
 4 HG00544.hp2
HG02523.hp2
NA18973.hp2
others(1): Show 
HG00544.hp2
HG02523.hp2
NA18973.hp2
NA18993.hp2
 intron_variant MODIFIER c.522+19689G>A
c.522+19689G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8594872
chr1:8594875 G
G
 A
A
 4 a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
others(1): Show 
a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0005t0026g0127
 4 HG02559.hp1
HG02965.hp2
HG03579.hp2
others(1): Show 
HG02559.hp1
HG02965.hp2
HG03579.hp2
NA21309.hp1
 intron_variant MODIFIER c.522+19686C>T
c.522+19686C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8594875
chr1:8595053 C
C
 A
A
 3 a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
 3 HG02109.hp1
HG02257.hp2
HG03209.hp1
HG02109.hp1
HG02257.hp2
HG03209.hp1
 intron_variant MODIFIER c.522+19508G>T
c.522+19508G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8595053
chr1:8595158 C
C
 CA
CA
 6 a0001c0001t0001g0055
a0001c0001t0001g0069
a0001c0002t0005g0134
others(3): Show 
a0001c0001t0001g0055
a0001c0001t0001g0069
a0001c0002t0005g0134
a0001c0003t0017g0032
a0001c0005t0019g0030
a0003c0008t0001g0071
 6 HG02818.hp2
HG03041.hp2
HG03130.hp2
others(3): Show 
HG02818.hp2
HG03041.hp2
HG03130.hp2
HG04115.hp2
HG04199.hp2
NA19000.hp2
 intron_variant MODIFIER c.522+19402dupT
c.522+19402dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8595158
chr1:8595158 CA
CA
 C
C
 8 a0001c0001t0001g0067
a0001c0002t0018g0002
a0001c0003t0004g0041
others(5): Show 
a0001c0001t0001g0067
a0001c0002t0018g0002
a0001c0003t0004g0041
a0001c0004t0010g0107
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0027g0106
a0001c0005t0026g0127
 8 HG02559.hp1
HG02886.hp2
HG02965.hp2
others(5): Show 
HG02559.hp1
HG02886.hp2
HG02965.hp2
HG03453.hp2
HG03579.hp2
HG03831.hp2
NA18939.hp1
NA21309.hp1
 intron_variant MODIFIER c.522+19402delT
c.522+19402delT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8595158
chr1:8595251 T
T
 G
G
 2 a0001c0001t0001g0040
a0001c0001t0036g0194
a0001c0001t0001g0040
a0001c0001t0036g0194
 2 HG02155.hp1
NA18985.hp2
HG02155.hp1
NA18985.hp2
 intron_variant MODIFIER c.522+19310A>C
c.522+19310A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8595251
chr1:8595360 A
A
 G
G
 162 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(159): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 162 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(159): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.522+19201T>C
c.522+19201T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8595360
chr1:8595436 A
A
 G
G
 64 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(61): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0005c0013t0021g0023
a0005c0013t0029g0111
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 64 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(61): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG01167.hp1
HG01175.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02293.hp1
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02723.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02965.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
NA18906.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.522+19125T>C
c.522+19125T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8595436
chr1:8595680 C
C
 T
T
 1 a0001c0001t0001g0065
a0001c0001t0001g0065
 1 HG02080.hp1
HG02080.hp1
 intron_variant MODIFIER c.522+18881G>A
c.522+18881G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8595680
chr1:8595683 A
A
 C
C
 9 a0001c0002t0002g0157
a0001c0002t0018g0002
a0001c0002t0032g0155
others(6): Show 
a0001c0002t0002g0157
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0027g0106
a0001c0005t0026g0127
a0001c0005t0034g0156
 9 HG02559.hp1
HG02622.hp1
HG02886.hp2
others(6): Show 
HG02559.hp1
HG02622.hp1
HG02886.hp2
HG02965.hp2
HG03130.hp1
HG03453.hp2
HG03579.hp1
HG03579.hp2
NA21309.hp1
 intron_variant MODIFIER c.522+18878T>G
c.522+18878T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8595683
chr1:8595892 A
A
 C
C
 2 a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0084
a0001c0007t0003g0098
 2 NA18983.hp1
NA19000.hp1
NA18983.hp1
NA19000.hp1
 intron_variant MODIFIER c.522+18669T>G
c.522+18669T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8595892
chr1:8596014 C
C
 G
G
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.522+18547G>C
c.522+18547G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8596014
chr1:8596051 T
T
 C
C
 9 a0001c0002t0002g0157
a0001c0002t0018g0002
a0001c0002t0032g0155
others(6): Show 
a0001c0002t0002g0157
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0027g0106
a0001c0005t0026g0127
a0001c0005t0034g0156
 9 HG02559.hp1
HG02622.hp1
HG02886.hp2
others(6): Show 
HG02559.hp1
HG02622.hp1
HG02886.hp2
HG02965.hp2
HG03130.hp1
HG03453.hp2
HG03579.hp1
HG03579.hp2
NA21309.hp1
 intron_variant MODIFIER c.522+18510A>G
c.522+18510A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8596051
chr1:8596168 G
G
 A
A
 39 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(36): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0008c0017t0003g0101
a0010c0027t0003g0086
 39 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(36): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02735.hp2
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.522+18393C>T
c.522+18393C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8596168
chr1:8596375 C
C
 T
T
 107 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(104): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0002g0157
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0004t0010g0107
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0006c0025t0007g0025
a0007c0020t0039g0197
 107 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(104): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.522+18186G>A
c.522+18186G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8596375
chr1:8596377 G
G
 A
A
 1 a0001c0002t0002g0161
a0001c0002t0002g0161
 1 HG02027.hp2
HG02027.hp2
 intron_variant MODIFIER c.522+18184C>T
c.522+18184C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8596377
chr1:8596441 C
C
 A
A
 1 a0001c0004t0025g0080
a0001c0004t0025g0080
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.522+18120G>T
c.522+18120G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8596441
chr1:8596483 C
C
 T
T
 9 a0001c0002t0002g0157
a0001c0002t0018g0002
a0001c0002t0032g0155
others(6): Show 
a0001c0002t0002g0157
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0027g0106
a0001c0005t0026g0127
a0001c0005t0034g0156
 9 HG02559.hp1
HG02622.hp1
HG02886.hp2
others(6): Show 
HG02559.hp1
HG02622.hp1
HG02886.hp2
HG02965.hp2
HG03130.hp1
HG03453.hp2
HG03579.hp1
HG03579.hp2
NA21309.hp1
 intron_variant MODIFIER c.522+18078G>A
c.522+18078G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8596483
chr1:8596620 G
G
 A
A
 1 a0001c0003t0004g0068
a0001c0003t0004g0068
 1 HG02258.hp2
HG02258.hp2
 intron_variant MODIFIER c.522+17941C>T
c.522+17941C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8596620
chr1:8596672 C
C
 CT
CT
 57 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(54): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0006g0181
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0149
a0001c0002t0002g0151
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0028g0133
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0010g0120
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0005c0013t0021g0023
a0005c0013t0029g0111
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 57 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(54): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG01167.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02080.hp2
HG02109.hp2
HG02132.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02523.hp2
HG02602.hp1
HG02723.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03041.hp1
HG03225.hp1
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03516.hp2
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
NA18906.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.522+17888dupA
c.522+17888dupA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8596672
chr1:8596672 C
C
 CTT
CTT
 89 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(86): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0003g0098
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0006c0025t0007g0025
 89 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(86): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03453.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.522+17887_522+1788
others(6): Show 
c.522+17887_522+17888dupAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8596672
chr1:8596765 A
A
 G
G
 4 a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0014
others(1): Show 
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0014
a0001c0003t0004g0036
 4 HG01358.hp2
HG02698.hp1
HG03654.hp2
others(1): Show 
HG01358.hp2
HG02698.hp1
HG03654.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.522+17796T>C
c.522+17796T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8596765
chr1:8597090 A
A
 AT
AT
 89 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(86): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0091
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0006c0025t0007g0025
 89 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(86): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03453.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.522+17470dupA
c.522+17470dupA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8597090
chr1:8597090 A
A
 ATT
ATT
 7 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(4): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0019g0030
a0001c0005t0034g0156
a0001c0009t0004g0016
 7 HG01255.hp1
HG02622.hp1
HG02886.hp2
others(4): Show 
HG01255.hp1
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03130.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.522+17469_522+1747
others(6): Show 
c.522+17469_522+17470dupAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8597090
chr1:8597140 C
C
 T
T
 162 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(159): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 162 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(159): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.522+17421G>A
c.522+17421G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8597140
chr1:8597149 G
G
 A
A
 9 a0001c0002t0002g0157
a0001c0002t0018g0002
a0001c0002t0032g0155
others(6): Show 
a0001c0002t0002g0157
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0027g0106
a0001c0005t0026g0127
a0001c0005t0034g0156
 9 HG02559.hp1
HG02622.hp1
HG02886.hp2
others(6): Show 
HG02559.hp1
HG02622.hp1
HG02886.hp2
HG02965.hp2
HG03130.hp1
HG03453.hp2
HG03579.hp1
HG03579.hp2
NA21309.hp1
 intron_variant MODIFIER c.522+17412C>T
c.522+17412C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8597149
chr1:8597506 A
A
 G
G
 2 a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0041
a0001c0003t0004g0042
 2 NA18939.hp1
NA18993.hp1
NA18939.hp1
NA18993.hp1
 intron_variant MODIFIER c.522+17055T>C
c.522+17055T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8597506
chr1:8597509 T
T
 C
C
 20 a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
others(17): Show 
a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0004t0022g0121
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
a0009c0021t0003g0135
 20 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(17): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02970.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03516.hp1
HG06807.hp1
NA18906.hp2
 intron_variant MODIFIER c.522+17052A>G
c.522+17052A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8597509
chr1:8597551 A
A
 G
G
 3 a0001c0001t0001g0038
a0001c0001t0001g0046
a0001c0001t0001g0052
a0001c0001t0001g0038
a0001c0001t0001g0046
a0001c0001t0001g0052
 3 HG02165.hp2
HG02523.hp1
NA18983.hp2
HG02165.hp2
HG02523.hp1
NA18983.hp2
 intron_variant MODIFIER c.522+17010T>C
c.522+17010T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8597551
chr1:8597730 C
C
 T
T
 2 a0001c0004t0040g0199
a0007c0020t0039g0197
a0001c0004t0040g0199
a0007c0020t0039g0197
 2 HG02970.hp2
HG06807.hp1
HG02970.hp2
HG06807.hp1
 intron_variant MODIFIER c.522+16831G>A
c.522+16831G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8597730
chr1:8597785 AT
AT
 A
A
 162 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(159): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 162 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(159): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.522+16775delA
c.522+16775delA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8597785
chr1:8597798 A
A
 C
C
 1 a0001c0003t0011g0112
a0001c0003t0011g0112
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.522+16763T>G
c.522+16763T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8597798
chr1:8597832 C
C
 A
A
 1 a0001c0001t0001g0075
a0001c0001t0001g0075
 1 NA18967.hp1
NA18967.hp1
 intron_variant MODIFIER c.522+16729G>T
c.522+16729G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8597832
chr1:8598026 G
G
 A
A
 98 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(95): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0006c0025t0007g0025
a0007c0020t0039g0197
 98 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(95): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.522+16535C>T
c.522+16535C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8598026
chr1:8598370 G
G
 C
C
 4 a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
others(1): Show 
a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0005t0026g0127
 4 HG02559.hp1
HG02965.hp2
HG03579.hp2
others(1): Show 
HG02559.hp1
HG02965.hp2
HG03579.hp2
NA21309.hp1
 intron_variant MODIFIER c.522+16191C>G
c.522+16191C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8598370
chr1:8598383 C
C
 T
T
 82 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(79): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
 82 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(79): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02896.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03453.hp1
HG03491.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.522+16178G>A
c.522+16178G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8598383
chr1:8598389 G
G
 C
C
 1 a0001c0016t0020g0001
a0001c0016t0020g0001
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.522+16172C>G
c.522+16172C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8598389
chr1:8598418 C
C
 T
T
 40 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(37): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0001c0024t0002g0182
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0008c0017t0003g0101
a0010c0027t0003g0086
 40 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(37): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02735.hp2
HG02896.hp2
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.522+16143G>A
c.522+16143G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8598418
chr1:8598466 G
G
 A
A
 2 a0001c0002t0002g0166
a0001c0002t0002g0174
a0001c0002t0002g0166
a0001c0002t0002g0174
 2 NA18946.hp2
NA19070.hp1
NA18946.hp2
NA19070.hp1
 intron_variant MODIFIER c.522+16095C>T
c.522+16095C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8598466
chr1:8598468 T
T
 G
G
 90 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(87): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0006c0025t0007g0025
 90 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(87): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03453.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.522+16093A>C
c.522+16093A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8598468
chr1:8598653 T
T
 C
C
 90 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(87): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0006c0025t0007g0025
 90 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(87): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03453.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.522+15908A>G
c.522+15908A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8598653
chr1:8598775 T
T
 C
C
 1 a0001c0003t0011g0112
a0001c0003t0011g0112
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.522+15786A>G
c.522+15786A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8598775
chr1:8598965 G
G
 A
A
 1 a0001c0015t0001g0009
a0001c0015t0001g0009
 1 HG02896.hp1
HG02896.hp1
 intron_variant MODIFIER c.522+15596C>T
c.522+15596C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8598965
chr1:8599223 T
T
 A
A
 98 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(95): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0006c0025t0007g0025
a0007c0020t0039g0197
 98 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(95): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.522+15338A>T
c.522+15338A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8599223
chr1:8599340 C
C
 T
T
 4 a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
others(1): Show 
a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0005t0026g0127
 4 HG02559.hp1
HG02965.hp2
HG03579.hp2
others(1): Show 
HG02559.hp1
HG02965.hp2
HG03579.hp2
NA21309.hp1
 intron_variant MODIFIER c.522+15221G>A
c.522+15221G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8599340
chr1:8599436 T
T
 C
C
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.522+15125A>G
c.522+15125A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8599436
chr1:8599594 G
G
 A
A
 1 a0001c0005t0026g0127
a0001c0005t0026g0127
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.522+14967C>T
c.522+14967C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8599594
chr1:8599655 A
A
 G
G
 102 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(99): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0002g0157
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0006c0025t0007g0025
a0007c0020t0039g0197
 102 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(99): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.522+14906T>C
c.522+14906T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8599655
chr1:8600086 C
C
 A
A
 1 a0001c0004t0010g0142
a0001c0004t0010g0142
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.522+14475G>T
c.522+14475G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8600086
chr1:8600126 C
C
 G
G
 5 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(2): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
 5 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(2): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.522+14435G>C
c.522+14435G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8600126
chr1:8600221 A
A
 T
T
 1 a0001c0002t0002g0183
a0001c0002t0002g0183
 1 HG01934.hp2
HG01934.hp2
 intron_variant MODIFIER c.522+14340T>A
c.522+14340T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8600221
chr1:8600750 C
C
 CT
CT
 6 a0001c0001t0003g0087
a0001c0002t0018g0002
a0001c0004t0010g0142
others(3): Show 
a0001c0001t0003g0087
a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0005t0026g0127
a0002c0006t0003g0097
 6 HG02559.hp1
HG02965.hp2
HG03579.hp2
others(3): Show 
HG02559.hp1
HG02965.hp2
HG03579.hp2
HG03669.hp1
NA18944.hp2
NA21309.hp1
 intron_variant MODIFIER c.522+13810dupA
c.522+13810dupA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8600750
chr1:8600750 CT
CT
 C
C
 53 a0001c0001t0001g0033
a0001c0001t0003g0122
a0001c0001t0006g0153
others(50): Show 
a0001c0001t0001g0033
a0001c0001t0003g0122
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0005g0110
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0002t0035g0160
a0001c0004t0003g0109
a0001c0004t0010g0120
a0001c0004t0022g0121
a0001c0014t0002g0191
a0001c0023t0002g0175
a0001c0024t0002g0182
a0005c0013t0021g0023
a0005c0013t0029g0111
a0009c0021t0003g0135
 53 HG00741.hp1
HG01167.hp1
HG01168.hp1
others(50): Show 
HG00741.hp1
HG01167.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp2
HG01255.hp2
HG01261.hp2
HG01361.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp2
HG01981.hp2
HG02027.hp2
HG02080.hp2
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp2
HG02257.hp1
HG02293.hp2
HG02451.hp1
HG02559.hp2
HG02602.hp1
HG02698.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG03041.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03516.hp2
HG03540.hp1
HG03654.hp1
HG03669.hp2
HG04184.hp1
HG04199.hp1
HG04228.hp1
NA18906.hp2
NA18939.hp2
NA18946.hp2
NA18967.hp2
NA19070.hp1
NA19085.hp1
NA20300.hp2
NA20752.hp1
NA21309.hp2
 intron_variant MODIFIER c.522+13810delA
c.522+13810delA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8600750
chr1:8600750 CTTT
CTTT
 C
C
 6 a0001c0001t0001g0046
a0001c0001t0001g0057
a0001c0001t0001g0069
others(3): Show 
a0001c0001t0001g0046
a0001c0001t0001g0057
a0001c0001t0001g0069
a0001c0003t0004g0014
a0001c0004t0027g0106
a0001c0009t0004g0016
 6 HG01169.hp2
HG01255.hp1
HG01358.hp2
others(3): Show 
HG01169.hp2
HG01255.hp1
HG01358.hp2
HG02165.hp2
HG02886.hp2
NA19000.hp2
 intron_variant MODIFIER c.522+13808_522+1381
others(7): Show 
c.522+13808_522+13810delAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8600750
chr1:8600750 CTTTT
CTTTT
 C
C
 93 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(90): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0006c0025t0007g0025
a0007c0020t0039g0197
 93 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(90): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.522+13807_522+1381
others(8): Show 
c.522+13807_522+13810delAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8600750
chr1:8600781 A
A
 G
G
 162 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(159): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 162 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(159): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.522+13780T>C
c.522+13780T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8600781
chr1:8600811 G
G
 A
A
 1 a0001c0004t0010g0120
a0001c0004t0010g0120
 1 HG01167.hp1
HG01167.hp1
 intron_variant MODIFIER c.522+13750C>T
c.522+13750C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8600811
chr1:8600973 C
C
 A
A
 1 a0001c0001t0001g0050
a0001c0001t0001g0050
 1 NA19005.hp1
NA19005.hp1
 intron_variant MODIFIER c.522+13588G>T
c.522+13588G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8600973
chr1:8601017 C
C
 CT
CT
 13 a0001c0001t0003g0087
a0001c0001t0006g0181
a0001c0002t0002g0150
others(10): Show 
a0001c0001t0003g0087
a0001c0001t0006g0181
a0001c0002t0002g0150
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0005g0116
a0001c0002t0018g0002
a0001c0024t0002g0182
a0002c0006t0003g0090
a0002c0006t0003g0097
 13 HG00639.hp1
HG01168.hp1
HG01169.hp1
others(10): Show 
HG00639.hp1
HG01168.hp1
HG01169.hp1
HG01255.hp2
HG01981.hp2
HG02165.hp1
HG02559.hp1
HG02896.hp2
HG03669.hp1
HG04115.hp1
NA18944.hp2
NA18946.hp2
NA18967.hp2
 intron_variant MODIFIER c.522+13543dupA
c.522+13543dupA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8601017
chr1:8601017 C
C
 CTT
CTT
 10 a0001c0004t0003g0109
a0001c0004t0040g0199
a0001c0005t0009g0200
others(7): Show 
a0001c0004t0003g0109
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0001c0016t0020g0001
a0007c0020t0039g0197
 10 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(7): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
NA20129.hp2
NA21309.hp2
 intron_variant MODIFIER c.522+13542_522+1354
others(6): Show 
c.522+13542_522+13543dupAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8601017
chr1:8601017 C
C
 CTTT
CTTT
 36 a0001c0002t0005g0125
a0001c0003t0004g0007
a0001c0003t0004g0010
others(33): Show 
a0001c0002t0005g0125
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0006c0025t0007g0025
 36 HG00140.hp1
HG00544.hp2
HG00639.hp2
others(33): Show 
HG00140.hp1
HG00544.hp2
HG00639.hp2
HG00741.hp2
HG01168.hp2
HG01255.hp1
HG01358.hp2
HG01361.hp2
HG01981.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02602.hp2
HG02622.hp2
HG02647.hp2
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG03130.hp2
HG03195.hp2
HG03453.hp1
HG03540.hp2
HG03654.hp2
HG04115.hp2
HG06807.hp2
NA18939.hp1
NA18946.hp1
NA18973.hp1
NA18993.hp1
NA19009.hp2
NA19043.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.522+13541_522+1354
others(7): Show 
c.522+13541_522+13543dupAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8601017
chr1:8601017 C
C
 CTTTT
CTTTT
 46 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(43): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0075
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0013g0053
a0001c0003t0004g0021
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0018t0001g0005
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
 46 HG00140.hp2
HG00280.hp1
HG00597.hp2
others(43): Show 
HG00140.hp2
HG00280.hp1
HG00597.hp2
HG00609.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01261.hp1
HG01433.hp1
HG01496.hp2
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02486.hp2
HG02523.hp1
HG02647.hp1
HG02683.hp1
HG02970.hp1
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03491.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04184.hp2
HG04199.hp2
NA18906.hp1
NA18944.hp1
NA18964.hp2
NA18967.hp1
NA18983.hp2
NA18985.hp2
NA19000.hp2
NA19002.hp1
NA19009.hp1
NA19074.hp1
NA19085.hp2
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.522+13540_522+1354
others(8): Show 
c.522+13540_522+13543dupAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8601017
chr1:8601017 CTTTTTT
CTTTTTT
 C
C
 5 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(2): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
 5 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(2): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.522+13538_522+1354
others(10): Show 
c.522+13538_522+13543delAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8601017
chr1:8601273 C
C
 A
A
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.522+13288G>T
c.522+13288G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8601273
chr1:8601626 C
C
 CCA
CCA
 38 a0001c0001t0001g0015
a0001c0001t0001g0051
a0001c0001t0001g0062
others(35): Show 
a0001c0001t0001g0015
a0001c0001t0001g0051
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0077
a0001c0001t0003g0122
a0001c0001t0006g0170
a0001c0002t0002g0149
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0192
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0004t0001g0049
a0001c0004t0022g0121
a0001c0005t0019g0030
a0001c0010t0007g0034
a0001c0011t0007g0028
a0003c0008t0001g0006
a0003c0008t0001g0071
a0003c0008t0001g0072
 38 HG00597.hp2
HG00609.hp2
HG01175.hp1
others(35): Show 
HG00597.hp2
HG00609.hp2
HG01175.hp1
HG01261.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG02109.hp2
HG02129.hp2
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02293.hp2
HG02451.hp2
HG02602.hp1
HG02647.hp1
HG02698.hp2
HG02735.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02965.hp1
HG02970.hp1
HG03041.hp2
HG03130.hp2
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp2
HG03540.hp1
HG04199.hp1
NA18906.hp2
NA18946.hp2
NA18967.hp2
NA19007.hp1
NA19070.hp1
NA19085.hp1
 intron_variant MODIFIER c.522+12933_522+1293
others(6): Show 
c.522+12933_522+12934dupTG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8601626
chr1:8601626 C
C
 CCACA
CCACA
 36 a0001c0001t0001g0033
a0001c0001t0001g0038
a0001c0001t0001g0040
others(33): Show 
a0001c0001t0001g0033
a0001c0001t0001g0038
a0001c0001t0001g0040
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0069
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0036g0194
a0001c0002t0002g0148
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0168
a0001c0002t0002g0179
a0001c0002t0002g0187
a0001c0002t0002g0190
a0001c0002t0002g0193
a0001c0003t0004g0010
a0001c0003t0008g0105
a0001c0004t0003g0092
a0001c0004t0010g0120
a0001c0005t0009g0200
a0001c0005t0009g0204
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0011t0007g0029
a0001c0014t0002g0191
a0001c0023t0002g0175
a0001c0024t0002g0182
 36 HG00280.hp1
HG00741.hp1
HG00741.hp2
others(33): Show 
HG00280.hp1
HG00741.hp1
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01169.hp2
HG01255.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01884.hp2
HG02027.hp1
HG02080.hp1
HG02155.hp1
HG02280.hp1
HG02451.hp1
HG02523.hp1
HG02559.hp2
HG02683.hp1
HG02818.hp1
HG02896.hp2
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG04184.hp1
HG04228.hp1
NA18939.hp2
NA18964.hp2
NA18983.hp2
NA18985.hp2
NA19000.hp2
NA19005.hp1
NA19070.hp2
NA19085.hp2
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.522+12931_522+1293
others(8): Show 
c.522+12931_522+12934dupTGTG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8601626
chr1:8601626 C
C
 CCACACA
CCACACA
 25 a0001c0001t0001g0004
a0001c0001t0001g0039
a0001c0001t0001g0043
others(22): Show 
a0001c0001t0001g0004
a0001c0001t0001g0039
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0055
a0001c0001t0001g0075
a0001c0001t0006g0184
a0001c0002t0002g0158
a0001c0002t0002g0169
a0001c0002t0002g0188
a0001c0002t0013g0053
a0001c0003t0004g0036
a0001c0003t0012g0018
a0001c0004t0001g0003
a0001c0004t0005g0123
a0001c0004t0010g0142
a0001c0004t0040g0199
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0011t0007g0027
a0001c0015t0001g0009
 25 HG01168.hp2
HG01169.hp1
HG01255.hp1
others(22): Show 
HG01168.hp2
HG01169.hp1
HG01255.hp1
HG02004.hp2
HG02074.hp2
HG02109.hp1
HG02132.hp2
HG02165.hp2
HG02257.hp2
HG02602.hp2
HG02622.hp2
HG02698.hp1
HG02723.hp2
HG02896.hp1
HG02970.hp2
HG03209.hp1
HG03579.hp2
HG03654.hp1
HG04184.hp2
HG04199.hp2
NA18944.hp1
NA18967.hp1
NA19002.hp1
NA19074.hp1
NA20905.hp1
 intron_variant MODIFIER c.522+12929_522+1293
others(10): Show 
c.522+12929_522+12934dupTGTGTG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8601626
chr1:8601626 C
C
 CCACACAC
others(1): Show 
CCACACACA
 12 a0001c0001t0001g0059
a0001c0001t0001g0076
a0001c0002t0002g0161
others(9): Show 
a0001c0001t0001g0059
a0001c0001t0001g0076
a0001c0002t0002g0161
a0001c0002t0002g0189
a0001c0003t0004g0007
a0001c0003t0004g0014
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0010t0007g0026
a0007c0020t0039g0197
 12 HG00639.hp2
HG01168.hp1
HG01192.hp1
others(9): Show 
HG00639.hp2
HG01168.hp1
HG01192.hp1
HG01261.hp1
HG01358.hp2
HG02027.hp2
HG02280.hp2
HG02647.hp2
HG03654.hp2
HG06807.hp1
NA19043.hp2
NA19090.hp1
 intron_variant MODIFIER c.522+12927_522+1293
others(12): Show 
c.522+12927_522+12934dupTGTGTGTG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8601626
chr1:8601626 C
C
 CCACACAC
others(3): Show 
CCACACACACA
 11 a0001c0001t0001g0013
a0001c0001t0001g0037
a0001c0001t0001g0074
others(8): Show 
a0001c0001t0001g0013
a0001c0001t0001g0037
a0001c0001t0001g0074
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0011g0108
a0001c0003t0017g0032
a0001c0009t0041g0198
a0002c0026t0008g0140
a0004c0012t0008g0137
a0004c0012t0008g0138
 11 HG01192.hp2
HG01981.hp1
HG02145.hp1
others(8): Show 
HG01192.hp2
HG01981.hp1
HG02145.hp1
HG02258.hp2
HG02976.hp1
HG02976.hp2
HG03195.hp1
HG04115.hp2
HG06807.hp2
NA18906.hp1
NA19009.hp2
 intron_variant MODIFIER c.522+12925_522+1293
others(14): Show 
c.522+12925_522+12934dupTGTGTGTGTG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8601626
chr1:8601626 C
C
 CCACACAC
others(5): Show 
CCACACACACACA
 3 a0001c0003t0004g0017
a0001c0010t0013g0024
a0006c0025t0007g0025
a0001c0003t0004g0017
a0001c0010t0013g0024
a0006c0025t0007g0025
 3 HG00140.hp1
HG02809.hp2
HG03540.hp2
HG00140.hp1
HG02809.hp2
HG03540.hp2
 intron_variant MODIFIER c.522+12923_522+1293
others(16): Show 
c.522+12923_522+12934dupTGTGTGTGTGTG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8601626
chr1:8601626 C
C
 CCACACAC
others(7): Show 
CCACACACACACACA
 2 a0001c0007t0001g0008
a0002c0006t0003g0139
a0001c0007t0001g0008
a0002c0006t0003g0139
 2 HG01361.hp2
HG03831.hp1
HG01361.hp2
HG03831.hp1
 intron_variant MODIFIER c.522+12921_522+1293
others(18): Show 
c.522+12921_522+12934dupTGTGTGTGTGTGTG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8601626
chr1:8601626 CCA
CCA
 C
C
 8 a0001c0002t0002g0164
a0001c0002t0002g0180
a0001c0002t0005g0110
others(5): Show 
a0001c0002t0002g0164
a0001c0002t0002g0180
a0001c0002t0005g0110
a0001c0002t0018g0002
a0001c0002t0035g0160
a0001c0004t0003g0109
a0005c0013t0021g0023
a0005c0013t0029g0111
 8 HG02080.hp2
HG02129.hp1
HG02559.hp1
others(5): Show 
HG02080.hp2
HG02129.hp1
HG02559.hp1
HG02723.hp1
HG03041.hp1
HG03471.hp1
HG03669.hp2
NA21309.hp2
 intron_variant MODIFIER c.522+12933_522+1293
others(6): Show 
c.522+12933_522+12934delTG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8601626
chr1:8601626 CCACA
CCACA
 C
C
 9 a0001c0001t0001g0073
a0001c0003t0004g0012
a0001c0003t0004g0019
others(6): Show 
a0001c0001t0001g0073
a0001c0003t0004g0012
a0001c0003t0004g0019
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0005t0026g0127
a0001c0016t0020g0001
a0001c0019t0014g0119
a0003c0008t0001g0031
 9 HG00544.hp2
HG03139.hp1
HG03139.hp2
others(6): Show 
HG00544.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
NA18939.hp1
NA18973.hp1
NA18993.hp1
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.522+12931_522+1293
others(8): Show 
c.522+12931_522+12934delTGTG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8601626
chr1:8601626 CCACACA
CCACACA
 C
C
 6 a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0016g0054
others(3): Show 
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0016g0054
a0001c0003t0004g0011
a0001c0004t0005g0079
a0001c0022t0008g0082
 6 HG00280.hp2
HG02293.hp1
HG02735.hp2
others(3): Show 
HG00280.hp2
HG02293.hp1
HG02735.hp2
HG03688.hp2
NA18946.hp1
NA19007.hp2
 intron_variant MODIFIER c.522+12929_522+1293
others(10): Show 
c.522+12929_522+12934delTGTGTG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8601626
chr1:8601626 CCACACAC
others(1): Show 
CCACACACA
 C
C
 32 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(29): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0003t0011g0112
a0001c0004t0006g0146
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0008c0017t0003g0101
a0010c0027t0003g0086
 32 HG00597.hp1
HG00609.hp1
HG00639.hp1
others(29): Show 
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02523.hp2
HG02683.hp2
HG03491.hp1
HG03669.hp1
HG04115.hp1
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.522+12927_522+1293
others(12): Show 
c.522+12927_522+12934delTGTGTGTG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8601626
chr1:8601626 CCACACAC
others(3): Show 
CCACACACACA
 C
C
 2 a0001c0004t0005g0083
a0001c0004t0025g0080
a0001c0004t0005g0083
a0001c0004t0025g0080
 2 HG01433.hp2
HG04228.hp2
HG01433.hp2
HG04228.hp2
 intron_variant MODIFIER c.522+12925_522+1293
others(14): Show 
c.522+12925_522+12934delTGTGTGTGTG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8601626
chr1:8601626 CCACACAC
others(13): Show 
CCACACACACACACACACACA
 C
C
 1 a0001c0001t0023g0113
a0001c0001t0023g0113
 1 HG00544.hp1
HG00544.hp1
 intron_variant MODIFIER c.522+12915_522+1293
others(24): Show 
c.522+12915_522+12934delTGTGTGTGTGTGTGTGTGTG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8601626
chr1:8601663 CACACACA
others(3): Show 
CACACACACAT
 C
C
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.522+12888_522+1289
others(14): Show 
c.522+12888_522+12897delATGTGTGTGT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8601663
chr1:8601681 C
C
 T
T
 5 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(2): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
 5 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(2): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.522+12880G>A
c.522+12880G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8601681
chr1:8601736 A
A
 AAC
AAC
 10 a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
others(7): Show 
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0023g0113
a0001c0001t0031g0144
a0001c0002t0002g0177
a0001c0002t0002g0179
a0001c0002t0002g0183
a0001c0002t0005g0130
a0001c0002t0018g0002
 10 HG00544.hp1
HG00597.hp1
HG01934.hp2
others(7): Show 
HG00544.hp1
HG00597.hp1
HG01934.hp2
HG02523.hp2
HG02559.hp1
HG02809.hp1
HG03209.hp2
HG03516.hp2
NA18973.hp2
NA18993.hp2
 intron_variant MODIFIER c.522+12823_522+1282
others(6): Show 
c.522+12823_522+12824dupGT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8601736
chr1:8601736 A
A
 AACAC
AACAC
 10 a0001c0001t0003g0087
a0001c0001t0016g0054
a0001c0001t0037g0196
others(7): Show 
a0001c0001t0003g0087
a0001c0001t0016g0054
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0025g0080
a0001c0022t0008g0082
a0002c0006t0003g0094
a0008c0017t0003g0101
 10 HG00280.hp2
HG01433.hp2
HG01515.hp1
others(7): Show 
HG00280.hp2
HG01433.hp2
HG01515.hp1
HG01517.hp2
HG02293.hp1
HG02735.hp2
HG03669.hp1
HG04228.hp2
NA19074.hp2
NA20905.hp2
 intron_variant MODIFIER c.522+12821_522+1282
others(8): Show 
c.522+12821_522+12824dupGTGT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8601736
chr1:8601736 A
A
 AACACAC
AACACAC
 14 a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
others(11): Show 
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0030g0143
a0001c0002t0005g0116
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0002c0006t0003g0089
a0010c0027t0003g0086
 14 HG00609.hp1
HG00639.hp1
HG01934.hp1
others(11): Show 
HG00609.hp1
HG00639.hp1
HG01934.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
NA18964.hp1
NA18983.hp1
NA18985.hp1
NA19000.hp1
NA19007.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
 intron_variant MODIFIER c.522+12819_522+1282
others(10): Show 
c.522+12819_522+12824dupGTGTGT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8601736
chr1:8601736 A
A
 AACACACA
others(1): Show 
AACACACAC
 8 a0001c0001t0003g0088
a0001c0001t0003g0102
a0001c0001t0006g0181
others(5): Show 
a0001c0001t0003g0088
a0001c0001t0003g0102
a0001c0001t0006g0181
a0001c0002t0006g0145
a0001c0004t0006g0146
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0024g0081
 8 HG01496.hp1
HG02165.hp1
HG03491.hp1
others(5): Show 
HG01496.hp1
HG02165.hp1
HG03491.hp1
HG03688.hp2
HG04115.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp1
 intron_variant MODIFIER c.522+12817_522+1282
others(12): Show 
c.522+12817_522+12824dupGTGTGTGT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8601736
chr1:8601736 AAC
AAC
 A
A
 19 a0001c0001t0003g0122
a0001c0001t0003g0141
a0001c0001t0006g0153
others(16): Show 
a0001c0001t0003g0122
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0170
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0168
a0001c0002t0002g0173
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0004t0001g0003
a0001c0004t0003g0109
a0001c0004t0010g0120
a0009c0021t0003g0135
 19 HG00741.hp1
HG01167.hp1
HG01175.hp2
others(16): Show 
HG00741.hp1
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG01981.hp2
HG02109.hp2
HG02145.hp2
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02818.hp2
HG02886.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp2
HG04184.hp2
HG04199.hp1
NA18906.hp2
NA21309.hp2
 intron_variant MODIFIER c.522+12823_522+1282
others(6): Show 
c.522+12823_522+12824delGT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8601736
chr1:8601736 AACAC
AACAC
 A
A
 19 a0001c0001t0001g0043
a0001c0001t0001g0060
a0001c0001t0001g0065
others(16): Show 
a0001c0001t0001g0043
a0001c0001t0001g0060
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0003g0124
a0001c0002t0002g0148
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0169
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0180
a0001c0002t0013g0053
a0001c0004t0022g0121
a0001c0023t0002g0175
 19 HG02027.hp2
HG02074.hp2
HG02080.hp1
others(16): Show 
HG02027.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02132.hp2
HG02257.hp1
HG02486.hp2
HG02735.hp1
HG03491.hp2
HG03654.hp1
HG03831.hp2
HG04184.hp1
NA18939.hp2
NA18946.hp2
NA18967.hp2
NA19070.hp1
NA19085.hp1
NA20752.hp1
NA20905.hp1
 intron_variant MODIFIER c.522+12821_522+1282
others(8): Show 
c.522+12821_522+12824delGTGT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8601736
chr1:8601736 AACACAC
AACACAC
 A
A
 34 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(31): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0069
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0110
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0018t0001g0005
 34 HG00140.hp2
HG00280.hp1
HG00597.hp2
others(31): Show 
HG00140.hp2
HG00280.hp1
HG00597.hp2
HG00609.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01261.hp1
HG01433.hp1
HG01496.hp2
HG02004.hp2
HG02027.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02523.hp1
HG02723.hp1
HG03688.hp1
HG04199.hp2
NA18944.hp1
NA18964.hp2
NA18967.hp1
NA18983.hp2
NA18985.hp2
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp1
 intron_variant MODIFIER c.522+12819_522+1282
others(10): Show 
c.522+12819_522+12824delGTGTGT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8601736
chr1:8601736 AACACACA
others(1): Show 
AACACACAC
 A
A
 19 a0001c0001t0001g0070
a0001c0002t0002g0157
a0001c0002t0002g0164
others(16): Show 
a0001c0001t0001g0070
a0001c0002t0002g0157
a0001c0002t0002g0164
a0001c0002t0005g0125
a0001c0002t0032g0155
a0001c0002t0035g0160
a0001c0003t0011g0112
a0001c0004t0010g0142
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0034g0156
a0001c0009t0041g0198
a0005c0013t0021g0023
a0005c0013t0029g0111
a0007c0020t0039g0197
 19 HG02109.hp1
HG02129.hp1
HG02145.hp1
others(16): Show 
HG02109.hp1
HG02129.hp1
HG02145.hp1
HG02257.hp2
HG02622.hp1
HG02683.hp2
HG02818.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03209.hp1
HG03453.hp1
HG03471.hp1
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG06807.hp1
NA19009.hp1
 intron_variant MODIFIER c.522+12817_522+1282
others(12): Show 
c.522+12817_522+12824delGTGTGTGT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8601736
chr1:8601736 AACACACA
others(3): Show 
AACACACACAC
 A
A
 41 a0001c0001t0001g0037
a0001c0003t0004g0007
a0001c0003t0004g0010
others(38): Show 
a0001c0001t0001g0037
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0006c0025t0007g0025
 41 HG00140.hp1
HG00544.hp2
HG00639.hp2
others(38): Show 
HG00140.hp1
HG00544.hp2
HG00639.hp2
HG00741.hp2
HG01168.hp2
HG01255.hp1
HG01358.hp2
HG01361.hp2
HG01981.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp2
HG03453.hp2
HG03540.hp2
HG03654.hp2
HG03831.hp1
HG04115.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18946.hp1
NA18973.hp1
NA18993.hp1
NA19009.hp2
NA19043.hp2
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.522+12815_522+1282
others(14): Show 
c.522+12815_522+12824delGTGTGTGTGT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8601736
chr1:8601736 AACACACA
others(5): Show 
AACACACACACAC
 A
A
 5 a0001c0001t0001g0073
a0001c0004t0005g0123
a0001c0019t0014g0119
others(2): Show 
a0001c0001t0001g0073
a0001c0004t0005g0123
a0001c0019t0014g0119
a0004c0012t0008g0137
a0004c0012t0008g0138
 5 HG02602.hp2
HG02976.hp2
HG03139.hp1
others(2): Show 
HG02602.hp2
HG02976.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
 intron_variant MODIFIER c.522+12813_522+1282
others(16): Show 
c.522+12813_522+12824delGTGTGTGTGTGT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8601736
chr1:8601760 C
C
 G
G
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.522+12801G>C
c.522+12801G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8601760
chr1:8601766 CACACACA
others(4): Show 
CACACACACACA
 C
C
 1 a0001c0001t0001g0074
a0001c0001t0001g0074
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.522+12784_522+1279
others(15): Show 
c.522+12784_522+12794delTGTGTGTGTGT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8601766
chr1:8601772 C
C
 CACACAA
CACACAA
 2 a0001c0004t0014g0126
a0001c0005t0026g0127
a0001c0004t0014g0126
a0001c0005t0026g0127
 2 HG02965.hp2
NA21309.hp1
HG02965.hp2
NA21309.hp1
 intron_variant MODIFIER c.522+12783_522+1278
others(10): Show 
c.522+12783_522+12788dupTTGTGT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8601772
chr1:8601778 A
A
 C
C
 2 a0001c0001t0006g0154
a0002c0006t0003g0097
a0001c0001t0006g0154
a0002c0006t0003g0097
 2 NA18944.hp2
NA20300.hp2
NA18944.hp2
NA20300.hp2
 intron_variant MODIFIER c.522+12783T>G
c.522+12783T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8601778
chr1:8601790 G
G
 C
C
 1 a0001c0001t0001g0037
a0001c0001t0001g0037
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.522+12771C>G
c.522+12771C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8601790
chr1:8601878 TA
TA
 T
T
 9 a0001c0002t0002g0157
a0001c0002t0018g0002
a0001c0002t0032g0155
others(6): Show 
a0001c0002t0002g0157
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0027g0106
a0001c0005t0026g0127
a0001c0005t0034g0156
 9 HG02559.hp1
HG02622.hp1
HG02886.hp2
others(6): Show 
HG02559.hp1
HG02622.hp1
HG02886.hp2
HG02965.hp2
HG03130.hp1
HG03453.hp2
HG03579.hp1
HG03579.hp2
NA21309.hp1
 intron_variant MODIFIER c.522+12682delT
c.522+12682delT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8601878
chr1:8601905 C
C
 T
T
 1 a0002c0006t0003g0091
a0002c0006t0003g0091
 1 NA19002.hp2
NA19002.hp2
 intron_variant MODIFIER c.522+12656G>A
c.522+12656G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8601905
chr1:8601942 ACTGT
ACTGT
 A
A
 39 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(36): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0008c0017t0003g0101
a0010c0027t0003g0086
 39 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(36): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02735.hp2
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.522+12615_522+1261
others(8): Show 
c.522+12615_522+12618delACAG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8601942
chr1:8602251 C
C
 T
T
 1 a0001c0004t0010g0142
a0001c0004t0010g0142
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.522+12310G>A
c.522+12310G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8602251
chr1:8602260 G
G
 A
A
 1 a0001c0007t0001g0008
a0001c0007t0001g0008
 1 HG03831.hp1
HG03831.hp1
 intron_variant MODIFIER c.522+12301C>T
c.522+12301C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8602260
chr1:8602290 C
C
 T
T
 3 a0001c0002t0005g0110
a0005c0013t0021g0023
a0005c0013t0029g0111
a0001c0002t0005g0110
a0005c0013t0021g0023
a0005c0013t0029g0111
 3 HG02723.hp1
HG03041.hp1
HG03471.hp1
HG02723.hp1
HG03041.hp1
HG03471.hp1
 intron_variant MODIFIER c.522+12271G>A
c.522+12271G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8602290
chr1:8602390 CA
CA
 C
C
 91 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(88): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0002g0167
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0006c0025t0007g0025
 91 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(88): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03453.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.522+12170delT
c.522+12170delT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8602390
chr1:8602435 C
C
 T
T
 5 a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
others(2): Show 
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
 5 HG02109.hp1
HG02257.hp2
HG02818.hp1
others(2): Show 
HG02109.hp1
HG02257.hp2
HG02818.hp1
HG03209.hp1
HG03516.hp1
 intron_variant MODIFIER c.522+12126G>A
c.522+12126G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8602435
chr1:8602524 G
G
 GA
GA
 201 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(198): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0157
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0002t0033g0186
a0001c0002t0035g0160
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0014t0002g0191
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0001c0023t0002g0175
a0001c0024t0002g0182
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 201 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(198): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp1
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.522+12036dupT
c.522+12036dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8602524
chr1:8602631 G
G
 C
C
 4 a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0014
others(1): Show 
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0014
a0001c0003t0004g0036
 4 HG01358.hp2
HG02698.hp1
HG03654.hp2
others(1): Show 
HG01358.hp2
HG02698.hp1
HG03654.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.522+11930C>G
c.522+11930C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8602631
chr1:8602675 G
G
 A
A
 4 a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
others(1): Show 
a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0005t0026g0127
 4 HG02559.hp1
HG02965.hp2
HG03579.hp2
others(1): Show 
HG02559.hp1
HG02965.hp2
HG03579.hp2
NA21309.hp1
 intron_variant MODIFIER c.522+11886C>T
c.522+11886C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8602675
chr1:8602685 A
A
 G
G
 1 a0001c0003t0012g0018
a0001c0003t0012g0018
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.522+11876T>C
c.522+11876T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8602685
chr1:8602713 C
C
 T
T
 1 a0001c0003t0012g0018
a0001c0003t0012g0018
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.522+11848G>A
c.522+11848G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8602713
chr1:8602798 A
A
 T
T
 1 a0001c0004t0003g0109
a0001c0004t0003g0109
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.522+11763T>A
c.522+11763T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8602798
chr1:8602835 TA
TA
 T
T
 56 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(53): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0009t0041g0198
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0007c0020t0039g0197
a0008c0017t0003g0101
a0010c0027t0003g0086
 56 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(53): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02109.hp1
HG02132.hp1
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp2
HG02293.hp1
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02735.hp2
HG02818.hp1
HG02886.hp2
HG02965.hp2
HG02970.hp2
HG03130.hp1
HG03209.hp1
HG03453.hp2
HG03491.hp1
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
HG06807.hp1
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.522+11725delT
c.522+11725delT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8602835
chr1:8602999 G
G
 A
A
 162 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(159): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 162 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(159): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.522+11562C>T
c.522+11562C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8602999
chr1:8603037 T
T
 C
C
 162 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(159): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 162 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(159): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.522+11524A>G
c.522+11524A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8603037
chr1:8603385 G
G
 A
A
 1 a0005c0013t0021g0023
a0005c0013t0021g0023
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.522+11176C>T
c.522+11176C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8603385
chr1:8603496 C
C
 CACA
CACA
 5 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(2): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
 5 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(2): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.522+11062_522+1106
others(7): Show 
c.522+11062_522+11064dupTGT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8603496
chr1:8603715 A
A
 C
C
 1 a0001c0001t0001g0043
a0001c0001t0001g0043
 1 HG02074.hp2
HG02074.hp2
 intron_variant MODIFIER c.522+10846T>G
c.522+10846T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8603715
chr1:8603762 G
G
 A
A
 90 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(87): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0006c0025t0007g0025
 90 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(87): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03453.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.522+10799C>T
c.522+10799C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8603762
chr1:8603808 A
A
 G
G
 16 a0001c0001t0003g0122
a0001c0002t0005g0110
a0001c0002t0005g0128
others(13): Show 
a0001c0001t0003g0122
a0001c0002t0005g0110
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0004t0003g0109
a0001c0004t0010g0120
a0001c0004t0022g0121
a0005c0013t0021g0023
a0005c0013t0029g0111
a0009c0021t0003g0135
 16 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(13): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02723.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03041.hp1
HG03225.hp1
HG03471.hp1
HG03471.hp2
NA18906.hp2
NA21309.hp2
 intron_variant MODIFIER c.522+10753T>C
c.522+10753T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8603808
chr1:8603938 C
C
 CAAAAA
CAAAAA
 136 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(133): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0102
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0068
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0010c0027t0003g0086
 136 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(133): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp2
HG02818.hp1
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03471.hp1
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.522+10618_522+1062
others(9): Show 
c.522+10618_522+10622dupTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8603938
chr1:8603938 C
C
 CAAAAAA
CAAAAAA
 18 a0001c0001t0001g0070
a0001c0001t0001g0075
a0001c0001t0003g0100
others(15): Show 
a0001c0001t0001g0070
a0001c0001t0001g0075
a0001c0001t0003g0100
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0122
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0003t0004g0078
a0009c0021t0003g0135
 18 HG00609.hp1
HG01175.hp2
HG01884.hp1
others(15): Show 
HG00609.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03225.hp1
HG03471.hp2
HG04115.hp1
NA18906.hp2
NA18944.hp1
NA18967.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19090.hp2
 intron_variant MODIFIER c.522+10617_522+1062
others(10): Show 
c.522+10617_522+10622dupTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8603938
chr1:8603951 AG
AG
 A
A
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.522+10609delC
c.522+10609delC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8603951
chr1:8603960 A
A
 AAG
AAG
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.522+10600_522+1060
others(6): Show 
c.522+10600_522+10601insCT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8603960
chr1:8603964 G
G
 A
A
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.522+10597C>T
c.522+10597C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8603964
chr1:8604229 T
T
 C
C
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.522+10332A>G
c.522+10332A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8604229
chr1:8604374 T
T
 C
C
 5 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(2): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
 5 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(2): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.522+10187A>G
c.522+10187A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8604374
chr1:8604442 A
A
 AGGCAGAG
others(14): Show 
AGGCAGAGGCCTCTGAAAGGAG
 5 a0001c0004t0005g0123
a0002c0006t0003g0139
a0002c0026t0008g0140
others(2): Show 
a0001c0004t0005g0123
a0002c0006t0003g0139
a0002c0026t0008g0140
a0004c0012t0008g0137
a0004c0012t0008g0138
 5 HG01361.hp2
HG01981.hp1
HG02602.hp2
others(2): Show 
HG01361.hp2
HG01981.hp1
HG02602.hp2
HG02976.hp2
HG03195.hp1
 intron_variant MODIFIER c.522+10098_522+1011
others(25): Show 
c.522+10098_522+10118dupCTCCTTTCAGAGGCCTCTGCC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8604442
chr1:8604501 G
G
 A
A
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.522+10060C>T
c.522+10060C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8604501
chr1:8604576 AGAAG
AGAAG
 A
A
 22 a0001c0001t0003g0088
a0001c0001t0003g0100
a0001c0001t0003g0103
others(19): Show 
a0001c0001t0003g0088
a0001c0001t0003g0100
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0118
a0001c0001t0016g0054
a0001c0001t0038g0195
a0001c0002t0005g0131
a0001c0002t0005g0136
a0001c0003t0008g0085
a0001c0004t0022g0121
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0024g0081
a0005c0013t0029g0111
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 22 HG00280.hp2
HG00609.hp1
HG01175.hp2
others(19): Show 
HG00280.hp2
HG00609.hp1
HG01175.hp2
HG01496.hp1
HG01515.hp1
HG01934.hp1
HG02165.hp1
HG02257.hp1
HG02293.hp1
HG02523.hp2
HG02886.hp1
HG03041.hp1
HG03471.hp2
NA18983.hp1
NA18985.hp1
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19090.hp2
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.522+9981_522+9984d
others(6): Show 
c.522+9981_522+9984delCTTC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8604576
chr1:8604576 AGAAGGAA
others(49): Show 
AGAAGGAAGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGG
AAGGAAG
 A
A
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.522+9929_522+9984d
others(58): Show 
c.522+9929_522+9984delCTTCCTTCCTCCCTCCCTCCCTCCCTCC
CTCCCTTCCTTCCTTCCTTCCTTCCTTC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8604576
chr1:8604594 AAGGAAGG
others(1): Show 
AAGGAAGGG
 A
A
 13 a0001c0001t0001g0040
a0001c0001t0003g0115
a0001c0001t0003g0117
others(10): Show 
a0001c0001t0001g0040
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0006g0181
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0002c0006t0003g0097
a0005c0013t0021g0023
 13 HG00544.hp1
HG00597.hp1
HG01433.hp2
others(10): Show 
HG00544.hp1
HG00597.hp1
HG01433.hp2
HG02155.hp1
HG02155.hp2
HG02735.hp2
HG03471.hp1
HG04115.hp1
HG04228.hp2
NA18944.hp2
NA18973.hp2
NA18993.hp2
NA19043.hp1
 intron_variant MODIFIER c.522+9959_522+9966d
others(10): Show 
c.522+9959_522+9966delCCCTTCCT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8604594
chr1:8604594 AAGGAAGG
others(5): Show 
AAGGAAGGGAGGG
 A
A
 2 a0001c0002t0005g0110
a0001c0002t0006g0145
a0001c0002t0005g0110
a0001c0002t0006g0145
 2 HG02723.hp1
HG03491.hp1
HG02723.hp1
HG03491.hp1
 intron_variant MODIFIER c.522+9955_522+9966d
others(14): Show 
c.522+9955_522+9966delCCCTCCCTTCCT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8604594
chr1:8604598 A
A
 G
G
 25 a0001c0001t0003g0087
a0001c0001t0003g0093
a0001c0001t0003g0095
others(22): Show 
a0001c0001t0003g0087
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0102
a0001c0001t0003g0122
a0001c0001t0003g0141
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0002t0002g0165
a0001c0002t0002g0176
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0028g0133
a0001c0003t0011g0096
a0001c0003t0011g0112
a0001c0004t0003g0109
a0001c0004t0010g0120
a0001c0023t0002g0175
a0002c0006t0003g0089
a0002c0006t0003g0094
 25 HG00639.hp1
HG01167.hp1
HG01517.hp2
others(22): Show 
HG00639.hp1
HG01167.hp1
HG01517.hp2
HG01884.hp1
HG02004.hp1
HG02074.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp2
HG02683.hp1
HG02683.hp2
HG02809.hp1
HG02818.hp2
HG03225.hp1
HG03669.hp1
HG03688.hp2
NA18906.hp2
NA18939.hp2
NA18964.hp1
NA18967.hp2
NA18985.hp2
NA19074.hp2
NA19085.hp1
NA20129.hp1
NA21309.hp2
 intron_variant MODIFIER c.522+9963T>C
c.522+9963T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8604598
chr1:8604598 AAGGG
AAGGG
 A
A
 12 a0001c0001t0001g0064
a0001c0002t0002g0163
a0001c0002t0002g0167
others(9): Show 
a0001c0001t0001g0064
a0001c0002t0002g0163
a0001c0002t0002g0167
a0001c0002t0002g0168
a0001c0003t0004g0078
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0004t0005g0123
a0001c0004t0010g0142
a0001c0007t0004g0047
a0001c0011t0007g0028
a0003c0008t0001g0006
 12 HG00597.hp2
HG00741.hp1
HG02280.hp2
others(9): Show 
HG00597.hp2
HG00741.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02602.hp2
HG02735.hp1
HG02970.hp1
HG03579.hp2
NA19009.hp2
NA19043.hp2
NA19070.hp2
 intron_variant MODIFIER c.522+9959_522+9962d
others(6): Show 
c.522+9959_522+9962delCCCT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8604598
chr1:8604598 AAGGGAGG
others(1): Show 
AAGGGAGGG
 A
A
 5 a0001c0002t0018g0002
a0001c0003t0004g0068
a0001c0003t0011g0108
others(2): Show 
a0001c0002t0018g0002
a0001c0003t0004g0068
a0001c0003t0011g0108
a0003c0008t0001g0071
a0003c0008t0001g0072
 5 HG02258.hp2
HG02559.hp1
HG02647.hp1
others(2): Show 
HG02258.hp2
HG02559.hp1
HG02647.hp1
HG03041.hp2
HG06807.hp2
 intron_variant MODIFIER c.522+9955_522+9962d
others(10): Show 
c.522+9955_522+9962delCCCTCCCT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8604598
chr1:8604602 G
G
 A
A
 10 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0040g0199
others(7): Show 
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 10 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(7): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02886.hp2
HG02970.hp2
HG03209.hp1
HG03453.hp2
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.522+9959C>T
c.522+9959C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8604602
chr1:8604614 G
G
 A
A
 3 a0001c0001t0003g0141
a0001c0001t0036g0194
a0001c0003t0011g0112
a0001c0001t0003g0141
a0001c0001t0036g0194
a0001c0003t0011g0112
 3 HG02683.hp1
HG02683.hp2
NA18985.hp2
HG02683.hp1
HG02683.hp2
NA18985.hp2
 intron_variant MODIFIER c.522+9947C>T
c.522+9947C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8604614
chr1:8604614 G
G
 GAGGA
GAGGA
 18 a0001c0001t0001g0039
a0001c0001t0001g0043
a0001c0001t0001g0045
others(15): Show 
a0001c0001t0001g0039
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0055
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0008g0105
a0001c0003t0012g0018
a0001c0007t0001g0008
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0016t0020g0001
a0001c0018t0001g0005
a0002c0006t0003g0094
 18 HG00544.hp2
HG00741.hp2
HG01168.hp2
others(15): Show 
HG00544.hp2
HG00741.hp2
HG01168.hp2
HG01255.hp1
HG01358.hp2
HG02004.hp2
HG02074.hp2
HG02622.hp2
HG02976.hp1
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG04199.hp2
NA18967.hp1
NA19002.hp1
NA19074.hp2
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.522+9946_522+9947i
others(6): Show 
c.522+9946_522+9947insTCCT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8604614
chr1:8604614 G
G
 GAGGAAGG
others(1): Show 
GAGGAAGGA
 7 a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0050
others(4): Show 
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0065
a0001c0003t0004g0021
a0001c0005t0019g0030
 7 HG01192.hp1
HG02080.hp1
HG02523.hp1
others(4): Show 
HG01192.hp1
HG02080.hp1
HG02523.hp1
HG03130.hp2
NA18906.hp1
NA18983.hp2
NA19005.hp1
 intron_variant MODIFIER c.522+9946_522+9947i
others(10): Show 
c.522+9946_522+9947insTCCTTCCT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8604614
chr1:8604614 G
G
 GAGGAAGG
others(9): Show 
GAGGAAGGAAGGAAGGA
 1 a0001c0001t0001g0013
a0001c0001t0001g0013
 1 HG01192.hp2
HG01192.hp2
 intron_variant MODIFIER c.522+9946_522+9947i
others(18): Show 
c.522+9946_522+9947insTCCTTCCTTCCTTCCT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8604614
chr1:8604614 GAGGGAGG
others(5): Show 
GAGGGAGGGAGGA
 G
G
 1 a0001c0003t0004g0035
a0001c0003t0004g0035
 1 HG00639.hp2
HG00639.hp2
 intron_variant MODIFIER c.522+9935_522+9946d
others(14): Show 
c.522+9935_522+9946delTCCTCCCTCCCT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8604614
chr1:8604614 GAGGGAGG
others(9): Show 
GAGGGAGGGAGGAAGGA
 G
G
 3 a0001c0001t0001g0073
a0001c0001t0003g0093
a0001c0004t0001g0003
a0001c0001t0001g0073
a0001c0001t0003g0093
a0001c0004t0001g0003
 3 HG03139.hp1
HG04184.hp2
NA18964.hp1
HG03139.hp1
HG04184.hp2
NA18964.hp1
 intron_variant MODIFIER c.522+9931_522+9946d
others(18): Show 
c.522+9931_522+9946delTCCTTCCTCCCTCCCT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8604614
chr1:8604614 GAGGGAGG
others(13): Show 
GAGGGAGGGAGGAAGGAAGGA
 G
G
 1 a0001c0002t0005g0114
a0001c0002t0005g0114
 1 HG02004.hp1
HG02004.hp1
 intron_variant MODIFIER c.522+9927_522+9946d
others(22): Show 
c.522+9927_522+9946delTCCTTCCTTCCTCCCTCCCT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8604614
chr1:8604618 G
G
 A
A
 50 a0001c0001t0001g0013
a0001c0001t0001g0037
a0001c0001t0001g0038
others(47): Show 
a0001c0001t0001g0013
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0095
a0001c0001t0003g0102
a0001c0001t0003g0141
a0001c0001t0036g0194
a0001c0002t0005g0116
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0017g0032
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0011t0007g0027
a0001c0011t0007g0029
a0001c0016t0020g0001
a0001c0018t0001g0005
a0002c0006t0003g0089
a0002c0006t0003g0094
a0002c0006t0003g0139
a0002c0026t0008g0140
a0004c0012t0008g0137
a0004c0012t0008g0138
 50 HG00544.hp2
HG00639.hp1
HG00741.hp2
others(47): Show 
HG00544.hp2
HG00639.hp1
HG00741.hp2
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01358.hp2
HG01361.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02132.hp1
HG02280.hp1
HG02523.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02976.hp1
HG02976.hp2
HG03130.hp2
HG03195.hp1
HG03654.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG04115.hp2
HG04199.hp2
NA18906.hp1
NA18939.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19074.hp2
NA19090.hp1
NA20129.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.522+9943C>T
c.522+9943C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8604618
chr1:8604618 G
G
 GAGGA
GAGGA
 21 a0001c0001t0001g0015
a0001c0001t0001g0059
a0001c0001t0001g0063
others(18): Show 
a0001c0001t0001g0015
a0001c0001t0001g0059
a0001c0001t0001g0063
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0003g0124
a0001c0001t0006g0170
a0001c0002t0002g0152
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0033g0186
a0001c0003t0004g0017
a0001c0003t0004g0042
a0001c0004t0003g0092
a0001c0014t0002g0191
a0001c0019t0014g0119
a0001c0023t0002g0175
a0006c0025t0007g0025
 21 HG00140.hp1
HG00140.hp2
HG01261.hp1
others(18): Show 
HG00140.hp1
HG00140.hp2
HG01261.hp1
HG01361.hp1
HG01433.hp1
HG02129.hp1
HG02258.hp1
HG02486.hp1
HG02559.hp2
HG02698.hp2
HG02809.hp2
HG03195.hp2
HG03491.hp2
HG03540.hp1
HG03831.hp2
NA18939.hp2
NA18993.hp1
NA19000.hp2
NA19009.hp1
NA19085.hp1
NA20752.hp1
 intron_variant MODIFIER c.522+9942_522+9943i
others(6): Show 
c.522+9942_522+9943insTCCT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8604618
chr1:8604618 G
G
 GAGGAAGG
others(1): Show 
GAGGAAGGA
 11 a0001c0001t0001g0004
a0001c0001t0001g0056
a0001c0001t0001g0057
others(8): Show 
a0001c0001t0001g0004
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0006g0184
a0001c0002t0002g0150
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0192
a0001c0002t0002g0193
 11 HG01167.hp2
HG01169.hp2
HG01175.hp1
others(8): Show 
HG01167.hp2
HG01169.hp2
HG01175.hp1
HG01358.hp1
HG01496.hp2
HG01981.hp2
HG02486.hp2
NA18944.hp1
NA18946.hp2
NA18967.hp2
NA19074.hp1
 intron_variant MODIFIER c.522+9942_522+9943i
others(10): Show 
c.522+9942_522+9943insTCCTTCCT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8604618
chr1:8604618 G
G
 GAGGAAGG
others(5): Show 
GAGGAAGGAAGGA
 1 a0001c0002t0002g0187
a0001c0002t0002g0187
 1 HG04228.hp1
HG04228.hp1
 intron_variant MODIFIER c.522+9942_522+9943i
others(14): Show 
c.522+9942_522+9943insTCCTTCCTTCCT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8604618
chr1:8604618 GAGGGAGG
others(1): Show 
GAGGGAGGA
 G
G
 5 a0001c0002t0002g0173
a0001c0002t0002g0177
a0001c0002t0002g0190
others(2): Show 
a0001c0002t0002g0173
a0001c0002t0002g0177
a0001c0002t0002g0190
a0001c0010t0013g0024
a0003c0008t0001g0031
 5 HG01255.hp2
HG03139.hp2
HG03209.hp2
others(2): Show 
HG01255.hp2
HG03139.hp2
HG03209.hp2
HG03540.hp2
HG04199.hp1
 intron_variant MODIFIER c.522+9935_522+9942d
others(10): Show 
c.522+9935_522+9942delTCCTCCCT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8604618
chr1:8604618 GAGGGAGG
others(5): Show 
GAGGGAGGAAGGA
 G
G
 2 a0001c0001t0037g0196
a0001c0015t0001g0009
a0001c0001t0037g0196
a0001c0015t0001g0009
 2 HG01517.hp2
HG02896.hp1
HG01517.hp2
HG02896.hp1
 intron_variant MODIFIER c.522+9931_522+9942d
others(14): Show 
c.522+9931_522+9942delTCCTTCCTCCCT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8604618
chr1:8604618 GAGGGAGG
others(9): Show 
GAGGGAGGAAGGAAGGA
 G
G
 1 a0001c0002t0002g0161
a0001c0002t0002g0161
 1 HG02027.hp2
HG02027.hp2
 intron_variant MODIFIER c.522+9927_522+9942d
others(18): Show 
c.522+9927_522+9942delTCCTTCCTTCCTCCCT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8604618
chr1:8604622 G
G
 A
A
 120 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(117): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0118
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0152
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0167
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0179
a0001c0002t0002g0187
a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0005g0116
a0001c0002t0033g0186
a0001c0002t0035g0160
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0004t0010g0142
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0034
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0014t0002g0191
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0001c0023t0002g0175
a0001c0024t0002g0182
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0004c0012t0008g0137
a0004c0012t0008g0138
a0006c0025t0007g0025
a0008c0017t0003g0101
a0010c0027t0003g0086
 120 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(117): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp2
HG00609.hp1
HG00639.hp1
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01884.hp2
HG01934.hp1
HG01981.hp1
HG01981.hp2
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp2
HG02896.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03491.hp2
HG03516.hp2
HG03540.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG04228.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18944.hp1
NA18946.hp1
NA18946.hp2
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.522+9939C>T
c.522+9939C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8604622
chr1:8604622 G
G
 GAGGA
GAGGA
 5 a0001c0002t0002g0151
a0001c0002t0002g0178
a0001c0002t0013g0053
others(2): Show 
a0001c0002t0002g0151
a0001c0002t0002g0178
a0001c0002t0013g0053
a0001c0004t0001g0049
a0001c0010t0007g0026
 5 HG00609.hp2
HG01261.hp2
HG02293.hp2
others(2): Show 
HG00609.hp2
HG01261.hp2
HG02293.hp2
HG02647.hp2
NA20905.hp1
 intron_variant MODIFIER c.522+9935_522+9938d
others(6): Show 
c.522+9935_522+9938dupTCCT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8604622
chr1:8604622 G
G
 GAGGAAGG
others(1): Show 
GAGGAAGGA
 2 a0001c0002t0002g0158
a0001c0002t0002g0166
a0001c0002t0002g0158
a0001c0002t0002g0166
 2 HG03654.hp1
NA19070.hp1
HG03654.hp1
NA19070.hp1
 intron_variant MODIFIER c.522+9931_522+9938d
others(10): Show 
c.522+9931_522+9938dupTCCTTCCT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8604622
chr1:8604622 G
G
 GAGGAAGG
others(5): Show 
GAGGAAGGAAGGA
 1 a0001c0002t0005g0125
a0001c0002t0005g0125
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.522+9927_522+9938d
others(14): Show 
c.522+9927_522+9938dupTCCTTCCTTCCT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8604622
chr1:8604622 G
G
 GAGGAAGG
others(9): Show 
GAGGAAGGAAGGAAGGA
 2 a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0188
a0001c0002t0002g0189
 2 HG01168.hp1
HG01169.hp1
HG01168.hp1
HG01169.hp1
 intron_variant MODIFIER c.522+9923_522+9938d
others(18): Show 
c.522+9923_522+9938dupTCCTTCCTTCCTTCCT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8604622
chr1:8604622 GAGGA
GAGGA
 G
G
 4 a0001c0002t0002g0169
a0001c0002t0002g0180
a0001c0004t0010g0107
others(1): Show 
a0001c0002t0002g0169
a0001c0002t0002g0180
a0001c0004t0010g0107
a0001c0004t0027g0106
 4 HG02080.hp2
HG02132.hp2
HG02886.hp2
others(1): Show 
HG02080.hp2
HG02132.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.522+9935_522+9938d
others(6): Show 
c.522+9935_522+9938delTCCT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8604622
chr1:8604622 GAGGAAGG
others(1): Show 
GAGGAAGGA
 G
G
 2 a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0153
a0001c0001t0006g0154
 2 HG03225.hp2
NA20300.hp2
HG03225.hp2
NA20300.hp2
 intron_variant MODIFIER c.522+9931_522+9938d
others(10): Show 
c.522+9931_522+9938delTCCTTCCT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8604622
chr1:8604622 GAGGAAGG
others(5): Show 
GAGGAAGGAAGGA
 G
G
 5 a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
others(2): Show 
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
 5 HG02109.hp1
HG02257.hp2
HG02818.hp1
others(2): Show 
HG02109.hp1
HG02257.hp2
HG02818.hp1
HG03209.hp1
HG03516.hp1
 intron_variant MODIFIER c.522+9927_522+9938d
others(14): Show 
c.522+9927_522+9938delTCCTTCCTTCCT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8604622
chr1:8604622 GAGGAAGG
others(13): Show 
GAGGAAGGAAGGAAGGAAGGA
 G
G
 3 a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
 3 HG02145.hp1
HG02970.hp2
HG06807.hp1
HG02145.hp1
HG02970.hp2
HG06807.hp1
 intron_variant MODIFIER c.522+9919_522+9938d
others(22): Show 
c.522+9919_522+9938delTCCTTCCTTCCTTCCTTCCT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8604622
chr1:8604626 A
A
 G
G
 16 a0001c0001t0023g0113
a0001c0002t0005g0110
a0001c0002t0005g0128
others(13): Show 
a0001c0001t0023g0113
a0001c0002t0005g0110
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0028g0133
a0001c0004t0003g0109
a0001c0004t0010g0120
a0001c0004t0022g0121
a0005c0013t0021g0023
a0009c0021t0003g0135
 16 HG00544.hp1
HG01167.hp1
HG01175.hp2
others(13): Show 
HG00544.hp1
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02257.hp1
HG02723.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03225.hp1
HG03471.hp1
HG03471.hp2
HG03491.hp1
NA18906.hp2
NA21309.hp2
 intron_variant MODIFIER c.522+9935T>C
c.522+9935T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8604626
chr1:8604630 A
A
 G
G
 7 a0001c0002t0005g0131
a0001c0002t0005g0136
a0001c0004t0010g0107
others(4): Show 
a0001c0002t0005g0131
a0001c0002t0005g0136
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0022g0121
a0001c0004t0027g0106
a0009c0021t0003g0135
 7 HG01167.hp1
HG01175.hp2
HG02257.hp1
others(4): Show 
HG01167.hp1
HG01175.hp2
HG02257.hp1
HG02886.hp1
HG02886.hp2
HG03453.hp2
HG03471.hp2
 intron_variant MODIFIER c.522+9931T>C
c.522+9931T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8604630
chr1:8604634 A
A
 G
G
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.522+9927T>C
c.522+9927T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8604634
chr1:8604638 A
A
 G
G
 5 a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
others(2): Show 
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
 5 HG02109.hp1
HG02257.hp2
HG02818.hp1
others(2): Show 
HG02109.hp1
HG02257.hp2
HG02818.hp1
HG03209.hp1
HG03516.hp1
 intron_variant MODIFIER c.522+9923T>C
c.522+9923T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8604638
chr1:8604642 A
A
 G
G
 5 a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
others(2): Show 
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
 5 HG02109.hp1
HG02257.hp2
HG02818.hp1
others(2): Show 
HG02109.hp1
HG02257.hp2
HG02818.hp1
HG03209.hp1
HG03516.hp1
 intron_variant MODIFIER c.522+9919T>C
c.522+9919T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8604642
chr1:8604646 A
A
 G
G
 11 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0040g0199
others(8): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0034g0156
a0001c0009t0041g0198
a0007c0020t0039g0197
 11 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(8): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02622.hp1
HG02818.hp1
HG02970.hp2
HG03130.hp1
HG03209.hp1
HG03516.hp1
HG03579.hp1
HG06807.hp1
 intron_variant MODIFIER c.522+9915T>C
c.522+9915T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8604646
chr1:8604650 A
A
 G
G
 11 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0040g0199
others(8): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0034g0156
a0001c0009t0041g0198
a0007c0020t0039g0197
 11 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(8): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02622.hp1
HG02818.hp1
HG02970.hp2
HG03130.hp1
HG03209.hp1
HG03516.hp1
HG03579.hp1
HG06807.hp1
 intron_variant MODIFIER c.522+9911T>C
c.522+9911T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8604650
chr1:8604654 A
A
 G
G
 11 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0040g0199
others(8): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0034g0156
a0001c0009t0041g0198
a0007c0020t0039g0197
 11 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(8): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02622.hp1
HG02818.hp1
HG02970.hp2
HG03130.hp1
HG03209.hp1
HG03516.hp1
HG03579.hp1
HG06807.hp1
 intron_variant MODIFIER c.522+9907T>C
c.522+9907T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8604654
chr1:8604673 G
G
 T
T
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.522+9888C>A
c.522+9888C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8604673
chr1:8604718 T
T
 C
C
 1 a0001c0004t0003g0109
a0001c0004t0003g0109
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.522+9843A>G
c.522+9843A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8604718
chr1:8604726 T
T
 G
G
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.522+9835A>C
c.522+9835A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8604726
chr1:8604863 T
T
 C
C
 162 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(159): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 162 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(159): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.522+9698A>G
c.522+9698A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8604863
chr1:8604955 T
T
 C
C
 1 a0001c0002t0002g0166
a0001c0002t0002g0166
 1 NA19070.hp1
NA19070.hp1
 intron_variant MODIFIER c.522+9606A>G
c.522+9606A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8604955
chr1:8605062 C
C
 A
A
 2 a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0188
a0001c0002t0002g0189
 2 HG01168.hp1
HG01169.hp1
HG01168.hp1
HG01169.hp1
 intron_variant MODIFIER c.522+9499G>T
c.522+9499G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8605062
chr1:8605070 A
A
 G
G
 2 a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0002g0192
a0001c0002t0002g0193
 2 HG01175.hp1
HG01358.hp1
HG01175.hp1
HG01358.hp1
 intron_variant MODIFIER c.522+9491T>C
c.522+9491T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8605070
chr1:8605087 ATCTACAG
others(6): Show 
ATCTACAGTTATTC
 A
A
 1 a0001c0001t0001g0037
a0001c0001t0001g0037
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.522+9461_522+9473d
others(15): Show 
c.522+9461_522+9473delGAATAACTGTAGA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8605087
chr1:8605116 C
C
 A
A
 1 a0001c0015t0001g0009
a0001c0015t0001g0009
 1 HG02896.hp1
HG02896.hp1
 intron_variant MODIFIER c.522+9445G>T
c.522+9445G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8605116
chr1:8605161 G
G
 A
A
 1 a0001c0001t0023g0113
a0001c0001t0023g0113
 1 HG00544.hp1
HG00544.hp1
 intron_variant MODIFIER c.522+9400C>T
c.522+9400C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8605161
chr1:8605268 G
G
 C
C
 5 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(2): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
 5 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(2): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.522+9293C>G
c.522+9293C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8605268
chr1:8605283 C
C
 T
T
 5 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(2): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
 5 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(2): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.522+9278G>A
c.522+9278G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8605283
chr1:8605367 T
T
 C
C
 5 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(2): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
 5 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(2): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.522+9194A>G
c.522+9194A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8605367
chr1:8605505 T
T
 C
C
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.522+9056A>G
c.522+9056A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8605505
chr1:8605552 C
C
 T
T
 4 a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
others(1): Show 
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
 4 HG02647.hp1
HG02970.hp1
HG03041.hp2
others(1): Show 
HG02647.hp1
HG02970.hp1
HG03041.hp2
HG03139.hp2
 intron_variant MODIFIER c.522+9009G>A
c.522+9009G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8605552
chr1:8605618 A
A
 G
G
 5 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(2): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
 5 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(2): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.522+8943T>C
c.522+8943T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8605618
chr1:8605658 A
A
 C
C
 3 a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
 3 HG02280.hp1
HG02451.hp2
HG02723.hp2
HG02280.hp1
HG02451.hp2
HG02723.hp2
 intron_variant MODIFIER c.522+8903T>G
c.522+8903T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8605658
chr1:8605716 T
T
 G
G
 5 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(2): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
 5 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(2): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.522+8845A>C
c.522+8845A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8605716
chr1:8605728 G
G
 A
A
 5 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(2): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
 5 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(2): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.522+8833C>T
c.522+8833C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8605728
chr1:8605745 C
C
 CA
CA
 31 a0001c0001t0001g0004
a0001c0001t0001g0046
a0001c0001t0001g0050
others(28): Show 
a0001c0001t0001g0004
a0001c0001t0001g0046
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0069
a0001c0001t0003g0124
a0001c0001t0006g0153
a0001c0001t0006g0170
a0001c0001t0036g0194
a0001c0002t0002g0150
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0177
a0001c0002t0002g0180
a0001c0002t0002g0188
a0001c0002t0002g0193
a0001c0004t0001g0003
a0001c0004t0003g0092
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0007t0004g0047
a0001c0018t0001g0005
 31 HG00597.hp2
HG00741.hp1
HG01169.hp1
others(28): Show 
HG00597.hp2
HG00741.hp1
HG01169.hp1
HG01358.hp1
HG01433.hp1
HG01496.hp2
HG01981.hp2
HG02027.hp1
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02132.hp2
HG02165.hp2
HG02486.hp2
HG02698.hp2
HG02818.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03491.hp2
HG03688.hp1
HG04184.hp2
HG04199.hp2
NA18983.hp2
NA18985.hp2
NA19000.hp2
NA19005.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA20752.hp1
 intron_variant MODIFIER c.522+8815dupT
c.522+8815dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8605745
chr1:8605745 C
C
 CAA
CAA
 29 a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
others(26): Show 
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0001g0075
a0001c0001t0003g0087
a0001c0001t0006g0154
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0158
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0183
a0001c0002t0002g0192
a0001c0002t0005g0114
a0001c0004t0014g0126
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0022t0008g0082
a0010c0027t0003g0086
 29 HG00280.hp1
HG00280.hp2
HG01167.hp2
others(26): Show 
HG00280.hp1
HG00280.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp1
HG01261.hp2
HG01934.hp2
HG02004.hp1
HG02129.hp1
HG02257.hp2
HG02293.hp2
HG02451.hp1
HG02559.hp2
HG02602.hp1
HG02735.hp1
HG02965.hp2
HG02970.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03654.hp1
HG03669.hp1
HG04184.hp1
HG04199.hp1
NA18946.hp2
NA18967.hp1
NA18985.hp1
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.522+8814_522+8815d
others(4): Show 
c.522+8814_522+8815dupTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8605745
chr1:8605745 C
C
 CAAA
CAAA
 22 a0001c0001t0001g0059
a0001c0001t0003g0095
a0001c0001t0003g0104
others(19): Show 
a0001c0001t0001g0059
a0001c0001t0003g0095
a0001c0001t0003g0104
a0001c0001t0003g0118
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0161
a0001c0002t0006g0145
a0001c0002t0035g0160
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0006g0146
a0001c0005t0026g0127
a0001c0007t0003g0084
a0001c0007t0003g0099
a0001c0009t0041g0198
a0002c0006t0003g0090
a0002c0006t0003g0097
a0002c0006t0024g0081
a0005c0013t0029g0111
a0007c0020t0039g0197
a0008c0017t0003g0101
 22 HG00609.hp1
HG01261.hp1
HG01515.hp1
others(19): Show 
HG00609.hp1
HG01261.hp1
HG01515.hp1
HG01517.hp2
HG02027.hp2
HG02145.hp1
HG02165.hp1
HG02523.hp2
HG02735.hp2
HG03041.hp1
HG03491.hp1
HG03669.hp2
HG06807.hp1
NA18944.hp2
NA18983.hp1
NA19005.hp2
NA19043.hp1
NA20129.hp1
NA20752.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.522+8813_522+8815d
others(5): Show 
c.522+8813_522+8815dupTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8605745
chr1:8605745 C
C
 CAAAA
CAAAA
 18 a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0100
others(15): Show 
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0117
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0031g0144
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0010g0107
a0001c0004t0010g0142
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0007t0003g0098
a0002c0006t0003g0089
a0002c0006t0003g0094
 18 HG00544.hp1
HG01496.hp1
HG01934.hp1
others(15): Show 
HG00544.hp1
HG01496.hp1
HG01934.hp1
HG02074.hp1
HG02132.hp1
HG02293.hp1
HG02886.hp2
HG03453.hp2
HG03579.hp2
HG03688.hp2
HG04228.hp2
NA18964.hp1
NA18973.hp2
NA18993.hp2
NA19000.hp1
NA19007.hp2
NA19074.hp2
NA19090.hp2
 intron_variant MODIFIER c.522+8812_522+8815d
others(6): Show 
c.522+8812_522+8815dupTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8605745
chr1:8605745 C
C
 CAAAAAAA
others(4): Show 
CAAAAAAAAAAA
 2 a0001c0019t0014g0119
a0003c0008t0001g0031
a0001c0019t0014g0119
a0003c0008t0001g0031
 2 HG03139.hp2
HG03195.hp2
HG03139.hp2
HG03195.hp2
 intron_variant MODIFIER c.522+8805_522+8815d
others(13): Show 
c.522+8805_522+8815dupTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8605745
chr1:8605745 C
C
 CAAAAAAA
others(5): Show 
CAAAAAAAAAAAA
 1 a0003c0008t0001g0006
a0003c0008t0001g0006
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.522+8804_522+8815d
others(14): Show 
c.522+8804_522+8815dupTTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8605745
chr1:8605745 C
C
 CAAAAAAA
others(6): Show 
CAAAAAAAAAAAAA
 2 a0001c0001t0001g0073
a0003c0008t0001g0071
a0001c0001t0001g0073
a0003c0008t0001g0071
 2 HG03041.hp2
HG03139.hp1
HG03041.hp2
HG03139.hp1
 intron_variant MODIFIER c.522+8803_522+8815d
others(15): Show 
c.522+8803_522+8815dupTTTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8605745
chr1:8605745 C
C
 CAAAAAAA
others(7): Show 
CAAAAAAAAAAAAAA
 1 a0003c0008t0001g0072
a0003c0008t0001g0072
 1 HG02647.hp1
HG02647.hp1
 intron_variant MODIFIER c.522+8802_522+8815d
others(16): Show 
c.522+8802_522+8815dupTTTTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8605745
chr1:8605745 C
C
 CAAAAAAA
others(9): Show 
CAAAAAAAAAAAAAAAA
 1 a0001c0002t0005g0125
a0001c0002t0005g0125
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.522+8800_522+8815d
others(18): Show 
c.522+8800_522+8815dupTTTTTTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8605745
chr1:8605745 C
C
 CAAAAAAA
others(11): Show 
CAAAAAAAAAAAAAAAAAA
 1 a0001c0001t0001g0074
a0001c0001t0001g0074
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.522+8798_522+8815d
others(20): Show 
c.522+8798_522+8815dupTTTTTTTTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8605745
chr1:8605745 CAAAAAAA
CAAAAAAA
 C
C
 8 a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0003t0004g0010
others(5): Show 
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0003t0004g0010
a0001c0003t0004g0014
a0001c0003t0004g0036
a0001c0003t0004g0068
a0001c0010t0007g0026
a0002c0006t0003g0139
 8 HG01358.hp2
HG01361.hp2
HG02258.hp1
others(5): Show 
HG01358.hp2
HG01361.hp2
HG02258.hp1
HG02258.hp2
HG02647.hp2
HG02698.hp1
NA18906.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.522+8809_522+8815d
others(9): Show 
c.522+8809_522+8815delTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8605745
chr1:8605745 CAAAAAAA
others(1): Show 
CAAAAAAAA
 C
C
 34 a0001c0001t0001g0033
a0001c0002t0005g0132
a0001c0003t0004g0007
others(31): Show 
a0001c0001t0001g0033
a0001c0002t0005g0132
a0001c0003t0004g0007
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0005g0123
a0001c0004t0022g0121
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0009t0004g0020
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0002c0026t0008g0140
a0004c0012t0008g0137
a0004c0012t0008g0138
a0006c0025t0007g0025
 34 HG00140.hp1
HG00544.hp2
HG00639.hp2
others(31): Show 
HG00140.hp1
HG00544.hp2
HG00639.hp2
HG00741.hp2
HG01168.hp2
HG01192.hp1
HG01884.hp2
HG01981.hp1
HG02109.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02602.hp2
HG02622.hp2
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02976.hp2
HG03130.hp2
HG03195.hp1
HG03540.hp2
HG03654.hp2
HG03831.hp1
HG04115.hp2
HG06807.hp2
NA18939.hp1
NA18946.hp1
NA18973.hp1
NA18993.hp1
NA19009.hp2
NA19043.hp2
NA20129.hp2
 intron_variant MODIFIER c.522+8808_522+8815d
others(10): Show 
c.522+8808_522+8815delTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8605745
chr1:8605745 CAAAAAAA
others(2): Show 
CAAAAAAAAA
 C
C
 10 a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
others(7): Show 
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0009t0004g0016
a0009c0021t0003g0135
 10 HG01167.hp1
HG01175.hp2
HG01255.hp1
others(7): Show 
HG01167.hp1
HG01175.hp2
HG01255.hp1
HG01884.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03225.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.522+8807_522+8815d
others(11): Show 
c.522+8807_522+8815delTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8605745
chr1:8605745 CAAAAAAA
others(3): Show 
CAAAAAAAAAA
 C
C
 1 a0001c0001t0003g0122
a0001c0001t0003g0122
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.522+8806_522+8815d
others(12): Show 
c.522+8806_522+8815delTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8605745
chr1:8605765 AAAAAAAC
others(4): Show 
AAAAAAACCCCT
 A
A
 2 a0001c0002t0002g0165
a0001c0002t0002g0176
a0001c0002t0002g0165
a0001c0002t0002g0176
 2 NA18967.hp2
NA19085.hp1
NA18967.hp2
NA19085.hp1
 intron_variant MODIFIER c.522+8785_522+8795d
others(13): Show 
c.522+8785_522+8795delAGGGGTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8605765
chr1:8605766 AAAAAACC
others(3): Show 
AAAAAACCCCT
 A
A
 1 a0001c0023t0002g0175
a0001c0023t0002g0175
 1 NA18939.hp2
NA18939.hp2
 intron_variant MODIFIER c.522+8785_522+8794d
others(12): Show 
c.522+8785_522+8794delAGGGGTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8605766
chr1:8605771 A
A
 C
C
 1 a0001c0010t0007g0034
a0001c0010t0007g0034
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.522+8790T>G
c.522+8790T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8605771
chr1:8605772 C
C
 A
A
 8 a0001c0001t0001g0074
a0001c0002t0005g0125
a0001c0004t0010g0107
others(5): Show 
a0001c0001t0001g0074
a0001c0002t0005g0125
a0001c0004t0010g0107
a0001c0004t0027g0106
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
 8 HG02647.hp1
HG02886.hp2
HG02970.hp1
others(5): Show 
HG02647.hp1
HG02886.hp2
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03139.hp2
HG03453.hp1
HG03453.hp2
 intron_variant MODIFIER c.522+8789G>T
c.522+8789G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8605772
chr1:8605792 A
A
 C
C
 1 a0001c0004t0003g0109
a0001c0004t0003g0109
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.522+8769T>G
c.522+8769T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8605792
chr1:8605845 C
C
 CTTT
CTTT
 7 a0001c0001t0001g0074
a0001c0015t0001g0009
a0003c0008t0001g0006
others(4): Show 
a0001c0001t0001g0074
a0001c0015t0001g0009
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0138
 7 HG02647.hp1
HG02896.hp1
HG02970.hp1
others(4): Show 
HG02647.hp1
HG02896.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03139.hp2
 intron_variant MODIFIER c.522+8713_522+8715d
others(5): Show 
c.522+8713_522+8715dupAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8605845
chr1:8605845 C
C
 CTTTT
CTTTT
 35 a0001c0001t0001g0037
a0001c0003t0004g0007
a0001c0003t0004g0010
others(32): Show 
a0001c0001t0001g0037
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0005g0123
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0016t0020g0001
a0002c0006t0003g0139
a0002c0026t0008g0140
a0004c0012t0008g0137
a0006c0025t0007g0025
 35 HG00544.hp2
HG00639.hp2
HG00741.hp2
others(32): Show 
HG00544.hp2
HG00639.hp2
HG00741.hp2
HG01168.hp2
HG01192.hp1
HG01358.hp2
HG01361.hp2
HG01981.hp1
HG02109.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02602.hp2
HG02647.hp2
HG02723.hp2
HG02809.hp2
HG02965.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03516.hp1
HG03654.hp2
HG03831.hp1
HG04115.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18946.hp1
NA18973.hp1
NA18993.hp1
NA19009.hp2
NA19043.hp2
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.522+8712_522+8715d
others(6): Show 
c.522+8712_522+8715dupAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8605845
chr1:8605845 C
C
 CTTTTT
CTTTTT
 47 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(44): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0017
a0001c0003t0004g0036
a0001c0003t0004g0068
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0040g0199
a0001c0005t0009g0204
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0041g0198
a0001c0010t0013g0024
a0001c0019t0014g0119
a0007c0020t0039g0197
 47 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(44): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00597.hp2
HG00609.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01433.hp1
HG02004.hp2
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02258.hp1
HG02258.hp2
HG02486.hp2
HG02523.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02818.hp1
HG02970.hp2
HG03139.hp1
HG03195.hp2
HG03453.hp1
HG03491.hp2
HG03540.hp2
HG04199.hp2
HG06807.hp1
NA18944.hp1
NA18964.hp2
NA18967.hp1
NA18983.hp2
NA18985.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.522+8711_522+8715d
others(7): Show 
c.522+8711_522+8715dupAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8605845
chr1:8605845 C
C
 CTTTTTT
CTTTTTT
 7 a0001c0001t0001g0046
a0001c0001t0001g0062
a0001c0001t0001g0065
others(4): Show 
a0001c0001t0001g0046
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0004t0003g0109
a0001c0018t0001g0005
 7 HG01496.hp2
HG02080.hp1
HG02165.hp2
others(4): Show 
HG01496.hp2
HG02080.hp1
HG02165.hp2
HG03688.hp1
HG03831.hp2
NA19000.hp2
NA21309.hp2
 intron_variant MODIFIER c.522+8710_522+8715d
others(8): Show 
c.522+8710_522+8715dupAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8605845
chr1:8605845 C
C
 CTTTTTTT
CTTTTTTT
 12 a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
others(9): Show 
a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0002t0035g0160
a0001c0004t0001g0003
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0022g0121
 12 HG01167.hp1
HG01884.hp1
HG02145.hp2
others(9): Show 
HG01167.hp1
HG01884.hp1
HG02145.hp2
HG02257.hp1
HG02809.hp1
HG02886.hp1
HG03225.hp1
HG03471.hp2
HG03579.hp2
HG03669.hp2
HG04184.hp2
NA18906.hp2
 intron_variant MODIFIER c.522+8709_522+8715d
others(9): Show 
c.522+8709_522+8715dupAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8605845
chr1:8605845 C
C
 CTTTTTTT
others(1): Show 
CTTTTTTTT
 45 a0001c0001t0003g0087
a0001c0001t0003g0100
a0001c0001t0003g0102
others(42): Show 
a0001c0001t0003g0087
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0149
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0193
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0006g0145
a0001c0002t0018g0002
a0001c0002t0033g0186
a0001c0003t0008g0085
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0014g0126
a0001c0004t0025g0080
a0001c0014t0002g0191
a0009c0021t0003g0135
 45 HG00544.hp1
HG00597.hp1
HG00609.hp1
others(42): Show 
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00741.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp2
HG01255.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp2
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02027.hp2
HG02080.hp2
HG02109.hp2
HG02132.hp2
HG02155.hp2
HG02293.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02818.hp2
HG02965.hp2
HG03209.hp2
HG03491.hp1
HG03516.hp2
HG03669.hp1
HG03688.hp2
HG04228.hp1
HG04228.hp2
NA18946.hp2
NA18967.hp2
NA18973.hp2
NA18993.hp2
NA19007.hp2
NA19070.hp1
NA19085.hp1
NA19090.hp2
 intron_variant MODIFIER c.522+8708_522+8715d
others(10): Show 
c.522+8708_522+8715dupAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8605845
chr1:8605845 C
C
 CTTTTTTT
others(2): Show 
CTTTTTTTTT
 30 a0001c0001t0001g0033
a0001c0001t0001g0043
a0001c0001t0003g0088
others(27): Show 
a0001c0001t0001g0033
a0001c0001t0001g0043
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0118
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0002t0002g0150
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0164
a0001c0002t0002g0173
a0001c0002t0002g0192
a0001c0003t0011g0096
a0001c0005t0026g0127
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0001c0023t0002g0175
a0001c0024t0002g0182
a0002c0006t0003g0089
a0002c0006t0003g0091
a0002c0006t0003g0094
a0005c0013t0021g0023
a0005c0013t0029g0111
a0008c0017t0003g0101
 30 HG00280.hp2
HG01175.hp1
HG01496.hp1
others(27): Show 
HG00280.hp2
HG01175.hp1
HG01496.hp1
HG01884.hp2
HG01981.hp2
HG02074.hp1
HG02074.hp2
HG02129.hp1
HG02132.hp1
HG02523.hp2
HG02698.hp2
HG02896.hp2
HG03041.hp1
HG03225.hp2
HG03471.hp1
HG03654.hp1
HG04115.hp1
HG04199.hp1
NA18939.hp2
NA18964.hp1
NA18983.hp1
NA19000.hp1
NA19002.hp2
NA19074.hp2
NA20129.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.522+8707_522+8715d
others(11): Show 
c.522+8707_522+8715dupAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8605845
chr1:8605845 C
C
 CTTTTTTT
others(3): Show 
CTTTTTTTTTT
 8 a0001c0001t0001g0066
a0001c0002t0002g0148
a0001c0002t0002g0152
others(5): Show 
a0001c0001t0001g0066
a0001c0002t0002g0148
a0001c0002t0002g0152
a0001c0002t0002g0163
a0001c0002t0005g0116
a0001c0004t0006g0146
a0002c0006t0003g0090
a0002c0006t0003g0097
 8 HG00639.hp1
HG02027.hp1
HG02165.hp1
others(5): Show 
HG00639.hp1
HG02027.hp1
HG02165.hp1
HG02451.hp1
HG03540.hp1
HG04184.hp1
NA18944.hp2
NA19043.hp1
 intron_variant MODIFIER c.522+8706_522+8715d
others(12): Show 
c.522+8706_522+8715dupAAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8605845
chr1:8605845 C
C
 CTTTTTTT
others(4): Show 
CTTTTTTTTTTT
 1 a0002c0006t0024g0081
a0002c0006t0024g0081
 1 NA19005.hp2
NA19005.hp2
 intron_variant MODIFIER c.522+8705_522+8715d
others(13): Show 
c.522+8705_522+8715dupAAAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8605845
chr1:8605845 C
C
 CTTTTTTT
others(5): Show 
CTTTTTTTTTTTT
 1 a0010c0027t0003g0086
a0010c0027t0003g0086
 1 NA18985.hp1
NA18985.hp1
 intron_variant MODIFIER c.522+8704_522+8715d
others(14): Show 
c.522+8704_522+8715dupAAAAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8605845
chr1:8605845 C
C
 CTTTTTTT
others(8): Show 
CTTTTTTTTTTTTTTT
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.522+8701_522+8715d
others(17): Show 
c.522+8701_522+8715dupAAAAAAAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8605845
chr1:8605845 C
C
 CTTTTTTT
others(10): Show 
CTTTTTTTTTTTTTTTTT
 1 a0001c0004t0010g0107
a0001c0004t0010g0107
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.522+8699_522+8715d
others(19): Show 
c.522+8699_522+8715dupAAAAAAAAAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8605845
chr1:8605845 C
C
 CTTTTTTT
others(11): Show 
CTTTTTTTTTTTTTTTTTT
 1 a0001c0004t0027g0106
a0001c0004t0027g0106
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.522+8715_522+8716i
others(20): Show 
c.522+8715_522+8716insAAAAAAAAAAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8605845
chr1:8606352 T
T
 C
C
 39 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(36): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0008c0017t0003g0101
a0010c0027t0003g0086
 39 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(36): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02735.hp2
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.522+8209A>G
c.522+8209A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8606352
chr1:8606475 G
G
 A
A
 1 a0001c0001t0001g0069
a0001c0001t0001g0069
 1 NA19000.hp2
NA19000.hp2
 intron_variant MODIFIER c.522+8086C>T
c.522+8086C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8606475
chr1:8606489 C
C
 A
A
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.522+8072G>T
c.522+8072G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8606489
chr1:8606517 A
A
 T
T
 12 a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
others(9): Show 
a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0004t0022g0121
a0009c0021t0003g0135
 12 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(9): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03225.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.522+8044T>A
c.522+8044T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8606517
chr1:8606936 AATTT
AATTT
 A
A
 2 a0001c0001t0001g0033
a0001c0002t0002g0163
a0001c0001t0001g0033
a0001c0002t0002g0163
 2 HG01884.hp2
HG02451.hp1
HG01884.hp2
HG02451.hp1
 intron_variant MODIFIER c.522+7621_522+7624d
others(6): Show 
c.522+7621_522+7624delAAAT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8606936
chr1:8606944 T
T
 C
C
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.522+7617A>G
c.522+7617A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8606944
chr1:8607190 G
G
 A
A
 3 a0001c0001t0001g0045
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0001t0001g0045
a0001c0007t0004g0044
a0001c0007t0004g0047
 3 NA18964.hp2
NA19002.hp1
NA19070.hp2
NA18964.hp2
NA19002.hp1
NA19070.hp2
 intron_variant MODIFIER c.522+7371C>T
c.522+7371C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8607190
chr1:8607291 T
T
 C
C
 1 a0001c0002t0002g0193
a0001c0002t0002g0193
 1 HG01358.hp1
HG01358.hp1
 intron_variant MODIFIER c.522+7270A>G
c.522+7270A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8607291
chr1:8607362 C
C
 CA
CA
 17 a0001c0001t0001g0045
a0001c0001t0001g0067
a0001c0001t0001g0076
others(14): Show 
a0001c0001t0001g0045
a0001c0001t0001g0067
a0001c0001t0001g0076
a0001c0001t0003g0118
a0001c0001t0003g0124
a0001c0001t0031g0144
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0004t0003g0092
a0001c0004t0006g0146
a0001c0005t0026g0127
a0001c0007t0004g0047
a0001c0010t0013g0024
a0005c0013t0021g0023
a0005c0013t0029g0111
 17 HG01433.hp1
HG02523.hp2
HG02622.hp2
others(14): Show 
HG01433.hp1
HG02523.hp2
HG02622.hp2
HG03041.hp1
HG03453.hp1
HG03471.hp1
HG03491.hp2
HG03540.hp2
HG03831.hp2
NA18993.hp2
NA19002.hp1
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19090.hp1
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.522+7198dupT
c.522+7198dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8607362
chr1:8607362 C
C
 CAA
CAA
 5 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(2): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
 5 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(2): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.522+7197_522+7198d
others(4): Show 
c.522+7197_522+7198dupTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8607362
chr1:8607530 A
A
 T
T
 1 a0001c0001t0001g0004
a0001c0001t0001g0004
 1 NA19074.hp1
NA19074.hp1
 intron_variant MODIFIER c.522+7031T>A
c.522+7031T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8607530
chr1:8607534 C
C
 CT
CT
 7 a0001c0001t0001g0033
a0001c0001t0001g0039
a0001c0002t0002g0151
others(4): Show 
a0001c0001t0001g0033
a0001c0001t0001g0039
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0183
 7 HG01261.hp2
HG01884.hp2
HG01934.hp2
others(4): Show 
HG01261.hp2
HG01884.hp2
HG01934.hp2
HG02004.hp2
HG02027.hp2
HG02559.hp2
HG03540.hp1
 intron_variant MODIFIER c.522+7026dupA
c.522+7026dupA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8607534
chr1:8607534 C
C
 CTT
CTT
 6 a0001c0002t0002g0179
a0001c0003t0004g0011
a0001c0003t0004g0012
others(3): Show 
a0001c0002t0002g0179
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0011g0112
a0002c0006t0003g0139
a0002c0026t0008g0140
 6 HG00544.hp2
HG01361.hp2
HG01981.hp1
others(3): Show 
HG00544.hp2
HG01361.hp2
HG01981.hp1
HG02683.hp2
HG03516.hp2
NA18946.hp1
 intron_variant MODIFIER c.522+7025_522+7026d
others(4): Show 
c.522+7025_522+7026dupAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8607534
chr1:8607534 C
C
 CTTTTTT
CTTTTTT
 6 a0001c0001t0001g0038
a0001c0001t0001g0048
a0001c0001t0001g0051
others(3): Show 
a0001c0001t0001g0038
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0056
a0001c0001t0001g0062
a0001c0001t0001g0070
 6 HG01167.hp2
HG01496.hp2
HG02129.hp2
others(3): Show 
HG01167.hp2
HG01496.hp2
HG02129.hp2
HG02523.hp1
NA19009.hp1
NA19085.hp2
 intron_variant MODIFIER c.522+7021_522+7026d
others(8): Show 
c.522+7021_522+7026dupAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8607534
chr1:8607534 C
C
 CTTTTTTT
CTTTTTTT
 9 a0001c0001t0001g0013
a0001c0001t0001g0040
a0001c0001t0001g0052
others(6): Show 
a0001c0001t0001g0013
a0001c0001t0001g0040
a0001c0001t0001g0052
a0001c0001t0001g0057
a0001c0001t0001g0069
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0011t0007g0028
a0001c0018t0001g0005
 9 HG01169.hp2
HG01192.hp2
HG02155.hp1
others(6): Show 
HG01169.hp2
HG01192.hp2
HG02155.hp1
HG02451.hp2
HG03688.hp1
NA18983.hp2
NA19000.hp2
NA19007.hp1
NA19090.hp1
 intron_variant MODIFIER c.522+7020_522+7026d
others(9): Show 
c.522+7020_522+7026dupAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8607534
chr1:8607534 C
C
 CTTTTTTT
others(1): Show 
CTTTTTTTT
 5 a0001c0001t0001g0061
a0001c0001t0001g0075
a0001c0001t0003g0141
others(2): Show 
a0001c0001t0001g0061
a0001c0001t0001g0075
a0001c0001t0003g0141
a0001c0001t0036g0194
a0001c0004t0003g0092
 5 HG01433.hp1
HG02683.hp1
NA18967.hp1
others(2): Show 
HG01433.hp1
HG02683.hp1
NA18967.hp1
NA18985.hp2
NA20300.hp1
 intron_variant MODIFIER c.522+7019_522+7026d
others(10): Show 
c.522+7019_522+7026dupAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8607534
chr1:8607534 C
C
 CTTTTTTT
others(3): Show 
CTTTTTTTTTT
 10 a0001c0001t0001g0043
a0001c0001t0001g0055
a0001c0001t0001g0058
others(7): Show 
a0001c0001t0001g0043
a0001c0001t0001g0055
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0066
a0001c0001t0006g0184
a0001c0002t0013g0053
a0001c0004t0001g0003
a0001c0010t0007g0034
 10 HG00280.hp1
HG01261.hp1
HG02027.hp1
others(7): Show 
HG00280.hp1
HG01261.hp1
HG02027.hp1
HG02074.hp2
HG02486.hp2
HG02965.hp1
HG04184.hp2
HG04199.hp2
NA18944.hp1
NA20905.hp1
 intron_variant MODIFIER c.522+7017_522+7026d
others(12): Show 
c.522+7017_522+7026dupAAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8607534
chr1:8607534 C
C
 CTTTTTTT
others(4): Show 
CTTTTTTTTTTT
 7 a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0067
others(4): Show 
a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0067
a0001c0001t0003g0124
a0001c0003t0004g0068
a0001c0003t0012g0022
a0001c0007t0004g0047
 7 HG02258.hp1
HG02258.hp2
HG03491.hp2
others(4): Show 
HG02258.hp1
HG02258.hp2
HG03491.hp2
HG03831.hp2
NA19005.hp1
NA19043.hp2
NA19070.hp2
 intron_variant MODIFIER c.522+7016_522+7026d
others(13): Show 
c.522+7016_522+7026dupAAAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8607534
chr1:8607534 C
C
 CTTTTTTT
others(5): Show 
CTTTTTTTTTTTT
 4 a0001c0001t0001g0037
a0001c0001t0001g0065
a0003c0008t0001g0031
others(1): Show 
a0001c0001t0001g0037
a0001c0001t0001g0065
a0003c0008t0001g0031
a0003c0008t0001g0071
 4 HG02080.hp1
HG03041.hp2
HG03139.hp2
others(1): Show 
HG02080.hp1
HG03041.hp2
HG03139.hp2
NA18906.hp1
 intron_variant MODIFIER c.522+7015_522+7026d
others(14): Show 
c.522+7015_522+7026dupAAAAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8607534
chr1:8607534 C
C
 CTTTTTTT
others(6): Show 
CTTTTTTTTTTTTT
 1 a0003c0008t0001g0006
a0003c0008t0001g0006
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.522+7014_522+7026d
others(15): Show 
c.522+7014_522+7026dupAAAAAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8607534
chr1:8607534 C
C
 CTTTTTTT
others(7): Show 
CTTTTTTTTTTTTTT
 2 a0001c0016t0020g0001
a0003c0008t0001g0072
a0001c0016t0020g0001
a0003c0008t0001g0072
 2 HG02647.hp1
NA20129.hp2
HG02647.hp1
NA20129.hp2
 intron_variant MODIFIER c.522+7013_522+7026d
others(16): Show 
c.522+7013_522+7026dupAAAAAAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8607534
chr1:8607534 C
C
 CTTTTTTT
others(8): Show 
CTTTTTTTTTTTTTTT
 2 a0001c0003t0004g0035
a0001c0015t0001g0009
a0001c0003t0004g0035
a0001c0015t0001g0009
 2 HG00639.hp2
HG02896.hp1
HG00639.hp2
HG02896.hp1
 intron_variant MODIFIER c.522+7012_522+7026d
others(17): Show 
c.522+7012_522+7026dupAAAAAAAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8607534
chr1:8607534 C
C
 CTTTTTTT
others(12): Show 
CTTTTTTTTTTTTTTTTTTT
 2 a0001c0003t0015g0147
a0001c0010t0013g0024
a0001c0003t0015g0147
a0001c0010t0013g0024
 2 HG02280.hp2
HG03540.hp2
HG02280.hp2
HG03540.hp2
 intron_variant MODIFIER c.522+7008_522+7026d
others(21): Show 
c.522+7008_522+7026dupAAAAAAAAAAAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8607534
chr1:8607534 C
C
 CTTTTTTT
others(13): Show 
CTTTTTTTTTTTTTTTTTTTT
 1 a0001c0011t0007g0027
a0001c0011t0007g0027
 1 HG02723.hp2
HG02723.hp2
 intron_variant MODIFIER c.522+7007_522+7026d
others(22): Show 
c.522+7007_522+7026dupAAAAAAAAAAAAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8607534
chr1:8607534 C
C
 CTTTTTTT
others(14): Show 
CTTTTTTTTTTTTTTTTTTTTT
 3 a0001c0001t0001g0073
a0001c0003t0011g0108
a0001c0005t0019g0030
a0001c0001t0001g0073
a0001c0003t0011g0108
a0001c0005t0019g0030
 3 HG03130.hp2
HG03139.hp1
HG06807.hp2
HG03130.hp2
HG03139.hp1
HG06807.hp2
 intron_variant MODIFIER c.522+7006_522+7026d
others(23): Show 
c.522+7006_522+7026dupAAAAAAAAAAAAAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8607534
chr1:8607534 C
C
 CTTTTTTT
others(16): Show 
CTTTTTTTTTTTTTTTTTTTTTTT
 1 a0001c0003t0004g0014
a0001c0003t0004g0014
 1 HG01358.hp2
HG01358.hp2
 intron_variant MODIFIER c.522+7004_522+7026d
others(25): Show 
c.522+7004_522+7026dupAAAAAAAAAAAAAAAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8607534
chr1:8607534 C
C
 CTTTTTTT
others(18): Show 
CTTTTTTTTTTTTTTTTTTTTTTTTT
 2 a0001c0003t0012g0018
a0001c0011t0007g0029
a0001c0003t0012g0018
a0001c0011t0007g0029
 2 HG02280.hp1
HG02622.hp2
HG02280.hp1
HG02622.hp2
 intron_variant MODIFIER c.522+7002_522+7026d
others(27): Show 
c.522+7002_522+7026dupAAAAAAAAAAAAAAAAAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8607534
chr1:8607534 C
C
 CTTTTTTT
others(19): Show 
CTTTTTTTTTTTTTTTTTTTTTTTTTT
 1 a0006c0025t0007g0025
a0006c0025t0007g0025
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.522+7001_522+7026d
others(28): Show 
c.522+7001_522+7026dupAAAAAAAAAAAAAAAAAAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8607534
chr1:8607534 C
C
 CTTTTTTT
others(24): Show 
CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
 1 a0001c0003t0004g0078
a0001c0003t0004g0078
 1 NA19009.hp2
NA19009.hp2
 intron_variant MODIFIER c.522+7026_522+7027i
others(33): Show 
c.522+7026_522+7027insAAAAAAAAAAAAAAAAAAAAAAAAAAAA
AAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8607534
chr1:8607534 C
C
 CTTTTTTT
others(25): Show 
CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
 1 a0001c0010t0007g0026
a0001c0010t0007g0026
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.522+7026_522+7027i
others(34): Show 
c.522+7026_522+7027insAAAAAAAAAAAAAAAAAAAAAAAAAAAA
AAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8607534
chr1:8607534 C
C
 T
T
 2 a0001c0001t0001g0004
a0001c0001t0001g0064
a0001c0001t0001g0004
a0001c0001t0001g0064
 2 HG00597.hp2
NA19074.hp1
HG00597.hp2
NA19074.hp1
 intron_variant MODIFIER c.522+7027G>A
c.522+7027G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8607534
chr1:8607534 CT
CT
 C
C
 21 a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
others(18): Show 
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0159
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0169
a0001c0002t0002g0173
a0001c0002t0002g0177
a0001c0002t0002g0180
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0193
a0001c0002t0033g0186
a0001c0002t0035g0160
a0008c0017t0003g0101
 21 HG01168.hp1
HG01169.hp1
HG01255.hp2
others(18): Show 
HG01168.hp1
HG01169.hp1
HG01255.hp2
HG01358.hp1
HG01981.hp2
HG02080.hp2
HG02129.hp1
HG02132.hp2
HG02486.hp1
HG02602.hp1
HG02698.hp2
HG02735.hp1
HG03209.hp2
HG03225.hp2
HG03669.hp2
HG04199.hp1
NA19070.hp1
NA19085.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp2
 intron_variant MODIFIER c.522+7026delA
c.522+7026delA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8607534
chr1:8607534 CTT
CTT
 C
C
 17 a0001c0001t0003g0087
a0001c0001t0003g0115
a0001c0001t0003g0122
others(14): Show 
a0001c0001t0003g0087
a0001c0001t0003g0115
a0001c0001t0003g0122
a0001c0001t0016g0054
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0005g0110
a0001c0002t0005g0128
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0004t0003g0109
a0001c0007t0003g0098
a0001c0023t0002g0175
a0002c0006t0003g0097
a0005c0013t0021g0023
a0005c0013t0029g0111
a0009c0021t0003g0135
 17 HG00597.hp1
HG01175.hp2
HG01884.hp1
others(14): Show 
HG00597.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02293.hp1
HG02723.hp1
HG03041.hp1
HG03471.hp1
HG03471.hp2
HG03669.hp1
NA18939.hp2
NA18944.hp2
NA18946.hp2
NA18967.hp2
NA19000.hp1
NA21309.hp2
 intron_variant MODIFIER c.522+7025_522+7026d
others(4): Show 
c.522+7025_522+7026delAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8607534
chr1:8607534 CTTT
CTTT
 C
C
 34 a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
others(31): Show 
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0028g0133
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0006g0146
a0001c0004t0010g0120
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0024g0081
a0010c0027t0003g0086
 34 HG00280.hp2
HG00639.hp1
HG01167.hp1
others(31): Show 
HG00280.hp2
HG00639.hp1
HG01167.hp1
HG01496.hp1
HG01515.hp1
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02523.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03225.hp1
HG03491.hp1
HG03688.hp2
HG04228.hp2
NA18906.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
 intron_variant MODIFIER c.522+7024_522+7026d
others(5): Show 
c.522+7024_522+7026delAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8607534
chr1:8607534 CTTTT
CTTTT
 C
C
 6 a0001c0001t0037g0196
a0001c0002t0018g0002
a0001c0004t0005g0079
others(3): Show 
a0001c0001t0037g0196
a0001c0002t0018g0002
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0014g0126
a0001c0005t0026g0127
 6 HG01433.hp2
HG01517.hp2
HG02559.hp1
others(3): Show 
HG01433.hp2
HG01517.hp2
HG02559.hp1
HG02735.hp2
HG02965.hp2
NA21309.hp1
 intron_variant MODIFIER c.522+7023_522+7026d
others(6): Show 
c.522+7023_522+7026delAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8607534
chr1:8607534 CTTTTT
CTTTTT
 C
C
 6 a0001c0001t0003g0104
a0001c0004t0001g0049
a0001c0004t0010g0107
others(3): Show 
a0001c0001t0003g0104
a0001c0004t0001g0049
a0001c0004t0010g0107
a0001c0004t0010g0142
a0001c0004t0027g0106
a0001c0009t0041g0198
 6 HG00609.hp1
HG00609.hp2
HG02145.hp1
others(3): Show 
HG00609.hp1
HG00609.hp2
HG02145.hp1
HG02886.hp2
HG03453.hp2
HG03579.hp2
 intron_variant MODIFIER c.522+7022_522+7026d
others(7): Show 
c.522+7022_522+7026delAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8607534
chr1:8607534 CTTTTTT
CTTTTTT
 C
C
 7 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0003t0017g0032
others(4): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0003t0017g0032
a0001c0004t0040g0199
a0001c0005t0034g0156
a0001c0007t0001g0008
a0007c0020t0039g0197
 7 HG02622.hp1
HG02970.hp2
HG03130.hp1
others(4): Show 
HG02622.hp1
HG02970.hp2
HG03130.hp1
HG03579.hp1
HG03831.hp1
HG04115.hp2
HG06807.hp1
 intron_variant MODIFIER c.522+7021_522+7026d
others(8): Show 
c.522+7021_522+7026delAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8607534
chr1:8607534 CTTTTTTT
CTTTTTTT
 C
C
 5 a0001c0003t0004g0017
a0001c0003t0004g0021
a0001c0003t0008g0105
others(2): Show 
a0001c0003t0004g0017
a0001c0003t0004g0021
a0001c0003t0008g0105
a0001c0009t0004g0016
a0001c0009t0004g0020
 5 HG00140.hp1
HG00741.hp2
HG01168.hp2
others(2): Show 
HG00140.hp1
HG00741.hp2
HG01168.hp2
HG01192.hp1
HG01255.hp1
 intron_variant MODIFIER c.522+7020_522+7026d
others(9): Show 
c.522+7020_522+7026delAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8607534
chr1:8607534 CTTTTTTT
others(5): Show 
CTTTTTTTTTTTT
 C
C
 1 a0001c0002t0005g0125
a0001c0002t0005g0125
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.522+7015_522+7026d
others(14): Show 
c.522+7015_522+7026delAAAAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8607534
chr1:8607534 CTTTTTTT
others(6): Show 
CTTTTTTTTTTTTT
 C
C
 5 a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
others(2): Show 
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
 5 HG02109.hp1
HG02257.hp2
HG02818.hp1
others(2): Show 
HG02109.hp1
HG02257.hp2
HG02818.hp1
HG03209.hp1
HG03516.hp1
 intron_variant MODIFIER c.522+7014_522+7026d
others(15): Show 
c.522+7014_522+7026delAAAAAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8607534
chr1:8607725 C
C
 CT
CT
 78 a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
others(75): Show 
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0002t0002g0161
a0001c0002t0002g0192
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0068
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0004t0001g0003
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0004t0040g0199
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0139
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0006c0025t0007g0025
 78 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(75): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00597.hp2
HG00639.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02080.hp1
HG02129.hp2
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03453.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18944.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19043.hp2
NA19070.hp2
NA19085.hp2
NA20129.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.522+6835dupA
c.522+6835dupA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8607725
chr1:8607725 C
C
 CTT
CTT
 10 a0001c0001t0001g0004
a0001c0001t0001g0040
a0001c0001t0001g0043
others(7): Show 
a0001c0001t0001g0004
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0061
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0004t0001g0049
a0001c0015t0001g0009
 10 HG00544.hp2
HG00609.hp2
HG00741.hp2
others(7): Show 
HG00544.hp2
HG00609.hp2
HG00741.hp2
HG02074.hp2
HG02155.hp1
HG02896.hp1
NA18946.hp1
NA19009.hp2
NA19074.hp1
NA20300.hp1
 intron_variant MODIFIER c.522+6834_522+6835d
others(4): Show 
c.522+6834_522+6835dupAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8607725
chr1:8607794 C
C
 T
T
 5 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(2): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
 5 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(2): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.522+6767G>A
c.522+6767G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8607794
chr1:8607827 G
G
 A
A
 1 a0001c0002t0002g0193
a0001c0002t0002g0193
 1 HG01358.hp1
HG01358.hp1
 intron_variant MODIFIER c.522+6734C>T
c.522+6734C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8607827
chr1:8607989 G
G
 C
C
 38 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(35): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0008c0017t0003g0101
a0010c0027t0003g0086
 38 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(35): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02735.hp2
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.522+6572C>G
c.522+6572C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8607989
chr1:8608140 C
C
 T
T
 5 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(2): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
 5 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(2): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.522+6421G>A
c.522+6421G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8608140
chr1:8608211 C
C
 A
A
 5 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(2): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
 5 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(2): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.522+6350G>T
c.522+6350G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8608211
chr1:8608579 A
A
 G
G
 1 a0001c0001t0001g0069
a0001c0001t0001g0069
 1 NA19000.hp2
NA19000.hp2
 intron_variant MODIFIER c.522+5982T>C
c.522+5982T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8608579
chr1:8608711 T
T
 G
G
 5 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(2): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
 5 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(2): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.522+5850A>C
c.522+5850A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8608711
chr1:8609111 A
A
 G
G
 162 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(159): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 162 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(159): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.522+5450T>C
c.522+5450T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8609111
chr1:8609150 G
G
 A
A
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.522+5411C>T
c.522+5411C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8609150
chr1:8609196 C
C
 T
T
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.522+5365G>A
c.522+5365G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8609196
chr1:8609204 C
C
 A
A
 1 a0001c0002t0005g0110
a0001c0002t0005g0110
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.522+5357G>T
c.522+5357G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8609204
chr1:8609437 TG
TG
 T
T
 12 a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
others(9): Show 
a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0004t0022g0121
a0009c0021t0003g0135
 12 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(9): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03225.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.522+5123delC
c.522+5123delC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8609437
chr1:8609680 A
A
 G
G
 1 a0001c0002t0005g0116
a0001c0002t0005g0116
 1 HG00639.hp1
HG00639.hp1
 intron_variant MODIFIER c.522+4881T>C
c.522+4881T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8609680
chr1:8609852 C
C
 T
T
 9 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0003t0012g0018
others(6): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0015t0001g0009
a0002c0006t0003g0091
 9 HG02622.hp1
HG02622.hp2
HG02886.hp2
others(6): Show 
HG02622.hp1
HG02622.hp2
HG02886.hp2
HG02896.hp1
HG03130.hp1
HG03453.hp2
HG03579.hp1
NA19002.hp2
NA19043.hp2
 intron_variant MODIFIER c.522+4709G>A
c.522+4709G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8609852
chr1:8609883 C
C
 T
T
 1 a0001c0003t0004g0021
a0001c0003t0004g0021
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.522+4678G>A
c.522+4678G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8609883
chr1:8610028 C
C
 A
A
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.522+4533G>T
c.522+4533G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8610028
chr1:8610032 C
C
 G
G
 5 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(2): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
 5 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(2): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.522+4529G>C
c.522+4529G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8610032
chr1:8610107 G
G
 A
A
 2 a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0004g0016
a0001c0009t0004g0020
 2 HG01168.hp2
HG01255.hp1
HG01168.hp2
HG01255.hp1
 intron_variant MODIFIER c.522+4454C>T
c.522+4454C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8610107
chr1:8610147 A
A
 C
C
 93 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(90): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0088
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0094
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
 93 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(90): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03453.hp1
HG03471.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.522+4414T>G
c.522+4414T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8610147
chr1:8610233 G
G
 A
A
 5 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(2): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
 5 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(2): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.522+4328C>T
c.522+4328C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8610233
chr1:8610289 T
T
 C
C
 1 a0001c0003t0004g0078
a0001c0003t0004g0078
 1 NA19009.hp2
NA19009.hp2
 intron_variant MODIFIER c.522+4272A>G
c.522+4272A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8610289
chr1:8610332 T
T
 C
C
 1 a0001c0004t0003g0109
a0001c0004t0003g0109
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.522+4229A>G
c.522+4229A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8610332
chr1:8610407 A
A
 G
G
 165 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(162): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0002g0167
a0001c0002t0002g0176
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0001c0023t0002g0175
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 165 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(162): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.522+4154T>C
c.522+4154T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8610407
chr1:8610487 G
G
 A
A
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.522+4074C>T
c.522+4074C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8610487
chr1:8610670 T
T
 C
C
 1 a0001c0003t0008g0105
a0001c0003t0008g0105
 1 HG00741.hp2
HG00741.hp2
 intron_variant MODIFIER c.522+3891A>G
c.522+3891A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8610670
chr1:8610894 T
T
 TA
TA
 5 a0001c0001t0001g0043
a0001c0003t0004g0011
a0001c0004t0010g0107
others(2): Show 
a0001c0001t0001g0043
a0001c0003t0004g0011
a0001c0004t0010g0107
a0001c0004t0027g0106
a0008c0017t0003g0101
 5 HG02074.hp2
HG02886.hp2
HG03453.hp2
others(2): Show 
HG02074.hp2
HG02886.hp2
HG03453.hp2
NA18946.hp1
NA20905.hp2
 intron_variant MODIFIER c.522+3666dupT
c.522+3666dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8610894
chr1:8610934 T
T
 C
C
 162 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(159): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 162 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(159): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.522+3627A>G
c.522+3627A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8610934
chr1:8610970 G
G
 T
T
 1 a0004c0012t0008g0137
a0004c0012t0008g0137
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.522+3591C>A
c.522+3591C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8610970
chr1:8611087 C
C
 T
T
 1 a0001c0007t0003g0099
a0001c0007t0003g0099
 1 NA20752.hp2
NA20752.hp2
 intron_variant MODIFIER c.522+3474G>A
c.522+3474G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8611087
chr1:8611163 C
C
 T
T
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.522+3398G>A
c.522+3398G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8611163
chr1:8611193 T
T
 G
G
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.522+3368A>C
c.522+3368A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8611193
chr1:8611262 G
G
 A
A
 2 a0001c0001t0001g0060
a0001c0001t0001g0063
a0001c0001t0001g0060
a0001c0001t0001g0063
 2 HG00140.hp2
HG02486.hp2
HG00140.hp2
HG02486.hp2
 intron_variant MODIFIER c.522+3299C>T
c.522+3299C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8611262
chr1:8611338 TACTAAAA
others(5): Show 
TACTAAAAGTACA
 T
T
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.522+3211_522+3222d
others(14): Show 
c.522+3211_522+3222delTGTACTTTTAGT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8611338
chr1:8611419 G
G
 A
A
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.522+3142C>T
c.522+3142C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8611419
chr1:8611538 C
C
 T
T
 1 a0001c0004t0010g0142
a0001c0004t0010g0142
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.522+3023G>A
c.522+3023G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8611538
chr1:8611643 GCTAA
GCTAA
 G
G
 2 a0001c0002t0005g0110
a0005c0013t0029g0111
a0001c0002t0005g0110
a0005c0013t0029g0111
 2 HG02723.hp1
HG03041.hp1
HG02723.hp1
HG03041.hp1
 intron_variant MODIFIER c.522+2914_522+2917d
others(6): Show 
c.522+2914_522+2917delTTAG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8611643
chr1:8611675 T
T
 C
C
 1 a0001c0002t0005g0114
a0001c0002t0005g0114
 1 HG02004.hp1
HG02004.hp1
 intron_variant MODIFIER c.522+2886A>G
c.522+2886A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8611675
chr1:8611720 G
G
 C
C
 161 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(158): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 161 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(158): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.522+2841C>G
c.522+2841C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8611720
chr1:8611814 T
T
 C
C
 1 a0001c0004t0010g0142
a0001c0004t0010g0142
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.522+2747A>G
c.522+2747A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8611814
chr1:8611887 C
C
 A
A
 2 a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0001t0037g0196
a0001c0001t0038g0195
 2 HG01515.hp1
HG01517.hp2
HG01515.hp1
HG01517.hp2
 intron_variant MODIFIER c.522+2674G>T
c.522+2674G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8611887
chr1:8611921 C
C
 T
T
 1 a0001c0004t0010g0142
a0001c0004t0010g0142
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.522+2640G>A
c.522+2640G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8611921
chr1:8612807 T
T
 G
G
 3 a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0025g0080
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0025g0080
 3 HG01433.hp2
HG02735.hp2
HG04228.hp2
HG01433.hp2
HG02735.hp2
HG04228.hp2
 intron_variant MODIFIER c.522+1754A>C
c.522+1754A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8612807
chr1:8612808 A
A
 T
T
 3 a0001c0001t0003g0100
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0100
a0001c0001t0003g0103
a0001c0001t0003g0104
 3 HG00609.hp1
NA19007.hp2
NA19090.hp2
HG00609.hp1
NA19007.hp2
NA19090.hp2
 intron_variant MODIFIER c.522+1753T>A
c.522+1753T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8612808
chr1:8612933 A
A
 G
G
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.522+1628T>C
c.522+1628T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8612933
chr1:8613107 C
C
 A
A
 1 a0001c0002t0002g0169
a0001c0002t0002g0169
 1 HG02132.hp2
HG02132.hp2
 intron_variant MODIFIER c.522+1454G>T
c.522+1454G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8613107
chr1:8613211 G
G
 A
A
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.522+1350C>T
c.522+1350C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8613211
chr1:8613386 C
C
 T
T
 1 a0001c0007t0004g0044
a0001c0007t0004g0044
 1 NA18964.hp2
NA18964.hp2
 intron_variant MODIFIER c.522+1175G>A
c.522+1175G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8613386
chr1:8613387 G
G
 A
A
 1 a0001c0016t0020g0001
a0001c0016t0020g0001
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.522+1174C>T
c.522+1174C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8613387
chr1:8613505 A
A
 G
G
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.522+1056T>C
c.522+1056T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8613505
chr1:8613568 C
C
 T
T
 1 a0001c0001t0003g0141
a0001c0001t0003g0141
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.522+993G>A
c.522+993G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8613568
chr1:8613879 TAA
TAA
 T
T
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.522+680_522+681del
others(2): Show 
c.522+680_522+681delTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8613879
chr1:8614258 T
T
 C
C
 1 a0001c0001t0006g0154
a0001c0001t0006g0154
 1 NA20300.hp2
NA20300.hp2
 intron_variant MODIFIER c.522+303A>G
c.522+303A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8614258
chr1:8614533 T
T
 G
G
 1 a0001c0002t0005g0116
a0001c0002t0005g0116
 1 HG00639.hp1
HG00639.hp1
 intron_variant MODIFIER c.522+28A>C
c.522+28A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 4/22 chr1 8614533
chr1:8614767 C
C
 T
T
 1 a0001c0002t0002g0177
a0001c0002t0002g0177
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.397-81G>A
c.397-81G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8614767
chr1:8614807 C
C
 T
T
 1 a0001c0003t0015g0147
a0001c0003t0015g0147
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.397-121G>A
c.397-121G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8614807
chr1:8614982 G
G
 A
A
 1 a0001c0002t0005g0114
a0001c0002t0005g0114
 1 HG02004.hp1
HG02004.hp1
 intron_variant MODIFIER c.397-296C>T
c.397-296C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8614982
chr1:8615053 C
C
 T
T
 1 a0001c0001t0031g0144
a0001c0001t0031g0144
 1 NA18993.hp2
NA18993.hp2
 intron_variant MODIFIER c.397-367G>A
c.397-367G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8615053
chr1:8615128 T
T
 C
C
 1 a0001c0001t0001g0070
a0001c0001t0001g0070
 1 NA19009.hp1
NA19009.hp1
 intron_variant MODIFIER c.397-442A>G
c.397-442A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8615128
chr1:8615202 C
C
 A
A
 1 a0001c0004t0010g0142
a0001c0004t0010g0142
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.397-516G>T
c.397-516G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8615202
chr1:8615336 C
C
 T
T
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.397-650G>A
c.397-650G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8615336
chr1:8615596 T
T
 A
A
 1 a0001c0001t0001g0069
a0001c0001t0001g0069
 1 NA19000.hp2
NA19000.hp2
 intron_variant MODIFIER c.397-910A>T
c.397-910A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8615596
chr1:8615785 G
G
 GAC
GAC
 4 a0001c0002t0005g0125
a0001c0003t0015g0147
a0001c0004t0003g0109
others(1): Show 
a0001c0002t0005g0125
a0001c0003t0015g0147
a0001c0004t0003g0109
a0001c0005t0009g0201
 4 HG02257.hp2
HG02280.hp2
HG03453.hp1
others(1): Show 
HG02257.hp2
HG02280.hp2
HG03453.hp1
NA21309.hp2
 intron_variant MODIFIER c.397-1101_397-1100d
others(4): Show 
c.397-1101_397-1100dupGT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8615785
chr1:8615883 T
T
 C
C
 1 a0001c0001t0006g0181
a0001c0001t0006g0181
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.397-1197A>G
c.397-1197A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8615883
chr1:8616076 C
C
 CAT
CAT
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.397-1392_397-1391d
others(4): Show 
c.397-1392_397-1391dupAT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8616076
chr1:8616189 G
G
 A
A
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.397-1503C>T
c.397-1503C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8616189
chr1:8616329 A
A
 T
T
 1 a0001c0002t0005g0116
a0001c0002t0005g0116
 1 HG00639.hp1
HG00639.hp1
 intron_variant MODIFIER c.397-1643T>A
c.397-1643T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8616329
chr1:8616749 G
G
 A
A
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.397-2063C>T
c.397-2063C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8616749
chr1:8616865 C
C
 A
A
 38 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(35): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0008c0017t0003g0101
a0010c0027t0003g0086
 38 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(35): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02735.hp2
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.397-2179G>T
c.397-2179G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8616865
chr1:8617084 C
C
 A
A
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.397-2398G>T
c.397-2398G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8617084
chr1:8617129 G
G
 T
T
 38 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(35): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0008c0017t0003g0101
a0010c0027t0003g0086
 38 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(35): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02735.hp2
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.397-2443C>A
c.397-2443C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8617129
chr1:8617343 C
C
 CAAAAAAA
others(4): Show 
CAAAAAAAAAAA
 5 a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
others(2): Show 
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
 5 HG02109.hp1
HG02257.hp2
HG02818.hp1
others(2): Show 
HG02109.hp1
HG02257.hp2
HG02818.hp1
HG03209.hp1
HG03516.hp1
 intron_variant MODIFIER c.397-2668_397-2658d
others(13): Show 
c.397-2668_397-2658dupTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8617343
chr1:8617343 C
C
 CAAAAAAA
others(5): Show 
CAAAAAAAAAAAA
 6 a0001c0001t0001g0062
a0001c0002t0013g0053
a0001c0004t0040g0199
others(3): Show 
a0001c0001t0001g0062
a0001c0002t0013g0053
a0001c0004t0040g0199
a0001c0009t0041g0198
a0001c0010t0007g0034
a0007c0020t0039g0197
 6 HG01496.hp2
HG02145.hp1
HG02965.hp1
others(3): Show 
HG01496.hp2
HG02145.hp1
HG02965.hp1
HG02970.hp2
HG06807.hp1
NA20905.hp1
 intron_variant MODIFIER c.397-2669_397-2658d
others(14): Show 
c.397-2669_397-2658dupTTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8617343
chr1:8617343 C
C
 CAAAAAAA
others(6): Show 
CAAAAAAAAAAAAA
 37 a0001c0001t0001g0004
a0001c0001t0001g0038
a0001c0001t0001g0043
others(34): Show 
a0001c0001t0001g0004
a0001c0001t0001g0038
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0073
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0003t0004g0036
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0005t0019g0030
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0018t0001g0005
a0006c0025t0007g0025
 37 HG00140.hp2
HG00280.hp1
HG00597.hp2
others(34): Show 
HG00140.hp2
HG00280.hp1
HG00597.hp2
HG00609.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01261.hp1
HG01433.hp1
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02165.hp2
HG02486.hp2
HG02523.hp1
HG02647.hp2
HG02698.hp1
HG02809.hp2
HG03130.hp2
HG03139.hp1
HG03491.hp2
HG03688.hp1
HG04184.hp2
HG04199.hp2
NA18944.hp1
NA18964.hp2
NA18967.hp1
NA18983.hp2
NA18985.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA20300.hp1
 intron_variant MODIFIER c.397-2670_397-2658d
others(15): Show 
c.397-2670_397-2658dupTTTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8617343
chr1:8617343 C
C
 CAAAAAAA
others(7): Show 
CAAAAAAAAAAAAAA
 24 a0001c0001t0001g0037
a0001c0001t0001g0067
a0001c0001t0001g0070
others(21): Show 
a0001c0001t0001g0037
a0001c0001t0001g0067
a0001c0001t0001g0070
a0001c0001t0001g0076
a0001c0003t0004g0007
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0015g0147
a0001c0007t0001g0008
a0001c0010t0013g0024
a0001c0016t0020g0001
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0005c0013t0021g0023
 24 HG00140.hp1
HG00544.hp2
HG00741.hp2
others(21): Show 
HG00140.hp1
HG00544.hp2
HG00741.hp2
HG01358.hp2
HG02280.hp2
HG02647.hp1
HG02683.hp2
HG02970.hp1
HG03041.hp2
HG03139.hp2
HG03471.hp1
HG03540.hp2
HG03654.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18946.hp1
NA18993.hp1
NA19009.hp1
NA19009.hp2
NA19090.hp1
NA20129.hp2
 intron_variant MODIFIER c.397-2671_397-2658d
others(16): Show 
c.397-2671_397-2658dupTTTTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8617343
chr1:8617343 C
C
 CAAAAAAA
others(8): Show 
CAAAAAAAAAAAAAAA
 18 a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0040
others(15): Show 
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0040
a0001c0001t0001g0074
a0001c0001t0003g0141
a0001c0002t0005g0125
a0001c0003t0004g0010
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0068
a0001c0003t0012g0022
a0001c0003t0017g0032
a0001c0009t0004g0016
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0004c0012t0008g0138
 18 HG01192.hp1
HG01192.hp2
HG01255.hp1
others(15): Show 
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG02155.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02451.hp2
HG02683.hp1
HG02723.hp2
HG02896.hp1
HG02976.hp1
HG02976.hp2
HG03453.hp1
HG04115.hp2
NA18973.hp1
NA19043.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.397-2658_397-2657i
others(17): Show 
c.397-2658_397-2657insTTTTTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8617343
chr1:8617343 C
C
 CAAAAAAA
others(9): Show 
CAAAAAAAAAAAAAAAA
 3 a0001c0001t0001g0039
a0001c0003t0004g0035
a0004c0012t0008g0137
a0001c0001t0001g0039
a0001c0003t0004g0035
a0004c0012t0008g0137
 3 HG00639.hp2
HG02004.hp2
HG03195.hp1
HG00639.hp2
HG02004.hp2
HG03195.hp1
 intron_variant MODIFIER c.397-2658_397-2657i
others(18): Show 
c.397-2658_397-2657insTTTTTTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8617343
chr1:8617343 C
C
 CAAAAAAA
others(11): Show 
CAAAAAAAAAAAAAAAAAA
 1 a0002c0026t0008g0140
a0002c0026t0008g0140
 1 HG01981.hp1
HG01981.hp1
 intron_variant MODIFIER c.397-2658_397-2657i
others(20): Show 
c.397-2658_397-2657insTTTTTTTTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8617343
chr1:8617343 C
C
 CAAAAAAA
others(12): Show 
CAAAAAAAAAAAAAAAAAAA
 1 a0001c0004t0005g0123
a0001c0004t0005g0123
 1 HG02602.hp2
HG02602.hp2
 intron_variant MODIFIER c.397-2658_397-2657i
others(21): Show 
c.397-2658_397-2657insTTTTTTTTTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8617343
chr1:8617343 C
C
 CAAAAAAA
others(13): Show 
CAAAAAAAAAAAAAAAAAAAA
 1 a0002c0006t0003g0139
a0002c0006t0003g0139
 1 HG01361.hp2
HG01361.hp2
 intron_variant MODIFIER c.397-2658_397-2657i
others(22): Show 
c.397-2658_397-2657insTTTTTTTTTTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8617343
chr1:8617343 C
C
 CAAAAAAA
others(22): Show 
CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.397-2658_397-2657i
others(31): Show 
c.397-2658_397-2657insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8617343
chr1:8617383 T
T
 TAAAGAAT
others(314): Show 
TAAAGAATTAAACAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA
CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT
CCTAGCTAACACAGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTA
GCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACGCGGGAGGCTGAG
GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT
CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA
AAAAAAAAAAAAAAAAAAAAAA
 6 a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
others(3): Show 
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 6 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(3): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG03209.hp1
HG06807.hp1
 intron_variant MODIFIER c.397-2698_397-2697i
others(323): Show 
c.397-2698_397-2697insTTTTTTTTTTTTTTTTTTTTTTTTTTGA
GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCG
GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC
CTCCCGCGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTT
TTTGTATTTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCTAGGATGGTC
TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGG
GATTACAGGCGTGAGCCACCGCGCCCGGCCTGTTTAATTCTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8617383
chr1:8617383 T
T
 TAAAGAAT
others(315): Show 
TAAAGAATTAAACAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA
CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT
CCTAGCTAACACAGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTA
GCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACGCGGGAGGCTGAG
GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT
CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA
AAAAAAAAAAAAAAAAAAAAAAA
 2 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0004t0040g0199
a0001c0005t0009g0200
 2 HG02970.hp2
HG03516.hp1
HG02970.hp2
HG03516.hp1
 intron_variant MODIFIER c.397-2698_397-2697i
others(324): Show 
c.397-2698_397-2697insTTTTTTTTTTTTTTTTTTTTTTTTTTTG
AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTC
GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG
CCTCCCGCGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATT
TTTTGTATTTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCTAGGATGGT
CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG
GGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTTTAATTCTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8617383
chr1:8617505 A
A
 G
G
 1 a0001c0003t0004g0021
a0001c0003t0004g0021
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.397-2819T>C
c.397-2819T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8617505
chr1:8617714 C
C
 G
G
 104 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(101): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0002g0157
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
a0007c0020t0039g0197
 104 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(101): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.397-3028G>C
c.397-3028G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8617714
chr1:8617715 A
A
 T
T
 104 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(101): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0002g0157
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
a0007c0020t0039g0197
 104 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(101): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.397-3029T>A
c.397-3029T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8617715
chr1:8617966 CTTGT
CTTGT
 C
C
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.397-3284_397-3281d
others(6): Show 
c.397-3284_397-3281delACAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8617966
chr1:8618193 A
A
 C
C
 4 a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
others(1): Show 
a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0005t0026g0127
 4 HG02559.hp1
HG02965.hp2
HG03579.hp2
others(1): Show 
HG02559.hp1
HG02965.hp2
HG03579.hp2
NA21309.hp1
 intron_variant MODIFIER c.397-3507T>G
c.397-3507T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8618193
chr1:8618193 A
A
 G
G
 5 a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
others(2): Show 
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
 5 HG02109.hp1
HG02257.hp2
HG02818.hp1
others(2): Show 
HG02109.hp1
HG02257.hp2
HG02818.hp1
HG03209.hp1
HG03516.hp1
 intron_variant MODIFIER c.397-3507T>C
c.397-3507T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8618193
chr1:8618441 T
T
 C
C
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.397-3755A>G
c.397-3755A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8618441
chr1:8618513 C
C
 T
T
 1 a0001c0001t0001g0073
a0001c0001t0001g0073
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.397-3827G>A
c.397-3827G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8618513
chr1:8618515 C
C
 T
T
 1 a0005c0013t0029g0111
a0005c0013t0029g0111
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.397-3829G>A
c.397-3829G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8618515
chr1:8618651 C
C
 T
T
 1 a0001c0001t0006g0154
a0001c0001t0006g0154
 1 NA20300.hp2
NA20300.hp2
 intron_variant MODIFIER c.397-3965G>A
c.397-3965G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8618651
chr1:8618725 C
C
 G
G
 1 a0001c0001t0023g0113
a0001c0001t0023g0113
 1 HG00544.hp1
HG00544.hp1
 intron_variant MODIFIER c.397-4039G>C
c.397-4039G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8618725
chr1:8618725 C
C
 T
T
 168 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(165): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0152
a0001c0002t0002g0157
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0177
a0001c0002t0002g0179
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 168 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(165): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.397-4039G>A
c.397-4039G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8618725
chr1:8618879 G
G
 C
C
 2 a0001c0002t0002g0157
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0005t0034g0156
 2 HG02622.hp1
HG03130.hp1
HG02622.hp1
HG03130.hp1
 intron_variant MODIFIER c.397-4193C>G
c.397-4193C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8618879
chr1:8619232 T
T
 C
C
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.397-4546A>G
c.397-4546A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8619232
chr1:8619319 T
T
 G
G
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.397-4633A>C
c.397-4633A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8619319
chr1:8619393 A
A
 G
G
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.397-4707T>C
c.397-4707T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8619393
chr1:8619462 T
T
 C
C
 1 a0001c0001t0001g0073
a0001c0001t0001g0073
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.397-4776A>G
c.397-4776A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8619462
chr1:8619688 T
T
 C
C
 1 a0001c0001t0003g0087
a0001c0001t0003g0087
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.396+4622A>G
c.396+4622A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8619688
chr1:8619752 C
C
 A
A
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.396+4558G>T
c.396+4558G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8619752
chr1:8619789 G
G
 A
A
 98 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(95): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
a0007c0020t0039g0197
 98 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(95): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03453.hp1
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.396+4521C>T
c.396+4521C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8619789
chr1:8619837 G
G
 C
C
 1 a0001c0004t0010g0142
a0001c0004t0010g0142
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.396+4473C>G
c.396+4473C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8619837
chr1:8620266 C
C
 T
T
 1 a0001c0002t0002g0177
a0001c0002t0002g0177
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.396+4044G>A
c.396+4044G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8620266
chr1:8620421 A
A
 T
T
 1 a0001c0001t0003g0122
a0001c0001t0003g0122
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.396+3889T>A
c.396+3889T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8620421
chr1:8620429 C
C
 T
T
 1 a0001c0010t0007g0034
a0001c0010t0007g0034
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.396+3881G>A
c.396+3881G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8620429
chr1:8620672 A
A
 G
G
 2 a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0153
a0001c0001t0006g0154
 2 HG03225.hp2
NA20300.hp2
HG03225.hp2
NA20300.hp2
 intron_variant MODIFIER c.396+3638T>C
c.396+3638T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8620672
chr1:8620863 A
A
 G
G
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.396+3447T>C
c.396+3447T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8620863
chr1:8620975 G
G
 C
C
 1 a0001c0001t0001g0037
a0001c0001t0001g0037
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.396+3335C>G
c.396+3335C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8620975
chr1:8620985 T
T
 C
C
 90 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(87): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
 90 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(87): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03453.hp1
HG03471.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.396+3325A>G
c.396+3325A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8620985
chr1:8621025 A
A
 G
G
 3 a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
 3 HG02647.hp1
HG03041.hp2
HG03139.hp2
HG02647.hp1
HG03041.hp2
HG03139.hp2
 intron_variant MODIFIER c.396+3285T>C
c.396+3285T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8621025
chr1:8621291 C
C
 T
T
 1 a0001c0003t0008g0085
a0001c0003t0008g0085
 1 HG01934.hp1
HG01934.hp1
 intron_variant MODIFIER c.396+3019G>A
c.396+3019G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8621291
chr1:8621491 C
C
 T
T
 39 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(36): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0008c0017t0003g0101
a0010c0027t0003g0086
 39 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(36): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02735.hp2
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.396+2819G>A
c.396+2819G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8621491
chr1:8621492 G
G
 A
A
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.396+2818C>T
c.396+2818C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8621492
chr1:8621585 T
T
 G
G
 13 a0001c0001t0003g0122
a0001c0002t0005g0110
a0001c0002t0005g0128
others(10): Show 
a0001c0001t0003g0122
a0001c0002t0005g0110
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0004t0022g0121
a0009c0021t0003g0135
 13 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(10): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02723.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03225.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.396+2725A>C
c.396+2725A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8621585
chr1:8621789 C
C
 A
A
 39 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(36): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0008c0017t0003g0101
a0010c0027t0003g0086
 39 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(36): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02735.hp2
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.396+2521G>T
c.396+2521G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8621789
chr1:8622259 T
T
 C
C
 2 a0001c0001t0003g0095
a0001c0007t0003g0099
a0001c0001t0003g0095
a0001c0007t0003g0099
 2 NA20129.hp1
NA20752.hp2
NA20129.hp1
NA20752.hp2
 intron_variant MODIFIER c.396+2051A>G
c.396+2051A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8622259
chr1:8622483 GT
GT
 G
G
 8 a0001c0001t0003g0103
a0001c0001t0003g0117
a0001c0002t0018g0002
others(5): Show 
a0001c0001t0003g0103
a0001c0001t0003g0117
a0001c0002t0018g0002
a0001c0003t0008g0085
a0001c0004t0005g0079
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0005t0026g0127
 8 HG01934.hp1
HG02559.hp1
HG02735.hp2
others(5): Show 
HG01934.hp1
HG02559.hp1
HG02735.hp2
HG02965.hp2
HG03579.hp2
NA18973.hp2
NA19090.hp2
NA21309.hp1
 intron_variant MODIFIER c.396+1826delA
c.396+1826delA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8622483
chr1:8622485 TTA
TTA
 T
T
 49 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(46): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0028g0133
a0001c0003t0011g0096
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0097
a0005c0013t0029g0111
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 49 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(46): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG01167.hp1
HG01175.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG02004.hp1
HG02074.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02293.hp1
HG02523.hp2
HG02723.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG03041.hp1
HG03195.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp2
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04228.hp2
NA18906.hp2
NA18944.hp2
NA18964.hp1
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19007.hp2
NA19043.hp1
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.396+1823_396+1824d
others(4): Show 
c.396+1823_396+1824delTA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8622485
chr1:8622485 TTAA
TTAA
 T
T
 2 a0002c0006t0003g0094
a0002c0006t0024g0081
a0002c0006t0003g0094
a0002c0006t0024g0081
 2 NA19005.hp2
NA19074.hp2
NA19005.hp2
NA19074.hp2
 intron_variant MODIFIER c.396+1822_396+1824d
others(5): Show 
c.396+1822_396+1824delTTA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8622485
chr1:8622486 T
T
 A
A
 93 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(90): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0002g0157
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
 93 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(90): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03453.hp1
HG03471.hp1
HG03491.hp2
HG03540.hp2
HG03579.hp1
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.396+1824A>T
c.396+1824A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8622486
chr1:8622486 T
T
 TA
TA
 12 a0001c0001t0001g0033
a0001c0002t0002g0150
a0001c0002t0002g0163
others(9): Show 
a0001c0001t0001g0033
a0001c0002t0002g0150
a0001c0002t0002g0163
a0001c0002t0002g0168
a0001c0002t0002g0174
a0001c0002t0002g0179
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0014t0002g0191
a0001c0024t0002g0182
 12 HG00741.hp1
HG01168.hp1
HG01169.hp1
others(9): Show 
HG00741.hp1
HG01168.hp1
HG01169.hp1
HG01255.hp2
HG01361.hp1
HG01884.hp2
HG01981.hp2
HG02451.hp1
HG02896.hp2
HG03516.hp2
HG04228.hp1
NA18946.hp2
 intron_variant MODIFIER c.396+1823dupT
c.396+1823dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8622486
chr1:8622501 A
A
 C
C
 15 a0001c0001t0003g0122
a0001c0002t0002g0149
a0001c0002t0005g0110
others(12): Show 
a0001c0001t0003g0122
a0001c0002t0002g0149
a0001c0002t0005g0110
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0004t0022g0121
a0005c0013t0029g0111
a0009c0021t0003g0135
 15 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(12): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02602.hp1
HG02723.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03041.hp1
HG03225.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.396+1809T>G
c.396+1809T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8622501
chr1:8622508 A
A
 AAC
AAC
 6 a0001c0003t0004g0017
a0001c0003t0008g0105
a0001c0003t0017g0032
others(3): Show 
a0001c0003t0004g0017
a0001c0003t0008g0105
a0001c0003t0017g0032
a0001c0007t0001g0008
a0001c0009t0004g0016
a0001c0009t0004g0020
 6 HG00140.hp1
HG00741.hp2
HG01168.hp2
others(3): Show 
HG00140.hp1
HG00741.hp2
HG01168.hp2
HG01255.hp1
HG03831.hp1
HG04115.hp2
 intron_variant MODIFIER c.396+1801_396+1802i
others(4): Show 
c.396+1801_396+1802insGT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8622508
chr1:8622510 A
A
 AAC
AAC
 19 a0001c0001t0001g0004
a0001c0001t0001g0040
a0001c0001t0001g0064
others(16): Show 
a0001c0001t0001g0004
a0001c0001t0001g0040
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0036g0194
a0001c0003t0004g0078
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0040g0199
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
 19 HG00597.hp2
HG00609.hp2
HG01433.hp1
others(16): Show 
HG00597.hp2
HG00609.hp2
HG01433.hp1
HG02080.hp1
HG02109.hp1
HG02155.hp1
HG02257.hp2
HG02647.hp1
HG02818.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
NA18985.hp2
NA19009.hp2
NA19074.hp1
 intron_variant MODIFIER c.396+1798_396+1799d
others(4): Show 
c.396+1798_396+1799dupGT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8622510
chr1:8622510 A
A
 AC
AC
 66 a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
others(63): Show 
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0019
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0015g0147
a0001c0004t0001g0003
a0001c0005t0019g0030
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0002c0006t0003g0139
a0002c0026t0008g0140
a0005c0013t0021g0023
a0006c0025t0007g0025
a0007c0020t0039g0197
 66 HG00140.hp2
HG00280.hp1
HG00544.hp2
others(63): Show 
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00639.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02129.hp2
HG02145.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02976.hp1
HG03130.hp2
HG03139.hp1
HG03453.hp1
HG03471.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19070.hp2
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.396+1799_396+1800i
others(3): Show 
c.396+1799_396+1800insG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8622510
chr1:8622510 A
A
 C
C
 10 a0001c0003t0004g0011
a0001c0003t0004g0017
a0001c0003t0008g0105
others(7): Show 
a0001c0003t0004g0011
a0001c0003t0004g0017
a0001c0003t0008g0105
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0017g0032
a0001c0007t0001g0008
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0034
 10 HG00140.hp1
HG00741.hp2
HG01168.hp2
others(7): Show 
HG00140.hp1
HG00741.hp2
HG01168.hp2
HG01255.hp1
HG02622.hp2
HG02965.hp1
HG03831.hp1
HG04115.hp2
NA18946.hp1
NA19043.hp2
 intron_variant MODIFIER c.396+1800T>G
c.396+1800T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8622510
chr1:8622578 T
T
 C
C
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.396+1732A>G
c.396+1732A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8622578
chr1:8622680 A
A
 T
T
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.396+1630T>A
c.396+1630T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8622680
chr1:8622769 A
A
 G
G
 2 a0001c0001t0001g0013
a0001c0001t0003g0141
a0001c0001t0001g0013
a0001c0001t0003g0141
 2 HG01192.hp2
HG02683.hp1
HG01192.hp2
HG02683.hp1
 intron_variant MODIFIER c.396+1541T>C
c.396+1541T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8622769
chr1:8622779 AT
AT
 A
A
 161 a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0033
others(158): Show 
a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0152
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0177
a0001c0002t0002g0179
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0120
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0014t0002g0191
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 161 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(158): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.396+1530delA
c.396+1530delA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8622779
chr1:8622779 ATT
ATT
 A
A
 7 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(4): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0010g0142
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 7 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(4): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
HG03579.hp2
 intron_variant MODIFIER c.396+1529_396+1530d
others(4): Show 
c.396+1529_396+1530delAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8622779
chr1:8622926 T
T
 C
C
 7 a0001c0002t0002g0152
a0001c0002t0002g0157
a0001c0002t0032g0155
others(4): Show 
a0001c0002t0002g0152
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 7 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(4): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03540.hp1
HG03579.hp1
 intron_variant MODIFIER c.396+1384A>G
c.396+1384A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8622926
chr1:8623165 C
C
 T
T
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.396+1145G>A
c.396+1145G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8623165
chr1:8623321 C
C
 T
T
 1 a0001c0001t0001g0074
a0001c0001t0001g0074
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.396+989G>A
c.396+989G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8623321
chr1:8623380 G
G
 T
T
 1 a0005c0013t0021g0023
a0005c0013t0021g0023
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.396+930C>A
c.396+930C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8623380
chr1:8623392 G
G
 T
T
 1 a0001c0001t0001g0066
a0001c0001t0001g0066
 1 HG02027.hp1
HG02027.hp1
 intron_variant MODIFIER c.396+918C>A
c.396+918C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8623392
chr1:8623463 T
T
 C
C
 203 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(200): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0157
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0002t0033g0186
a0001c0002t0035g0160
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0014t0002g0191
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0001c0023t0002g0175
a0001c0024t0002g0182
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 203 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(200): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp1
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.396+847A>G
c.396+847A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8623463
chr1:8623464 G
G
 A
A
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.396+846C>T
c.396+846C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8623464
chr1:8623490 T
T
 C
C
 1 a0001c0003t0004g0021
a0001c0003t0004g0021
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.396+820A>G
c.396+820A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8623490
chr1:8624215 C
C
 T
T
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.396+95G>A
c.396+95G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 3/22 chr1 8624215
chr1:8624428 A
A
 C
C
 1 a0001c0001t0003g0118
a0001c0001t0003g0118
 1 HG02523.hp2
HG02523.hp2
 intron_variant MODIFIER c.326-48T>G
c.326-48T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8624428
chr1:8624604 G
G
 A
A
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.326-224C>T
c.326-224C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8624604
chr1:8624662 C
C
 G
G
 1 a0001c0003t0015g0147
a0001c0003t0015g0147
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.326-282G>C
c.326-282G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8624662
chr1:8624685 G
G
 C
C
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.326-305C>G
c.326-305C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8624685
chr1:8624715 C
C
 T
T
 39 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(36): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0008c0017t0003g0101
a0010c0027t0003g0086
 39 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(36): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02735.hp2
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.326-335G>A
c.326-335G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8624715
chr1:8624791 G
G
 A
A
 3 a0001c0002t0002g0152
a0001c0002t0002g0162
a0001c0002t0002g0179
a0001c0002t0002g0152
a0001c0002t0002g0162
a0001c0002t0002g0179
 3 HG02559.hp2
HG03516.hp2
HG03540.hp1
HG02559.hp2
HG03516.hp2
HG03540.hp1
 intron_variant MODIFIER c.326-411C>T
c.326-411C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8624791
chr1:8624943 C
C
 T
T
 9 a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
others(6): Show 
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0009c0021t0003g0135
 9 HG01175.hp2
HG01884.hp1
HG02109.hp2
others(6): Show 
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03225.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.326-563G>A
c.326-563G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8624943
chr1:8624978 A
A
 C
C
 163 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(160): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0002g0177
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 163 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(160): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.326-598T>G
c.326-598T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8624978
chr1:8625140 GTTTGT
GTTTGT
 G
G
 3 a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
 3 HG02647.hp1
HG03041.hp2
HG03139.hp2
HG02647.hp1
HG03041.hp2
HG03139.hp2
 intron_variant MODIFIER c.326-765_326-761del
others(5): Show 
c.326-765_326-761delACAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8625140
chr1:8625144 GT
GT
 G
G
 3 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0019t0014g0119
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0019t0014g0119
 3 HG02886.hp2
HG03195.hp2
HG03453.hp2
HG02886.hp2
HG03195.hp2
HG03453.hp2
 intron_variant MODIFIER c.326-765delA
c.326-765delA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8625144
chr1:8625145 T
T
 TTTG
TTTG
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.326-766_326-765ins
others(3): Show 
c.326-766_326-765insCAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8625145
chr1:8625232 T
T
 A
A
 15 a0001c0001t0003g0122
a0001c0002t0005g0110
a0001c0002t0005g0128
others(12): Show 
a0001c0001t0003g0122
a0001c0002t0005g0110
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0004t0003g0109
a0001c0004t0010g0120
a0001c0004t0022g0121
a0005c0013t0029g0111
a0009c0021t0003g0135
 15 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(12): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02723.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03041.hp1
HG03225.hp1
HG03471.hp2
NA18906.hp2
NA21309.hp2
 intron_variant MODIFIER c.326-852A>T
c.326-852A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8625232
chr1:8625250 C
C
 T
T
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.326-870G>A
c.326-870G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8625250
chr1:8625461 C
C
 T
T
 161 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(158): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 161 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(158): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.326-1081G>A
c.326-1081G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8625461
chr1:8625717 A
A
 G
G
 9 a0001c0004t0003g0109
a0001c0004t0040g0199
a0001c0005t0009g0200
others(6): Show 
a0001c0004t0003g0109
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 9 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(6): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
NA21309.hp2
 intron_variant MODIFIER c.326-1337T>C
c.326-1337T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8625717
chr1:8625730 G
G
 A
A
 1 a0001c0004t0005g0079
a0001c0004t0005g0079
 1 HG02735.hp2
HG02735.hp2
 intron_variant MODIFIER c.326-1350C>T
c.326-1350C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8625730
chr1:8625792 G
G
 T
T
 1 a0001c0002t0033g0186
a0001c0002t0033g0186
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.326-1412C>A
c.326-1412C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8625792
chr1:8625949 A
A
 G
G
 3 a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
 3 HG02647.hp1
HG03041.hp2
HG03139.hp2
HG02647.hp1
HG03041.hp2
HG03139.hp2
 intron_variant MODIFIER c.326-1569T>C
c.326-1569T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8625949
chr1:8625984 A
A
 T
T
 1 a0001c0002t0002g0158
a0001c0002t0002g0158
 1 HG03654.hp1
HG03654.hp1
 intron_variant MODIFIER c.326-1604T>A
c.326-1604T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8625984
chr1:8626203 C
C
 T
T
 1 a0001c0001t0006g0153
a0001c0001t0006g0153
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.326-1823G>A
c.326-1823G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8626203
chr1:8626213 A
A
 T
T
 1 a0001c0001t0001g0037
a0001c0001t0001g0037
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.326-1833T>A
c.326-1833T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8626213
chr1:8626436 C
C
 T
T
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.326-2056G>A
c.326-2056G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8626436
chr1:8626490 A
A
 C
C
 1 a0001c0004t0003g0109
a0001c0004t0003g0109
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.326-2110T>G
c.326-2110T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8626490
chr1:8626734 T
T
 C
C
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.326-2354A>G
c.326-2354A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8626734
chr1:8626765 C
C
 G
G
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.326-2385G>C
c.326-2385G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8626765
chr1:8626803 G
G
 A
A
 90 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(87): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
 90 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(87): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03453.hp1
HG03471.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.326-2423C>T
c.326-2423C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8626803
chr1:8626995 C
C
 T
T
 4 a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
others(1): Show 
a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0005t0026g0127
 4 HG02559.hp1
HG02965.hp2
HG03579.hp2
others(1): Show 
HG02559.hp1
HG02965.hp2
HG03579.hp2
NA21309.hp1
 intron_variant MODIFIER c.326-2615G>A
c.326-2615G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8626995
chr1:8627248 A
A
 G
G
 2 a0001c0004t0014g0126
a0001c0005t0026g0127
a0001c0004t0014g0126
a0001c0005t0026g0127
 2 HG02965.hp2
NA21309.hp1
HG02965.hp2
NA21309.hp1
 intron_variant MODIFIER c.326-2868T>C
c.326-2868T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8627248
chr1:8627313 G
G
 A
A
 2 a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0153
a0001c0001t0006g0154
 2 HG03225.hp2
NA20300.hp2
HG03225.hp2
NA20300.hp2
 intron_variant MODIFIER c.326-2933C>T
c.326-2933C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8627313
chr1:8627329 T
T
 C
C
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.326-2949A>G
c.326-2949A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8627329
chr1:8627580 T
T
 C
C
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.326-3200A>G
c.326-3200A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8627580
chr1:8627592 T
T
 C
C
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.326-3212A>G
c.326-3212A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8627592
chr1:8627597 C
C
 CA
CA
 95 a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
others(92): Show 
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0002t0002g0150
a0001c0002t0002g0157
a0001c0002t0002g0168
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
 95 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(92): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp1
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03453.hp1
HG03471.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.326-3218dupT
c.326-3218dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8627597
chr1:8627652 G
G
 GTAT
GTAT
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.326-3273_326-3272i
others(5): Show 
c.326-3273_326-3272insATA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8627652
chr1:8627653 C
C
 A
A
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.326-3273G>T
c.326-3273G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8627653
chr1:8627754 A
A
 G
G
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.326-3374T>C
c.326-3374T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8627754
chr1:8627932 A
A
 G
G
 1 a0001c0002t0002g0179
a0001c0002t0002g0179
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.326-3552T>C
c.326-3552T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8627932
chr1:8628044 G
G
 A
A
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.326-3664C>T
c.326-3664C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8628044
chr1:8628455 C
C
 T
T
 1 a0001c0001t0003g0104
a0001c0001t0003g0104
 1 HG00609.hp1
HG00609.hp1
 intron_variant MODIFIER c.326-4075G>A
c.326-4075G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8628455
chr1:8628457 T
T
 C
C
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.326-4077A>G
c.326-4077A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8628457
chr1:8628568 T
T
 C
C
 1 a0001c0005t0026g0127
a0001c0005t0026g0127
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.326-4188A>G
c.326-4188A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8628568
chr1:8628673 A
A
 C
C
 1 a0001c0001t0001g0037
a0001c0001t0001g0037
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.326-4293T>G
c.326-4293T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8628673
chr1:8628695 A
A
 G
G
 4 a0001c0001t0001g0048
a0001c0001t0001g0070
a0001c0001t0001g0076
others(1): Show 
a0001c0001t0001g0048
a0001c0001t0001g0070
a0001c0001t0001g0076
a0001c0001t0001g0077
 4 NA19007.hp1
NA19009.hp1
NA19085.hp2
others(1): Show 
NA19007.hp1
NA19009.hp1
NA19085.hp2
NA19090.hp1
 intron_variant MODIFIER c.326-4315T>C
c.326-4315T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8628695
chr1:8628947 T
T
 C
C
 42 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0038
others(39): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0013g0053
a0001c0003t0004g0068
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0018t0001g0005
 42 HG00140.hp2
HG00280.hp1
HG00597.hp2
others(39): Show 
HG00140.hp2
HG00280.hp1
HG00597.hp2
HG00609.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01261.hp1
HG01433.hp1
HG01496.hp2
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp2
HG02486.hp2
HG02523.hp1
HG02683.hp1
HG03491.hp2
HG03688.hp1
HG03831.hp2
HG04184.hp2
HG04199.hp2
NA18944.hp1
NA18964.hp2
NA18967.hp1
NA18983.hp2
NA18985.hp2
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.326-4567A>G
c.326-4567A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8628947
chr1:8629054 G
G
 C
C
 1 a0001c0001t0023g0113
a0001c0001t0023g0113
 1 HG00544.hp1
HG00544.hp1
 intron_variant MODIFIER c.326-4674C>G
c.326-4674C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8629054
chr1:8629120 G
G
 A
A
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.326-4740C>T
c.326-4740C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8629120
chr1:8629136 A
A
 G
G
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.326-4756T>C
c.326-4756T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8629136
chr1:8629417 G
G
 A
A
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.326-5037C>T
c.326-5037C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8629417
chr1:8629472 G
G
 A
A
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.326-5092C>T
c.326-5092C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8629472
chr1:8629656 C
C
 T
T
 1 a0001c0001t0001g0037
a0001c0001t0001g0037
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.326-5276G>A
c.326-5276G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8629656
chr1:8629709 C
C
 T
T
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.326-5329G>A
c.326-5329G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8629709
chr1:8629795 CA
CA
 C
C
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.326-5416delT
c.326-5416delT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8629795
chr1:8630011 T
T
 C
C
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.326-5631A>G
c.326-5631A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8630011
chr1:8630146 T
T
 TTCCAAGA
others(11): Show 
TTCCAAGACACACAAAGAG
 1 a0001c0001t0001g0069
a0001c0001t0001g0069
 1 NA19000.hp2
NA19000.hp2
 intron_variant MODIFIER c.326-5784_326-5767d
others(20): Show 
c.326-5784_326-5767dupCTCTTTGTGTGTCTTGGA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8630146
chr1:8630210 C
C
 T
T
 1 a0001c0023t0002g0175
a0001c0023t0002g0175
 1 NA18939.hp2
NA18939.hp2
 intron_variant MODIFIER c.326-5830G>A
c.326-5830G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8630210
chr1:8630290 C
C
 T
T
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.326-5910G>A
c.326-5910G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8630290
chr1:8630379 A
A
 G
G
 2 a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0153
a0001c0001t0006g0154
 2 HG03225.hp2
NA20300.hp2
HG03225.hp2
NA20300.hp2
 intron_variant MODIFIER c.326-5999T>C
c.326-5999T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8630379
chr1:8630447 G
G
 A
A
 1 a0001c0003t0015g0147
a0001c0003t0015g0147
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.326-6067C>T
c.326-6067C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8630447
chr1:8630787 A
A
 G
G
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.326-6407T>C
c.326-6407T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8630787
chr1:8630793 C
C
 A
A
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.326-6413G>T
c.326-6413G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8630793
chr1:8630844 C
C
 T
T
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.326-6464G>A
c.326-6464G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8630844
chr1:8630874 G
G
 A
A
 108 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(105): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0002g0157
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0004t0010g0107
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
a0007c0020t0039g0197
 108 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(105): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.326-6494C>T
c.326-6494C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8630874
chr1:8631013 C
C
 T
T
 1 a0001c0004t0003g0109
a0001c0004t0003g0109
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.326-6633G>A
c.326-6633G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8631013
chr1:8631190 T
T
 G
G
 9 a0001c0004t0003g0109
a0001c0004t0040g0199
a0001c0005t0009g0200
others(6): Show 
a0001c0004t0003g0109
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 9 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(6): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
NA21309.hp2
 intron_variant MODIFIER c.326-6810A>C
c.326-6810A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8631190
chr1:8631209 C
C
 T
T
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.326-6829G>A
c.326-6829G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8631209
chr1:8631507 G
G
 A
A
 1 a0001c0002t0005g0116
a0001c0002t0005g0116
 1 HG00639.hp1
HG00639.hp1
 intron_variant MODIFIER c.326-7127C>T
c.326-7127C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8631507
chr1:8631755 C
C
 G
G
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.326-7375G>C
c.326-7375G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8631755
chr1:8631820 T
T
 C
C
 90 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(87): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
 90 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(87): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03453.hp1
HG03471.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.326-7440A>G
c.326-7440A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8631820
chr1:8631998 C
C
 A
A
 1 a0001c0003t0004g0017
a0001c0003t0004g0017
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.326-7618G>T
c.326-7618G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8631998
chr1:8632036 A
A
 C
C
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.326-7656T>G
c.326-7656T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8632036
chr1:8632209 A
A
 T
T
 14 a0001c0001t0003g0122
a0001c0002t0005g0110
a0001c0002t0005g0128
others(11): Show 
a0001c0001t0003g0122
a0001c0002t0005g0110
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0004t0022g0121
a0005c0013t0029g0111
a0009c0021t0003g0135
 14 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(11): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02723.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03041.hp1
HG03225.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.326-7829T>A
c.326-7829T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8632209
chr1:8632274 A
A
 G
G
 1 a0001c0001t0003g0093
a0001c0001t0003g0093
 1 NA18964.hp1
NA18964.hp1
 intron_variant MODIFIER c.326-7894T>C
c.326-7894T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8632274
chr1:8632314 G
G
 C
C
 4 a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
others(1): Show 
a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0005t0026g0127
 4 HG02559.hp1
HG02965.hp2
HG03579.hp2
others(1): Show 
HG02559.hp1
HG02965.hp2
HG03579.hp2
NA21309.hp1
 intron_variant MODIFIER c.326-7934C>G
c.326-7934C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8632314
chr1:8632436 G
G
 A
A
 1 a0001c0003t0004g0021
a0001c0003t0004g0021
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.326-8056C>T
c.326-8056C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8632436
chr1:8632451 T
T
 C
C
 1 a0001c0004t0003g0109
a0001c0004t0003g0109
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.326-8071A>G
c.326-8071A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8632451
chr1:8632464 A
A
 G
G
 15 a0001c0001t0003g0122
a0001c0002t0005g0110
a0001c0002t0005g0128
others(12): Show 
a0001c0001t0003g0122
a0001c0002t0005g0110
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0004t0022g0121
a0001c0016t0020g0001
a0005c0013t0029g0111
a0009c0021t0003g0135
 15 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(12): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02723.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03041.hp1
HG03225.hp1
HG03471.hp2
NA18906.hp2
NA20129.hp2
 intron_variant MODIFIER c.326-8084T>C
c.326-8084T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8632464
chr1:8632481 T
T
 TATCACAG
others(2): Show 
TATCACAGTG
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.326-8102_326-8101i
others(11): Show 
c.326-8102_326-8101insCACTGTGAT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8632481
chr1:8632755 C
C
 T
T
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.326-8375G>A
c.326-8375G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8632755
chr1:8632800 C
C
 G
G
 9 a0001c0004t0003g0109
a0001c0004t0040g0199
a0001c0005t0009g0200
others(6): Show 
a0001c0004t0003g0109
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 9 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(6): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
NA21309.hp2
 intron_variant MODIFIER c.326-8420G>C
c.326-8420G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8632800
chr1:8633264 A
A
 T
T
 1 a0002c0006t0003g0094
a0002c0006t0003g0094
 1 NA19074.hp2
NA19074.hp2
 intron_variant MODIFIER c.326-8884T>A
c.326-8884T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8633264
chr1:8633265 T
T
 A
A
 90 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(87): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
 90 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(87): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03453.hp1
HG03471.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.326-8885A>T
c.326-8885A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8633265
chr1:8633364 AGTGAGCT
others(16): Show 
AGTGAGCTATAATAGCACCACTGC
 A
A
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.326-9007_326-8985d
others(25): Show 
c.326-9007_326-8985delGCAGTGGTGCTATTATAGCTCAC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8633364
chr1:8633446 C
C
 T
T
 3 a0001c0003t0008g0105
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0003t0008g0105
a0001c0009t0004g0016
a0001c0009t0004g0020
 3 HG00741.hp2
HG01168.hp2
HG01255.hp1
HG00741.hp2
HG01168.hp2
HG01255.hp1
 intron_variant MODIFIER c.326-9066G>A
c.326-9066G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8633446
chr1:8633454 G
G
 GAC
GAC
 5 a0001c0001t0001g0050
a0001c0002t0002g0148
a0001c0002t0002g0158
others(2): Show 
a0001c0001t0001g0050
a0001c0002t0002g0148
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0003t0015g0147
 5 HG02280.hp2
HG03654.hp1
HG04184.hp1
others(2): Show 
HG02280.hp2
HG03654.hp1
HG04184.hp1
NA19005.hp1
NA20752.hp1
 intron_variant MODIFIER c.326-9076_326-9075d
others(4): Show 
c.326-9076_326-9075dupGT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8633454
chr1:8633454 GAC
GAC
 G
G
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.326-9076_326-9075d
others(4): Show 
c.326-9076_326-9075delGT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8633454
chr1:8633462 C
C
 G
G
 1 a0001c0002t0002g0169
a0001c0002t0002g0169
 1 HG02132.hp2
HG02132.hp2
 intron_variant MODIFIER c.326-9082G>C
c.326-9082G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8633462
chr1:8633478 A
A
 C
C
 90 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(87): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
 90 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(87): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03453.hp1
HG03471.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.326-9098T>G
c.326-9098T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8633478
chr1:8633650 C
C
 T
T
 4 a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
others(1): Show 
a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0005t0026g0127
 4 HG02559.hp1
HG02965.hp2
HG03579.hp2
others(1): Show 
HG02559.hp1
HG02965.hp2
HG03579.hp2
NA21309.hp1
 intron_variant MODIFIER c.326-9270G>A
c.326-9270G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8633650
chr1:8633915 T
T
 C
C
 1 a0001c0001t0001g0059
a0001c0001t0001g0059
 1 HG01261.hp1
HG01261.hp1
 intron_variant MODIFIER c.326-9535A>G
c.326-9535A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8633915
chr1:8633983 A
A
 T
T
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.326-9603T>A
c.326-9603T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8633983
chr1:8634295 G
G
 A
A
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.326-9915C>T
c.326-9915C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8634295
chr1:8634717 A
A
 C
C
 2 a0001c0004t0014g0126
a0001c0005t0026g0127
a0001c0004t0014g0126
a0001c0005t0026g0127
 2 HG02965.hp2
NA21309.hp1
HG02965.hp2
NA21309.hp1
 intron_variant MODIFIER c.326-10337T>G
c.326-10337T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8634717
chr1:8634753 A
A
 G
G
 1 a0001c0002t0005g0125
a0001c0002t0005g0125
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.326-10373T>C
c.326-10373T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8634753
chr1:8634875 ACAGGTGC
others(1): Show 
ACAGGTGCC
 A
A
 2 a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0188
a0001c0002t0002g0189
 2 HG01168.hp1
HG01169.hp1
HG01168.hp1
HG01169.hp1
 intron_variant MODIFIER c.326-10503_326-1049
others(12): Show 
c.326-10503_326-10496delGGCACCTG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8634875
chr1:8634944 C
C
 T
T
 1 a0001c0022t0008g0082
a0001c0022t0008g0082
 1 HG00280.hp2
HG00280.hp2
 intron_variant MODIFIER c.326-10564G>A
c.326-10564G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8634944
chr1:8634965 G
G
 A
A
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.326-10585C>T
c.326-10585C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8634965
chr1:8635027 G
G
 A
A
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.326-10647C>T
c.326-10647C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8635027
chr1:8635228 G
G
 T
T
 1 a0001c0002t0005g0114
a0001c0002t0005g0114
 1 HG02004.hp1
HG02004.hp1
 intron_variant MODIFIER c.326-10848C>A
c.326-10848C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8635228
chr1:8635256 C
C
 T
T
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.326-10876G>A
c.326-10876G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8635256
chr1:8635336 C
C
 G
G
 41 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0038
others(38): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0038
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0013g0053
a0001c0003t0004g0068
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0018t0001g0005
 41 HG00140.hp2
HG00280.hp1
HG00597.hp2
others(38): Show 
HG00140.hp2
HG00280.hp1
HG00597.hp2
HG00609.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01261.hp1
HG01433.hp1
HG01496.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp2
HG02486.hp2
HG02523.hp1
HG02683.hp1
HG03491.hp2
HG03688.hp1
HG03831.hp2
HG04184.hp2
HG04199.hp2
NA18944.hp1
NA18964.hp2
NA18967.hp1
NA18983.hp2
NA18985.hp2
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.326-10956G>C
c.326-10956G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8635336
chr1:8635463 C
C
 A
A
 161 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(158): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 161 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(158): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.326-11083G>T
c.326-11083G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8635463
chr1:8635484 C
C
 T
T
 1 a0001c0004t0003g0109
a0001c0004t0003g0109
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.326-11104G>A
c.326-11104G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8635484
chr1:8635612 C
C
 T
T
 3 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0019t0014g0119
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0019t0014g0119
 3 HG02886.hp2
HG03195.hp2
HG03453.hp2
HG02886.hp2
HG03195.hp2
HG03453.hp2
 intron_variant MODIFIER c.326-11232G>A
c.326-11232G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8635612
chr1:8635702 C
C
 T
T
 1 a0001c0004t0010g0142
a0001c0004t0010g0142
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.326-11322G>A
c.326-11322G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8635702
chr1:8635832 CG
CG
 C
C
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.326-11453delC
c.326-11453delC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8635832
chr1:8635856 G
G
 A
A
 2 a0001c0001t0001g0074
a0001c0001t0006g0170
a0001c0001t0001g0074
a0001c0001t0006g0170
 2 HG02698.hp2
HG02976.hp1
HG02698.hp2
HG02976.hp1
 intron_variant MODIFIER c.326-11476C>T
c.326-11476C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8635856
chr1:8635928 T
T
 C
C
 1 a0001c0002t0005g0125
a0001c0002t0005g0125
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.326-11548A>G
c.326-11548A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8635928
chr1:8635937 ATTATT
ATTATT
 A
A
 23 a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0043
others(20): Show 
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0043
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0066
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0006g0184
a0001c0004t0001g0003
a0001c0016t0020g0001
a0001c0018t0001g0005
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
 23 HG02027.hp1
HG02074.hp2
HG02129.hp2
others(20): Show 
HG02027.hp1
HG02074.hp2
HG02129.hp2
HG02165.hp2
HG02523.hp1
HG02647.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03139.hp2
HG03688.hp1
HG04184.hp2
HG04199.hp2
NA18906.hp1
NA18944.hp1
NA18967.hp1
NA18983.hp2
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
 intron_variant MODIFIER c.326-11562_326-1155
others(9): Show 
c.326-11562_326-11558delAATAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8635937
chr1:8635939 TATTTTAT
others(6): Show 
TATTTTATTTTATC
 T
T
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.326-11572_326-1156
others(17): Show 
c.326-11572_326-11560delGATAAAATAAAAT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8635939
chr1:8635939 TATTTTAT
others(16): Show 
TATTTTATTTTATCTTATCTTATC
 T
T
 3 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0019t0014g0119
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0019t0014g0119
 3 HG02886.hp2
HG03195.hp2
HG03453.hp2
HG02886.hp2
HG03195.hp2
HG03453.hp2
 intron_variant MODIFIER c.326-11582_326-1156
others(27): Show 
c.326-11582_326-11560delGATAAGATAAGATAAAATAAAAT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8635939
chr1:8635942 TTTATTTT
others(3): Show 
TTTATTTTATC
 T
T
 38 a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0039
others(35): Show 
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0065
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0017
a0001c0003t0004g0021
a0001c0003t0004g0068
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0017g0032
a0001c0004t0005g0123
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0015t0001g0009
a0002c0006t0003g0139
a0002c0026t0008g0140
a0004c0012t0008g0137
a0004c0012t0008g0138
 38 HG00140.hp1
HG00140.hp2
HG00741.hp2
others(35): Show 
HG00140.hp1
HG00140.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01361.hp2
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02080.hp1
HG02155.hp1
HG02258.hp1
HG02258.hp2
HG02486.hp2
HG02602.hp2
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02896.hp1
HG02976.hp2
HG03195.hp1
HG03453.hp1
HG03491.hp2
HG03831.hp1
HG04115.hp2
HG06807.hp2
NA18964.hp2
NA19002.hp1
NA19005.hp1
NA19043.hp2
NA19070.hp2
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.326-11572_326-1156
others(14): Show 
c.326-11572_326-11563delGATAAAATAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8635942
chr1:8635942 TTTATTTT
others(8): Show 
TTTATTTTATCTTATC
 T
T
 20 a0001c0001t0001g0058
a0001c0001t0001g0067
a0001c0001t0036g0194
others(17): Show 
a0001c0001t0001g0058
a0001c0001t0001g0067
a0001c0001t0036g0194
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0019
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0015g0147
a0001c0010t0007g0026
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0006c0025t0007g0025
 20 HG00280.hp1
HG00544.hp2
HG00639.hp2
others(17): Show 
HG00280.hp1
HG00544.hp2
HG00639.hp2
HG01358.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02647.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG03540.hp2
HG03654.hp2
HG03831.hp2
NA18939.hp1
NA18946.hp1
NA18973.hp1
NA18985.hp2
NA18993.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.326-11577_326-1156
others(19): Show 
c.326-11577_326-11563delGATAAGATAAAATAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8635942
chr1:8635942 TTTATTTT
others(13): Show 
TTTATTTTATCTTATCTTATC
 T
T
 4 a0001c0003t0004g0078
a0001c0005t0019g0030
a0001c0010t0007g0034
others(1): Show 
a0001c0003t0004g0078
a0001c0005t0019g0030
a0001c0010t0007g0034
a0005c0013t0021g0023
 4 HG02965.hp1
HG03130.hp2
HG03471.hp1
others(1): Show 
HG02965.hp1
HG03130.hp2
HG03471.hp1
NA19009.hp2
 intron_variant MODIFIER c.326-11582_326-1156
others(24): Show 
c.326-11582_326-11563delGATAAGATAAGATAAAATAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8635942
chr1:8635947 T
T
 C
C
 5 a0001c0001t0001g0004
a0001c0001t0001g0064
a0001c0001t0001g0073
others(2): Show 
a0001c0001t0001g0004
a0001c0001t0001g0064
a0001c0001t0001g0073
a0001c0004t0001g0049
a0001c0004t0003g0092
 5 HG00597.hp2
HG00609.hp2
HG01433.hp1
others(2): Show 
HG00597.hp2
HG00609.hp2
HG01433.hp1
HG03139.hp1
NA19074.hp1
 intron_variant MODIFIER c.326-11567A>G
c.326-11567A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8635947
chr1:8635947 T
T
 TTTATCTT
others(3): Show 
TTTATCTTATC
 3 a0001c0002t0002g0150
a0001c0002t0002g0177
a0001c0005t0026g0127
a0001c0002t0002g0150
a0001c0002t0002g0177
a0001c0005t0026g0127
 3 HG01981.hp2
HG03209.hp2
NA21309.hp1
HG01981.hp2
HG03209.hp2
NA21309.hp1
 intron_variant MODIFIER c.326-11577_326-1156
others(14): Show 
c.326-11577_326-11568dupGATAAGATAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8635947
chr1:8635947 TTTATC
TTTATC
 T
T
 9 a0001c0002t0002g0148
a0001c0002t0002g0168
a0001c0002t0002g0169
others(6): Show 
a0001c0002t0002g0148
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0005g0136
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
 9 HG00741.hp1
HG02109.hp1
HG02132.hp2
others(6): Show 
HG00741.hp1
HG02109.hp1
HG02132.hp2
HG02257.hp2
HG02818.hp1
HG02886.hp1
HG03209.hp1
HG03516.hp1
HG04184.hp1
 intron_variant MODIFIER c.326-11572_326-1156
others(9): Show 
c.326-11572_326-11568delGATAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8635947
chr1:8635957 C
C
 T
T
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.326-11577G>A
c.326-11577G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8635957
chr1:8635962 C
C
 T
T
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.326-11582G>A
c.326-11582G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8635962
chr1:8635967 C
C
 T
T
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.326-11587G>A
c.326-11587G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8635967
chr1:8635972 C
C
 CTTATT
CTTATT
 30 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(27): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0016g0054
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0022t0008g0082
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0005c0013t0029g0111
 30 HG00280.hp2
HG00597.hp1
HG00609.hp1
others(27): Show 
HG00280.hp2
HG00597.hp1
HG00609.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02735.hp2
HG03041.hp1
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
 intron_variant MODIFIER c.326-11593_326-1159
others(9): Show 
c.326-11593_326-11592insAATAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8635972
chr1:8635972 C
C
 CTTATTTT
others(3): Show 
CTTATTTTATT
 1 a0001c0001t0023g0113
a0001c0001t0023g0113
 1 HG00544.hp1
HG00544.hp1
 intron_variant MODIFIER c.326-11593_326-1159
others(14): Show 
c.326-11593_326-11592insAATAAAATAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8635972
chr1:8635972 C
C
 T
T
 7 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(4): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
a0008c0017t0003g0101
 7 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(4): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
NA20905.hp2
 intron_variant MODIFIER c.326-11592G>A
c.326-11592G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8635972
chr1:8635972 CTTATCTT
others(3): Show 
CTTATCTTATT
 C
C
 1 a0001c0001t0001g0033
a0001c0001t0001g0033
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.326-11602_326-1159
others(14): Show 
c.326-11602_326-11593delAATAAGATAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8635972
chr1:8635977 C
C
 CTTATCTT
others(8): Show 
CTTATCTTATCTTATT
 1 a0001c0004t0014g0126
a0001c0004t0014g0126
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.326-11598_326-1159
others(19): Show 
c.326-11598_326-11597insAATAAGATAAGATAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8635977
chr1:8635977 C
C
 CTTATCTT
others(3): Show 
CTTATCTTATT
 2 a0001c0002t0018g0002
a0002c0006t0003g0089
a0001c0002t0018g0002
a0002c0006t0003g0089
 2 HG02132.hp1
HG02559.hp1
HG02132.hp1
HG02559.hp1
 intron_variant MODIFIER c.326-11598_326-1159
others(14): Show 
c.326-11598_326-11597insAATAAGATAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8635977
chr1:8635977 C
C
 CTTATCTT
others(8): Show 
CTTATCTTATTTTATT
 1 a0001c0007t0003g0099
a0001c0007t0003g0099
 1 NA20752.hp2
NA20752.hp2
 intron_variant MODIFIER c.326-11598_326-1159
others(19): Show 
c.326-11598_326-11597insAATAAAATAAGATAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8635977
chr1:8635977 C
C
 CTTATT
CTTATT
 2 a0001c0004t0003g0109
a0001c0004t0010g0142
a0001c0004t0003g0109
a0001c0004t0010g0142
 2 HG03579.hp2
NA21309.hp2
HG03579.hp2
NA21309.hp2
 intron_variant MODIFIER c.326-11602_326-1159
others(9): Show 
c.326-11602_326-11598dupAATAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8635977
chr1:8635977 C
C
 CTTATTTT
others(3): Show 
CTTATTTTATT
 2 a0001c0001t0003g0100
a0001c0002t0005g0116
a0001c0001t0003g0100
a0001c0002t0005g0116
 2 HG00639.hp1
NA19007.hp2
HG00639.hp1
NA19007.hp2
 intron_variant MODIFIER c.326-11607_326-1159
others(14): Show 
c.326-11607_326-11598dupAATAAAATAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8635977
chr1:8635977 C
C
 T
T
 60 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(57): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0002g0158
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0034g0156
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0005c0013t0029g0111
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 60 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(57): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG01167.hp1
HG01175.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02293.hp1
HG02523.hp2
HG02622.hp1
HG02723.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG03041.hp1
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp2
HG03471.hp2
HG03491.hp1
HG03516.hp1
HG03579.hp1
HG03654.hp1
HG03669.hp1
HG03688.hp2
HG04228.hp2
NA18906.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20905.hp2
 intron_variant MODIFIER c.326-11597G>A
c.326-11597G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8635977
chr1:8635977 CTTATT
CTTATT
 C
C
 4 a0001c0002t0002g0163
a0001c0004t0040g0199
a0001c0009t0041g0198
others(1): Show 
a0001c0002t0002g0163
a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
 4 HG02145.hp1
HG02451.hp1
HG02970.hp2
others(1): Show 
HG02145.hp1
HG02451.hp1
HG02970.hp2
HG06807.hp1
 intron_variant MODIFIER c.326-11602_326-1159
others(9): Show 
c.326-11602_326-11598delAATAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8635977
chr1:8635977 CTTATTTT
others(3): Show 
CTTATTTTATT
 C
C
 1 a0001c0001t0001g0073
a0001c0001t0001g0073
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.326-11607_326-1159
others(14): Show 
c.326-11607_326-11598delAATAAAATAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8635977
chr1:8635982 T
T
 C
C
 92 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(89): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0002g0152
a0001c0002t0002g0162
a0001c0002t0002g0179
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
 92 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(89): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02559.hp2
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03453.hp1
HG03471.hp1
HG03491.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.326-11602A>G
c.326-11602A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8635982
chr1:8635987 T
T
 C
C
 1 a0001c0001t0001g0043
a0001c0001t0001g0043
 1 HG02074.hp2
HG02074.hp2
 intron_variant MODIFIER c.326-11607A>G
c.326-11607A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8635987
chr1:8636051 C
C
 T
T
 1 a0001c0005t0019g0030
a0001c0005t0019g0030
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.326-11671G>A
c.326-11671G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8636051
chr1:8636186 C
C
 T
T
 1 a0008c0017t0003g0101
a0008c0017t0003g0101
 1 NA20905.hp2
NA20905.hp2
 intron_variant MODIFIER c.326-11806G>A
c.326-11806G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8636186
chr1:8636268 G
G
 A
A
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.326-11888C>T
c.326-11888C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8636268
chr1:8636314 AT
AT
 A
A
 104 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(101): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0002g0157
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
a0007c0020t0039g0197
 104 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(101): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.326-11935delA
c.326-11935delA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8636314
chr1:8636674 T
T
 C
C
 4 a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
others(1): Show 
a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0005t0026g0127
 4 HG02559.hp1
HG02965.hp2
HG03579.hp2
others(1): Show 
HG02559.hp1
HG02965.hp2
HG03579.hp2
NA21309.hp1
 intron_variant MODIFIER c.326-12294A>G
c.326-12294A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8636674
chr1:8636831 A
A
 G
G
 1 a0001c0016t0020g0001
a0001c0016t0020g0001
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.326-12451T>C
c.326-12451T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8636831
chr1:8636850 C
C
 T
T
 4 a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
others(1): Show 
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0031g0144
 4 HG00597.hp1
HG02523.hp2
NA18973.hp2
others(1): Show 
HG00597.hp1
HG02523.hp2
NA18973.hp2
NA18993.hp2
 intron_variant MODIFIER c.326-12470G>A
c.326-12470G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8636850
chr1:8636979 C
C
 CA
CA
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.326-12600_326-1259
others(5): Show 
c.326-12600_326-12599insT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8636979
chr1:8637014 A
A
 G
G
 1 a0001c0001t0001g0004
a0001c0001t0001g0004
 1 NA19074.hp1
NA19074.hp1
 intron_variant MODIFIER c.326-12634T>C
c.326-12634T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8637014
chr1:8637135 T
T
 A
A
 1 a0001c0004t0010g0120
a0001c0004t0010g0120
 1 HG01167.hp1
HG01167.hp1
 intron_variant MODIFIER c.326-12755A>T
c.326-12755A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8637135
chr1:8637306 C
C
 T
T
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.326-12926G>A
c.326-12926G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8637306
chr1:8637465 G
G
 A
A
 1 a0001c0004t0014g0126
a0001c0004t0014g0126
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.326-13085C>T
c.326-13085C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8637465
chr1:8637521 T
T
 C
C
 1 a0001c0002t0002g0192
a0001c0002t0002g0192
 1 HG01175.hp1
HG01175.hp1
 intron_variant MODIFIER c.326-13141A>G
c.326-13141A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8637521
chr1:8637627 C
C
 T
T
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.326-13247G>A
c.326-13247G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8637627
chr1:8637663 C
C
 T
T
 3 a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
 3 HG02145.hp1
HG02970.hp2
HG06807.hp1
HG02145.hp1
HG02970.hp2
HG06807.hp1
 intron_variant MODIFIER c.326-13283G>A
c.326-13283G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8637663
chr1:8637826 C
C
 T
T
 1 a0001c0002t0002g0187
a0001c0002t0002g0187
 1 HG04228.hp1
HG04228.hp1
 intron_variant MODIFIER c.326-13446G>A
c.326-13446G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8637826
chr1:8637895 A
A
 G
G
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.326-13515T>C
c.326-13515T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8637895
chr1:8637960 G
G
 A
A
 1 a0008c0017t0003g0101
a0008c0017t0003g0101
 1 NA20905.hp2
NA20905.hp2
 intron_variant MODIFIER c.326-13580C>T
c.326-13580C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8637960
chr1:8637998 A
A
 T
T
 1 a0001c0002t0002g0193
a0001c0002t0002g0193
 1 HG01358.hp1
HG01358.hp1
 intron_variant MODIFIER c.326-13618T>A
c.326-13618T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8637998
chr1:8638021 C
C
 A
A
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.326-13641G>T
c.326-13641G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8638021
chr1:8638042 A
A
 G
G
 2 a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0153
a0001c0001t0006g0154
 2 HG03225.hp2
NA20300.hp2
HG03225.hp2
NA20300.hp2
 intron_variant MODIFIER c.326-13662T>C
c.326-13662T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8638042
chr1:8638218 C
C
 T
T
 90 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(87): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
 90 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(87): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03453.hp1
HG03471.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.326-13838G>A
c.326-13838G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8638218
chr1:8638488 CA
CA
 C
C
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.326-14109delT
c.326-14109delT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8638488
chr1:8638551 G
G
 C
C
 163 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(160): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0002g0180
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 163 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(160): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.326-14171C>G
c.326-14171C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8638551
chr1:8638576 T
T
 C
C
 1 a0001c0003t0004g0007
a0001c0003t0004g0007
 1 HG03654.hp2
HG03654.hp2
 intron_variant MODIFIER c.326-14196A>G
c.326-14196A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8638576
chr1:8638780 A
A
 T
T
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.326-14400T>A
c.326-14400T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8638780
chr1:8638781 A
A
 T
T
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.326-14401T>A
c.326-14401T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8638781
chr1:8638782 A
A
 T
T
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.326-14402T>A
c.326-14402T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8638782
chr1:8638783 A
A
 AT
AT
 8 a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0162
others(5): Show 
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0162
a0001c0002t0002g0168
a0001c0002t0002g0173
a0001c0004t0006g0146
a0001c0024t0002g0182
a0008c0017t0003g0101
 8 HG00741.hp1
HG02559.hp2
HG02602.hp1
others(5): Show 
HG00741.hp1
HG02559.hp2
HG02602.hp1
HG02896.hp2
HG04184.hp1
HG04199.hp1
NA19043.hp1
NA20905.hp2
 intron_variant MODIFIER c.326-14404dupA
c.326-14404dupA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8638783
chr1:8638783 A
A
 T
T
 5 a0001c0001t0001g0033
a0001c0002t0002g0163
a0001c0002t0006g0145
others(2): Show 
a0001c0001t0001g0033
a0001c0002t0002g0163
a0001c0002t0006g0145
a0001c0004t0010g0107
a0001c0004t0027g0106
 5 HG01884.hp2
HG02451.hp1
HG02886.hp2
others(2): Show 
HG01884.hp2
HG02451.hp1
HG02886.hp2
HG03453.hp2
HG03491.hp1
 intron_variant MODIFIER c.326-14403T>A
c.326-14403T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8638783
chr1:8638783 AT
AT
 A
A
 18 a0001c0001t0016g0054
a0001c0002t0002g0165
a0001c0002t0002g0172
others(15): Show 
a0001c0001t0016g0054
a0001c0002t0002g0165
a0001c0002t0002g0172
a0001c0002t0002g0176
a0001c0002t0005g0110
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0004t0003g0109
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
a0009c0021t0003g0135
 18 HG01175.hp2
HG01517.hp1
HG02109.hp1
others(15): Show 
HG01175.hp2
HG01517.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02293.hp1
HG02723.hp1
HG02809.hp1
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03471.hp2
HG03516.hp1
HG06807.hp1
NA18967.hp2
NA19085.hp1
NA21309.hp2
 intron_variant MODIFIER c.326-14404delA
c.326-14404delA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8638783
chr1:8638783 ATT
ATT
 A
A
 11 a0001c0001t0001g0066
a0001c0001t0001g0075
a0001c0001t0003g0122
others(8): Show 
a0001c0001t0001g0066
a0001c0001t0001g0075
a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0004t0022g0121
a0005c0013t0029g0111
 11 HG01167.hp1
HG01884.hp1
HG02027.hp1
others(8): Show 
HG01167.hp1
HG01884.hp1
HG02027.hp1
HG02145.hp2
HG02257.hp1
HG02818.hp2
HG02886.hp1
HG03041.hp1
HG03225.hp1
NA18906.hp2
NA18967.hp1
 intron_variant MODIFIER c.326-14405_326-1440
others(6): Show 
c.326-14405_326-14404delAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8638783
chr1:8638783 ATTT
ATTT
 A
A
 46 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(43): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0003t0004g0068
a0001c0003t0011g0108
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0005t0026g0127
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0018t0001g0005
 46 HG00140.hp2
HG00280.hp1
HG00597.hp2
others(43): Show 
HG00140.hp2
HG00280.hp1
HG00597.hp2
HG00609.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01261.hp1
HG01433.hp1
HG01496.hp2
HG02004.hp2
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02683.hp1
HG03139.hp1
HG03453.hp1
HG03491.hp2
HG03688.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18944.hp1
NA18964.hp2
NA18983.hp2
NA18985.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp1
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.326-14406_326-1440
others(7): Show 
c.326-14406_326-14404delAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8638783
chr1:8638783 ATTTT
ATTTT
 A
A
 43 a0001c0001t0001g0037
a0001c0001t0001g0074
a0001c0003t0004g0007
others(40): Show 
a0001c0001t0001g0037
a0001c0001t0001g0074
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0004t0005g0123
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
 43 HG00140.hp1
HG00544.hp2
HG00639.hp2
others(40): Show 
HG00140.hp1
HG00544.hp2
HG00639.hp2
HG00741.hp2
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG01358.hp2
HG01361.hp2
HG01981.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03471.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp2
HG03831.hp1
NA18906.hp1
NA18939.hp1
NA18946.hp1
NA18973.hp1
NA18993.hp1
NA19009.hp2
NA19043.hp2
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.326-14407_326-1440
others(8): Show 
c.326-14407_326-14404delAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8638783
chr1:8638783 ATTTTTTT
others(3): Show 
ATTTTTTTTTT
 A
A
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.326-14413_326-1440
others(14): Show 
c.326-14413_326-14404delAAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8638783
chr1:8638783 ATTTTTTT
others(6): Show 
ATTTTTTTTTTTTT
 A
A
 1 a0001c0002t0002g0151
a0001c0002t0002g0151
 1 HG01261.hp2
HG01261.hp2
 intron_variant MODIFIER c.326-14416_326-1440
others(17): Show 
c.326-14416_326-14404delAAAAAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8638783
chr1:8638784 T
T
 A
A
 1 a0001c0002t0005g0114
a0001c0002t0005g0114
 1 HG02004.hp1
HG02004.hp1
 intron_variant MODIFIER c.326-14404A>T
c.326-14404A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8638784
chr1:8638787 T
T
 A
A
 3 a0001c0001t0001g0062
a0001c0002t0018g0002
a0001c0005t0026g0127
a0001c0001t0001g0062
a0001c0002t0018g0002
a0001c0005t0026g0127
 3 HG01496.hp2
HG02559.hp1
NA21309.hp1
HG01496.hp2
HG02559.hp1
NA21309.hp1
 intron_variant MODIFIER c.326-14407A>T
c.326-14407A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8638787
chr1:8638788 T
T
 A
A
 3 a0001c0004t0010g0142
a0001c0004t0014g0126
a0002c0026t0008g0140
a0001c0004t0010g0142
a0001c0004t0014g0126
a0002c0026t0008g0140
 3 HG01981.hp1
HG02965.hp2
HG03579.hp2
HG01981.hp1
HG02965.hp2
HG03579.hp2
 intron_variant MODIFIER c.326-14408A>T
c.326-14408A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8638788
chr1:8638874 T
T
 C
C
 4 a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
others(1): Show 
a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0005t0026g0127
 4 HG02559.hp1
HG02965.hp2
HG03579.hp2
others(1): Show 
HG02559.hp1
HG02965.hp2
HG03579.hp2
NA21309.hp1
 intron_variant MODIFIER c.326-14494A>G
c.326-14494A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8638874
chr1:8638931 G
G
 A
A
 2 a0001c0001t0001g0013
a0001c0001t0003g0141
a0001c0001t0001g0013
a0001c0001t0003g0141
 2 HG01192.hp2
HG02683.hp1
HG01192.hp2
HG02683.hp1
 intron_variant MODIFIER c.326-14551C>T
c.326-14551C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8638931
chr1:8638955 A
A
 T
T
 1 a0005c0013t0029g0111
a0005c0013t0029g0111
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.326-14575T>A
c.326-14575T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8638955
chr1:8638988 T
T
 C
C
 90 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(87): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
 90 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(87): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03453.hp1
HG03471.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.326-14608A>G
c.326-14608A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8638988
chr1:8639020 A
A
 G
G
 162 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(159): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 162 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(159): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.326-14640T>C
c.326-14640T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8639020
chr1:8639081 T
T
 C
C
 9 a0001c0004t0003g0109
a0001c0004t0040g0199
a0001c0005t0009g0200
others(6): Show 
a0001c0004t0003g0109
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 9 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(6): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
NA21309.hp2
 intron_variant MODIFIER c.326-14701A>G
c.326-14701A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8639081
chr1:8639133 A
A
 C
C
 1 a0001c0001t0001g0039
a0001c0001t0001g0039
 1 HG02004.hp2
HG02004.hp2
 intron_variant MODIFIER c.326-14753T>G
c.326-14753T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8639133
chr1:8639204 A
A
 AT
AT
 4 a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
others(1): Show 
a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0005t0026g0127
 4 HG02559.hp1
HG02965.hp2
HG03579.hp2
others(1): Show 
HG02559.hp1
HG02965.hp2
HG03579.hp2
NA21309.hp1
 intron_variant MODIFIER c.326-14825_326-1482
others(5): Show 
c.326-14825_326-14824insA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8639204
chr1:8639326 A
A
 G
G
 1 a0001c0001t0001g0039
a0001c0001t0001g0039
 1 HG02004.hp2
HG02004.hp2
 intron_variant MODIFIER c.326-14946T>C
c.326-14946T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8639326
chr1:8639410 T
T
 G
G
 1 a0001c0003t0004g0035
a0001c0003t0004g0035
 1 HG00639.hp2
HG00639.hp2
 intron_variant MODIFIER c.326-15030A>C
c.326-15030A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8639410
chr1:8639623 G
G
 A
A
 161 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(158): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 161 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(158): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.326-15243C>T
c.326-15243C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8639623
chr1:8639751 A
A
 C
C
 3 a0001c0002t0002g0165
a0001c0002t0002g0176
a0001c0023t0002g0175
a0001c0002t0002g0165
a0001c0002t0002g0176
a0001c0023t0002g0175
 3 NA18939.hp2
NA18967.hp2
NA19085.hp1
NA18939.hp2
NA18967.hp2
NA19085.hp1
 intron_variant MODIFIER c.326-15371T>G
c.326-15371T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8639751
chr1:8639889 T
T
 G
G
 1 a0001c0001t0001g0040
a0001c0001t0001g0040
 1 HG02155.hp1
HG02155.hp1
 intron_variant MODIFIER c.326-15509A>C
c.326-15509A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8639889
chr1:8640029 T
T
 C
C
 1 a0001c0002t0002g0158
a0001c0002t0002g0158
 1 HG03654.hp1
HG03654.hp1
 intron_variant MODIFIER c.326-15649A>G
c.326-15649A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8640029
chr1:8640156 G
G
 GA
GA
 90 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(87): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
 90 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(87): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03453.hp1
HG03471.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.326-15777dupT
c.326-15777dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8640156
chr1:8640183 T
T
 C
C
 4 a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
others(1): Show 
a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0005t0026g0127
 4 HG02559.hp1
HG02965.hp2
HG03579.hp2
others(1): Show 
HG02559.hp1
HG02965.hp2
HG03579.hp2
NA21309.hp1
 intron_variant MODIFIER c.325+15790A>G
c.325+15790A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8640183
chr1:8640210 T
T
 C
C
 4 a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
others(1): Show 
a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0005t0026g0127
 4 HG02559.hp1
HG02965.hp2
HG03579.hp2
others(1): Show 
HG02559.hp1
HG02965.hp2
HG03579.hp2
NA21309.hp1
 intron_variant MODIFIER c.325+15763A>G
c.325+15763A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8640210
chr1:8640266 C
C
 T
T
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.325+15707G>A
c.325+15707G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8640266
chr1:8640388 C
C
 T
T
 1 a0001c0001t0001g0074
a0001c0001t0001g0074
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.325+15585G>A
c.325+15585G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8640388
chr1:8640471 A
A
 G
G
 1 a0001c0004t0014g0126
a0001c0004t0014g0126
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.325+15502T>C
c.325+15502T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8640471
chr1:8640780 T
T
 C
C
 1 a0001c0004t0010g0142
a0001c0004t0010g0142
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.325+15193A>G
c.325+15193A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8640780
chr1:8640823 C
C
 T
T
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.325+15150G>A
c.325+15150G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8640823
chr1:8640828 T
T
 C
C
 12 a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
others(9): Show 
a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0004t0022g0121
a0009c0021t0003g0135
 12 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(9): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03225.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.325+15145A>G
c.325+15145A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8640828
chr1:8640908 A
A
 G
G
 5 a0001c0001t0001g0074
a0003c0008t0001g0006
a0003c0008t0001g0031
others(2): Show 
a0001c0001t0001g0074
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
 5 HG02647.hp1
HG02970.hp1
HG02976.hp1
others(2): Show 
HG02647.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03139.hp2
 intron_variant MODIFIER c.325+15065T>C
c.325+15065T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8640908
chr1:8640936 A
A
 G
G
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.325+15037T>C
c.325+15037T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8640936
chr1:8641172 A
A
 G
G
 90 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(87): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
 90 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(87): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03453.hp1
HG03471.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.325+14801T>C
c.325+14801T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8641172
chr1:8641229 C
C
 T
T
 28 a0001c0001t0001g0015
a0001c0003t0004g0007
a0001c0003t0004g0010
others(25): Show 
a0001c0001t0001g0015
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0005g0123
a0001c0007t0001g0008
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0015t0001g0009
a0002c0006t0003g0139
a0002c0026t0008g0140
a0004c0012t0008g0137
a0004c0012t0008g0138
 28 HG00140.hp1
HG00544.hp2
HG00639.hp2
others(25): Show 
HG00140.hp1
HG00544.hp2
HG00639.hp2
HG00741.hp2
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG01358.hp2
HG01361.hp2
HG01981.hp1
HG02258.hp1
HG02280.hp2
HG02602.hp2
HG02622.hp2
HG02698.hp1
HG02896.hp1
HG02976.hp2
HG03195.hp1
HG03654.hp2
HG03831.hp1
HG04115.hp2
NA18939.hp1
NA18946.hp1
NA18973.hp1
NA18993.hp1
NA19009.hp2
NA19043.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.325+14744G>A
c.325+14744G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8641229
chr1:8641395 G
G
 A
A
 1 a0001c0004t0006g0146
a0001c0004t0006g0146
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.325+14578C>T
c.325+14578C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8641395
chr1:8641647 C
C
 G
G
 1 a0001c0002t0005g0114
a0001c0002t0005g0114
 1 HG02004.hp1
HG02004.hp1
 intron_variant MODIFIER c.325+14326G>C
c.325+14326G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8641647
chr1:8641693 T
T
 G
G
 9 a0001c0004t0003g0109
a0001c0004t0040g0199
a0001c0005t0009g0200
others(6): Show 
a0001c0004t0003g0109
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 9 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(6): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
NA21309.hp2
 intron_variant MODIFIER c.325+14280A>C
c.325+14280A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8641693
chr1:8642035 G
G
 A
A
 9 a0001c0005t0019g0030
a0001c0010t0007g0026
a0001c0010t0007g0034
others(6): Show 
a0001c0005t0019g0030
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0005c0013t0021g0023
a0006c0025t0007g0025
 9 HG02280.hp1
HG02451.hp2
HG02647.hp2
others(6): Show 
HG02280.hp1
HG02451.hp2
HG02647.hp2
HG02723.hp2
HG02809.hp2
HG02965.hp1
HG03130.hp2
HG03471.hp1
HG03540.hp2
 intron_variant MODIFIER c.325+13938C>T
c.325+13938C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8642035
chr1:8642091 T
T
 A
A
 12 a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
others(9): Show 
a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0004t0022g0121
a0009c0021t0003g0135
 12 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(9): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03225.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.325+13882A>T
c.325+13882A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8642091
chr1:8642328 G
G
 A
A
 2 a0002c0006t0003g0139
a0002c0026t0008g0140
a0002c0006t0003g0139
a0002c0026t0008g0140
 2 HG01361.hp2
HG01981.hp1
HG01361.hp2
HG01981.hp1
 intron_variant MODIFIER c.325+13645C>T
c.325+13645C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8642328
chr1:8642471 C
C
 T
T
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.325+13502G>A
c.325+13502G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8642471
chr1:8642694 G
G
 A
A
 104 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(101): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0002g0157
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
a0007c0020t0039g0197
 104 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(101): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.325+13279C>T
c.325+13279C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8642694
chr1:8642838 G
G
 A
A
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.325+13135C>T
c.325+13135C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8642838
chr1:8642842 A
A
 G
G
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.325+13131T>C
c.325+13131T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8642842
chr1:8642895 A
A
 C
C
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.325+13078T>G
c.325+13078T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8642895
chr1:8642995 T
T
 C
C
 4 a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
others(1): Show 
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
 4 HG02647.hp1
HG02970.hp1
HG03041.hp2
others(1): Show 
HG02647.hp1
HG02970.hp1
HG03041.hp2
HG03139.hp2
 intron_variant MODIFIER c.325+12978A>G
c.325+12978A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8642995
chr1:8643169 T
T
 C
C
 1 a0005c0013t0029g0111
a0005c0013t0029g0111
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.325+12804A>G
c.325+12804A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8643169
chr1:8643365 C
C
 T
T
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.325+12608G>A
c.325+12608G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8643365
chr1:8643694 C
C
 A
A
 4 a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
others(1): Show 
a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0005t0026g0127
 4 HG02559.hp1
HG02965.hp2
HG03579.hp2
others(1): Show 
HG02559.hp1
HG02965.hp2
HG03579.hp2
NA21309.hp1
 intron_variant MODIFIER c.325+12279G>T
c.325+12279G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8643694
chr1:8644000 G
G
 C
C
 108 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(105): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0002g0157
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0004t0010g0107
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
a0007c0020t0039g0197
 108 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(105): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.325+11973C>G
c.325+11973C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8644000
chr1:8644511 C
C
 T
T
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.325+11462G>A
c.325+11462G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8644511
chr1:8644599 T
T
 A
A
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.325+11374A>T
c.325+11374A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8644599
chr1:8644800 A
A
 G
G
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.325+11173T>C
c.325+11173T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8644800
chr1:8644920 T
T
 G
G
 1 a0001c0002t0002g0159
a0001c0002t0002g0159
 1 NA20752.hp1
NA20752.hp1
 intron_variant MODIFIER c.325+11053A>C
c.325+11053A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8644920
chr1:8644926 C
C
 A
A
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.325+11047G>T
c.325+11047G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8644926
chr1:8644978 G
G
 A
A
 90 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(87): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
 90 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(87): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03453.hp1
HG03471.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.325+10995C>T
c.325+10995C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8644978
chr1:8644989 GCTTTAAC
others(94): Show 
GCTTTAACCAGTTCTCACAGGCCCATACCATTTTACAAACCAGCTGTGTG
ACTTTGGCCTCCATGTCTTTGTTTCCTCATCTGTACAGCAGGGAAACAAT
GT
 G
G
 1 a0001c0004t0010g0107
a0001c0004t0010g0107
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.325+10883_325+1098
others(4): Show 
c.325+10883_325+10983del
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8644989
chr1:8645093 A
A
 G
G
 1 a0001c0004t0010g0107
a0001c0004t0010g0107
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.325+10880T>C
c.325+10880T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8645093
chr1:8645095 G
G
 T
T
 1 a0001c0004t0010g0107
a0001c0004t0010g0107
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.325+10878C>A
c.325+10878C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8645095
chr1:8645101 T
T
 A
A
 1 a0001c0004t0010g0107
a0001c0004t0010g0107
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.325+10872A>T
c.325+10872A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8645101
chr1:8645105 A
A
 T
T
 1 a0001c0004t0010g0107
a0001c0004t0010g0107
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.325+10868T>A
c.325+10868T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8645105
chr1:8645108 T
T
 C
C
 1 a0001c0004t0010g0107
a0001c0004t0010g0107
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.325+10865A>G
c.325+10865A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8645108
chr1:8645109 T
T
 C
C
 1 a0001c0004t0010g0107
a0001c0004t0010g0107
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.325+10864A>G
c.325+10864A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8645109
chr1:8645111 C
C
 G
G
 1 a0001c0004t0010g0107
a0001c0004t0010g0107
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.325+10862G>C
c.325+10862G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8645111
chr1:8645113 A
A
 G
G
 1 a0001c0004t0010g0107
a0001c0004t0010g0107
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.325+10860T>C
c.325+10860T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8645113
chr1:8645116 G
G
 A
A
 1 a0001c0004t0010g0107
a0001c0004t0010g0107
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.325+10857C>T
c.325+10857C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8645116
chr1:8645120 A
A
 G
G
 1 a0001c0004t0010g0107
a0001c0004t0010g0107
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.325+10853T>C
c.325+10853T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8645120
chr1:8645128 C
C
 A
A
 1 a0001c0004t0010g0107
a0001c0004t0010g0107
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.325+10845G>T
c.325+10845G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8645128
chr1:8645130 C
C
 G
G
 1 a0001c0004t0010g0107
a0001c0004t0010g0107
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.325+10843G>C
c.325+10843G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8645130
chr1:8645131 A
A
 C
C
 1 a0001c0004t0010g0107
a0001c0004t0010g0107
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.325+10842T>G
c.325+10842T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8645131
chr1:8645133 T
T
 A
A
 1 a0001c0004t0010g0107
a0001c0004t0010g0107
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.325+10840A>T
c.325+10840A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8645133
chr1:8645134 C
C
 A
A
 1 a0001c0004t0010g0107
a0001c0004t0010g0107
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.325+10839G>T
c.325+10839G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8645134
chr1:8645135 A
A
 G
G
 1 a0001c0004t0010g0107
a0001c0004t0010g0107
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.325+10838T>C
c.325+10838T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8645135
chr1:8645138 G
G
 T
T
 1 a0001c0004t0010g0107
a0001c0004t0010g0107
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.325+10835C>A
c.325+10835C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8645138
chr1:8645139 C
C
 G
G
 1 a0001c0004t0010g0107
a0001c0004t0010g0107
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.325+10834G>C
c.325+10834G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8645139
chr1:8645141 A
A
 G
G
 1 a0001c0004t0010g0107
a0001c0004t0010g0107
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.325+10832T>C
c.325+10832T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8645141
chr1:8645144 C
C
 A
A
 1 a0001c0004t0010g0107
a0001c0004t0010g0107
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.325+10829G>T
c.325+10829G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8645144
chr1:8645145 C
C
 G
G
 1 a0001c0004t0010g0107
a0001c0004t0010g0107
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.325+10828G>C
c.325+10828G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8645145
chr1:8645147 G
G
 C
C
 1 a0001c0004t0010g0107
a0001c0004t0010g0107
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.325+10826C>G
c.325+10826C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8645147
chr1:8645149 A
A
 G
G
 1 a0001c0004t0010g0107
a0001c0004t0010g0107
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.325+10824T>C
c.325+10824T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8645149
chr1:8645150 G
G
 A
A
 1 a0001c0004t0010g0107
a0001c0004t0010g0107
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.325+10823C>T
c.325+10823C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8645150
chr1:8645151 A
A
 T
T
 1 a0001c0004t0010g0107
a0001c0004t0010g0107
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.325+10822T>A
c.325+10822T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8645151
chr1:8645153 A
A
 T
T
 1 a0001c0004t0010g0107
a0001c0004t0010g0107
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.325+10820T>A
c.325+10820T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8645153
chr1:8645154 G
G
 A
A
 1 a0001c0004t0010g0107
a0001c0004t0010g0107
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.325+10819C>T
c.325+10819C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8645154
chr1:8645167 A
A
 C
C
 2 a0001c0002t0005g0110
a0005c0013t0029g0111
a0001c0002t0005g0110
a0005c0013t0029g0111
 2 HG02723.hp1
HG03041.hp1
HG02723.hp1
HG03041.hp1
 intron_variant MODIFIER c.325+10806T>G
c.325+10806T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8645167
chr1:8645503 T
T
 TA
TA
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.325+10469_325+1047
others(5): Show 
c.325+10469_325+10470insT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8645503
chr1:8645504 G
G
 A
A
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.325+10469C>T
c.325+10469C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8645504
chr1:8645818 T
T
 G
G
 4 a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
others(1): Show 
a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0005t0026g0127
 4 HG02559.hp1
HG02965.hp2
HG03579.hp2
others(1): Show 
HG02559.hp1
HG02965.hp2
HG03579.hp2
NA21309.hp1
 intron_variant MODIFIER c.325+10155A>C
c.325+10155A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8645818
chr1:8646055 ACTCAAAT
others(39): Show 
ACTCAAATGTGAAACACCTGAACCTGAGTCTACCTAACAACAAAGCT
 A
A
 161 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(158): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 161 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(158): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.325+9872_325+9917d
others(48): Show 
c.325+9872_325+9917delAGCTTTGTTGTTAGGTAGACTCAGGTTC
AGGTGTTTCACATTTGAG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8646055
chr1:8646401 G
G
 T
T
 3 a0001c0001t0016g0054
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0001t0016g0054
a0001c0001t0037g0196
a0001c0001t0038g0195
 3 HG01515.hp1
HG01517.hp2
HG02293.hp1
HG01515.hp1
HG01517.hp2
HG02293.hp1
 intron_variant MODIFIER c.325+9572C>A
c.325+9572C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8646401
chr1:8646544 A
A
 C
C
 25 a0001c0001t0003g0122
a0001c0002t0002g0152
a0001c0002t0002g0157
others(22): Show 
a0001c0001t0003g0122
a0001c0002t0002g0152
a0001c0002t0002g0157
a0001c0002t0002g0162
a0001c0002t0002g0179
a0001c0002t0005g0110
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0004t0003g0109
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0022g0121
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
a0003c0008t0001g0071
a0005c0013t0029g0111
a0009c0021t0003g0135
 25 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(22): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02559.hp2
HG02622.hp1
HG02723.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03195.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp2
HG03516.hp2
HG03540.hp1
HG03579.hp1
NA18906.hp2
NA21309.hp2
 intron_variant MODIFIER c.325+9429T>G
c.325+9429T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8646544
chr1:8646556 C
C
 A
A
 2 a0001c0002t0002g0151
a0001c0002t0005g0125
a0001c0002t0002g0151
a0001c0002t0005g0125
 2 HG01261.hp2
HG03453.hp1
HG01261.hp2
HG03453.hp1
 intron_variant MODIFIER c.325+9417G>T
c.325+9417G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8646556
chr1:8646605 A
A
 G
G
 1 a0001c0004t0014g0126
a0001c0004t0014g0126
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.325+9368T>C
c.325+9368T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8646605
chr1:8646705 T
T
 C
C
 1 a0001c0003t0008g0085
a0001c0003t0008g0085
 1 HG01934.hp1
HG01934.hp1
 intron_variant MODIFIER c.325+9268A>G
c.325+9268A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8646705
chr1:8646727 A
A
 C
C
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.325+9246T>G
c.325+9246T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8646727
chr1:8646772 A
A
 G
G
 4 a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
others(1): Show 
a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0005t0026g0127
 4 HG02559.hp1
HG02965.hp2
HG03579.hp2
others(1): Show 
HG02559.hp1
HG02965.hp2
HG03579.hp2
NA21309.hp1
 intron_variant MODIFIER c.325+9201T>C
c.325+9201T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8646772
chr1:8646984 A
A
 G
G
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.325+8989T>C
c.325+8989T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8646984
chr1:8647041 A
A
 G
G
 170 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(167): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0152
a0001c0002t0002g0157
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0177
a0001c0002t0002g0179
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 170 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(167): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.325+8932T>C
c.325+8932T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8647041
chr1:8647057 T
T
 G
G
 105 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(102): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0002g0157
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0123
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
a0007c0020t0039g0197
 105 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(102): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.325+8916A>C
c.325+8916A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8647057
chr1:8647308 A
A
 G
G
 1 a0001c0002t0002g0151
a0001c0002t0002g0151
 1 HG01261.hp2
HG01261.hp2
 intron_variant MODIFIER c.325+8665T>C
c.325+8665T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8647308
chr1:8647425 GA
GA
 G
G
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.325+8547delT
c.325+8547delT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8647425
chr1:8647445 G
G
 A
A
 1 a0001c0004t0010g0107
a0001c0004t0010g0107
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.325+8528C>T
c.325+8528C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8647445
chr1:8647637 A
A
 ATGTGTGT
others(3): Show 
ATGTGTGTGTG
 1 a0001c0002t0002g0157
a0001c0002t0002g0157
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.325+8335_325+8336i
others(12): Show 
c.325+8335_325+8336insCACACACACA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8647637
chr1:8647637 A
A
 ATGTGTGT
others(5): Show 
ATGTGTGTGTGTG
 1 a0001c0005t0034g0156
a0001c0005t0034g0156
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.325+8335_325+8336i
others(14): Show 
c.325+8335_325+8336insCACACACACACA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8647637
chr1:8647641 A
A
 ATATG
ATATG
 31 a0001c0001t0001g0015
a0001c0001t0001g0074
a0001c0003t0004g0007
others(28): Show 
a0001c0001t0001g0015
a0001c0001t0001g0074
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0036
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0017g0032
a0001c0004t0005g0123
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0015t0001g0009
a0001c0016t0020g0001
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
 31 HG00140.hp1
HG00544.hp2
HG00741.hp2
others(28): Show 
HG00140.hp1
HG00544.hp2
HG00741.hp2
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG01358.hp2
HG02258.hp1
HG02451.hp2
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02896.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03139.hp2
HG03195.hp1
HG03654.hp2
HG04115.hp2
HG06807.hp2
NA18946.hp1
NA18973.hp1
NA19009.hp2
NA19043.hp2
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.325+8331_325+8332i
others(6): Show 
c.325+8331_325+8332insCATA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8647641
chr1:8647641 A
A
 ATATGTG
ATATGTG
 9 a0001c0003t0004g0035
a0001c0003t0015g0147
a0001c0005t0019g0030
others(6): Show 
a0001c0003t0004g0035
a0001c0003t0015g0147
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0010t0007g0034
a0001c0011t0007g0029
a0002c0006t0003g0139
a0002c0026t0008g0140
a0005c0013t0021g0023
 9 HG00639.hp2
HG01361.hp2
HG01981.hp1
others(6): Show 
HG00639.hp2
HG01361.hp2
HG01981.hp1
HG02280.hp1
HG02280.hp2
HG02965.hp1
HG03130.hp2
HG03471.hp1
HG03831.hp1
 intron_variant MODIFIER c.325+8331_325+8332i
others(8): Show 
c.325+8331_325+8332insCACATA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8647641
chr1:8647641 A
A
 ATATGTGT
others(1): Show 
ATATGTGTG
 6 a0001c0001t0001g0063
a0001c0002t0005g0125
a0001c0003t0004g0041
others(3): Show 
a0001c0001t0001g0063
a0001c0002t0005g0125
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0010t0013g0024
a0006c0025t0007g0025
 6 HG00140.hp2
HG02809.hp2
HG03453.hp1
others(3): Show 
HG00140.hp2
HG02809.hp2
HG03453.hp1
HG03540.hp2
NA18939.hp1
NA18993.hp1
 intron_variant MODIFIER c.325+8331_325+8332i
others(10): Show 
c.325+8331_325+8332insCACACATA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8647641
chr1:8647641 A
A
 ATATGTGT
others(3): Show 
ATATGTGTGTG
 29 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0038
others(26): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0070
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0002t0013g0053
a0001c0003t0004g0068
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0007t0004g0047
a0001c0010t0007g0026
a0001c0018t0001g0005
 29 HG00280.hp1
HG00597.hp2
HG00609.hp2
others(26): Show 
HG00280.hp1
HG00597.hp2
HG00609.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01433.hp1
HG01496.hp2
HG02004.hp2
HG02027.hp1
HG02129.hp2
HG02155.hp1
HG02258.hp2
HG02486.hp2
HG02523.hp1
HG02647.hp2
HG03491.hp2
HG03688.hp1
HG03831.hp2
HG04199.hp2
NA18983.hp2
NA19002.hp1
NA19007.hp1
NA19009.hp1
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.325+8331_325+8332i
others(12): Show 
c.325+8331_325+8332insCACACACATA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8647641
chr1:8647641 A
A
 ATATGTGT
others(5): Show 
ATATGTGTGTGTG
 9 a0001c0001t0001g0043
a0001c0001t0001g0059
a0001c0001t0001g0065
others(6): Show 
a0001c0001t0001g0043
a0001c0001t0001g0059
a0001c0001t0001g0065
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0075
a0001c0001t0006g0184
a0001c0004t0001g0003
a0001c0007t0004g0044
 9 HG01261.hp1
HG02074.hp2
HG02080.hp1
others(6): Show 
HG01261.hp1
HG02074.hp2
HG02080.hp1
HG03139.hp1
HG04184.hp2
NA18944.hp1
NA18964.hp2
NA18967.hp1
NA19000.hp2
 intron_variant MODIFIER c.325+8331_325+8332i
others(14): Show 
c.325+8331_325+8332insCACACACACATA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8647641
chr1:8647641 A
A
 ATATGTGT
others(7): Show 
ATATGTGTGTGTGTG
 5 a0001c0001t0001g0046
a0001c0001t0001g0050
a0001c0001t0001g0076
others(2): Show 
a0001c0001t0001g0046
a0001c0001t0001g0050
a0001c0001t0001g0076
a0001c0001t0003g0141
a0001c0001t0036g0194
 5 HG02165.hp2
HG02683.hp1
NA18985.hp2
others(2): Show 
HG02165.hp2
HG02683.hp1
NA18985.hp2
NA19005.hp1
NA19090.hp1
 intron_variant MODIFIER c.325+8331_325+8332i
others(16): Show 
c.325+8331_325+8332insCACACACACACATA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8647641
chr1:8647641 A
A
 ATG
ATG
 15 a0001c0002t0002g0150
a0001c0002t0005g0110
a0001c0002t0005g0128
others(12): Show 
a0001c0002t0002g0150
a0001c0002t0005g0110
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0025g0080
a0009c0021t0003g0135
 15 HG01175.hp2
HG01433.hp2
HG01884.hp1
others(12): Show 
HG01175.hp2
HG01433.hp2
HG01884.hp1
HG01981.hp2
HG02109.hp2
HG02723.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03225.hp1
HG03471.hp2
HG04228.hp2
NA18906.hp2
NA21309.hp2
 intron_variant MODIFIER c.325+8330_325+8331d
others(4): Show 
c.325+8330_325+8331dupCA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8647641
chr1:8647641 A
A
 ATGTG
ATGTG
 2 a0001c0002t0002g0166
a0001c0002t0002g0169
a0001c0002t0002g0166
a0001c0002t0002g0169
 2 HG02132.hp2
NA19070.hp1
HG02132.hp2
NA19070.hp1
 intron_variant MODIFIER c.325+8328_325+8331d
others(6): Show 
c.325+8328_325+8331dupCACA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8647641
chr1:8647641 A
A
 ATGTGTG
ATGTGTG
 2 a0001c0004t0010g0120
a0001c0004t0022g0121
a0001c0004t0010g0120
a0001c0004t0022g0121
 2 HG01167.hp1
HG02257.hp1
HG01167.hp1
HG02257.hp1
 intron_variant MODIFIER c.325+8326_325+8331d
others(8): Show 
c.325+8326_325+8331dupCACACA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8647641
chr1:8647641 A
A
 G
G
 5 a0001c0002t0002g0157
a0001c0004t0010g0107
a0001c0004t0027g0106
others(2): Show 
a0001c0002t0002g0157
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 5 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(2): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
 intron_variant MODIFIER c.325+8332T>C
c.325+8332T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8647641
chr1:8647641 ATG
ATG
 A
A
 34 a0001c0001t0001g0037
a0001c0001t0003g0087
a0001c0001t0003g0088
others(31): Show 
a0001c0001t0001g0037
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0006g0146
a0001c0004t0014g0126
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0008c0017t0003g0101
a0010c0027t0003g0086
 34 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(31): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02965.hp2
HG03491.hp1
HG03669.hp1
NA18906.hp1
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp1
NA19074.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.325+8330_325+8331d
others(4): Show 
c.325+8330_325+8331delCA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8647641
chr1:8647641 ATGTG
ATGTG
 A
A
 2 a0001c0004t0010g0142
a0007c0020t0039g0197
a0001c0004t0010g0142
a0007c0020t0039g0197
 2 HG03579.hp2
HG06807.hp1
HG03579.hp2
HG06807.hp1
 intron_variant MODIFIER c.325+8328_325+8331d
others(6): Show 
c.325+8328_325+8331delCACA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8647641
chr1:8647641 ATGTGTG
ATGTGTG
 A
A
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0026g0127
a0001c0009t0041g0198
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
NA21309.hp1
 intron_variant MODIFIER c.325+8326_325+8331d
others(8): Show 
c.325+8326_325+8331delCACACA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8647641
chr1:8647645 G
G
 A
A
 1 a0001c0001t0001g0037
a0001c0001t0001g0037
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.325+8328C>T
c.325+8328C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8647645
chr1:8647679 C
C
 G
G
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.325+8294G>C
c.325+8294G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8647679
chr1:8647929 T
T
 C
C
 4 a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
others(1): Show 
a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0005t0026g0127
 4 HG02559.hp1
HG02965.hp2
HG03579.hp2
others(1): Show 
HG02559.hp1
HG02965.hp2
HG03579.hp2
NA21309.hp1
 intron_variant MODIFIER c.325+8044A>G
c.325+8044A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8647929
chr1:8647954 C
C
 A
A
 5 a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0019
others(2): Show 
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0019
a0001c0003t0004g0041
a0001c0003t0004g0042
 5 HG00544.hp2
NA18939.hp1
NA18946.hp1
others(2): Show 
HG00544.hp2
NA18939.hp1
NA18946.hp1
NA18973.hp1
NA18993.hp1
 intron_variant MODIFIER c.325+8019G>T
c.325+8019G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8647954
chr1:8648027 C
C
 T
T
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.325+7946G>A
c.325+7946G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8648027
chr1:8648063 G
G
 A
A
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.325+7910C>T
c.325+7910C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8648063
chr1:8648281 C
C
 G
G
 161 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(158): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 161 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(158): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.325+7692G>C
c.325+7692G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8648281
chr1:8648291 G
G
 A
A
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.325+7682C>T
c.325+7682C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8648291
chr1:8648310 C
C
 A
A
 1 a0001c0001t0001g0064
a0001c0001t0001g0064
 1 HG00597.hp2
HG00597.hp2
 intron_variant MODIFIER c.325+7663G>T
c.325+7663G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8648310
chr1:8648317 A
A
 G
G
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.325+7656T>C
c.325+7656T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8648317
chr1:8648329 T
T
 C
C
 2 a0001c0001t0001g0033
a0001c0002t0002g0163
a0001c0001t0001g0033
a0001c0002t0002g0163
 2 HG01884.hp2
HG02451.hp1
HG01884.hp2
HG02451.hp1
 intron_variant MODIFIER c.325+7644A>G
c.325+7644A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8648329
chr1:8648403 T
T
 C
C
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.325+7570A>G
c.325+7570A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8648403
chr1:8648428 C
C
 T
T
 5 a0001c0001t0001g0074
a0003c0008t0001g0006
a0003c0008t0001g0031
others(2): Show 
a0001c0001t0001g0074
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
 5 HG02647.hp1
HG02970.hp1
HG02976.hp1
others(2): Show 
HG02647.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03139.hp2
 intron_variant MODIFIER c.325+7545G>A
c.325+7545G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8648428
chr1:8648429 G
G
 A
A
 1 a0001c0002t0002g0169
a0001c0002t0002g0169
 1 HG02132.hp2
HG02132.hp2
 intron_variant MODIFIER c.325+7544C>T
c.325+7544C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8648429
chr1:8648470 T
T
 C
C
 108 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(105): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0002g0157
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0004t0010g0107
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
a0007c0020t0039g0197
 108 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(105): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.325+7503A>G
c.325+7503A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8648470
chr1:8648512 G
G
 A
A
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.325+7461C>T
c.325+7461C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8648512
chr1:8648568 G
G
 A
A
 1 a0001c0004t0022g0121
a0001c0004t0022g0121
 1 HG02257.hp1
HG02257.hp1
 intron_variant MODIFIER c.325+7405C>T
c.325+7405C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8648568
chr1:8648704 C
C
 A
A
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.325+7269G>T
c.325+7269G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8648704
chr1:8648722 T
T
 G
G
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.325+7251A>C
c.325+7251A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8648722
chr1:8648817 T
T
 C
C
 42 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0038
others(39): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0013g0053
a0001c0003t0004g0068
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0018t0001g0005
 42 HG00140.hp2
HG00280.hp1
HG00597.hp2
others(39): Show 
HG00140.hp2
HG00280.hp1
HG00597.hp2
HG00609.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01261.hp1
HG01433.hp1
HG01496.hp2
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp2
HG02486.hp2
HG02523.hp1
HG02683.hp1
HG03491.hp2
HG03688.hp1
HG03831.hp2
HG04184.hp2
HG04199.hp2
NA18944.hp1
NA18964.hp2
NA18967.hp1
NA18983.hp2
NA18985.hp2
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.325+7156A>G
c.325+7156A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8648817
chr1:8648866 A
A
 G
G
 42 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0038
others(39): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0013g0053
a0001c0003t0004g0068
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0018t0001g0005
 42 HG00140.hp2
HG00280.hp1
HG00597.hp2
others(39): Show 
HG00140.hp2
HG00280.hp1
HG00597.hp2
HG00609.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01261.hp1
HG01433.hp1
HG01496.hp2
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp2
HG02486.hp2
HG02523.hp1
HG02683.hp1
HG03491.hp2
HG03688.hp1
HG03831.hp2
HG04184.hp2
HG04199.hp2
NA18944.hp1
NA18964.hp2
NA18967.hp1
NA18983.hp2
NA18985.hp2
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.325+7107T>C
c.325+7107T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8648866
chr1:8648971 T
T
 TA
TA
 90 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(87): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
 90 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(87): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03453.hp1
HG03471.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.325+7001dupT
c.325+7001dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8648971
chr1:8648971 TA
TA
 T
T
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.325+7001delT
c.325+7001delT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8648971
chr1:8649187 C
C
 A
A
 1 a0001c0001t0003g0087
a0001c0001t0003g0087
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.325+6786G>T
c.325+6786G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8649187
chr1:8649189 G
G
 A
A
 1 a0001c0001t0006g0184
a0001c0001t0006g0184
 1 NA18944.hp1
NA18944.hp1
 intron_variant MODIFIER c.325+6784C>T
c.325+6784C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8649189
chr1:8649203 A
A
 C
C
 1 a0001c0018t0001g0005
a0001c0018t0001g0005
 1 HG03688.hp1
HG03688.hp1
 intron_variant MODIFIER c.325+6770T>G
c.325+6770T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8649203
chr1:8649302 TA
TA
 T
T
 161 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(158): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 161 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(158): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.325+6670delT
c.325+6670delT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8649302
chr1:8649347 A
A
 T
T
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.325+6626T>A
c.325+6626T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8649347
chr1:8649420 C
C
 A
A
 1 a0001c0001t0037g0196
a0001c0001t0037g0196
 1 HG01517.hp2
HG01517.hp2
 intron_variant MODIFIER c.325+6553G>T
c.325+6553G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8649420
chr1:8649603 G
G
 A
A
 1 a0001c0004t0010g0142
a0001c0004t0010g0142
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.325+6370C>T
c.325+6370C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8649603
chr1:8649700 A
A
 T
T
 1 a0001c0001t0001g0039
a0001c0001t0001g0039
 1 HG02004.hp2
HG02004.hp2
 intron_variant MODIFIER c.325+6273T>A
c.325+6273T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8649700
chr1:8649729 C
C
 CA
CA
 6 a0001c0001t0016g0054
a0001c0001t0037g0196
a0001c0001t0038g0195
others(3): Show 
a0001c0001t0016g0054
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0004t0014g0126
a0001c0005t0026g0127
a0001c0018t0001g0005
 6 HG01515.hp1
HG01517.hp2
HG02293.hp1
others(3): Show 
HG01515.hp1
HG01517.hp2
HG02293.hp1
HG02965.hp2
HG03688.hp1
NA21309.hp1
 intron_variant MODIFIER c.325+6243dupT
c.325+6243dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8649729
chr1:8649729 CA
CA
 C
C
 6 a0001c0001t0001g0015
a0001c0001t0006g0153
a0001c0001t0006g0154
others(3): Show 
a0001c0001t0001g0015
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0030g0143
a0001c0002t0018g0002
a0001c0004t0005g0123
 6 HG02155.hp2
HG02258.hp1
HG02559.hp1
others(3): Show 
HG02155.hp2
HG02258.hp1
HG02559.hp1
HG02602.hp2
HG03225.hp2
NA20300.hp2
 intron_variant MODIFIER c.325+6243delT
c.325+6243delT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8649729
chr1:8649729 CAA
CAA
 C
C
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.325+6242_325+6243d
others(4): Show 
c.325+6242_325+6243delTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8649729
chr1:8649747 T
T
 A
A
 1 a0001c0001t0006g0170
a0001c0001t0006g0170
 1 HG02698.hp2
HG02698.hp2
 intron_variant MODIFIER c.325+6226A>T
c.325+6226A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8649747
chr1:8649786 T
T
 C
C
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.325+6187A>G
c.325+6187A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8649786
chr1:8649822 G
G
 A
A
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.325+6151C>T
c.325+6151C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8649822
chr1:8649948 T
T
 G
G
 3 a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0003t0004g0068
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0003t0004g0068
 3 HG00280.hp1
HG01261.hp1
HG02258.hp2
HG00280.hp1
HG01261.hp1
HG02258.hp2
 intron_variant MODIFIER c.325+6025A>C
c.325+6025A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8649948
chr1:8650056 C
C
 A
A
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.325+5917G>T
c.325+5917G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8650056
chr1:8650061 G
G
 A
A
 1 a0001c0001t0031g0144
a0001c0001t0031g0144
 1 NA18993.hp2
NA18993.hp2
 intron_variant MODIFIER c.325+5912C>T
c.325+5912C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8650061
chr1:8650068 T
T
 C
C
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.325+5905A>G
c.325+5905A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8650068
chr1:8650079 A
A
 C
C
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.325+5894T>G
c.325+5894T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8650079
chr1:8650096 T
T
 C
C
 1 a0001c0001t0001g0037
a0001c0001t0001g0037
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.325+5877A>G
c.325+5877A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8650096
chr1:8650123 G
G
 C
C
 1 a0001c0018t0001g0005
a0001c0018t0001g0005
 1 HG03688.hp1
HG03688.hp1
 intron_variant MODIFIER c.325+5850C>G
c.325+5850C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8650123
chr1:8650231 A
A
 T
T
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.325+5742T>A
c.325+5742T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8650231
chr1:8650670 G
G
 A
A
 4 a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
others(1): Show 
a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0005t0026g0127
 4 HG02559.hp1
HG02965.hp2
HG03579.hp2
others(1): Show 
HG02559.hp1
HG02965.hp2
HG03579.hp2
NA21309.hp1
 intron_variant MODIFIER c.325+5303C>T
c.325+5303C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8650670
chr1:8650721 A
A
 G
G
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.325+5252T>C
c.325+5252T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8650721
chr1:8650769 C
C
 T
T
 2 a0001c0004t0014g0126
a0001c0005t0026g0127
a0001c0004t0014g0126
a0001c0005t0026g0127
 2 HG02965.hp2
NA21309.hp1
HG02965.hp2
NA21309.hp1
 intron_variant MODIFIER c.325+5204G>A
c.325+5204G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8650769
chr1:8650777 A
A
 G
G
 162 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(159): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 162 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(159): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.325+5196T>C
c.325+5196T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8650777
chr1:8650812 G
G
 A
A
 4 a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
others(1): Show 
a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0005t0026g0127
 4 HG02559.hp1
HG02965.hp2
HG03579.hp2
others(1): Show 
HG02559.hp1
HG02965.hp2
HG03579.hp2
NA21309.hp1
 intron_variant MODIFIER c.325+5161C>T
c.325+5161C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8650812
chr1:8650846 G
G
 A
A
 1 a0001c0009t0041g0198
a0001c0009t0041g0198
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.325+5127C>T
c.325+5127C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8650846
chr1:8650895 C
C
 CA
CA
 90 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(87): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
 90 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(87): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03453.hp1
HG03471.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.325+5077dupT
c.325+5077dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8650895
chr1:8650921 T
T
 TTAAA
TTAAA
 7 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(4): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0014t0002g0191
a0001c0019t0014g0119
 7 HG01361.hp1
HG02622.hp1
HG02886.hp2
others(4): Show 
HG01361.hp1
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.325+5048_325+5051d
others(6): Show 
c.325+5048_325+5051dupTTTA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8650921
chr1:8650964 C
C
 T
T
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.325+5009G>A
c.325+5009G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8650964
chr1:8650988 T
T
 G
G
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.325+4985A>C
c.325+4985A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8650988
chr1:8651090 C
C
 T
T
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.325+4883G>A
c.325+4883G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8651090
chr1:8651138 A
A
 C
C
 1 a0001c0001t0003g0104
a0001c0001t0003g0104
 1 HG00609.hp1
HG00609.hp1
 intron_variant MODIFIER c.325+4835T>G
c.325+4835T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8651138
chr1:8651313 G
G
 A
A
 37 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(34): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0008c0017t0003g0101
a0010c0027t0003g0086
 37 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(34): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02735.hp2
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.325+4660C>T
c.325+4660C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8651313
chr1:8651345 G
G
 C
C
 3 a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0016t0020g0001
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0016t0020g0001
 3 HG02683.hp2
HG06807.hp2
NA20129.hp2
HG02683.hp2
HG06807.hp2
NA20129.hp2
 intron_variant MODIFIER c.325+4628C>G
c.325+4628C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8651345
chr1:8651389 G
G
 A
A
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.325+4584C>T
c.325+4584C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8651389
chr1:8651598 G
G
 T
T
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.325+4375C>A
c.325+4375C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8651598
chr1:8651631 C
C
 A
A
 1 a0001c0004t0010g0142
a0001c0004t0010g0142
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.325+4342G>T
c.325+4342G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8651631
chr1:8651671 A
A
 G
G
 1 a0001c0018t0001g0005
a0001c0018t0001g0005
 1 HG03688.hp1
HG03688.hp1
 intron_variant MODIFIER c.325+4302T>C
c.325+4302T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8651671
chr1:8651726 GA
GA
 G
G
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.325+4246delT
c.325+4246delT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8651726
chr1:8651877 T
T
 C
C
 1 a0001c0004t0010g0142
a0001c0004t0010g0142
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.325+4096A>G
c.325+4096A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8651877
chr1:8652379 T
T
 C
C
 1 a0001c0004t0003g0109
a0001c0004t0003g0109
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.325+3594A>G
c.325+3594A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8652379
chr1:8652474 T
T
 C
C
 4 a0001c0001t0001g0004
a0001c0001t0001g0064
a0001c0004t0001g0049
others(1): Show 
a0001c0001t0001g0004
a0001c0001t0001g0064
a0001c0004t0001g0049
a0001c0004t0003g0092
 4 HG00597.hp2
HG00609.hp2
HG01433.hp1
others(1): Show 
HG00597.hp2
HG00609.hp2
HG01433.hp1
NA19074.hp1
 intron_variant MODIFIER c.325+3499A>G
c.325+3499A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8652474
chr1:8652564 T
T
 G
G
 1 a0002c0006t0024g0081
a0002c0006t0024g0081
 1 NA19005.hp2
NA19005.hp2
 intron_variant MODIFIER c.325+3409A>C
c.325+3409A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8652564
chr1:8652623 A
A
 G
G
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.325+3350T>C
c.325+3350T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8652623
chr1:8652666 C
C
 T
T
 1 a0001c0005t0026g0127
a0001c0005t0026g0127
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.325+3307G>A
c.325+3307G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8652666
chr1:8652684 T
T
 G
G
 104 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(101): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0002g0157
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0123
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
a0007c0020t0039g0197
 104 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(101): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.325+3289A>C
c.325+3289A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8652684
chr1:8653192 C
C
 T
T
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.325+2781G>A
c.325+2781G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8653192
chr1:8653553 G
G
 C
C
 1 a0001c0001t0001g0033
a0001c0001t0001g0033
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.325+2420C>G
c.325+2420C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8653553
chr1:8653563 T
T
 C
C
 1 a0001c0018t0001g0005
a0001c0018t0001g0005
 1 HG03688.hp1
HG03688.hp1
 intron_variant MODIFIER c.325+2410A>G
c.325+2410A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8653563
chr1:8653625 G
G
 A
A
 4 a0001c0001t0001g0048
a0001c0001t0001g0070
a0001c0001t0001g0076
others(1): Show 
a0001c0001t0001g0048
a0001c0001t0001g0070
a0001c0001t0001g0076
a0001c0001t0001g0077
 4 NA19007.hp1
NA19009.hp1
NA19085.hp2
others(1): Show 
NA19007.hp1
NA19009.hp1
NA19085.hp2
NA19090.hp1
 intron_variant MODIFIER c.325+2348C>T
c.325+2348C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8653625
chr1:8653649 C
C
 T
T
 1 a0005c0013t0029g0111
a0005c0013t0029g0111
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.325+2324G>A
c.325+2324G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8653649
chr1:8653694 C
C
 CA
CA
 20 a0001c0001t0001g0066
a0001c0001t0001g0069
a0001c0001t0001g0075
others(17): Show 
a0001c0001t0001g0066
a0001c0001t0001g0069
a0001c0001t0001g0075
a0001c0001t0003g0115
a0001c0001t0006g0153
a0001c0001t0006g0184
a0001c0001t0023g0113
a0001c0002t0002g0157
a0001c0002t0002g0176
a0001c0002t0005g0110
a0001c0003t0017g0032
a0001c0005t0034g0156
a0001c0009t0041g0198
a0001c0019t0014g0119
a0002c0006t0003g0139
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0005c0013t0029g0111
 20 HG00544.hp1
HG00597.hp1
HG01361.hp2
others(17): Show 
HG00544.hp1
HG00597.hp1
HG01361.hp2
HG02027.hp1
HG02145.hp1
HG02622.hp1
HG02647.hp1
HG02723.hp1
HG02970.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp2
HG04115.hp2
NA18944.hp1
NA18967.hp1
NA18967.hp2
NA19000.hp2
 intron_variant MODIFIER c.325+2278dupT
c.325+2278dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8653694
chr1:8653694 C
C
 CAA
CAA
 5 a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0031g0144
others(2): Show 
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0031g0144
a0001c0002t0032g0155
a0001c0003t0008g0085
 5 HG01934.hp1
HG02523.hp2
HG03579.hp1
others(2): Show 
HG01934.hp1
HG02523.hp2
HG03579.hp1
NA18973.hp2
NA18993.hp2
 intron_variant MODIFIER c.325+2277_325+2278d
others(4): Show 
c.325+2277_325+2278dupTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8653694
chr1:8653716 A
A
 G
G
 13 a0001c0001t0001g0073
a0001c0001t0003g0122
a0001c0002t0005g0128
others(10): Show 
a0001c0001t0001g0073
a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0004t0022g0121
a0009c0021t0003g0135
 13 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(10): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03139.hp1
HG03225.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.325+2257T>C
c.325+2257T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8653716
chr1:8653746 A
A
 G
G
 1 a0001c0010t0013g0024
a0001c0010t0013g0024
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.325+2227T>C
c.325+2227T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8653746
chr1:8653800 T
T
 C
C
 5 a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
others(2): Show 
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
 5 HG02109.hp1
HG02257.hp2
HG02818.hp1
others(2): Show 
HG02109.hp1
HG02257.hp2
HG02818.hp1
HG03209.hp1
HG03516.hp1
 intron_variant MODIFIER c.325+2173A>G
c.325+2173A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8653800
chr1:8653895 ACAG
ACAG
 A
A
 3 a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0025g0080
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0025g0080
 3 HG01433.hp2
HG02735.hp2
HG04228.hp2
HG01433.hp2
HG02735.hp2
HG04228.hp2
 intron_variant MODIFIER c.325+2075_325+2077d
others(5): Show 
c.325+2075_325+2077delCTG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8653895
chr1:8654028 C
C
 CT
CT
 6 a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0003g0103
others(3): Show 
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0003g0103
a0001c0002t0002g0148
a0001c0002t0002g0151
a0001c0005t0026g0127
 6 HG01167.hp2
HG01169.hp2
HG01261.hp2
others(3): Show 
HG01167.hp2
HG01169.hp2
HG01261.hp2
HG04184.hp1
NA19090.hp2
NA21309.hp1
 intron_variant MODIFIER c.325+1944dupA
c.325+1944dupA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8654028
chr1:8654028 CT
CT
 C
C
 13 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(10): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0034g0156
a0001c0009t0041g0198
a0007c0020t0039g0197
 13 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(10): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02622.hp1
HG02818.hp1
HG02886.hp2
HG02970.hp2
HG03130.hp1
HG03209.hp1
HG03453.hp2
HG03516.hp1
HG03579.hp1
HG06807.hp1
 intron_variant MODIFIER c.325+1944delA
c.325+1944delA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8654028
chr1:8654046 G
G
 C
C
 1 a0001c0004t0010g0142
a0001c0004t0010g0142
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.325+1927C>G
c.325+1927C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8654046
chr1:8654088 G
G
 A
A
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.325+1885C>T
c.325+1885C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8654088
chr1:8654143 G
G
 C
C
 90 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(87): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
 90 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(87): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03453.hp1
HG03471.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.325+1830C>G
c.325+1830C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8654143
chr1:8654180 C
C
 T
T
 24 a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
others(21): Show 
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0016g0054
a0001c0001t0030g0143
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0003t0011g0096
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0008c0017t0003g0101
a0010c0027t0003g0086
 24 HG00280.hp2
HG00609.hp1
HG01496.hp1
others(21): Show 
HG00280.hp2
HG00609.hp1
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG03688.hp2
NA18944.hp2
NA18964.hp1
NA18983.hp1
NA18985.hp1
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.325+1793G>A
c.325+1793G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8654180
chr1:8654228 G
G
 A
A
 3 a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
 3 HG02145.hp1
HG02970.hp2
HG06807.hp1
HG02145.hp1
HG02970.hp2
HG06807.hp1
 intron_variant MODIFIER c.325+1745C>T
c.325+1745C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8654228
chr1:8654283 G
G
 A
A
 89 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(86): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
 89 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(86): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03453.hp1
HG03471.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.325+1690C>T
c.325+1690C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8654283
chr1:8654625 GTTTTGTT
others(3): Show 
GTTTTGTTTTT
 G
G
 3 a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
 3 HG02145.hp1
HG02970.hp2
HG06807.hp1
HG02145.hp1
HG02970.hp2
HG06807.hp1
 intron_variant MODIFIER c.325+1338_325+1347d
others(12): Show 
c.325+1338_325+1347delAAAAACAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8654625
chr1:8654630 G
G
 GT
GT
 6 a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0004t0010g0107
a0001c0004t0014g0126
a0001c0004t0027g0106
a0001c0005t0026g0127
 6 HG01515.hp2
HG01517.hp1
HG02886.hp2
others(3): Show 
HG01515.hp2
HG01517.hp1
HG02886.hp2
HG02965.hp2
HG03453.hp2
NA21309.hp1
 intron_variant MODIFIER c.325+1342dupA
c.325+1342dupA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8654630
chr1:8654630 G
G
 T
T
 4 a0001c0002t0002g0157
a0001c0002t0006g0145
a0001c0002t0032g0155
others(1): Show 
a0001c0002t0002g0157
a0001c0002t0006g0145
a0001c0002t0032g0155
a0001c0005t0034g0156
 4 HG02622.hp1
HG03130.hp1
HG03491.hp1
others(1): Show 
HG02622.hp1
HG03130.hp1
HG03491.hp1
HG03579.hp1
 intron_variant MODIFIER c.325+1343C>A
c.325+1343C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8654630
chr1:8654640 G
G
 GT
GT
 42 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(39): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0150
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0003t0012g0022
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0002c0026t0008g0140
a0008c0017t0003g0101
a0010c0027t0003g0086
 42 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(39): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02735.hp2
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19043.hp2
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.325+1332dupA
c.325+1332dupA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8654640
chr1:8654640 G
G
 T
T
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.325+1333C>A
c.325+1333C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8654640
chr1:8654915 T
T
 G
G
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.325+1058A>C
c.325+1058A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8654915
chr1:8655056 C
C
 CTA
CTA
 2 a0001c0004t0010g0120
a0001c0004t0022g0121
a0001c0004t0010g0120
a0001c0004t0022g0121
 2 HG01167.hp1
HG02257.hp1
HG01167.hp1
HG02257.hp1
 intron_variant MODIFIER c.325+915_325+916dup
others(2): Show 
c.325+915_325+916dupTA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8655056
chr1:8655229 C
C
 T
T
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.325+744G>A
c.325+744G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8655229
chr1:8655230 G
G
 A
A
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.325+743C>T
c.325+743C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8655230
chr1:8655403 C
C
 T
T
 4 a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
others(1): Show 
a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0005t0026g0127
 4 HG02559.hp1
HG02965.hp2
HG03579.hp2
others(1): Show 
HG02559.hp1
HG02965.hp2
HG03579.hp2
NA21309.hp1
 intron_variant MODIFIER c.325+570G>A
c.325+570G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8655403
chr1:8655769 CAA
CAA
 C
C
 3 a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0016t0020g0001
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0016t0020g0001
 3 HG02683.hp2
HG06807.hp2
NA20129.hp2
HG02683.hp2
HG06807.hp2
NA20129.hp2
 intron_variant MODIFIER c.325+202_325+203del
others(2): Show 
c.325+202_325+203delTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8655769
chr1:8655912 T
T
 C
C
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.325+61A>G
c.325+61A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8655912
chr1:8655943 T
T
 C
C
 1 a0001c0001t0003g0118
a0001c0001t0003g0118
 1 HG02523.hp2
HG02523.hp2
 intron_variant MODIFIER c.325+30A>G
c.325+30A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 2/22 chr1 8655943
chr1:8656484 G
G
 C
C
 98 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(95): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0123
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
a0007c0020t0039g0197
 98 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(95): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03453.hp1
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-144-43C>G
c.-144-43C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8656484
chr1:8656512 A
A
 C
C
 1 a0001c0001t0023g0113
a0001c0001t0023g0113
 1 HG00544.hp1
HG00544.hp1
 intron_variant MODIFIER c.-144-71T>G
c.-144-71T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8656512
chr1:8656838 C
C
 T
T
 1 a0001c0002t0002g0177
a0001c0002t0002g0177
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.-144-397G>A
c.-144-397G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8656838
chr1:8656843 C
C
 T
T
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.-144-402G>A
c.-144-402G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8656843
chr1:8656906 G
G
 A
A
 1 a0001c0007t0003g0099
a0001c0007t0003g0099
 1 NA20752.hp2
NA20752.hp2
 intron_variant MODIFIER c.-144-465C>T
c.-144-465C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8656906
chr1:8656972 C
C
 A
A
 2 a0001c0002t0005g0110
a0005c0013t0029g0111
a0001c0002t0005g0110
a0005c0013t0029g0111
 2 HG02723.hp1
HG03041.hp1
HG02723.hp1
HG03041.hp1
 intron_variant MODIFIER c.-144-531G>T
c.-144-531G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8656972
chr1:8657085 G
G
 A
A
 1 a0001c0001t0006g0181
a0001c0001t0006g0181
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.-144-644C>T
c.-144-644C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8657085
chr1:8657320 AAAG
AAAG
 A
A
 5 a0001c0002t0002g0157
a0001c0002t0006g0145
a0001c0002t0032g0155
others(2): Show 
a0001c0002t0002g0157
a0001c0002t0006g0145
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0019t0014g0119
 5 HG02622.hp1
HG03130.hp1
HG03195.hp2
others(2): Show 
HG02622.hp1
HG03130.hp1
HG03195.hp2
HG03491.hp1
HG03579.hp1
 intron_variant MODIFIER c.-144-882_-144-880d
others(5): Show 
c.-144-882_-144-880delCTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8657320
chr1:8657321 AAG
AAG
 A
A
 38 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(35): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0003t0008g0085
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0008c0017t0003g0101
a0010c0027t0003g0086
 38 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(35): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02735.hp2
HG02886.hp2
HG03453.hp2
HG03669.hp1
HG03688.hp2
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.-144-882_-144-881d
others(4): Show 
c.-144-882_-144-881delCT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8657321
chr1:8657322 AG
AG
 A
A
 103 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(100): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0002g0167
a0001c0002t0005g0110
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0013g0053
a0001c0002t0028g0133
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0004t0010g0120
a0001c0004t0022g0121
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0009c0021t0003g0135
 103 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(100): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01884.hp1
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03225.hp1
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18985.hp2
NA18993.hp1
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-144-882delC
c.-144-882delC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8657322
chr1:8657323 G
G
 A
A
 52 a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0069
others(49): Show 
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0069
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0152
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0018g0002
a0001c0002t0033g0186
a0001c0002t0035g0160
a0001c0004t0003g0109
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0026g0127
a0001c0009t0041g0198
a0001c0014t0002g0191
a0001c0018t0001g0005
a0001c0023t0002g0175
a0001c0024t0002g0182
a0007c0020t0039g0197
 52 HG00741.hp1
HG01168.hp1
HG01169.hp1
others(49): Show 
HG00741.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01255.hp2
HG01358.hp1
HG01361.hp1
HG01884.hp2
HG01981.hp2
HG02027.hp2
HG02080.hp2
HG02109.hp1
HG02129.hp1
HG02132.hp2
HG02145.hp1
HG02257.hp2
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02698.hp2
HG02818.hp1
HG02896.hp2
HG02965.hp2
HG02970.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03688.hp1
HG04115.hp1
HG04184.hp1
HG04199.hp1
HG04228.hp1
HG06807.hp1
NA18939.hp2
NA18946.hp2
NA18967.hp2
NA18983.hp2
NA19000.hp2
NA19070.hp1
NA19085.hp1
NA20300.hp2
NA20752.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-144-882C>T
c.-144-882C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8657323
chr1:8657766 G
G
 C
C
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.-144-1325C>G
c.-144-1325C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8657766
chr1:8657826 A
A
 G
G
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.-144-1385T>C
c.-144-1385T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8657826
chr1:8657946 G
G
 A
A
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.-144-1505C>T
c.-144-1505C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8657946
chr1:8658026 G
G
 A
A
 41 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(38): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0002t0018g0002
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0008c0017t0003g0101
a0010c0027t0003g0086
 41 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(38): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02559.hp1
HG02735.hp2
HG02965.hp2
HG03491.hp1
HG03579.hp2
HG03669.hp1
HG03688.hp2
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.-144-1585C>T
c.-144-1585C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8658026
chr1:8658039 A
A
 G
G
 1 a0001c0001t0001g0004
a0001c0001t0001g0004
 1 NA19074.hp1
NA19074.hp1
 intron_variant MODIFIER c.-144-1598T>C
c.-144-1598T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8658039
chr1:8658127 T
T
 C
C
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.-144-1686A>G
c.-144-1686A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8658127
chr1:8658145 T
T
 C
C
 1 a0001c0007t0004g0044
a0001c0007t0004g0044
 1 NA18964.hp2
NA18964.hp2
 intron_variant MODIFIER c.-144-1704A>G
c.-144-1704A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8658145
chr1:8658176 T
T
 G
G
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.-144-1735A>C
c.-144-1735A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8658176
chr1:8658468 C
C
 T
T
 3 a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0036
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0036
 3 HG02698.hp1
HG03654.hp2
homoSapiens_chm13v2.hp1
HG02698.hp1
HG03654.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-144-2027G>A
c.-144-2027G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8658468
chr1:8658614 G
G
 A
A
 14 a0001c0001t0003g0122
a0001c0002t0005g0110
a0001c0002t0005g0128
others(11): Show 
a0001c0001t0003g0122
a0001c0002t0005g0110
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0004t0022g0121
a0005c0013t0029g0111
a0009c0021t0003g0135
 14 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(11): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02723.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03041.hp1
HG03225.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.-144-2173C>T
c.-144-2173C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8658614
chr1:8658755 C
C
 CA
CA
 7 a0001c0001t0001g0040
a0001c0001t0006g0154
a0001c0001t0036g0194
others(4): Show 
a0001c0001t0001g0040
a0001c0001t0006g0154
a0001c0001t0036g0194
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0002c0006t0003g0097
 7 HG02155.hp1
HG02622.hp1
HG03130.hp1
others(4): Show 
HG02155.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
NA18944.hp2
NA18985.hp2
NA20300.hp2
 intron_variant MODIFIER c.-144-2315dupT
c.-144-2315dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8658755
chr1:8658768 G
G
 A
A
 4 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
others(1): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0019t0014g0119
 4 HG02622.hp1
HG03130.hp1
HG03195.hp2
others(1): Show 
HG02622.hp1
HG03130.hp1
HG03195.hp2
HG03579.hp1
 intron_variant MODIFIER c.-144-2327C>T
c.-144-2327C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8658768
chr1:8658809 T
T
 C
C
 1 a0001c0001t0030g0143
a0001c0001t0030g0143
 1 HG02155.hp2
HG02155.hp2
 intron_variant MODIFIER c.-144-2368A>G
c.-144-2368A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8658809
chr1:8659091 A
A
 G
G
 14 a0001c0001t0003g0122
a0001c0002t0005g0110
a0001c0002t0005g0128
others(11): Show 
a0001c0001t0003g0122
a0001c0002t0005g0110
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0004t0022g0121
a0005c0013t0029g0111
a0009c0021t0003g0135
 14 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(11): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02723.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03041.hp1
HG03225.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.-144-2650T>C
c.-144-2650T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8659091
chr1:8659285 G
G
 A
A
 1 a0001c0001t0001g0069
a0001c0001t0001g0069
 1 NA19000.hp2
NA19000.hp2
 intron_variant MODIFIER c.-144-2844C>T
c.-144-2844C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8659285
chr1:8659393 C
C
 T
T
 2 a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0004g0016
a0001c0009t0004g0020
 2 HG01168.hp2
HG01255.hp1
HG01168.hp2
HG01255.hp1
 intron_variant MODIFIER c.-144-2952G>A
c.-144-2952G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8659393
chr1:8659579 C
C
 T
T
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.-144-3138G>A
c.-144-3138G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8659579
chr1:8660290 G
G
 C
C
 1 a0001c0002t0005g0110
a0001c0002t0005g0110
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.-144-3849C>G
c.-144-3849C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8660290
chr1:8660481 A
A
 G
G
 1 a0001c0001t0001g0069
a0001c0001t0001g0069
 1 NA19000.hp2
NA19000.hp2
 intron_variant MODIFIER c.-144-4040T>C
c.-144-4040T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8660481
chr1:8660483 T
T
 C
C
 2 a0001c0004t0010g0120
a0001c0004t0022g0121
a0001c0004t0010g0120
a0001c0004t0022g0121
 2 HG01167.hp1
HG02257.hp1
HG01167.hp1
HG02257.hp1
 intron_variant MODIFIER c.-144-4042A>G
c.-144-4042A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8660483
chr1:8660700 C
C
 G
G
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.-144-4259G>C
c.-144-4259G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8660700
chr1:8661023 G
G
 A
A
 1 a0001c0003t0004g0035
a0001c0003t0004g0035
 1 HG00639.hp2
HG00639.hp2
 intron_variant MODIFIER c.-144-4582C>T
c.-144-4582C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8661023
chr1:8661084 C
C
 CAG
CAG
 109 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(106): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0002g0157
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0123
a0001c0004t0010g0107
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
a0007c0020t0039g0197
 109 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(106): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-144-4644_-144-464
others(6): Show 
c.-144-4644_-144-4643insCT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8661084
chr1:8661234 A
A
 C
C
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-144-4793T>G
c.-144-4793T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8661234
chr1:8661343 G
G
 A
A
 28 a0001c0001t0001g0015
a0001c0003t0004g0007
a0001c0003t0004g0010
others(25): Show 
a0001c0001t0001g0015
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0005g0123
a0001c0007t0001g0008
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0015t0001g0009
a0002c0006t0003g0139
a0002c0026t0008g0140
a0004c0012t0008g0137
a0004c0012t0008g0138
 28 HG00140.hp1
HG00544.hp2
HG00639.hp2
others(25): Show 
HG00140.hp1
HG00544.hp2
HG00639.hp2
HG00741.hp2
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG01358.hp2
HG01361.hp2
HG01981.hp1
HG02258.hp1
HG02280.hp2
HG02602.hp2
HG02622.hp2
HG02698.hp1
HG02896.hp1
HG02976.hp2
HG03195.hp1
HG03654.hp2
HG03831.hp1
HG04115.hp2
NA18939.hp1
NA18946.hp1
NA18973.hp1
NA18993.hp1
NA19009.hp2
NA19043.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-144-4902C>T
c.-144-4902C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8661343
chr1:8661524 T
T
 G
G
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.-144-5083A>C
c.-144-5083A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8661524
chr1:8661756 G
G
 T
T
 1 a0001c0004t0003g0109
a0001c0004t0003g0109
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.-144-5315C>A
c.-144-5315C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8661756
chr1:8661814 T
T
 A
A
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.-144-5373A>T
c.-144-5373A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8661814
chr1:8661915 G
G
 A
A
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.-144-5474C>T
c.-144-5474C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8661915
chr1:8662152 G
G
 T
T
 2 a0001c0004t0014g0126
a0001c0005t0026g0127
a0001c0004t0014g0126
a0001c0005t0026g0127
 2 HG02965.hp2
NA21309.hp1
HG02965.hp2
NA21309.hp1
 intron_variant MODIFIER c.-144-5711C>A
c.-144-5711C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8662152
chr1:8662339 C
C
 CA
CA
 4 a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
others(1): Show 
a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0005t0026g0127
 4 HG02559.hp1
HG02965.hp2
HG03579.hp2
others(1): Show 
HG02559.hp1
HG02965.hp2
HG03579.hp2
NA21309.hp1
 intron_variant MODIFIER c.-144-5899dupT
c.-144-5899dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8662339
chr1:8662448 A
A
 G
G
 162 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(159): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 162 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(159): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-144-6007T>C
c.-144-6007T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8662448
chr1:8662506 AC
AC
 A
A
 3 a0001c0001t0001g0067
a0001c0001t0003g0124
a0001c0002t0013g0053
a0001c0001t0001g0067
a0001c0001t0003g0124
a0001c0002t0013g0053
 3 HG03491.hp2
HG03831.hp2
NA20905.hp1
HG03491.hp2
HG03831.hp2
NA20905.hp1
 intron_variant MODIFIER c.-144-6066delG
c.-144-6066delG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8662506
chr1:8662508 C
C
 T
T
 2 a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0171
a0001c0002t0002g0172
 2 HG01515.hp2
HG01517.hp1
HG01515.hp2
HG01517.hp1
 intron_variant MODIFIER c.-144-6067G>A
c.-144-6067G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8662508
chr1:8662699 T
T
 TA
TA
 4 a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
others(1): Show 
a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0005t0026g0127
 4 HG02559.hp1
HG02965.hp2
HG03579.hp2
others(1): Show 
HG02559.hp1
HG02965.hp2
HG03579.hp2
NA21309.hp1
 intron_variant MODIFIER c.-144-6259dupT
c.-144-6259dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8662699
chr1:8662746 G
G
 A
A
 1 a0001c0001t0001g0013
a0001c0001t0001g0013
 1 HG01192.hp2
HG01192.hp2
 intron_variant MODIFIER c.-144-6305C>T
c.-144-6305C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8662746
chr1:8663439 A
A
 G
G
 4 a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
others(1): Show 
a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0005t0026g0127
 4 HG02559.hp1
HG02965.hp2
HG03579.hp2
others(1): Show 
HG02559.hp1
HG02965.hp2
HG03579.hp2
NA21309.hp1
 intron_variant MODIFIER c.-144-6998T>C
c.-144-6998T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8663439
chr1:8663618 G
G
 C
C
 1 a0001c0002t0005g0116
a0001c0002t0005g0116
 1 HG00639.hp1
HG00639.hp1
 intron_variant MODIFIER c.-144-7177C>G
c.-144-7177C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8663618
chr1:8663886 G
G
 A
A
 1 a0001c0002t0005g0116
a0001c0002t0005g0116
 1 HG00639.hp1
HG00639.hp1
 intron_variant MODIFIER c.-144-7445C>T
c.-144-7445C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8663886
chr1:8664109 T
T
 C
C
 1 a0001c0007t0004g0044
a0001c0007t0004g0044
 1 NA18964.hp2
NA18964.hp2
 intron_variant MODIFIER c.-144-7668A>G
c.-144-7668A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8664109
chr1:8664179 C
C
 A
A
 1 a0005c0013t0029g0111
a0005c0013t0029g0111
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.-144-7738G>T
c.-144-7738G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8664179
chr1:8664400 G
G
 A
A
 1 a0008c0017t0003g0101
a0008c0017t0003g0101
 1 NA20905.hp2
NA20905.hp2
 intron_variant MODIFIER c.-144-7959C>T
c.-144-7959C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8664400
chr1:8664463 C
C
 T
T
 109 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(106): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0030g0143
a0001c0001t0036g0194
a0001c0002t0002g0157
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0004t0010g0107
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
a0007c0020t0039g0197
 109 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(106): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-144-8022G>A
c.-144-8022G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8664463
chr1:8664494 T
T
 C
C
 1 a0001c0001t0006g0181
a0001c0001t0006g0181
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.-144-8053A>G
c.-144-8053A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8664494
chr1:8664495 G
G
 C
C
 1 a0001c0001t0001g0037
a0001c0001t0001g0037
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.-144-8054C>G
c.-144-8054C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8664495
chr1:8664592 A
A
 T
T
 1 a0001c0004t0040g0199
a0001c0004t0040g0199
 1 HG02970.hp2
HG02970.hp2
 intron_variant MODIFIER c.-144-8151T>A
c.-144-8151T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8664592
chr1:8664724 T
T
 C
C
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-144-8283A>G
c.-144-8283A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8664724
chr1:8664747 C
C
 T
T
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-144-8306G>A
c.-144-8306G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8664747
chr1:8664898 T
T
 C
C
 1 a0001c0001t0001g0039
a0001c0001t0001g0039
 1 HG02004.hp2
HG02004.hp2
 intron_variant MODIFIER c.-144-8457A>G
c.-144-8457A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8664898
chr1:8665103 C
C
 G
G
 4 a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
others(1): Show 
a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0005t0026g0127
 4 HG02559.hp1
HG02965.hp2
HG03579.hp2
others(1): Show 
HG02559.hp1
HG02965.hp2
HG03579.hp2
NA21309.hp1
 intron_variant MODIFIER c.-144-8662G>C
c.-144-8662G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8665103
chr1:8665179 C
C
 T
T
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.-144-8738G>A
c.-144-8738G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8665179
chr1:8665312 C
C
 G
G
 1 a0001c0002t0002g0178
a0001c0002t0002g0178
 1 HG02293.hp2
HG02293.hp2
 intron_variant MODIFIER c.-144-8871G>C
c.-144-8871G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8665312
chr1:8665335 A
A
 T
T
 1 a0001c0001t0006g0184
a0001c0001t0006g0184
 1 NA18944.hp1
NA18944.hp1
 intron_variant MODIFIER c.-144-8894T>A
c.-144-8894T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8665335
chr1:8665361 T
T
 C
C
 48 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(45): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0005t0019g0030
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0005c0013t0021g0023
a0006c0025t0007g0025
a0008c0017t0003g0101
a0010c0027t0003g0086
 48 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(45): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02280.hp1
HG02293.hp1
HG02451.hp2
HG02523.hp2
HG02647.hp2
HG02723.hp2
HG02735.hp2
HG02809.hp2
HG02965.hp1
HG03130.hp2
HG03471.hp1
HG03491.hp1
HG03540.hp2
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.-144-8920A>G
c.-144-8920A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8665361
chr1:8665524 G
G
 C
C
 1 a0001c0002t0002g0150
a0001c0002t0002g0150
 1 HG01981.hp2
HG01981.hp2
 intron_variant MODIFIER c.-144-9083C>G
c.-144-9083C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8665524
chr1:8665551 C
C
 T
T
 1 a0001c0001t0001g0037
a0001c0001t0001g0037
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.-144-9110G>A
c.-144-9110G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8665551
chr1:8665554 T
T
 G
G
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-144-9113A>C
c.-144-9113A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8665554
chr1:8665916 C
C
 G
G
 1 a0001c0005t0026g0127
a0001c0005t0026g0127
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.-144-9475G>C
c.-144-9475G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8665916
chr1:8665934 C
C
 T
T
 108 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(105): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0002g0157
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0004t0010g0107
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
a0007c0020t0039g0197
 108 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(105): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-144-9493G>A
c.-144-9493G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8665934
chr1:8665952 C
C
 T
T
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.-144-9511G>A
c.-144-9511G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8665952
chr1:8666121 T
T
 C
C
 2 a0004c0012t0008g0137
a0004c0012t0008g0138
a0004c0012t0008g0137
a0004c0012t0008g0138
 2 HG02976.hp2
HG03195.hp1
HG02976.hp2
HG03195.hp1
 intron_variant MODIFIER c.-144-9680A>G
c.-144-9680A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8666121
chr1:8666496 C
C
 T
T
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-144-10055G>A
c.-144-10055G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8666496
chr1:8666568 C
C
 T
T
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.-144-10127G>A
c.-144-10127G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8666568
chr1:8666592 G
G
 A
A
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.-144-10151C>T
c.-144-10151C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8666592
chr1:8666662 T
T
 C
C
 119 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(116): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0013g0053
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0123
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0022g0121
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0009c0021t0003g0135
 119 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(116): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01884.hp1
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-144-10221A>G
c.-144-10221A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8666662
chr1:8666871 C
C
 T
T
 1 a0001c0003t0004g0042
a0001c0003t0004g0042
 1 NA18993.hp1
NA18993.hp1
 intron_variant MODIFIER c.-144-10430G>A
c.-144-10430G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8666871
chr1:8667099 T
T
 C
C
 21 a0001c0001t0003g0122
a0001c0002t0002g0157
a0001c0002t0005g0110
others(18): Show 
a0001c0001t0003g0122
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0004t0003g0109
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0022g0121
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
a0005c0013t0029g0111
a0009c0021t0003g0135
 21 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(18): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02622.hp1
HG02723.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG03041.hp1
HG03130.hp1
HG03195.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp2
HG03579.hp1
NA18906.hp2
NA21309.hp2
 intron_variant MODIFIER c.-144-10658A>G
c.-144-10658A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8667099
chr1:8667449 G
G
 A
A
 1 a0001c0002t0002g0183
a0001c0002t0002g0183
 1 HG01934.hp2
HG01934.hp2
 intron_variant MODIFIER c.-144-11008C>T
c.-144-11008C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8667449
chr1:8667535 G
G
 C
C
 1 a0001c0003t0012g0022
a0001c0003t0012g0022
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.-144-11094C>G
c.-144-11094C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8667535
chr1:8667536 G
G
 A
A
 1 a0005c0013t0029g0111
a0005c0013t0029g0111
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.-144-11095C>T
c.-144-11095C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8667536
chr1:8667668 C
C
 A
A
 1 a0001c0001t0006g0170
a0001c0001t0006g0170
 1 HG02698.hp2
HG02698.hp2
 intron_variant MODIFIER c.-144-11227G>T
c.-144-11227G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8667668
chr1:8667709 C
C
 A
A
 1 a0001c0004t0003g0109
a0001c0004t0003g0109
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.-144-11268G>T
c.-144-11268G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8667709
chr1:8667817 G
G
 A
A
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.-144-11376C>T
c.-144-11376C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8667817
chr1:8667881 T
T
 C
C
 9 a0001c0004t0003g0109
a0001c0004t0040g0199
a0001c0005t0009g0200
others(6): Show 
a0001c0004t0003g0109
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 9 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(6): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
NA21309.hp2
 intron_variant MODIFIER c.-144-11440A>G
c.-144-11440A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8667881
chr1:8667885 G
G
 T
T
 42 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0038
others(39): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0013g0053
a0001c0003t0004g0068
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0018t0001g0005
 42 HG00140.hp2
HG00280.hp1
HG00597.hp2
others(39): Show 
HG00140.hp2
HG00280.hp1
HG00597.hp2
HG00609.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01261.hp1
HG01433.hp1
HG01496.hp2
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp2
HG02486.hp2
HG02523.hp1
HG02683.hp1
HG03491.hp2
HG03688.hp1
HG03831.hp2
HG04184.hp2
HG04199.hp2
NA18944.hp1
NA18964.hp2
NA18967.hp1
NA18983.hp2
NA18985.hp2
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.-144-11444C>A
c.-144-11444C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8667885
chr1:8668128 C
C
 A
A
 38 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(35): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0008c0017t0003g0101
a0010c0027t0003g0086
 38 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(35): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02735.hp2
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.-144-11687G>T
c.-144-11687G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8668128
chr1:8668465 G
G
 A
A
 1 a0007c0020t0039g0197
a0007c0020t0039g0197
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.-144-12024C>T
c.-144-12024C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8668465
chr1:8668480 C
C
 T
T
 1 a0005c0013t0021g0023
a0005c0013t0021g0023
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.-144-12039G>A
c.-144-12039G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8668480
chr1:8668528 T
T
 C
C
 2 a0001c0002t0005g0128
a0001c0002t0005g0132
a0001c0002t0005g0128
a0001c0002t0005g0132
 2 HG01884.hp1
HG02109.hp2
HG01884.hp1
HG02109.hp2
 intron_variant MODIFIER c.-144-12087A>G
c.-144-12087A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8668528
chr1:8668606 C
C
 T
T
 38 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(35): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0008c0017t0003g0101
a0010c0027t0003g0086
 38 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(35): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02735.hp2
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.-144-12165G>A
c.-144-12165G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8668606
chr1:8668758 G
G
 A
A
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.-144-12317C>T
c.-144-12317C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8668758
chr1:8668805 G
G
 A
A
 90 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(87): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
 90 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(87): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03453.hp1
HG03471.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-144-12364C>T
c.-144-12364C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8668805
chr1:8668894 ATCTGTGA
others(93): Show 
ATCTGTGAATATTCTAAAATGCACTAAACTCTGTGTGTGTGTGTGTGTGT
GTGTGTGTGTGTGTGTGTGTTGTGTTTTTAAGACAGGGTCTCACTCTGTC
T
 A
A
 82 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(79): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
 82 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(79): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03453.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-144-12553_-144-12
others(106): Show 
c.-144-12553_-144-12454delAGACAGAGTGAGACCCTGTCTTAA
AAACACAACACACACACACACACACACACACACACACACACACACAGAGT
TTAGTGCATTTTAGAATATTCACAGA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8668894
chr1:8668919 A
A
 C
C
 18 a0001c0001t0001g0066
a0001c0001t0001g0069
a0001c0002t0002g0157
others(15): Show 
a0001c0001t0001g0066
a0001c0001t0001g0069
a0001c0002t0002g0157
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0017g0032
a0001c0004t0010g0107
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0027g0106
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0019t0014g0119
a0005c0013t0021g0023
a0006c0025t0007g0025
 18 HG02027.hp1
HG02258.hp2
HG02559.hp1
others(15): Show 
HG02027.hp1
HG02258.hp2
HG02559.hp1
HG02622.hp1
HG02809.hp2
HG02886.hp2
HG02965.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03471.hp1
HG03579.hp1
HG03579.hp2
HG04115.hp2
NA18939.hp1
NA18993.hp1
NA19000.hp2
NA21309.hp1
 intron_variant MODIFIER c.-144-12478T>G
c.-144-12478T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8668919
chr1:8668924 C
C
 CTG
CTG
 11 a0001c0001t0037g0196
a0001c0002t0002g0163
a0001c0002t0002g0164
others(8): Show 
a0001c0001t0037g0196
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0005g0134
a0001c0023t0002g0175
 11 HG01515.hp2
HG01517.hp1
HG01517.hp2
others(8): Show 
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG02129.hp1
HG02451.hp1
HG02818.hp2
NA18939.hp2
NA18946.hp2
NA18967.hp2
NA19070.hp1
NA19085.hp1
 intron_variant MODIFIER c.-144-12485_-144-12
others(8): Show 
c.-144-12485_-144-12484dupCA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8668924
chr1:8668924 C
C
 CTGTG
CTGTG
 5 a0001c0001t0006g0154
a0001c0001t0006g0181
a0001c0002t0002g0169
others(2): Show 
a0001c0001t0006g0154
a0001c0001t0006g0181
a0001c0002t0002g0169
a0001c0002t0005g0110
a0001c0024t0002g0182
 5 HG02132.hp2
HG02723.hp1
HG02896.hp2
others(2): Show 
HG02132.hp2
HG02723.hp1
HG02896.hp2
HG04115.hp1
NA20300.hp2
 intron_variant MODIFIER c.-144-12487_-144-12
others(10): Show 
c.-144-12487_-144-12484dupCACA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8668924
chr1:8668924 C
C
 CTGTGTG
CTGTGTG
 11 a0001c0001t0006g0153
a0001c0002t0005g0128
a0001c0002t0005g0129
others(8): Show 
a0001c0001t0006g0153
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0004t0003g0109
a0001c0004t0010g0120
a0009c0021t0003g0135
 11 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(8): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02809.hp1
HG02886.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp2
NA18906.hp2
NA21309.hp2
 intron_variant MODIFIER c.-144-12489_-144-12
others(12): Show 
c.-144-12489_-144-12484dupCACACA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8668924
chr1:8668924 C
C
 CTGTGTGT
others(1): Show 
CTGTGTGTG
 7 a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0122
others(4): Show 
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0122
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0003t0008g0085
a0005c0013t0029g0111
 7 HG00639.hp1
HG01934.hp1
HG02145.hp2
others(4): Show 
HG00639.hp1
HG01934.hp1
HG02145.hp2
HG03041.hp1
HG03491.hp1
HG03688.hp2
NA19007.hp2
 intron_variant MODIFIER c.-144-12491_-144-12
others(14): Show 
c.-144-12491_-144-12484dupCACACACA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8668924
chr1:8668924 C
C
 CTGTGTGT
others(3): Show 
CTGTGTGTGTG
 9 a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
others(6): Show 
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0031g0144
a0001c0002t0005g0114
a0002c0006t0003g0089
a0002c0006t0003g0091
a0002c0006t0003g0094
a0008c0017t0003g0101
 9 HG00597.hp1
HG02004.hp1
HG02132.hp1
others(6): Show 
HG00597.hp1
HG02004.hp1
HG02132.hp1
HG02523.hp2
NA18973.hp2
NA18993.hp2
NA19002.hp2
NA19074.hp2
NA20905.hp2
 intron_variant MODIFIER c.-144-12493_-144-12
others(16): Show 
c.-144-12493_-144-12484dupCACACACACA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8668924
chr1:8668924 C
C
 CTGTGTGT
others(5): Show 
CTGTGTGTGTGTG
 8 a0001c0001t0003g0088
a0001c0007t0003g0084
a0001c0007t0003g0098
others(5): Show 
a0001c0001t0003g0088
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0002c0006t0003g0090
a0002c0006t0003g0097
a0002c0006t0024g0081
a0010c0027t0003g0086
 8 HG01496.hp1
HG02165.hp1
NA18944.hp2
others(5): Show 
HG01496.hp1
HG02165.hp1
NA18944.hp2
NA18983.hp1
NA18985.hp1
NA19000.hp1
NA19005.hp2
NA20752.hp2
 intron_variant MODIFIER c.-144-12495_-144-12
others(18): Show 
c.-144-12495_-144-12484dupCACACACACACA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8668924
chr1:8668924 C
C
 CTGTGTGT
others(7): Show 
CTGTGTGTGTGTGTG
 4 a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0016g0054
others(1): Show 
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0016g0054
a0001c0001t0023g0113
 4 HG00544.hp1
HG02293.hp1
NA18964.hp1
others(1): Show 
HG00544.hp1
HG02293.hp1
NA18964.hp1
NA20129.hp1
 intron_variant MODIFIER c.-144-12497_-144-12
others(20): Show 
c.-144-12497_-144-12484dupCACACACACACACA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8668924
chr1:8668924 C
C
 CTGTGTGT
others(9): Show 
CTGTGTGTGTGTGTGTG
 4 a0001c0001t0030g0143
a0001c0002t0018g0002
a0001c0004t0006g0146
others(1): Show 
a0001c0001t0030g0143
a0001c0002t0018g0002
a0001c0004t0006g0146
a0001c0004t0014g0126
 4 HG02155.hp2
HG02559.hp1
HG02965.hp2
others(1): Show 
HG02155.hp2
HG02559.hp1
HG02965.hp2
NA19043.hp1
 intron_variant MODIFIER c.-144-12499_-144-12
others(22): Show 
c.-144-12499_-144-12484dupCACACACACACACACA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8668924
chr1:8668924 C
C
 CTGTGTGT
others(11): Show 
CTGTGTGTGTGTGTGTGTG
 6 a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0003t0011g0096
others(3): Show 
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0003t0011g0096
a0001c0004t0010g0142
a0001c0004t0025g0080
a0001c0022t0008g0082
 6 HG00280.hp2
HG00609.hp1
HG02074.hp1
others(3): Show 
HG00280.hp2
HG00609.hp1
HG02074.hp1
HG03579.hp2
HG04228.hp2
NA19090.hp2
 intron_variant MODIFIER c.-144-12501_-144-12
others(24): Show 
c.-144-12501_-144-12484dupCACACACACACACACACA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8668924
chr1:8668924 C
C
 CTGTGTGT
others(13): Show 
CTGTGTGTGTGTGTGTGTGTG
 1 a0001c0004t0005g0083
a0001c0004t0005g0083
 1 HG01433.hp2
HG01433.hp2
 intron_variant MODIFIER c.-144-12503_-144-12
others(26): Show 
c.-144-12503_-144-12484dupCACACACACACACACACACA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8668924
chr1:8668924 C
C
 CTGTGTGT
others(15): Show 
CTGTGTGTGTGTGTGTGTGTGTG
 2 a0001c0001t0003g0087
a0001c0004t0005g0079
a0001c0001t0003g0087
a0001c0004t0005g0079
 2 HG02735.hp2
HG03669.hp1
HG02735.hp2
HG03669.hp1
 intron_variant MODIFIER c.-144-12505_-144-12
others(28): Show 
c.-144-12505_-144-12484dupCACACACACACACACACACACA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8668924
chr1:8668924 C
C
 G
G
 1 a0001c0001t0001g0066
a0001c0001t0001g0066
 1 HG02027.hp1
HG02027.hp1
 intron_variant MODIFIER c.-144-12483G>C
c.-144-12483G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8668924
chr1:8668924 CTG
CTG
 C
C
 6 a0001c0001t0038g0195
a0001c0002t0002g0148
a0001c0002t0002g0150
others(3): Show 
a0001c0001t0038g0195
a0001c0002t0002g0148
a0001c0002t0002g0150
a0001c0002t0002g0158
a0001c0002t0002g0187
a0001c0004t0022g0121
 6 HG01515.hp1
HG01981.hp2
HG02257.hp1
others(3): Show 
HG01515.hp1
HG01981.hp2
HG02257.hp1
HG03654.hp1
HG04184.hp1
HG04228.hp1
 intron_variant MODIFIER c.-144-12485_-144-12
others(8): Show 
c.-144-12485_-144-12484delCA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8668924
chr1:8668924 CTGTG
CTGTG
 C
C
 2 a0001c0002t0002g0178
a0001c0005t0026g0127
a0001c0002t0002g0178
a0001c0005t0026g0127
 2 HG02293.hp2
NA21309.hp1
HG02293.hp2
NA21309.hp1
 intron_variant MODIFIER c.-144-12487_-144-12
others(10): Show 
c.-144-12487_-144-12484delCACA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8668924
chr1:8668924 CTGTGTGT
others(3): Show 
CTGTGTGTGTG
 C
C
 2 a0001c0002t0002g0157
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0005t0034g0156
 2 HG02622.hp1
HG03130.hp1
HG02622.hp1
HG03130.hp1
 intron_variant MODIFIER c.-144-12493_-144-12
others(16): Show 
c.-144-12493_-144-12484delCACACACACA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8668924
chr1:8668924 CTGTGTGT
others(5): Show 
CTGTGTGTGTGTG
 C
C
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-144-12495_-144-12
others(18): Show 
c.-144-12495_-144-12484delCACACACACACA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8668924
chr1:8668924 CTGTGTGT
others(7): Show 
CTGTGTGTGTGTGTG
 C
C
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.-144-12497_-144-12
others(20): Show 
c.-144-12497_-144-12484delCACACACACACACA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8668924
chr1:8668924 CTGTGTGT
others(105): Show 
CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTGTGTTTTTA
AGACAGGGTCTCACTCTGTCTTCTGTGAATATTCTAAAATGCACTCAACT
CTGTGTGTGTGTG
 C
C
 3 a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
 3 HG02145.hp1
HG02970.hp2
HG06807.hp1
HG02145.hp1
HG02970.hp2
HG06807.hp1
 intron_variant MODIFIER c.-144-12595_-144-12
others(6): Show 
c.-144-12595_-144-12484del
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8668924
chr1:8668924 CTGTGTGT
others(113): Show 
CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTGTGTTTTTA
AGACAGGGTCTCACTCTGTCTTCTGTGAATATTCTAAAATGCACTCAACT
CTGTGTGTGTGTGTGTGTGTG
 C
C
 5 a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
others(2): Show 
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
 5 HG02109.hp1
HG02257.hp2
HG02818.hp1
others(2): Show 
HG02109.hp1
HG02257.hp2
HG02818.hp1
HG03209.hp1
HG03516.hp1
 intron_variant MODIFIER c.-144-12603_-144-12
others(6): Show 
c.-144-12603_-144-12484del
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8668924
chr1:8668936 GTGTGTGT
others(81): Show 
GTGTGTGTGTGTGTGTGTGTGTGTGTGTTGTGTTTTTAAGACAGGGTCTC
ACTCTGTCTTCTGTGAATATTCTAAAATGCACTCAACTC
 G
G
 1 a0001c0001t0001g0066
a0001c0001t0001g0066
 1 HG02027.hp1
HG02027.hp1
 intron_variant MODIFIER c.-144-12583_-144-12
others(94): Show 
c.-144-12583_-144-12496delGAGTTGAGTGCATTTTAGAATATT
CACAGAAGACAGAGTGAGACCCTGTCTTAAAAACACAACACACACACACA
CACACACACACACA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8668936
chr1:8668946 GTGTGTGT
others(71): Show 
GTGTGTGTGTGTGTGTGTTGTGTTTTTAAGACAGGGTCTCACTCTGTCTT
CTGTGAATATTCTAAAATGCACTCAACTC
 G
G
 5 a0001c0001t0001g0069
a0001c0003t0004g0068
a0001c0003t0017g0032
others(2): Show 
a0001c0001t0001g0069
a0001c0003t0004g0068
a0001c0003t0017g0032
a0005c0013t0021g0023
a0006c0025t0007g0025
 5 HG02258.hp2
HG02809.hp2
HG03471.hp1
others(2): Show 
HG02258.hp2
HG02809.hp2
HG03471.hp1
HG04115.hp2
NA19000.hp2
 intron_variant MODIFIER c.-144-12583_-144-12
others(84): Show 
c.-144-12583_-144-12506delGAGTTGAGTGCATTTTAGAATATT
CACAGAAGACAGAGTGAGACCCTGTCTTAAAAACACAACACACACACACA
CACA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8668946
chr1:8668948 GTGTGTGT
others(69): Show 
GTGTGTGTGTGTGTGTTGTGTTTTTAAGACAGGGTCTCACTCTGTCTTCT
GTGAATATTCTAAAATGCACTCAACTC
 G
G
 1 a0001c0003t0004g0041
a0001c0003t0004g0041
 1 NA18939.hp1
NA18939.hp1
 intron_variant MODIFIER c.-144-12583_-144-12
others(82): Show 
c.-144-12583_-144-12508delGAGTTGAGTGCATTTTAGAATATT
CACAGAAGACAGAGTGAGACCCTGTCTTAAAAACACAACACACACACACA
CA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8668948
chr1:8668954 GTGTGTGT
others(63): Show 
GTGTGTGTGTTGTGTTTTTAAGACAGGGTCTCACTCTGTCTTCTGTGAAT
ATTCTAAAATGCACTCAACTC
 G
G
 1 a0001c0003t0004g0042
a0001c0003t0004g0042
 1 NA18993.hp1
NA18993.hp1
 intron_variant MODIFIER c.-144-12583_-144-12
others(76): Show 
c.-144-12583_-144-12514delGAGTTGAGTGCATTTTAGAATATT
CACAGAAGACAGAGTGAGACCCTGTCTTAAAAACACAACACACACA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8668954
chr1:8669019 C
C
 A
A
 1 a0001c0004t0003g0109
a0001c0004t0003g0109
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.-144-12578G>T
c.-144-12578G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8669019
chr1:8669024 C
C
 CTG
CTG
 10 a0001c0002t0002g0149
a0001c0002t0002g0151
a0001c0002t0005g0125
others(7): Show 
a0001c0002t0002g0149
a0001c0002t0002g0151
a0001c0002t0005g0125
a0001c0002t0006g0145
a0001c0002t0035g0160
a0001c0003t0012g0022
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0011t0007g0029
a0001c0018t0001g0005
 10 HG01261.hp2
HG02280.hp1
HG02602.hp1
others(7): Show 
HG01261.hp2
HG02280.hp1
HG02602.hp1
HG03130.hp2
HG03453.hp1
HG03491.hp1
HG03669.hp2
HG03688.hp1
NA19043.hp2
NA21309.hp1
 intron_variant MODIFIER c.-144-12585_-144-12
others(8): Show 
c.-144-12585_-144-12584dupCA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8669024
chr1:8669024 C
C
 CTGTG
CTGTG
 8 a0001c0001t0001g0075
a0001c0001t0038g0195
a0001c0002t0002g0169
others(5): Show 
a0001c0001t0001g0075
a0001c0001t0038g0195
a0001c0002t0002g0169
a0001c0002t0002g0176
a0001c0002t0002g0178
a0001c0003t0011g0096
a0001c0004t0003g0109
a0001c0011t0007g0028
 8 HG01515.hp1
HG02074.hp1
HG02132.hp2
others(5): Show 
HG01515.hp1
HG02074.hp1
HG02132.hp2
HG02293.hp2
HG02451.hp2
NA18967.hp1
NA18967.hp2
NA21309.hp2
 intron_variant MODIFIER c.-144-12587_-144-12
others(10): Show 
c.-144-12587_-144-12584dupCACA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8669024
chr1:8669024 C
C
 CTGTGTG
CTGTGTG
 7 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0006g0170
others(4): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0006g0170
a0001c0002t0002g0173
a0001c0003t0011g0108
a0001c0003t0012g0018
a0001c0004t0010g0107
 7 HG02622.hp2
HG02698.hp2
HG03453.hp2
others(4): Show 
HG02622.hp2
HG02698.hp2
HG03453.hp2
HG04199.hp1
HG06807.hp2
NA19002.hp1
NA19005.hp1
 intron_variant MODIFIER c.-144-12589_-144-12
others(12): Show 
c.-144-12589_-144-12584dupCACACA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8669024
chr1:8669024 C
C
 CTGTGTGT
others(1): Show 
CTGTGTGTG
 4 a0001c0002t0002g0161
a0001c0002t0013g0053
a0001c0003t0004g0010
others(1): Show 
a0001c0002t0002g0161
a0001c0002t0013g0053
a0001c0003t0004g0010
a0001c0016t0020g0001
 4 HG02027.hp2
NA20129.hp2
NA20905.hp1
others(1): Show 
HG02027.hp2
NA20129.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-144-12591_-144-12
others(14): Show 
c.-144-12591_-144-12584dupCACACACA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8669024
chr1:8669024 C
C
 CTGTGTGT
others(3): Show 
CTGTGTGTGTG
 9 a0001c0001t0001g0013
a0001c0001t0001g0038
a0001c0001t0001g0051
others(6): Show 
a0001c0001t0001g0013
a0001c0001t0001g0038
a0001c0001t0001g0051
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0006g0184
a0001c0002t0002g0180
a0001c0003t0008g0105
a0001c0004t0001g0003
 9 HG00741.hp2
HG01167.hp2
HG01192.hp2
others(6): Show 
HG00741.hp2
HG01167.hp2
HG01192.hp2
HG02080.hp2
HG02129.hp2
HG02523.hp1
HG04184.hp2
HG04199.hp2
NA18944.hp1
 intron_variant MODIFIER c.-144-12593_-144-12
others(16): Show 
c.-144-12593_-144-12584dupCACACACACA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8669024
chr1:8669024 C
C
 CTGTGTGT
others(5): Show 
CTGTGTGTGTGTG
 11 a0001c0001t0001g0015
a0001c0001t0001g0057
a0001c0001t0001g0062
others(8): Show 
a0001c0001t0001g0015
a0001c0001t0001g0057
a0001c0001t0001g0062
a0001c0001t0001g0076
a0001c0002t0002g0183
a0001c0004t0001g0049
a0001c0010t0007g0026
a0001c0010t0013g0024
a0002c0006t0003g0139
a0003c0008t0001g0006
a0004c0012t0008g0138
 11 HG00609.hp2
HG01169.hp2
HG01361.hp2
others(8): Show 
HG00609.hp2
HG01169.hp2
HG01361.hp2
HG01496.hp2
HG01934.hp2
HG02258.hp1
HG02647.hp2
HG02970.hp1
HG02976.hp2
HG03540.hp2
NA19090.hp1
 intron_variant MODIFIER c.-144-12595_-144-12
others(18): Show 
c.-144-12595_-144-12584dupCACACACACACA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8669024
chr1:8669024 C
C
 CTGTGTGT
others(7): Show 
CTGTGTGTGTGTGTG
 18 a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
others(15): Show 
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0048
a0001c0001t0001g0060
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0077
a0001c0001t0003g0141
a0001c0001t0036g0194
a0001c0003t0004g0007
a0001c0003t0004g0011
a0001c0003t0004g0019
a0001c0003t0011g0112
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0015t0001g0009
 18 HG00140.hp2
HG00597.hp2
HG01168.hp2
others(15): Show 
HG00140.hp2
HG00597.hp2
HG01168.hp2
HG01255.hp1
HG02004.hp2
HG02074.hp2
HG02155.hp1
HG02486.hp2
HG02683.hp1
HG02683.hp2
HG02896.hp1
HG03654.hp2
HG03831.hp2
NA18946.hp1
NA18973.hp1
NA18985.hp2
NA19007.hp1
NA19085.hp2
 intron_variant MODIFIER c.-144-12597_-144-12
others(20): Show 
c.-144-12597_-144-12584dupCACACACACACACA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8669024
chr1:8669024 C
C
 CTGTGTGT
others(9): Show 
CTGTGTGTGTGTGTGTG
 14 a0001c0001t0001g0004
a0001c0001t0001g0037
a0001c0001t0001g0046
others(11): Show 
a0001c0001t0001g0004
a0001c0001t0001g0037
a0001c0001t0001g0046
a0001c0001t0001g0052
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0003g0124
a0001c0003t0004g0078
a0001c0003t0015g0147
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0010t0007g0034
a0004c0012t0008g0137
 14 HG02080.hp1
HG02165.hp2
HG02280.hp2
others(11): Show 
HG02080.hp1
HG02165.hp2
HG02280.hp2
HG02965.hp1
HG03195.hp1
HG03491.hp2
HG03831.hp1
NA18906.hp1
NA18964.hp2
NA18983.hp2
NA19009.hp2
NA19070.hp2
NA19074.hp1
NA20300.hp1
 intron_variant MODIFIER c.-144-12599_-144-12
others(22): Show 
c.-144-12599_-144-12584dupCACACACACACACACA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8669024
chr1:8669024 C
C
 CTGTGTGT
others(11): Show 
CTGTGTGTGTGTGTGTGTG
 8 a0001c0001t0001g0059
a0001c0001t0001g0073
a0001c0003t0004g0017
others(5): Show 
a0001c0001t0001g0059
a0001c0001t0001g0073
a0001c0003t0004g0017
a0001c0003t0004g0021
a0001c0003t0004g0036
a0001c0004t0005g0123
a0002c0026t0008g0140
a0003c0008t0001g0031
 8 HG00140.hp1
HG01192.hp1
HG01261.hp1
others(5): Show 
HG00140.hp1
HG01192.hp1
HG01261.hp1
HG01981.hp1
HG02602.hp2
HG02698.hp1
HG03139.hp1
HG03139.hp2
 intron_variant MODIFIER c.-144-12601_-144-12
others(24): Show 
c.-144-12601_-144-12584dupCACACACACACACACACA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8669024
chr1:8669024 C
C
 CTGTGTGT
others(13): Show 
CTGTGTGTGTGTGTGTGTGTG
 4 a0001c0001t0001g0070
a0001c0003t0004g0012
a0003c0008t0001g0071
others(1): Show 
a0001c0001t0001g0070
a0001c0003t0004g0012
a0003c0008t0001g0071
a0003c0008t0001g0072
 4 HG00544.hp2
HG02647.hp1
HG03041.hp2
others(1): Show 
HG00544.hp2
HG02647.hp1
HG03041.hp2
NA19009.hp1
 intron_variant MODIFIER c.-144-12603_-144-12
others(26): Show 
c.-144-12603_-144-12584dupCACACACACACACACACACA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8669024
chr1:8669024 CTG
CTG
 C
C
 24 a0001c0001t0001g0074
a0001c0001t0003g0093
a0001c0001t0003g0100
others(21): Show 
a0001c0001t0001g0074
a0001c0001t0003g0093
a0001c0001t0003g0100
a0001c0001t0003g0122
a0001c0002t0002g0163
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0033g0186
a0001c0004t0005g0083
a0001c0004t0014g0126
a0001c0004t0027g0106
a0001c0011t0007g0027
a0002c0006t0003g0089
a0009c0021t0003g0135
 24 HG01168.hp1
HG01169.hp1
HG01175.hp2
others(21): Show 
HG01168.hp1
HG01169.hp1
HG01175.hp2
HG01433.hp2
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp2
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02723.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02965.hp2
HG02976.hp1
HG03225.hp1
HG03471.hp2
NA18906.hp2
NA18964.hp1
NA19007.hp2
 intron_variant MODIFIER c.-144-12585_-144-12
others(8): Show 
c.-144-12585_-144-12584delCA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8669024
chr1:8669024 CTGTG
CTGTG
 C
C
 15 a0001c0001t0001g0033
a0001c0001t0037g0196
a0001c0002t0002g0148
others(12): Show 
a0001c0001t0001g0033
a0001c0001t0037g0196
a0001c0002t0002g0148
a0001c0002t0002g0158
a0001c0002t0002g0166
a0001c0002t0002g0177
a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0003t0004g0014
a0001c0004t0005g0079
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0022t0008g0082
a0001c0024t0002g0182
a0002c0006t0003g0094
 15 HG00280.hp2
HG01175.hp1
HG01358.hp1
others(12): Show 
HG00280.hp2
HG01175.hp1
HG01358.hp1
HG01358.hp2
HG01517.hp2
HG01884.hp2
HG02735.hp2
HG02896.hp2
HG03209.hp2
HG03654.hp1
HG04184.hp1
HG04228.hp2
NA19043.hp1
NA19070.hp1
NA19074.hp2
 intron_variant MODIFIER c.-144-12587_-144-12
others(10): Show 
c.-144-12587_-144-12584delCACA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8669024
chr1:8669024 CTGTGTG
CTGTGTG
 C
C
 15 a0001c0001t0003g0115
a0001c0001t0003g0118
a0001c0001t0030g0143
others(12): Show 
a0001c0001t0003g0115
a0001c0001t0003g0118
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0002t0002g0150
a0001c0002t0002g0159
a0001c0002t0002g0187
a0001c0002t0005g0110
a0001c0003t0004g0035
a0001c0003t0008g0085
a0001c0007t0003g0084
a0001c0007t0003g0098
a0002c0006t0003g0090
a0002c0006t0003g0097
a0010c0027t0003g0086
 15 HG00597.hp1
HG00639.hp2
HG01934.hp1
others(12): Show 
HG00597.hp1
HG00639.hp2
HG01934.hp1
HG01981.hp2
HG02155.hp2
HG02165.hp1
HG02523.hp2
HG02723.hp1
HG04228.hp1
NA18944.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA20752.hp1
 intron_variant MODIFIER c.-144-12589_-144-12
others(12): Show 
c.-144-12589_-144-12584delCACACA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8669024
chr1:8669024 CTGTGTGT
others(1): Show 
CTGTGTGTG
 C
C
 15 a0001c0001t0003g0087
a0001c0001t0003g0102
a0001c0001t0003g0104
others(12): Show 
a0001c0001t0003g0087
a0001c0001t0003g0102
a0001c0001t0003g0104
a0001c0001t0016g0054
a0001c0002t0002g0152
a0001c0002t0002g0162
a0001c0002t0002g0179
a0001c0002t0005g0114
a0001c0004t0010g0120
a0001c0004t0022g0121
a0001c0007t0003g0099
a0001c0019t0014g0119
a0002c0006t0003g0091
a0002c0006t0024g0081
a0008c0017t0003g0101
 15 HG00609.hp1
HG01167.hp1
HG02004.hp1
others(12): Show 
HG00609.hp1
HG01167.hp1
HG02004.hp1
HG02257.hp1
HG02293.hp1
HG02559.hp2
HG03195.hp2
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG03688.hp2
NA19002.hp2
NA19005.hp2
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.-144-12591_-144-12
others(14): Show 
c.-144-12591_-144-12584delCACACACA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8669024
chr1:8669024 CTGTGTGT
others(3): Show 
CTGTGTGTGTG
 C
C
 4 a0001c0001t0003g0095
a0001c0001t0003g0117
a0001c0001t0006g0154
others(1): Show 
a0001c0001t0003g0095
a0001c0001t0003g0117
a0001c0001t0006g0154
a0001c0002t0005g0116
 4 HG00639.hp1
NA18973.hp2
NA20129.hp1
others(1): Show 
HG00639.hp1
NA18973.hp2
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.-144-12593_-144-12
others(16): Show 
c.-144-12593_-144-12584delCACACACACA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8669024
chr1:8669024 CTGTGTGT
others(5): Show 
CTGTGTGTGTGTG
 C
C
 1 a0001c0001t0006g0153
a0001c0001t0006g0153
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.-144-12595_-144-12
others(18): Show 
c.-144-12595_-144-12584delCACACACACACA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8669024
chr1:8669024 CTGTGTGT
others(7): Show 
CTGTGTGTGTGTGTG
 C
C
 2 a0001c0002t0002g0164
a0005c0013t0029g0111
a0001c0002t0002g0164
a0005c0013t0029g0111
 2 HG02129.hp1
HG03041.hp1
HG02129.hp1
HG03041.hp1
 intron_variant MODIFIER c.-144-12597_-144-12
others(20): Show 
c.-144-12597_-144-12584delCACACACACACACA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8669024
chr1:8669024 CTGTGTGT
others(9): Show 
CTGTGTGTGTGTGTGTG
 C
C
 4 a0001c0001t0023g0113
a0001c0002t0002g0157
a0001c0002t0032g0155
others(1): Show 
a0001c0001t0023g0113
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 4 HG00544.hp1
HG02622.hp1
HG03130.hp1
others(1): Show 
HG00544.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.-144-12599_-144-12
others(22): Show 
c.-144-12599_-144-12584delCACACACACACACACA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8669024
chr1:8669024 CTGTGTGT
others(11): Show 
CTGTGTGTGTGTGTGTGTG
 C
C
 1 a0001c0004t0010g0142
a0001c0004t0010g0142
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.-144-12601_-144-12
others(24): Show 
c.-144-12601_-144-12584delCACACACACACACACACA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8669024
chr1:8669042 G
G
 C
C
 1 a0001c0001t0023g0113
a0001c0001t0023g0113
 1 HG00544.hp1
HG00544.hp1
 intron_variant MODIFIER c.-144-12601C>G
c.-144-12601C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8669042
chr1:8669077 T
T
 TGTGTGTG
others(6): Show 
TGTGTGTGTGTGTG
 1 a0001c0001t0001g0058
a0001c0001t0001g0058
 1 HG00280.hp1
HG00280.hp1
 intron_variant MODIFIER c.-144-12637_-144-12
others(19): Show 
c.-144-12637_-144-12636insCACACACACACAC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8669077
chr1:8669077 T
T
 TGTGTGTG
others(10): Show 
TGTGTGTGTGTGTGTGTG
 1 a0001c0004t0003g0092
a0001c0004t0003g0092
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.-144-12637_-144-12
others(23): Show 
c.-144-12637_-144-12636insCACACACACACACACAC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8669077
chr1:8669081 G
G
 C
C
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.-144-12640C>G
c.-144-12640C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8669081
chr1:8669108 A
A
 G
G
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.-144-12667T>C
c.-144-12667T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8669108
chr1:8669130 A
A
 G
G
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.-144-12689T>C
c.-144-12689T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8669130
chr1:8669179 A
A
 AC
AC
 20 a0001c0001t0003g0122
a0001c0002t0005g0129
a0001c0002t0005g0130
others(17): Show 
a0001c0001t0003g0122
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0004t0003g0109
a0001c0004t0010g0120
a0001c0004t0022g0121
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0005c0013t0029g0111
a0007c0020t0039g0197
a0009c0021t0003g0135
 20 HG01167.hp1
HG01175.hp2
HG02109.hp1
others(17): Show 
HG01167.hp1
HG01175.hp2
HG02109.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02970.hp2
HG03041.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03516.hp1
HG06807.hp1
NA18906.hp2
NA21309.hp2
 intron_variant MODIFIER c.-144-12739dupG
c.-144-12739dupG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8669179
chr1:8669186 C
C
 CT
CT
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.-144-12746_-144-12
others(7): Show 
c.-144-12746_-144-12745insA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8669186
chr1:8669186 C
C
 G
G
 3 a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0025g0080
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0025g0080
 3 HG01433.hp2
HG02735.hp2
HG04228.hp2
HG01433.hp2
HG02735.hp2
HG04228.hp2
 intron_variant MODIFIER c.-144-12745G>C
c.-144-12745G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8669186
chr1:8669401 T
T
 C
C
 2 a0001c0001t0001g0013
a0001c0001t0003g0141
a0001c0001t0001g0013
a0001c0001t0003g0141
 2 HG01192.hp2
HG02683.hp1
HG01192.hp2
HG02683.hp1
 intron_variant MODIFIER c.-144-12960A>G
c.-144-12960A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8669401
chr1:8669757 T
T
 C
C
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-144-13316A>G
c.-144-13316A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8669757
chr1:8670120 G
G
 A
A
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.-144-13679C>T
c.-144-13679C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8670120
chr1:8670162 T
T
 C
C
 1 a0001c0003t0012g0022
a0001c0003t0012g0022
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.-144-13721A>G
c.-144-13721A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8670162
chr1:8670455 G
G
 C
C
 1 a0001c0002t0005g0125
a0001c0002t0005g0125
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.-144-14014C>G
c.-144-14014C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8670455
chr1:8670521 G
G
 A
A
 2 a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0002g0192
a0001c0002t0002g0193
 2 HG01175.hp1
HG01358.hp1
HG01175.hp1
HG01358.hp1
 intron_variant MODIFIER c.-144-14080C>T
c.-144-14080C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8670521
chr1:8670720 G
G
 A
A
 108 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(105): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0002g0157
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0004t0010g0107
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
a0007c0020t0039g0197
 108 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(105): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-144-14279C>T
c.-144-14279C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8670720
chr1:8670832 T
T
 C
C
 1 a0001c0001t0001g0061
a0001c0001t0001g0061
 1 NA20300.hp1
NA20300.hp1
 intron_variant MODIFIER c.-144-14391A>G
c.-144-14391A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8670832
chr1:8670880 C
C
 CTCTACGA
CTCTACGA
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0019t0014g0119
 6 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(3): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.-144-14440_-144-14
others(13): Show 
c.-144-14440_-144-14439insTCGTAGA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8670880
chr1:8670968 C
C
 T
T
 4 a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
others(1): Show 
a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0005t0026g0127
 4 HG02559.hp1
HG02965.hp2
HG03579.hp2
others(1): Show 
HG02559.hp1
HG02965.hp2
HG03579.hp2
NA21309.hp1
 intron_variant MODIFIER c.-144-14527G>A
c.-144-14527G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8670968
chr1:8671070 G
G
 C
C
 1 a0001c0002t0032g0155
a0001c0002t0032g0155
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.-144-14629C>G
c.-144-14629C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8671070
chr1:8671095 T
T
 C
C
 1 a0001c0001t0001g0013
a0001c0001t0001g0013
 1 HG01192.hp2
HG01192.hp2
 intron_variant MODIFIER c.-144-14654A>G
c.-144-14654A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8671095
chr1:8671102 G
G
 A
A
 1 a0001c0001t0001g0076
a0001c0001t0001g0076
 1 NA19090.hp1
NA19090.hp1
 intron_variant MODIFIER c.-144-14661C>T
c.-144-14661C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8671102
chr1:8671167 G
G
 A
A
 12 a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
others(9): Show 
a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0004t0022g0121
a0009c0021t0003g0135
 12 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(9): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03225.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.-144-14726C>T
c.-144-14726C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8671167
chr1:8671384 C
C
 CAACT
CAACT
 4 a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
others(1): Show 
a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0005t0026g0127
 4 HG02559.hp1
HG02965.hp2
HG03579.hp2
others(1): Show 
HG02559.hp1
HG02965.hp2
HG03579.hp2
NA21309.hp1
 intron_variant MODIFIER c.-144-14947_-144-14
others(10): Show 
c.-144-14947_-144-14944dupAGTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8671384
chr1:8671498 C
C
 G
G
 1 a0001c0016t0020g0001
a0001c0016t0020g0001
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.-144-15057G>C
c.-144-15057G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8671498
chr1:8671603 GT
GT
 G
G
 3 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0019t0014g0119
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0019t0014g0119
 3 HG02886.hp2
HG03195.hp2
HG03453.hp2
HG02886.hp2
HG03195.hp2
HG03453.hp2
 intron_variant MODIFIER c.-144-15163delA
c.-144-15163delA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8671603
chr1:8671638 A
A
 C
C
 1 a0001c0001t0003g0104
a0001c0001t0003g0104
 1 HG00609.hp1
HG00609.hp1
 intron_variant MODIFIER c.-144-15197T>G
c.-144-15197T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8671638
chr1:8671943 C
C
 T
T
 3 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0019t0014g0119
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0019t0014g0119
 3 HG02886.hp2
HG03195.hp2
HG03453.hp2
HG02886.hp2
HG03195.hp2
HG03453.hp2
 intron_variant MODIFIER c.-144-15502G>A
c.-144-15502G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8671943
chr1:8671996 G
G
 A
A
 1 a0001c0001t0001g0013
a0001c0001t0001g0013
 1 HG01192.hp2
HG01192.hp2
 intron_variant MODIFIER c.-144-15555C>T
c.-144-15555C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8671996
chr1:8672084 G
G
 A
A
 2 a0001c0001t0001g0055
a0001c0018t0001g0005
a0001c0001t0001g0055
a0001c0018t0001g0005
 2 HG03688.hp1
HG04199.hp2
HG03688.hp1
HG04199.hp2
 intron_variant MODIFIER c.-144-15643C>T
c.-144-15643C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8672084
chr1:8672129 T
T
 G
G
 1 a0001c0001t0001g0051
a0001c0001t0001g0051
 1 HG02129.hp2
HG02129.hp2
 intron_variant MODIFIER c.-144-15688A>C
c.-144-15688A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8672129
chr1:8672246 T
T
 A
A
 3 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0019t0014g0119
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0019t0014g0119
 3 HG02886.hp2
HG03195.hp2
HG03453.hp2
HG02886.hp2
HG03195.hp2
HG03453.hp2
 intron_variant MODIFIER c.-144-15805A>T
c.-144-15805A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8672246
chr1:8672322 T
T
 A
A
 1 a0001c0002t0018g0002
a0001c0002t0018g0002
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.-144-15881A>T
c.-144-15881A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8672322
chr1:8672395 A
A
 C
C
 90 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(87): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
 90 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(87): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03453.hp1
HG03471.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-144-15954T>G
c.-144-15954T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8672395
chr1:8672842 T
T
 C
C
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.-144-16401A>G
c.-144-16401A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8672842
chr1:8672970 C
C
 T
T
 3 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0019t0014g0119
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0019t0014g0119
 3 HG02886.hp2
HG03195.hp2
HG03453.hp2
HG02886.hp2
HG03195.hp2
HG03453.hp2
 intron_variant MODIFIER c.-144-16529G>A
c.-144-16529G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8672970
chr1:8673069 T
T
 C
C
 110 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(107): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0002g0157
a0001c0002t0002g0161
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0123
a0001c0004t0010g0107
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
a0007c0020t0039g0197
 110 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(107): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-144-16628A>G
c.-144-16628A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8673069
chr1:8673827 G
G
 A
A
 4 a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
others(1): Show 
a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0005t0026g0127
 4 HG02559.hp1
HG02965.hp2
HG03579.hp2
others(1): Show 
HG02559.hp1
HG02965.hp2
HG03579.hp2
NA21309.hp1
 intron_variant MODIFIER c.-144-17386C>T
c.-144-17386C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8673827
chr1:8674038 A
A
 T
T
 1 a0001c0002t0005g0125
a0001c0002t0005g0125
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.-144-17597T>A
c.-144-17597T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8674038
chr1:8674358 A
A
 C
C
 2 a0001c0001t0001g0004
a0001c0001t0001g0064
a0001c0001t0001g0004
a0001c0001t0001g0064
 2 HG00597.hp2
NA19074.hp1
HG00597.hp2
NA19074.hp1
 intron_variant MODIFIER c.-144-17917T>G
c.-144-17917T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8674358
chr1:8674500 G
G
 A
A
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.-144-18059C>T
c.-144-18059C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8674500
chr1:8674609 T
T
 C
C
 9 a0001c0005t0019g0030
a0001c0010t0007g0026
a0001c0010t0007g0034
others(6): Show 
a0001c0005t0019g0030
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0005c0013t0021g0023
a0006c0025t0007g0025
 9 HG02280.hp1
HG02451.hp2
HG02647.hp2
others(6): Show 
HG02280.hp1
HG02451.hp2
HG02647.hp2
HG02723.hp2
HG02809.hp2
HG02965.hp1
HG03130.hp2
HG03471.hp1
HG03540.hp2
 intron_variant MODIFIER c.-144-18168A>G
c.-144-18168A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8674609
chr1:8674687 T
T
 C
C
 1 a0001c0001t0001g0015
a0001c0001t0001g0015
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.-144-18246A>G
c.-144-18246A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8674687
chr1:8675124 T
T
 C
C
 10 a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
others(7): Show 
a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0009c0021t0003g0135
 10 HG01175.hp2
HG01884.hp1
HG02109.hp2
others(7): Show 
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03225.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.-144-18683A>G
c.-144-18683A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8675124
chr1:8675215 TAC
TAC
 T
T
 3 a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0036
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0036
 3 HG02698.hp1
HG03654.hp2
homoSapiens_chm13v2.hp1
HG02698.hp1
HG03654.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-144-18776_-144-18
others(8): Show 
c.-144-18776_-144-18775delGT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8675215
chr1:8675478 G
G
 A
A
 1 a0001c0001t0003g0102
a0001c0001t0003g0102
 1 HG03688.hp2
HG03688.hp2
 intron_variant MODIFIER c.-144-19037C>T
c.-144-19037C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8675478
chr1:8675495 C
C
 CA
CA
 8 a0001c0002t0002g0161
a0001c0002t0002g0172
a0001c0002t0002g0190
others(5): Show 
a0001c0002t0002g0161
a0001c0002t0002g0172
a0001c0002t0002g0190
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
 8 HG01255.hp2
HG01517.hp1
HG02027.hp2
others(5): Show 
HG01255.hp2
HG01517.hp1
HG02027.hp2
HG02109.hp1
HG02257.hp2
HG02818.hp1
HG03209.hp1
HG03516.hp1
 intron_variant MODIFIER c.-144-19055dupT
c.-144-19055dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8675495
chr1:8675495 C
C
 CAA
CAA
 42 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(39): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0018g0002
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0004t0040g0199
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0009t0041g0198
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0007c0020t0039g0197
a0010c0027t0003g0086
 42 HG00544.hp1
HG00597.hp1
HG00609.hp1
others(39): Show 
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02559.hp1
HG02735.hp2
HG02970.hp2
HG03225.hp2
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
HG06807.hp1
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.-144-19056_-144-19
others(8): Show 
c.-144-19056_-144-19055dupTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8675495
chr1:8675495 CA
CA
 C
C
 105 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(102): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0036g0194
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0013g0053
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0027g0106
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0018t0001g0005
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0009c0021t0003g0135
 105 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(102): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01884.hp1
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp2
HG03540.hp2
HG03579.hp1
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp1
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-144-19055delT
c.-144-19055delT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8675495
chr1:8675605 C
C
 T
T
 90 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(87): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
 90 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(87): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03453.hp1
HG03471.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-144-19164G>A
c.-144-19164G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8675605
chr1:8675726 AATACATA
others(21): Show 
AATACATACATATATACATACATACATAC
 A
A
 1 a0001c0001t0006g0184
a0001c0001t0006g0184
 1 NA18944.hp1
NA18944.hp1
 intron_variant MODIFIER c.-144-19313_-144-19
others(34): Show 
c.-144-19313_-144-19286delGTATGTATGTATGTATATATGTAT
GTAT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8675726
chr1:8675738 T
T
 C
C
 2 a0001c0003t0004g0007
a0005c0013t0021g0023
a0001c0003t0004g0007
a0005c0013t0021g0023
 2 HG03471.hp1
HG03654.hp2
HG03471.hp1
HG03654.hp2
 intron_variant MODIFIER c.-144-19297A>G
c.-144-19297A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8675738
chr1:8675738 T
T
 TATAC
TATAC
 56 a0001c0001t0001g0015
a0001c0001t0001g0038
a0001c0001t0001g0051
others(53): Show 
a0001c0001t0001g0015
a0001c0001t0001g0038
a0001c0001t0001g0051
a0001c0001t0001g0055
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0063
a0001c0001t0003g0087
a0001c0001t0003g0117
a0001c0001t0006g0170
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0180
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0028g0133
a0001c0003t0004g0010
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0012g0022
a0001c0003t0017g0032
a0001c0004t0001g0049
a0001c0004t0005g0123
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0022g0121
a0001c0004t0027g0106
a0001c0005t0009g0200
a0001c0005t0009g0204
a0001c0005t0034g0156
a0001c0007t0004g0044
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0014t0002g0191
a0001c0015t0001g0009
a0001c0019t0014g0119
a0002c0006t0003g0139
a0004c0012t0008g0137
a0004c0012t0008g0138
a0008c0017t0003g0101
a0009c0021t0003g0135
 56 HG00140.hp2
HG00280.hp1
HG00609.hp2
others(53): Show 
HG00140.hp2
HG00280.hp1
HG00609.hp2
HG00639.hp1
HG00741.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01255.hp1
HG01255.hp2
HG01361.hp1
HG01361.hp2
HG02004.hp1
HG02080.hp2
HG02129.hp2
HG02145.hp1
HG02257.hp1
HG02258.hp1
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp1
HG02698.hp2
HG02735.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02976.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03491.hp1
HG03516.hp1
HG03579.hp2
HG03669.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp2
NA18906.hp2
NA18939.hp1
NA18964.hp2
NA18973.hp1
NA18973.hp2
NA18993.hp1
NA19043.hp2
NA19070.hp1
NA20752.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-144-19301_-144-19
others(10): Show 
c.-144-19301_-144-19298dupGTAT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8675738
chr1:8675738 T
T
 TATACATA
others(1): Show 
TATACATAC
 25 a0001c0001t0001g0033
a0001c0001t0003g0115
a0001c0001t0003g0118
others(22): Show 
a0001c0001t0001g0033
a0001c0001t0003g0115
a0001c0001t0003g0118
a0001c0001t0023g0113
a0001c0001t0031g0144
a0001c0002t0002g0157
a0001c0002t0002g0163
a0001c0002t0005g0128
a0001c0002t0005g0132
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0078
a0001c0003t0015g0147
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0025g0080
a0001c0005t0026g0127
a0002c0026t0008g0140
a0005c0013t0029g0111
 25 HG00544.hp1
HG00544.hp2
HG00597.hp1
others(22): Show 
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00639.hp2
HG01358.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01981.hp1
HG02109.hp2
HG02280.hp2
HG02451.hp1
HG02523.hp2
HG02559.hp1
HG02698.hp1
HG02735.hp2
HG03041.hp1
HG03130.hp1
HG03579.hp1
HG04228.hp2
NA18946.hp1
NA18993.hp2
NA19009.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.-144-19305_-144-19
others(14): Show 
c.-144-19305_-144-19298dupGTATGTAT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8675738
chr1:8675738 T
T
 TATACATA
others(5): Show 
TATACATACATAC
 2 a0001c0001t0003g0122
a0003c0008t0001g0031
a0001c0001t0003g0122
a0003c0008t0001g0031
 2 HG02145.hp2
HG03139.hp2
HG02145.hp2
HG03139.hp2
 intron_variant MODIFIER c.-144-19309_-144-19
others(18): Show 
c.-144-19309_-144-19298dupGTATGTATGTAT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8675738
chr1:8675738 TATAC
TATAC
 T
T
 4 a0001c0001t0001g0067
a0001c0001t0001g0075
a0001c0001t0037g0196
others(1): Show 
a0001c0001t0001g0067
a0001c0001t0001g0075
a0001c0001t0037g0196
a0001c0007t0004g0047
 4 HG01517.hp2
HG03831.hp2
NA18967.hp1
others(1): Show 
HG01517.hp2
HG03831.hp2
NA18967.hp1
NA19070.hp2
 intron_variant MODIFIER c.-144-19301_-144-19
others(10): Show 
c.-144-19301_-144-19298delGTAT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8675738
chr1:8675738 TATACATA
others(13): Show 
TATACATACATACATACATAC
 T
T
 4 a0001c0001t0001g0048
a0001c0001t0001g0070
a0001c0001t0001g0076
others(1): Show 
a0001c0001t0001g0048
a0001c0001t0001g0070
a0001c0001t0001g0076
a0001c0001t0001g0077
 4 NA19007.hp1
NA19009.hp1
NA19085.hp2
others(1): Show 
NA19007.hp1
NA19009.hp1
NA19085.hp2
NA19090.hp1
 intron_variant MODIFIER c.-144-19317_-144-19
others(26): Show 
c.-144-19317_-144-19298delGTATGTATGTATGTATGTAT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8675738
chr1:8676087 C
C
 T
T
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.-144-19646G>A
c.-144-19646G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8676087
chr1:8676200 G
G
 C
C
 2 a0001c0004t0010g0120
a0001c0004t0022g0121
a0001c0004t0010g0120
a0001c0004t0022g0121
 2 HG01167.hp1
HG02257.hp1
HG01167.hp1
HG02257.hp1
 intron_variant MODIFIER c.-144-19759C>G
c.-144-19759C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8676200
chr1:8676686 A
A
 G
G
 1 a0001c0003t0004g0078
a0001c0003t0004g0078
 1 NA19009.hp2
NA19009.hp2
 intron_variant MODIFIER c.-144-20245T>C
c.-144-20245T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8676686
chr1:8676712 C
C
 T
T
 4 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
others(1): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0019t0014g0119
 4 HG02622.hp1
HG03130.hp1
HG03195.hp2
others(1): Show 
HG02622.hp1
HG03130.hp1
HG03195.hp2
HG03579.hp1
 intron_variant MODIFIER c.-144-20271G>A
c.-144-20271G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8676712
chr1:8676947 T
T
 C
C
 1 a0001c0024t0002g0182
a0001c0024t0002g0182
 1 HG02896.hp2
HG02896.hp2
 intron_variant MODIFIER c.-144-20506A>G
c.-144-20506A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8676947
chr1:8677032 CCT
CCT
 C
C
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.-144-20593_-144-20
others(8): Show 
c.-144-20593_-144-20592delAG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8677032
chr1:8677247 T
T
 C
C
 1 a0001c0004t0040g0199
a0001c0004t0040g0199
 1 HG02970.hp2
HG02970.hp2
 intron_variant MODIFIER c.-144-20806A>G
c.-144-20806A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8677247
chr1:8677300 G
G
 A
A
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-144-20859C>T
c.-144-20859C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8677300
chr1:8677425 C
C
 CA
CA
 14 a0001c0001t0003g0122
a0001c0002t0002g0166
a0001c0002t0002g0174
others(11): Show 
a0001c0001t0003g0122
a0001c0002t0002g0166
a0001c0002t0002g0174
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0004t0022g0121
a0009c0021t0003g0135
 14 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(11): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03225.hp1
HG03471.hp2
NA18906.hp2
NA18946.hp2
NA19070.hp1
 intron_variant MODIFIER c.-144-20985dupT
c.-144-20985dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8677425
chr1:8677425 C
C
 CAAAAAAA
others(24): Show 
CAAAAAAAAAAAAAAAAAGAAAGAAAGAAAAG
 1 a0001c0005t0026g0127
a0001c0005t0026g0127
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.-144-20985_-144-20
others(37): Show 
c.-144-20985_-144-20984insCTTTTCTTTCTTTCTTTTTTTTTT
TTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8677425
chr1:8677425 C
C
 CAAAAAAA
others(52): Show 
CAAAAAAAAAAAAAAAAGAAAGAAAGAAAAGAAAAAAAAAAAAAAAGAAA
GAAAGAAAAG
 1 a0001c0004t0014g0126
a0001c0004t0014g0126
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.-144-20985_-144-20
others(65): Show 
c.-144-20985_-144-20984insCTTTTCTTTCTTTCTTTTTTTTTT
TTTTTCTTTTCTTTCTTTCTTTTTTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8677425
chr1:8677425 C
C
 CAAAAAAA
others(24): Show 
CAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAG
 1 a0001c0002t0018g0002
a0001c0002t0018g0002
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.-144-20985_-144-20
others(37): Show 
c.-144-20985_-144-20984insCTTTTCTTTCTTTCTTTCTTTTTT
TTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8677425
chr1:8677425 CA
CA
 C
C
 98 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(95): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
a0007c0020t0039g0197
 98 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(95): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03453.hp1
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-144-20985delT
c.-144-20985delT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8677425
chr1:8677454 GA
GA
 G
G
 7 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0003t0004g0035
others(4): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0003t0004g0035
a0001c0003t0008g0085
a0001c0004t0001g0003
a0001c0005t0034g0156
a0001c0019t0014g0119
 7 HG00639.hp2
HG01934.hp1
HG02622.hp1
others(4): Show 
HG00639.hp2
HG01934.hp1
HG02622.hp1
HG03130.hp1
HG03195.hp2
HG03579.hp1
HG04184.hp2
 intron_variant MODIFIER c.-144-21014delT
c.-144-21014delT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8677454
chr1:8677597 A
A
 G
G
 1 a0001c0005t0026g0127
a0001c0005t0026g0127
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.-144-21156T>C
c.-144-21156T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8677597
chr1:8677656 A
A
 ACC
ACC
 4 a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
others(1): Show 
a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0005t0026g0127
 4 HG02559.hp1
HG02965.hp2
HG03579.hp2
others(1): Show 
HG02559.hp1
HG02965.hp2
HG03579.hp2
NA21309.hp1
 intron_variant MODIFIER c.-144-21217_-144-21
others(8): Show 
c.-144-21217_-144-21216dupGG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8677656
chr1:8678076 A
A
 G
G
 90 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(87): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
 90 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(87): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03453.hp1
HG03471.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-144-21635T>C
c.-144-21635T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8678076
chr1:8678307 A
A
 G
G
 1 a0001c0001t0001g0046
a0001c0001t0001g0046
 1 HG02165.hp2
HG02165.hp2
 intron_variant MODIFIER c.-144-21866T>C
c.-144-21866T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8678307
chr1:8678416 C
C
 T
T
 1 a0001c0002t0005g0116
a0001c0002t0005g0116
 1 HG00639.hp1
HG00639.hp1
 intron_variant MODIFIER c.-144-21975G>A
c.-144-21975G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8678416
chr1:8678488 C
C
 CA
CA
 53 a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
others(50): Show 
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0002t0032g0155
a0001c0003t0004g0068
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0004t0040g0199
a0001c0005t0034g0156
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0009t0041g0198
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0097
a0002c0006t0024g0081
a0007c0020t0039g0197
a0008c0017t0003g0101
a0010c0027t0003g0086
 53 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(50): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG01167.hp2
HG01169.hp2
HG01261.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02258.hp2
HG02293.hp1
HG02486.hp2
HG02523.hp2
HG02622.hp1
HG02735.hp2
HG02970.hp2
HG03130.hp1
HG03491.hp1
HG03579.hp1
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
HG06807.hp1
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19090.hp2
NA20129.hp1
NA20300.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.-144-22048dupT
c.-144-22048dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8678488
chr1:8678542 G
G
 A
A
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.-144-22101C>T
c.-144-22101C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8678542
chr1:8678578 T
T
 C
C
 3 a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0016t0020g0001
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0016t0020g0001
 3 HG02683.hp2
HG06807.hp2
NA20129.hp2
HG02683.hp2
HG06807.hp2
NA20129.hp2
 intron_variant MODIFIER c.-144-22137A>G
c.-144-22137A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8678578
chr1:8678585 T
T
 TGGGAGGC
others(10): Show 
TGGGAGGCGGAGGTTGCA
 15 a0001c0001t0003g0122
a0001c0002t0005g0110
a0001c0002t0005g0128
others(12): Show 
a0001c0001t0003g0122
a0001c0002t0005g0110
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0004t0022g0121
a0001c0022t0008g0082
a0005c0013t0029g0111
a0009c0021t0003g0135
 15 HG00280.hp2
HG01167.hp1
HG01175.hp2
others(12): Show 
HG00280.hp2
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02723.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03041.hp1
HG03225.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.-144-22161_-144-22
others(23): Show 
c.-144-22161_-144-22145dupTGCAACCTCCGCCTCCC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8678585
chr1:8678585 TGGGAGGC
others(10): Show 
TGGGAGGCGGAGGTTGCA
 T
T
 1 a0002c0006t0003g0090
a0002c0006t0003g0090
 1 HG02165.hp1
HG02165.hp1
 intron_variant MODIFIER c.-144-22161_-144-22
others(23): Show 
c.-144-22161_-144-22145delTGCAACCTCCGCCTCCC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8678585
chr1:8678592 C
C
 T
T
 1 a0008c0017t0003g0101
a0008c0017t0003g0101
 1 NA20905.hp2
NA20905.hp2
 intron_variant MODIFIER c.-144-22151G>A
c.-144-22151G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8678592
chr1:8678632 T
T
 C
C
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.-144-22191A>G
c.-144-22191A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8678632
chr1:8678644 G
G
 A
A
 4 a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
others(1): Show 
a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0005t0026g0127
 4 HG02559.hp1
HG02965.hp2
HG03579.hp2
others(1): Show 
HG02559.hp1
HG02965.hp2
HG03579.hp2
NA21309.hp1
 intron_variant MODIFIER c.-144-22203C>T
c.-144-22203C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8678644
chr1:8678878 C
C
 T
T
 108 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(105): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0002g0157
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0004t0010g0107
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
a0007c0020t0039g0197
 108 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(105): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-144-22437G>A
c.-144-22437G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8678878
chr1:8678885 A
A
 G
G
 109 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(106): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0002g0157
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0123
a0001c0004t0010g0107
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
a0007c0020t0039g0197
 109 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(106): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-144-22444T>C
c.-144-22444T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8678885
chr1:8679143 C
C
 A
A
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.-144-22702G>T
c.-144-22702G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8679143
chr1:8679174 C
C
 A
A
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.-144-22733G>T
c.-144-22733G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8679174
chr1:8679365 G
G
 A
A
 1 a0001c0005t0009g0201
a0001c0005t0009g0201
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.-144-22924C>T
c.-144-22924C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8679365
chr1:8679659 G
G
 A
A
 1 a0001c0002t0002g0177
a0001c0002t0002g0177
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.-144-23218C>T
c.-144-23218C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8679659
chr1:8679923 G
G
 A
A
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.-144-23482C>T
c.-144-23482C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8679923
chr1:8679960 A
A
 G
G
 5 a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
others(2): Show 
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0014t0002g0191
 5 HG01168.hp1
HG01169.hp1
HG01255.hp2
others(2): Show 
HG01168.hp1
HG01169.hp1
HG01255.hp2
HG01361.hp1
HG04228.hp1
 intron_variant MODIFIER c.-144-23519T>C
c.-144-23519T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8679960
chr1:8679966 C
C
 A
A
 1 a0001c0003t0004g0021
a0001c0003t0004g0021
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.-144-23525G>T
c.-144-23525G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8679966
chr1:8680107 A
A
 G
G
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.-144-23666T>C
c.-144-23666T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8680107
chr1:8680452 A
A
 T
T
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.-144-24011T>A
c.-144-24011T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8680452
chr1:8680486 T
T
 G
G
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.-144-24045A>C
c.-144-24045A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8680486
chr1:8680654 A
A
 G
G
 161 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(158): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 161 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(158): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-144-24213T>C
c.-144-24213T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8680654
chr1:8680754 G
G
 C
C
 4 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
others(1): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0019t0014g0119
 4 HG02622.hp1
HG03130.hp1
HG03195.hp2
others(1): Show 
HG02622.hp1
HG03130.hp1
HG03195.hp2
HG03579.hp1
 intron_variant MODIFIER c.-144-24313C>G
c.-144-24313C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8680754
chr1:8680857 G
G
 A
A
 1 a0001c0004t0003g0109
a0001c0004t0003g0109
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.-144-24416C>T
c.-144-24416C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8680857
chr1:8680878 A
A
 G
G
 4 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
others(1): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0019t0014g0119
 4 HG02622.hp1
HG03130.hp1
HG03195.hp2
others(1): Show 
HG02622.hp1
HG03130.hp1
HG03195.hp2
HG03579.hp1
 intron_variant MODIFIER c.-144-24437T>C
c.-144-24437T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8680878
chr1:8680924 C
C
 T
T
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.-144-24483G>A
c.-144-24483G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8680924
chr1:8681064 C
C
 T
T
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.-144-24623G>A
c.-144-24623G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8681064
chr1:8681067 G
G
 C
C
 1 a0001c0002t0002g0183
a0001c0002t0002g0183
 1 HG01934.hp2
HG01934.hp2
 intron_variant MODIFIER c.-144-24626C>G
c.-144-24626C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8681067
chr1:8681342 A
A
 G
G
 90 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(87): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
 90 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(87): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03453.hp1
HG03471.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-144-24901T>C
c.-144-24901T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8681342
chr1:8681379 C
C
 A
A
 38 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(35): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0008c0017t0003g0101
a0010c0027t0003g0086
 38 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(35): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02735.hp2
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.-144-24938G>T
c.-144-24938G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8681379
chr1:8681795 G
G
 A
A
 4 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
others(1): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0019t0014g0119
 4 HG02622.hp1
HG03130.hp1
HG03195.hp2
others(1): Show 
HG02622.hp1
HG03130.hp1
HG03195.hp2
HG03579.hp1
 intron_variant MODIFIER c.-144-25354C>T
c.-144-25354C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8681795
chr1:8681850 G
G
 A
A
 2 a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0012g0018
a0001c0003t0012g0022
 2 HG02622.hp2
NA19043.hp2
HG02622.hp2
NA19043.hp2
 intron_variant MODIFIER c.-144-25409C>T
c.-144-25409C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8681850
chr1:8681889 T
T
 C
C
 1 a0001c0001t0006g0170
a0001c0001t0006g0170
 1 HG02698.hp2
HG02698.hp2
 intron_variant MODIFIER c.-144-25448A>G
c.-144-25448A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8681889
chr1:8682010 C
C
 T
T
 4 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
others(1): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0019t0014g0119
 4 HG02622.hp1
HG03130.hp1
HG03195.hp2
others(1): Show 
HG02622.hp1
HG03130.hp1
HG03195.hp2
HG03579.hp1
 intron_variant MODIFIER c.-144-25569G>A
c.-144-25569G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8682010
chr1:8682139 C
C
 T
T
 1 a0001c0003t0017g0032
a0001c0003t0017g0032
 1 HG04115.hp2
HG04115.hp2
 intron_variant MODIFIER c.-144-25698G>A
c.-144-25698G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8682139
chr1:8682208 T
T
 A
A
 9 a0001c0004t0003g0109
a0001c0004t0040g0199
a0001c0005t0009g0200
others(6): Show 
a0001c0004t0003g0109
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 9 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(6): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
NA21309.hp2
 intron_variant MODIFIER c.-144-25767A>T
c.-144-25767A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8682208
chr1:8682215 T
T
 C
C
 1 a0001c0004t0040g0199
a0001c0004t0040g0199
 1 HG02970.hp2
HG02970.hp2
 intron_variant MODIFIER c.-144-25774A>G
c.-144-25774A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8682215
chr1:8682392 C
C
 T
T
 198 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(195): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0152
a0001c0002t0002g0157
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0002t0033g0186
a0001c0002t0035g0160
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0014t0002g0191
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0001c0023t0002g0175
a0001c0024t0002g0182
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 198 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(195): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp1
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-144-25951G>A
c.-144-25951G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8682392
chr1:8682560 A
A
 C
C
 4 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
others(1): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0019t0014g0119
 4 HG02622.hp1
HG03130.hp1
HG03195.hp2
others(1): Show 
HG02622.hp1
HG03130.hp1
HG03195.hp2
HG03579.hp1
 intron_variant MODIFIER c.-144-26119T>G
c.-144-26119T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8682560
chr1:8682617 A
A
 G
G
 5 a0001c0001t0001g0073
a0001c0001t0001g0074
a0003c0008t0001g0006
others(2): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0003c0008t0001g0006
a0003c0008t0001g0071
a0003c0008t0001g0072
 5 HG02647.hp1
HG02970.hp1
HG02976.hp1
others(2): Show 
HG02647.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03139.hp1
 intron_variant MODIFIER c.-144-26176T>C
c.-144-26176T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8682617
chr1:8682772 A
A
 G
G
 5 a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
others(2): Show 
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
 5 HG02109.hp1
HG02257.hp2
HG02818.hp1
others(2): Show 
HG02109.hp1
HG02257.hp2
HG02818.hp1
HG03209.hp1
HG03516.hp1
 intron_variant MODIFIER c.-144-26331T>C
c.-144-26331T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8682772
chr1:8682923 AACT
AACT
 A
A
 4 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
others(1): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0019t0014g0119
 4 HG02622.hp1
HG03130.hp1
HG03195.hp2
others(1): Show 
HG02622.hp1
HG03130.hp1
HG03195.hp2
HG03579.hp1
 intron_variant MODIFIER c.-144-26485_-144-26
others(9): Show 
c.-144-26485_-144-26483delAGT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8682923
chr1:8683031 C
C
 CA
CA
 75 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(72): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0046
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0122
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0013g0053
a0001c0002t0028g0133
a0001c0002t0035g0160
a0001c0003t0004g0068
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0004t0010g0120
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0005t0019g0030
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0016t0020g0001
a0001c0018t0001g0005
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
 75 HG00140.hp2
HG00280.hp1
HG00597.hp2
others(72): Show 
HG00140.hp2
HG00280.hp1
HG00597.hp2
HG01167.hp1
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01884.hp1
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02080.hp1
HG02109.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03225.hp1
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03540.hp2
HG03669.hp2
HG03688.hp1
HG03831.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp2
NA18944.hp1
NA18964.hp2
NA18967.hp1
NA18985.hp2
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.-144-26591dupT
c.-144-26591dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8683031
chr1:8683031 C
C
 CAA
CAA
 18 a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0045
others(15): Show 
a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0003g0124
a0001c0002t0002g0161
a0001c0003t0004g0011
a0001c0003t0004g0017
a0001c0003t0004g0021
a0001c0003t0008g0105
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0010g0142
a0001c0005t0026g0127
a0001c0007t0001g0008
a0001c0009t0004g0016
a0001c0009t0004g0020
a0009c0021t0003g0135
 18 HG00140.hp1
HG00741.hp2
HG01168.hp2
others(15): Show 
HG00140.hp1
HG00741.hp2
HG01168.hp2
HG01175.hp2
HG01192.hp1
HG01255.hp1
HG02027.hp2
HG02074.hp2
HG03491.hp2
HG03579.hp2
HG03831.hp1
HG04115.hp2
HG04184.hp2
NA18906.hp1
NA18946.hp1
NA19000.hp2
NA19002.hp1
NA21309.hp1
 intron_variant MODIFIER c.-144-26592_-144-26
others(8): Show 
c.-144-26592_-144-26591dupTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8683031
chr1:8683031 C
C
 CAAA
CAAA
 12 a0001c0002t0002g0157
a0001c0002t0018g0002
a0001c0002t0032g0155
others(9): Show 
a0001c0002t0002g0157
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0014
a0001c0003t0004g0019
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0078
a0001c0004t0001g0049
 12 HG00609.hp2
HG00639.hp2
HG01358.hp2
others(9): Show 
HG00609.hp2
HG00639.hp2
HG01358.hp2
HG02559.hp1
HG02698.hp1
HG03130.hp1
HG03579.hp1
HG03654.hp2
NA18939.hp1
NA18973.hp1
NA19009.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-144-26593_-144-26
others(9): Show 
c.-144-26593_-144-26591dupTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8683031
chr1:8683031 CA
CA
 C
C
 39 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(36): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0174
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0005c0013t0029g0111
a0008c0017t0003g0101
a0010c0027t0003g0086
 39 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(36): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00639.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02723.hp1
HG02735.hp2
HG03041.hp1
HG03195.hp2
HG03669.hp1
HG03688.hp2
HG04228.hp2
NA18944.hp2
NA18946.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.-144-26591delT
c.-144-26591delT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8683031
chr1:8683085 A
A
 G
G
 1 a0001c0002t0005g0110
a0001c0002t0005g0110
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.-144-26644T>C
c.-144-26644T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8683085
chr1:8683136 T
T
 G
G
 38 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(35): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0008c0017t0003g0101
a0010c0027t0003g0086
 38 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(35): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02735.hp2
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.-144-26695A>C
c.-144-26695A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8683136
chr1:8683297 C
C
 T
T
 1 a0004c0012t0008g0138
a0004c0012t0008g0138
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.-144-26856G>A
c.-144-26856G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8683297
chr1:8683385 C
C
 T
T
 38 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(35): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0008c0017t0003g0101
a0010c0027t0003g0086
 38 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(35): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02735.hp2
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.-144-26944G>A
c.-144-26944G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8683385
chr1:8683498 C
C
 T
T
 1 a0001c0004t0022g0121
a0001c0004t0022g0121
 1 HG02257.hp1
HG02257.hp1
 intron_variant MODIFIER c.-144-27057G>A
c.-144-27057G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8683498
chr1:8683546 T
T
 A
A
 1 a0001c0002t0033g0186
a0001c0002t0033g0186
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.-144-27105A>T
c.-144-27105A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8683546
chr1:8683651 A
A
 G
G
 105 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(102): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0002g0157
a0001c0002t0002g0161
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0123
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
a0007c0020t0039g0197
 105 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(102): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-144-27210T>C
c.-144-27210T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8683651
chr1:8683771 C
C
 T
T
 1 a0001c0002t0002g0162
a0001c0002t0002g0162
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.-144-27330G>A
c.-144-27330G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8683771
chr1:8683879 T
T
 C
C
 1 a0001c0001t0003g0093
a0001c0001t0003g0093
 1 NA18964.hp1
NA18964.hp1
 intron_variant MODIFIER c.-144-27438A>G
c.-144-27438A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8683879
chr1:8683881 G
G
 A
A
 1 a0008c0017t0003g0101
a0008c0017t0003g0101
 1 NA20905.hp2
NA20905.hp2
 intron_variant MODIFIER c.-144-27440C>T
c.-144-27440C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8683881
chr1:8683910 C
C
 G
G
 1 a0002c0006t0003g0089
a0002c0006t0003g0089
 1 HG02132.hp1
HG02132.hp1
 intron_variant MODIFIER c.-144-27469G>C
c.-144-27469G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8683910
chr1:8684056 C
C
 G
G
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.-144-27615G>C
c.-144-27615G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8684056
chr1:8684250 G
G
 T
T
 1 a0005c0013t0029g0111
a0005c0013t0029g0111
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.-144-27809C>A
c.-144-27809C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8684250
chr1:8684620 A
A
 G
G
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.-144-28179T>C
c.-144-28179T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8684620
chr1:8684842 CCATT
CCATT
 C
C
 158 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(155): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0161
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 158 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(155): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-144-28405_-144-28
others(10): Show 
c.-144-28405_-144-28402delAATG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8684842
chr1:8685008 C
C
 A
A
 1 a0001c0003t0012g0022
a0001c0003t0012g0022
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.-144-28567G>T
c.-144-28567G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8685008
chr1:8685065 T
T
 C
C
 158 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(155): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0161
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 158 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(155): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-144-28624A>G
c.-144-28624A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8685065
chr1:8685241 C
C
 T
T
 1 a0001c0001t0003g0087
a0001c0001t0003g0087
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.-144-28800G>A
c.-144-28800G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8685241
chr1:8685358 A
A
 C
C
 1 a0001c0001t0003g0118
a0001c0001t0003g0118
 1 HG02523.hp2
HG02523.hp2
 intron_variant MODIFIER c.-144-28917T>G
c.-144-28917T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8685358
chr1:8685385 AAAC
AAAC
 A
A
 52 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(49): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0028g0133
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0010g0120
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0005c0013t0029g0111
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 52 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(49): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG01167.hp1
HG01175.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02293.hp1
HG02523.hp2
HG02723.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03041.hp1
HG03225.hp1
HG03471.hp2
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04228.hp2
NA18906.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.-144-28947_-144-28
others(9): Show 
c.-144-28947_-144-28945delGTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8685385
chr1:8685417 C
C
 T
T
 158 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(155): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0161
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 158 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(155): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-144-28976G>A
c.-144-28976G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8685417
chr1:8685427 A
A
 AT
AT
 158 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(155): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0161
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 158 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(155): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-144-28987dupA
c.-144-28987dupA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8685427
chr1:8685607 C
C
 T
T
 1 a0001c0001t0001g0076
a0001c0001t0001g0076
 1 NA19090.hp1
NA19090.hp1
 intron_variant MODIFIER c.-144-29166G>A
c.-144-29166G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8685607
chr1:8685652 T
T
 C
C
 161 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(158): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0002g0161
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 161 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(158): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-144-29211A>G
c.-144-29211A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8685652
chr1:8685748 G
G
 A
A
 7 a0001c0003t0004g0017
a0001c0003t0004g0021
a0001c0003t0008g0105
others(4): Show 
a0001c0003t0004g0017
a0001c0003t0004g0021
a0001c0003t0008g0105
a0001c0003t0017g0032
a0001c0007t0001g0008
a0001c0009t0004g0016
a0001c0009t0004g0020
 7 HG00140.hp1
HG00741.hp2
HG01168.hp2
others(4): Show 
HG00140.hp1
HG00741.hp2
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG03831.hp1
HG04115.hp2
 intron_variant MODIFIER c.-144-29307C>T
c.-144-29307C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8685748
chr1:8685980 AT
AT
 A
A
 29 a0001c0001t0001g0037
a0001c0001t0001g0075
a0001c0001t0030g0143
others(26): Show 
a0001c0001t0001g0037
a0001c0001t0001g0075
a0001c0001t0030g0143
a0001c0002t0002g0180
a0001c0002t0002g0189
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0017g0032
a0001c0004t0005g0123
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0004c0012t0008g0137
 29 HG00140.hp1
HG00544.hp2
HG00741.hp2
others(26): Show 
HG00140.hp1
HG00544.hp2
HG00741.hp2
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG01358.hp2
HG01361.hp2
HG01981.hp1
HG02080.hp2
HG02155.hp2
HG02602.hp2
HG02698.hp1
HG03195.hp1
HG03195.hp2
HG03654.hp2
HG03831.hp1
HG04115.hp2
NA18906.hp1
NA18939.hp1
NA18946.hp1
NA18967.hp1
NA18973.hp1
NA18983.hp1
NA18993.hp1
NA19000.hp1
NA19009.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-144-29540delA
c.-144-29540delA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8685980
chr1:8685980 ATT
ATT
 A
A
 131 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(128): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0161
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0003t0004g0068
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 131 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(128): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG01167.hp1
HG01167.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp2
HG01261.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18964.hp1
NA18964.hp2
NA18973.hp2
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp2
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-144-29541_-144-29
others(8): Show 
c.-144-29541_-144-29540delAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8685980
chr1:8686105 C
C
 T
T
 158 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(155): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 158 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(155): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-144-29664G>A
c.-144-29664G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8686105
chr1:8686139 GCCT
GCCT
 G
G
 3 a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0015t0001g0009
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0015t0001g0009
 3 HG02622.hp2
HG02896.hp1
NA19043.hp2
HG02622.hp2
HG02896.hp1
NA19043.hp2
 intron_variant MODIFIER c.-144-29701_-144-29
others(9): Show 
c.-144-29701_-144-29699delAGG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8686139
chr1:8686143 G
G
 T
T
 3 a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0015t0001g0009
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0015t0001g0009
 3 HG02622.hp2
HG02896.hp1
NA19043.hp2
HG02622.hp2
HG02896.hp1
NA19043.hp2
 intron_variant MODIFIER c.-144-29702C>A
c.-144-29702C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8686143
chr1:8686964 T
T
 C
C
 1 a0001c0001t0001g0051
a0001c0001t0001g0051
 1 HG02129.hp2
HG02129.hp2
 intron_variant MODIFIER c.-144-30523A>G
c.-144-30523A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8686964
chr1:8686982 G
G
 A
A
 1 a0001c0001t0003g0115
a0001c0001t0003g0115
 1 HG00597.hp1
HG00597.hp1
 intron_variant MODIFIER c.-144-30541C>T
c.-144-30541C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8686982
chr1:8687105 G
G
 A
A
 5 a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
others(2): Show 
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0023g0113
a0001c0001t0031g0144
 5 HG00544.hp1
HG00597.hp1
HG02523.hp2
others(2): Show 
HG00544.hp1
HG00597.hp1
HG02523.hp2
NA18973.hp2
NA18993.hp2
 intron_variant MODIFIER c.-144-30664C>T
c.-144-30664C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8687105
chr1:8687243 G
G
 C
C
 1 a0007c0020t0039g0197
a0007c0020t0039g0197
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.-144-30802C>G
c.-144-30802C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8687243
chr1:8687392 G
G
 A
A
 1 a0001c0004t0010g0120
a0001c0004t0010g0120
 1 HG01167.hp1
HG01167.hp1
 intron_variant MODIFIER c.-144-30951C>T
c.-144-30951C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8687392
chr1:8687473 C
C
 T
T
 3 a0001c0002t0002g0165
a0001c0002t0002g0176
a0001c0023t0002g0175
a0001c0002t0002g0165
a0001c0002t0002g0176
a0001c0023t0002g0175
 3 NA18939.hp2
NA18967.hp2
NA19085.hp1
NA18939.hp2
NA18967.hp2
NA19085.hp1
 intron_variant MODIFIER c.-144-31032G>A
c.-144-31032G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8687473
chr1:8687690 C
C
 G
G
 1 a0001c0004t0003g0109
a0001c0004t0003g0109
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.-144-31249G>C
c.-144-31249G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8687690
chr1:8687691 C
C
 G
G
 1 a0001c0004t0003g0109
a0001c0004t0003g0109
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.-144-31250G>C
c.-144-31250G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8687691
chr1:8687903 C
C
 A
A
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.-144-31462G>T
c.-144-31462G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8687903
chr1:8688060 C
C
 T
T
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.-144-31619G>A
c.-144-31619G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8688060
chr1:8688465 G
G
 A
A
 38 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(35): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0008c0017t0003g0101
a0010c0027t0003g0086
 38 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(35): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02735.hp2
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.-144-32024C>T
c.-144-32024C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8688465
chr1:8688484 C
C
 T
T
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.-144-32043G>A
c.-144-32043G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8688484
chr1:8688560 C
C
 CA
CA
 11 a0001c0001t0001g0040
a0001c0001t0006g0181
a0001c0002t0002g0167
others(8): Show 
a0001c0001t0001g0040
a0001c0001t0006g0181
a0001c0002t0002g0167
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 11 HG02109.hp1
HG02145.hp1
HG02155.hp1
others(8): Show 
HG02109.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp2
HG02735.hp1
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG04115.hp1
HG06807.hp1
 intron_variant MODIFIER c.-144-32120dupT
c.-144-32120dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8688560
chr1:8688786 T
T
 C
C
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.-144-32345A>G
c.-144-32345A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8688786
chr1:8688864 T
T
 C
C
 44 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0038
others(41): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0002g0161
a0001c0002t0013g0053
a0001c0003t0004g0068
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0018t0001g0005
a0003c0008t0001g0031
 44 HG00140.hp2
HG00280.hp1
HG00597.hp2
others(41): Show 
HG00140.hp2
HG00280.hp1
HG00597.hp2
HG00609.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01261.hp1
HG01433.hp1
HG01496.hp2
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp2
HG02486.hp2
HG02523.hp1
HG02683.hp1
HG03139.hp2
HG03491.hp2
HG03688.hp1
HG03831.hp2
HG04184.hp2
HG04199.hp2
NA18944.hp1
NA18964.hp2
NA18967.hp1
NA18983.hp2
NA18985.hp2
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.-144-32423A>G
c.-144-32423A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8688864
chr1:8689106 AT
AT
 A
A
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.-144-32666delA
c.-144-32666delA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8689106
chr1:8689284 A
A
 G
G
 1 a0001c0001t0003g0122
a0001c0001t0003g0122
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.-144-32843T>C
c.-144-32843T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8689284
chr1:8689387 A
A
 G
G
 1 a0001c0001t0001g0074
a0001c0001t0001g0074
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.-144-32946T>C
c.-144-32946T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8689387
chr1:8689450 T
T
 A
A
 1 a0001c0002t0005g0114
a0001c0002t0005g0114
 1 HG02004.hp1
HG02004.hp1
 intron_variant MODIFIER c.-144-33009A>T
c.-144-33009A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8689450
chr1:8689496 C
C
 A
A
 1 a0001c0004t0010g0120
a0001c0004t0010g0120
 1 HG01167.hp1
HG01167.hp1
 intron_variant MODIFIER c.-144-33055G>T
c.-144-33055G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8689496
chr1:8689773 G
G
 GA
GA
 11 a0001c0001t0001g0075
a0001c0001t0006g0181
a0001c0004t0003g0109
others(8): Show 
a0001c0001t0001g0075
a0001c0001t0006g0181
a0001c0004t0003g0109
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 11 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(8): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG04115.hp1
HG06807.hp1
NA18967.hp1
NA21309.hp2
 intron_variant MODIFIER c.-144-33333dupT
c.-144-33333dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8689773
chr1:8689790 C
C
 A
A
 1 a0001c0015t0001g0009
a0001c0015t0001g0009
 1 HG02896.hp1
HG02896.hp1
 intron_variant MODIFIER c.-144-33349G>T
c.-144-33349G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8689790
chr1:8690086 C
C
 T
T
 1 a0001c0002t0005g0125
a0001c0002t0005g0125
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.-144-33645G>A
c.-144-33645G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8690086
chr1:8690376 C
C
 T
T
 4 a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
others(1): Show 
a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0005t0026g0127
 4 HG02559.hp1
HG02965.hp2
HG03579.hp2
others(1): Show 
HG02559.hp1
HG02965.hp2
HG03579.hp2
NA21309.hp1
 intron_variant MODIFIER c.-144-33935G>A
c.-144-33935G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8690376
chr1:8690438 T
T
 C
C
 2 a0001c0001t0003g0087
a0001c0002t0006g0145
a0001c0001t0003g0087
a0001c0002t0006g0145
 2 HG03491.hp1
HG03669.hp1
HG03491.hp1
HG03669.hp1
 intron_variant MODIFIER c.-144-33997A>G
c.-144-33997A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8690438
chr1:8690452 C
C
 T
T
 3 a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0062
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0062
 3 HG01167.hp2
HG01169.hp2
HG01496.hp2
HG01167.hp2
HG01169.hp2
HG01496.hp2
 intron_variant MODIFIER c.-144-34011G>A
c.-144-34011G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8690452
chr1:8690532 G
G
 T
T
 158 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(155): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 158 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(155): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-144-34091C>A
c.-144-34091C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8690532
chr1:8690642 A
A
 G
G
 1 a0001c0002t0035g0160
a0001c0002t0035g0160
 1 HG03669.hp2
HG03669.hp2
 intron_variant MODIFIER c.-144-34201T>C
c.-144-34201T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8690642
chr1:8690649 A
A
 G
G
 4 a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
others(1): Show 
a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0005t0026g0127
 4 HG02559.hp1
HG02965.hp2
HG03579.hp2
others(1): Show 
HG02559.hp1
HG02965.hp2
HG03579.hp2
NA21309.hp1
 intron_variant MODIFIER c.-144-34208T>C
c.-144-34208T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8690649
chr1:8690695 G
G
 C
C
 3 a0001c0001t0016g0054
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0001t0016g0054
a0001c0001t0037g0196
a0001c0001t0038g0195
 3 HG01515.hp1
HG01517.hp2
HG02293.hp1
HG01515.hp1
HG01517.hp2
HG02293.hp1
 intron_variant MODIFIER c.-144-34254C>G
c.-144-34254C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8690695
chr1:8690752 C
C
 T
T
 2 a0001c0004t0014g0126
a0001c0005t0026g0127
a0001c0004t0014g0126
a0001c0005t0026g0127
 2 HG02965.hp2
NA21309.hp1
HG02965.hp2
NA21309.hp1
 intron_variant MODIFIER c.-144-34311G>A
c.-144-34311G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8690752
chr1:8690966 C
C
 T
T
 1 a0001c0002t0005g0110
a0001c0002t0005g0110
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.-144-34525G>A
c.-144-34525G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8690966
chr1:8691044 C
C
 T
T
 1 a0002c0006t0003g0097
a0002c0006t0003g0097
 1 NA18944.hp2
NA18944.hp2
 intron_variant MODIFIER c.-144-34603G>A
c.-144-34603G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8691044
chr1:8691087 G
G
 C
C
 158 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(155): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 158 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(155): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-144-34646C>G
c.-144-34646C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8691087
chr1:8691128 C
C
 T
T
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-144-34687G>A
c.-144-34687G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8691128
chr1:8691189 C
C
 T
T
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-144-34748G>A
c.-144-34748G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8691189
chr1:8691191 C
C
 T
T
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.-144-34750G>A
c.-144-34750G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8691191
chr1:8691209 C
C
 T
T
 160 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(157): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0161
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 160 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(157): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-144-34768G>A
c.-144-34768G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8691209
chr1:8691532 A
A
 C
C
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-144-35091T>G
c.-144-35091T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8691532
chr1:8691544 G
G
 A
A
 1 a0001c0004t0040g0199
a0001c0004t0040g0199
 1 HG02970.hp2
HG02970.hp2
 intron_variant MODIFIER c.-144-35103C>T
c.-144-35103C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8691544
chr1:8691557 G
G
 C
C
 2 a0002c0006t0024g0081
a0010c0027t0003g0086
a0002c0006t0024g0081
a0010c0027t0003g0086
 2 NA18985.hp1
NA19005.hp2
NA18985.hp1
NA19005.hp2
 intron_variant MODIFIER c.-144-35116C>G
c.-144-35116C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8691557
chr1:8691657 A
A
 G
G
 5 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(2): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
 5 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(2): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.-144-35216T>C
c.-144-35216T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8691657
chr1:8691838 G
G
 A
A
 36 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(33): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0008c0017t0003g0101
a0010c0027t0003g0086
 36 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(33): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02735.hp2
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18983.hp1
NA18985.hp1
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.-144-35397C>T
c.-144-35397C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8691838
chr1:8691885 C
C
 T
T
 3 a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
 3 HG02145.hp1
HG02970.hp2
HG06807.hp1
HG02145.hp1
HG02970.hp2
HG06807.hp1
 intron_variant MODIFIER c.-144-35444G>A
c.-144-35444G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8691885
chr1:8692344 C
C
 CT
CT
 150 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(147): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0141
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0002g0161
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0031
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0009c0021t0003g0135
a0010c0027t0003g0086
 150 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(147): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-144-35904dupA
c.-144-35904dupA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8692344
chr1:8692355 T
T
 TTC
TTC
 5 a0001c0001t0001g0073
a0001c0001t0001g0074
a0003c0008t0001g0006
others(2): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0003c0008t0001g0006
a0003c0008t0001g0071
a0003c0008t0001g0072
 5 HG02647.hp1
HG02970.hp1
HG02976.hp1
others(2): Show 
HG02647.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03139.hp1
 intron_variant MODIFIER c.-144-35915_-144-35
others(8): Show 
c.-144-35915_-144-35914insGA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8692355
chr1:8692356 C
C
 T
T
 5 a0001c0001t0001g0073
a0001c0001t0001g0074
a0003c0008t0001g0006
others(2): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0003c0008t0001g0006
a0003c0008t0001g0071
a0003c0008t0001g0072
 5 HG02647.hp1
HG02970.hp1
HG02976.hp1
others(2): Show 
HG02647.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03139.hp1
 intron_variant MODIFIER c.-144-35915G>A
c.-144-35915G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8692356
chr1:8692459 G
G
 A
A
 1 a0001c0002t0013g0053
a0001c0002t0013g0053
 1 NA20905.hp1
NA20905.hp1
 intron_variant MODIFIER c.-144-36018C>T
c.-144-36018C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8692459
chr1:8692482 G
G
 A
A
 1 a0001c0002t0002g0192
a0001c0002t0002g0192
 1 HG01175.hp1
HG01175.hp1
 intron_variant MODIFIER c.-144-36041C>T
c.-144-36041C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8692482
chr1:8692649 C
C
 T
T
 2 a0001c0005t0009g0200
a0001c0005t0009g0204
a0001c0005t0009g0200
a0001c0005t0009g0204
 2 HG02818.hp1
HG03516.hp1
HG02818.hp1
HG03516.hp1
 intron_variant MODIFIER c.-144-36208G>A
c.-144-36208G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8692649
chr1:8693100 T
T
 C
C
 2 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0076
a0001c0001t0001g0077
 2 NA19007.hp1
NA19090.hp1
NA19007.hp1
NA19090.hp1
 intron_variant MODIFIER c.-144-36659A>G
c.-144-36659A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8693100
chr1:8693101 A
A
 G
G
 3 a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
 3 HG02145.hp1
HG02970.hp2
HG06807.hp1
HG02145.hp1
HG02970.hp2
HG06807.hp1
 intron_variant MODIFIER c.-144-36660T>C
c.-144-36660T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8693101
chr1:8693158 T
T
 A
A
 1 a0001c0001t0001g0037
a0001c0001t0001g0037
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.-144-36717A>T
c.-144-36717A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8693158
chr1:8693232 A
A
 G
G
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.-144-36791T>C
c.-144-36791T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8693232
chr1:8693354 G
G
 A
A
 12 a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
others(9): Show 
a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0004t0022g0121
a0009c0021t0003g0135
 12 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(9): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03225.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.-144-36913C>T
c.-144-36913C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8693354
chr1:8693620 G
G
 C
C
 1 a0001c0001t0001g0074
a0001c0001t0001g0074
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.-144-37179C>G
c.-144-37179C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8693620
chr1:8693627 T
T
 A
A
 1 a0001c0002t0002g0168
a0001c0002t0002g0168
 1 HG00741.hp1
HG00741.hp1
 intron_variant MODIFIER c.-144-37186A>T
c.-144-37186A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8693627
chr1:8693990 G
G
 C
C
 2 a0001c0001t0001g0033
a0001c0002t0002g0163
a0001c0001t0001g0033
a0001c0002t0002g0163
 2 HG01884.hp2
HG02451.hp1
HG01884.hp2
HG02451.hp1
 intron_variant MODIFIER c.-144-37549C>G
c.-144-37549C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8693990
chr1:8694007 G
G
 A
A
 2 a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0153
a0001c0001t0006g0154
 2 HG03225.hp2
NA20300.hp2
HG03225.hp2
NA20300.hp2
 intron_variant MODIFIER c.-144-37566C>T
c.-144-37566C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8694007
chr1:8694029 C
C
 CA
CA
 39 a0001c0001t0001g0015
a0001c0001t0001g0045
a0001c0001t0001g0069
others(36): Show 
a0001c0001t0001g0015
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0038g0195
a0001c0002t0005g0110
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0078
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0003g0109
a0001c0004t0005g0123
a0001c0004t0040g0199
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0034
a0001c0015t0001g0009
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0026t0008g0140
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0010c0027t0003g0086
 39 HG00140.hp1
HG00544.hp2
HG00639.hp2
others(36): Show 
HG00140.hp1
HG00544.hp2
HG00639.hp2
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG01358.hp2
HG01361.hp2
HG01515.hp1
HG01981.hp1
HG02258.hp1
HG02280.hp2
HG02602.hp2
HG02622.hp2
HG02698.hp1
HG02723.hp1
HG02896.hp1
HG02965.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03195.hp1
HG03471.hp1
HG03654.hp2
HG03831.hp1
HG04115.hp2
NA18939.hp1
NA18944.hp2
NA18946.hp1
NA18973.hp1
NA18985.hp1
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19009.hp2
NA19043.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-144-37589dupT
c.-144-37589dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8694029
chr1:8694029 C
C
 CAA
CAA
 52 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(49): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0002t0002g0167
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0006g0146
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0005t0026g0127
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0016t0020g0001
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0024g0081
a0008c0017t0003g0101
a0009c0021t0003g0135
 52 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(49): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00741.hp2
HG01167.hp1
HG01175.hp2
HG01496.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp2
HG02165.hp1
HG02257.hp1
HG02293.hp1
HG02523.hp2
HG02559.hp1
HG02735.hp1
HG02735.hp2
HG02818.hp2
HG02886.hp1
HG02965.hp2
HG03225.hp1
HG03471.hp2
HG03491.hp1
HG03579.hp2
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
NA18906.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.-144-37590_-144-37
others(8): Show 
c.-144-37590_-144-37589dupTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8694029
chr1:8694029 CA
CA
 C
C
 5 a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
others(2): Show 
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
 5 HG02109.hp1
HG02257.hp2
HG02818.hp1
others(2): Show 
HG02109.hp1
HG02257.hp2
HG02818.hp1
HG03209.hp1
HG03516.hp1
 intron_variant MODIFIER c.-144-37589delT
c.-144-37589delT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8694029
chr1:8694216 T
T
 C
C
 2 a0001c0001t0001g0033
a0001c0002t0002g0163
a0001c0001t0001g0033
a0001c0002t0002g0163
 2 HG01884.hp2
HG02451.hp1
HG01884.hp2
HG02451.hp1
 intron_variant MODIFIER c.-144-37775A>G
c.-144-37775A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8694216
chr1:8694248 A
A
 G
G
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-144-37807T>C
c.-144-37807T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8694248
chr1:8694336 G
G
 T
T
 1 a0001c0001t0001g0038
a0001c0001t0001g0038
 1 HG02523.hp1
HG02523.hp1
 intron_variant MODIFIER c.-144-37895C>A
c.-144-37895C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8694336
chr1:8694525 T
T
 C
C
 13 a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
others(10): Show 
a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0018g0002
a0001c0004t0010g0120
a0001c0004t0022g0121
a0001c0016t0020g0001
a0009c0021t0003g0135
 13 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(10): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02559.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03225.hp1
HG03471.hp2
NA20129.hp2
 intron_variant MODIFIER c.-144-38084A>G
c.-144-38084A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8694525
chr1:8694651 C
C
 T
T
 1 a0001c0001t0003g0124
a0001c0001t0003g0124
 1 HG03491.hp2
HG03491.hp2
 intron_variant MODIFIER c.-144-38210G>A
c.-144-38210G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8694651
chr1:8694791 G
G
 A
A
 1 a0002c0006t0003g0139
a0002c0006t0003g0139
 1 HG01361.hp2
HG01361.hp2
 intron_variant MODIFIER c.-144-38350C>T
c.-144-38350C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8694791
chr1:8694810 T
T
 C
C
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.-144-38369A>G
c.-144-38369A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8694810
chr1:8694915 G
G
 A
A
 15 a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
others(12): Show 
a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0022g0121
a0001c0016t0020g0001
a0009c0021t0003g0135
 15 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(12): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02559.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03225.hp1
HG03471.hp2
HG03579.hp2
NA18906.hp2
NA20129.hp2
 intron_variant MODIFIER c.-144-38474C>T
c.-144-38474C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8694915
chr1:8694973 A
A
 AG
AG
 17 a0001c0001t0006g0153
a0001c0002t0002g0148
a0001c0002t0002g0149
others(14): Show 
a0001c0001t0006g0153
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0165
a0001c0002t0002g0169
a0001c0002t0002g0173
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0192
a0001c0002t0005g0110
a0001c0005t0009g0203
a0003c0008t0001g0071
a0007c0020t0039g0197
 17 HG01175.hp1
HG01934.hp2
HG02027.hp2
others(14): Show 
HG01175.hp1
HG01934.hp2
HG02027.hp2
HG02080.hp2
HG02132.hp2
HG02451.hp1
HG02559.hp2
HG02602.hp1
HG02723.hp1
HG03041.hp2
HG03209.hp1
HG03225.hp2
HG03516.hp2
HG04184.hp1
HG04199.hp1
HG06807.hp1
NA19085.hp1
 intron_variant MODIFIER c.-144-38533dupC
c.-144-38533dupC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8694973
chr1:8694973 A
A
 AGG
AGG
 37 a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0040
others(34): Show 
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0036g0194
a0001c0002t0002g0158
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0134
a0001c0002t0013g0053
a0001c0002t0033g0186
a0001c0003t0004g0011
a0001c0003t0004g0014
a0001c0003t0004g0041
a0001c0003t0004g0068
a0001c0003t0012g0022
a0001c0004t0040g0199
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0011t0007g0027
a0001c0015t0001g0009
a0003c0008t0001g0006
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
 37 HG00280.hp1
HG00597.hp2
HG01167.hp2
others(34): Show 
HG00280.hp1
HG00597.hp2
HG01167.hp2
HG01168.hp2
HG01358.hp2
HG01884.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02486.hp1
HG02647.hp1
HG02723.hp2
HG02818.hp2
HG02896.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03139.hp1
HG03195.hp1
HG03453.hp1
HG03491.hp2
HG03654.hp1
HG03831.hp2
NA18906.hp1
NA18939.hp1
NA18946.hp1
NA18983.hp2
NA18985.hp2
NA19007.hp1
NA19043.hp2
NA19085.hp2
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.-144-38534_-144-38
others(8): Show 
c.-144-38534_-144-38533dupCC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8694973
chr1:8694973 A
A
 AGGG
AGGG
 47 a0001c0001t0001g0013
a0001c0001t0001g0033
a0001c0001t0001g0038
others(44): Show 
a0001c0001t0001g0013
a0001c0001t0001g0033
a0001c0001t0001g0038
a0001c0001t0001g0043
a0001c0001t0001g0050
a0001c0001t0001g0055
a0001c0001t0001g0057
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0076
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0002t0002g0176
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0136
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0003t0004g0012
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0042
a0001c0003t0004g0078
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0005t0009g0201
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0011t0007g0029
a0001c0018t0001g0005
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0031
a0009c0021t0003g0135
 47 HG00140.hp2
HG00544.hp2
HG00609.hp2
others(44): Show 
HG00140.hp2
HG00544.hp2
HG00609.hp2
HG00639.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01884.hp2
HG01981.hp1
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp2
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02683.hp1
HG02809.hp1
HG02886.hp1
HG03139.hp2
HG03225.hp1
HG03471.hp2
HG03688.hp1
HG03831.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
NA18906.hp2
NA18944.hp1
NA18964.hp2
NA18967.hp2
NA18993.hp1
NA19000.hp2
NA19005.hp1
NA19009.hp1
NA19009.hp2
NA19070.hp2
NA19090.hp1
 intron_variant MODIFIER c.-144-38535_-144-38
others(9): Show 
c.-144-38535_-144-38533dupCCC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8694973
chr1:8694973 A
A
 AGGGG
AGGGG
 24 a0001c0001t0001g0004
a0001c0001t0001g0039
a0001c0001t0001g0059
others(21): Show 
a0001c0001t0001g0004
a0001c0001t0001g0039
a0001c0001t0001g0059
a0001c0001t0001g0075
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0036
a0001c0003t0011g0108
a0001c0003t0012g0018
a0001c0004t0010g0120
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0005t0026g0127
a0001c0010t0007g0026
a0001c0010t0013g0024
a0001c0011t0007g0028
a0001c0016t0020g0001
a0001c0019t0014g0119
a0005c0013t0021g0023
a0006c0025t0007g0025
 24 HG00140.hp1
HG01167.hp1
HG01261.hp1
others(21): Show 
HG00140.hp1
HG01167.hp1
HG01261.hp1
HG02004.hp2
HG02257.hp1
HG02451.hp2
HG02622.hp2
HG02647.hp2
HG02698.hp1
HG02809.hp2
HG02965.hp2
HG03130.hp1
HG03195.hp2
HG03471.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp2
HG06807.hp2
NA18967.hp1
NA18973.hp1
NA19074.hp1
NA20129.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-144-38536_-144-38
others(10): Show 
c.-144-38536_-144-38533dupCCCC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8694973
chr1:8694977 G
G
 GGGGA
GGGGA
 40 a0001c0001t0001g0045
a0001c0001t0003g0087
a0001c0001t0003g0088
others(37): Show 
a0001c0001t0001g0045
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0008c0017t0003g0101
a0010c0027t0003g0086
 40 HG00280.hp2
HG00544.hp1
HG00609.hp1
others(37): Show 
HG00280.hp2
HG00544.hp1
HG00609.hp1
HG00639.hp1
HG00741.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02735.hp2
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.-144-38537_-144-38
others(10): Show 
c.-144-38537_-144-38536insTCCC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8694977
chr1:8695121 AC
AC
 A
A
 18 a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
others(15): Show 
a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0005t0026g0127
a0001c0016t0020g0001
a0001c0019t0014g0119
a0009c0021t0003g0135
 18 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(15): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02559.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02965.hp2
HG03195.hp2
HG03225.hp1
HG03471.hp2
HG03579.hp2
NA18906.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.-144-38681delG
c.-144-38681delG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8695121
chr1:8695155 A
A
 G
G
 9 a0001c0005t0019g0030
a0001c0010t0007g0026
a0001c0010t0007g0034
others(6): Show 
a0001c0005t0019g0030
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0005c0013t0021g0023
a0006c0025t0007g0025
 9 HG02280.hp1
HG02451.hp2
HG02647.hp2
others(6): Show 
HG02280.hp1
HG02451.hp2
HG02647.hp2
HG02723.hp2
HG02809.hp2
HG02965.hp1
HG03130.hp2
HG03471.hp1
HG03540.hp2
 intron_variant MODIFIER c.-144-38714T>C
c.-144-38714T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8695155
chr1:8695178 T
T
 C
C
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-144-38737A>G
c.-144-38737A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8695178
chr1:8695223 A
A
 G
G
 5 a0001c0001t0001g0073
a0001c0001t0001g0074
a0003c0008t0001g0006
others(2): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0003c0008t0001g0006
a0003c0008t0001g0071
a0003c0008t0001g0072
 5 HG02647.hp1
HG02970.hp1
HG02976.hp1
others(2): Show 
HG02647.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03139.hp1
 intron_variant MODIFIER c.-144-38782T>C
c.-144-38782T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8695223
chr1:8695259 C
C
 G
G
 1 a0001c0002t0018g0002
a0001c0002t0018g0002
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.-144-38818G>C
c.-144-38818G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8695259
chr1:8695302 G
G
 GT
GT
 3 a0001c0001t0016g0054
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0001t0016g0054
a0001c0001t0037g0196
a0001c0001t0038g0195
 3 HG01515.hp1
HG01517.hp2
HG02293.hp1
HG01515.hp1
HG01517.hp2
HG02293.hp1
 intron_variant MODIFIER c.-144-38862dupA
c.-144-38862dupA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8695302
chr1:8695424 T
T
 A
A
 3 a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0025g0080
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0025g0080
 3 HG01433.hp2
HG02735.hp2
HG04228.hp2
HG01433.hp2
HG02735.hp2
HG04228.hp2
 intron_variant MODIFIER c.-144-38983A>T
c.-144-38983A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8695424
chr1:8695487 T
T
 C
C
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.-144-39046A>G
c.-144-39046A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8695487
chr1:8695558 T
T
 C
C
 1 a0001c0007t0001g0008
a0001c0007t0001g0008
 1 HG03831.hp1
HG03831.hp1
 intron_variant MODIFIER c.-144-39117A>G
c.-144-39117A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8695558
chr1:8695558 TG
TG
 T
T
 2 a0001c0001t0001g0033
a0001c0002t0002g0163
a0001c0001t0001g0033
a0001c0002t0002g0163
 2 HG01884.hp2
HG02451.hp1
HG01884.hp2
HG02451.hp1
 intron_variant MODIFIER c.-144-39118delC
c.-144-39118delC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8695558
chr1:8695587 T
T
 TA
TA
 48 a0001c0001t0001g0033
a0001c0001t0003g0087
a0001c0001t0003g0088
others(45): Show 
a0001c0001t0001g0033
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0102
a0001c0001t0003g0117
a0001c0001t0016g0054
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0158
a0001c0002t0002g0162
a0001c0002t0002g0164
a0001c0002t0002g0174
a0001c0002t0002g0190
a0001c0002t0002g0193
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0002t0018g0002
a0001c0002t0035g0160
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0041
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0017g0032
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0006g0146
a0001c0004t0010g0142
a0001c0004t0025g0080
a0001c0005t0026g0127
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0099
a0001c0019t0014g0119
a0001c0022t0008g0082
a0001c0024t0002g0182
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0024g0081
a0003c0008t0001g0006
a0004c0012t0008g0137
 48 HG00140.hp1
HG00280.hp2
HG00639.hp1
others(45): Show 
HG00140.hp1
HG00280.hp2
HG00639.hp1
HG00741.hp2
HG01255.hp2
HG01358.hp1
HG01358.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01934.hp1
HG02004.hp1
HG02129.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02559.hp1
HG02559.hp2
HG02735.hp2
HG02896.hp2
HG02970.hp1
HG03195.hp1
HG03195.hp2
HG03491.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03831.hp1
HG04115.hp2
HG04228.hp2
NA18939.hp1
NA18946.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18993.hp2
NA19002.hp2
NA19005.hp2
NA19009.hp2
NA19043.hp1
NA20129.hp1
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-144-39147dupT
c.-144-39147dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8695587
chr1:8695587 T
T
 TAA
TAA
 16 a0001c0001t0003g0100
a0001c0001t0003g0103
a0001c0001t0003g0104
others(13): Show 
a0001c0001t0003g0100
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0006g0181
a0001c0003t0004g0012
a0001c0003t0011g0096
a0001c0004t0040g0199
a0001c0005t0009g0202
a0001c0005t0009g0204
a0001c0007t0003g0098
a0001c0016t0020g0001
a0002c0006t0003g0094
a0002c0006t0003g0097
a0005c0013t0029g0111
a0007c0020t0039g0197
a0008c0017t0003g0101
 16 HG00544.hp2
HG00609.hp1
HG02074.hp1
others(13): Show 
HG00544.hp2
HG00609.hp1
HG02074.hp1
HG02109.hp1
HG02818.hp1
HG02970.hp2
HG03041.hp1
HG04115.hp1
HG06807.hp1
NA18944.hp2
NA19000.hp1
NA19007.hp2
NA19074.hp2
NA19090.hp2
NA20129.hp2
NA20905.hp2
 intron_variant MODIFIER c.-144-39148_-144-39
others(8): Show 
c.-144-39148_-144-39147dupTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8695587
chr1:8695587 TA
TA
 T
T
 31 a0001c0001t0001g0004
a0001c0001t0001g0038
a0001c0001t0001g0040
others(28): Show 
a0001c0001t0001g0004
a0001c0001t0001g0038
a0001c0001t0001g0040
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0011
a0001c0003t0011g0108
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0018t0001g0005
a0001c0023t0002g0175
a0003c0008t0001g0071
 31 HG00280.hp1
HG00597.hp2
HG00609.hp2
others(28): Show 
HG00280.hp1
HG00597.hp2
HG00609.hp2
HG01167.hp2
HG01169.hp2
HG01433.hp1
HG01496.hp2
HG02080.hp1
HG02155.hp1
HG02165.hp2
HG02523.hp1
HG02683.hp1
HG02976.hp1
HG03041.hp2
HG03453.hp1
HG03491.hp2
HG03688.hp1
HG04184.hp2
HG06807.hp2
NA18939.hp2
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18985.hp2
NA19007.hp1
NA19009.hp1
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.-144-39147delT
c.-144-39147delT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8695587
chr1:8695694 A
A
 T
T
 4 a0001c0001t0001g0073
a0003c0008t0001g0006
a0003c0008t0001g0071
others(1): Show 
a0001c0001t0001g0073
a0003c0008t0001g0006
a0003c0008t0001g0071
a0003c0008t0001g0072
 4 HG02647.hp1
HG02970.hp1
HG03041.hp2
others(1): Show 
HG02647.hp1
HG02970.hp1
HG03041.hp2
HG03139.hp1
 intron_variant MODIFIER c.-144-39253T>A
c.-144-39253T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8695694
chr1:8695859 A
A
 G
G
 5 a0001c0004t0005g0123
a0002c0006t0003g0139
a0002c0026t0008g0140
others(2): Show 
a0001c0004t0005g0123
a0002c0006t0003g0139
a0002c0026t0008g0140
a0004c0012t0008g0137
a0004c0012t0008g0138
 5 HG01361.hp2
HG01981.hp1
HG02602.hp2
others(2): Show 
HG01361.hp2
HG01981.hp1
HG02602.hp2
HG02976.hp2
HG03195.hp1
 intron_variant MODIFIER c.-144-39418T>C
c.-144-39418T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8695859
chr1:8695971 T
T
 C
C
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.-144-39530A>G
c.-144-39530A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8695971
chr1:8696005 G
G
 GATGCAAA
others(5): Show 
GATGCAAATCAAA
 1 a0001c0003t0004g0078
a0001c0003t0004g0078
 1 NA19009.hp2
NA19009.hp2
 intron_variant MODIFIER c.-144-39576_-144-39
others(18): Show 
c.-144-39576_-144-39565dupTTTGATTTGCAT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8696005
chr1:8696557 T
T
 C
C
 4 a0001c0002t0005g0110
a0001c0004t0003g0109
a0001c0004t0014g0126
others(1): Show 
a0001c0002t0005g0110
a0001c0004t0003g0109
a0001c0004t0014g0126
a0005c0013t0029g0111
 4 HG02723.hp1
HG02965.hp2
HG03041.hp1
others(1): Show 
HG02723.hp1
HG02965.hp2
HG03041.hp1
NA21309.hp2
 intron_variant MODIFIER c.-144-40116A>G
c.-144-40116A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8696557
chr1:8696636 G
G
 A
A
 3 a0001c0002t0005g0110
a0001c0004t0003g0109
a0005c0013t0029g0111
a0001c0002t0005g0110
a0001c0004t0003g0109
a0005c0013t0029g0111
 3 HG02723.hp1
HG03041.hp1
NA21309.hp2
HG02723.hp1
HG03041.hp1
NA21309.hp2
 intron_variant MODIFIER c.-144-40195C>T
c.-144-40195C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8696636
chr1:8696802 C
C
 G
G
 1 a0001c0002t0006g0145
a0001c0002t0006g0145
 1 HG03491.hp1
HG03491.hp1
 intron_variant MODIFIER c.-144-40361G>C
c.-144-40361G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8696802
chr1:8696946 CA
CA
 C
C
 60 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(57): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0005t0026g0127
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0016t0020g0001
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0003c0008t0001g0031
a0005c0013t0029g0111
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 60 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(57): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00741.hp2
HG01167.hp1
HG01175.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02293.hp1
HG02523.hp2
HG02559.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02965.hp2
HG03041.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp1
HG03471.hp2
HG03491.hp1
HG03579.hp2
HG03669.hp1
HG03688.hp2
HG04228.hp2
NA18906.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-144-40506delT
c.-144-40506delT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8696946
chr1:8697027 C
C
 T
T
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-144-40586G>A
c.-144-40586G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8697027
chr1:8697083 T
T
 C
C
 1 a0001c0003t0008g0105
a0001c0003t0008g0105
 1 HG00741.hp2
HG00741.hp2
 intron_variant MODIFIER c.-144-40642A>G
c.-144-40642A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8697083
chr1:8697390 A
A
 C
C
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.-144-40949T>G
c.-144-40949T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8697390
chr1:8697396 CT
CT
 C
C
 5 a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
others(2): Show 
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
 5 HG02109.hp1
HG02257.hp2
HG02818.hp1
others(2): Show 
HG02109.hp1
HG02257.hp2
HG02818.hp1
HG03209.hp1
HG03516.hp1
 intron_variant MODIFIER c.-144-40956delA
c.-144-40956delA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8697396
chr1:8697417 G
G
 A
A
 1 a0001c0002t0002g0165
a0001c0002t0002g0165
 1 NA19085.hp1
NA19085.hp1
 intron_variant MODIFIER c.-144-40976C>T
c.-144-40976C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8697417
chr1:8697690 C
C
 T
T
 2 a0002c0006t0003g0090
a0002c0006t0003g0097
a0002c0006t0003g0090
a0002c0006t0003g0097
 2 HG02165.hp1
NA18944.hp2
HG02165.hp1
NA18944.hp2
 intron_variant MODIFIER c.-144-41249G>A
c.-144-41249G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8697690
chr1:8698310 CTGTCATT
others(1): Show 
CTGTCATTT
 C
C
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.-144-41877_-144-41
others(14): Show 
c.-144-41877_-144-41870delAAATGACA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8698310
chr1:8698540 C
C
 T
T
 2 a0001c0002t0005g0110
a0005c0013t0029g0111
a0001c0002t0005g0110
a0005c0013t0029g0111
 2 HG02723.hp1
HG03041.hp1
HG02723.hp1
HG03041.hp1
 intron_variant MODIFIER c.-144-42099G>A
c.-144-42099G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8698540
chr1:8698597 A
A
 G
G
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.-144-42156T>C
c.-144-42156T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8698597
chr1:8698735 C
C
 A
A
 88 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(85): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0018t0001g0005
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
 88 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(85): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03453.hp1
HG03471.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-144-42294G>T
c.-144-42294G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8698735
chr1:8699029 G
G
 A
A
 2 a0001c0001t0003g0102
a0001c0005t0026g0127
a0001c0001t0003g0102
a0001c0005t0026g0127
 2 HG03688.hp2
NA21309.hp1
HG03688.hp2
NA21309.hp1
 intron_variant MODIFIER c.-144-42588C>T
c.-144-42588C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8699029
chr1:8699152 G
G
 A
A
 5 a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
others(2): Show 
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
 5 HG02109.hp1
HG02257.hp2
HG02818.hp1
others(2): Show 
HG02109.hp1
HG02257.hp2
HG02818.hp1
HG03209.hp1
HG03516.hp1
 intron_variant MODIFIER c.-144-42711C>T
c.-144-42711C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8699152
chr1:8699278 CCCAGGTA
others(72): Show 
CCCAGGTATCACAGTGAGTAAGTGGTAAACTAAGAATAGAACTCAAACTC
AGACAGCCTAACTATTTACCACTACGCTGT
 C
C
 2 a0001c0002t0002g0149
a0001c0002t0035g0160
a0001c0002t0002g0149
a0001c0002t0035g0160
 2 HG02602.hp1
HG03669.hp2
HG02602.hp1
HG03669.hp2
 intron_variant MODIFIER c.-144-42916_-144-42
others(85): Show 
c.-144-42916_-144-42838delACAGCGTAGTGGTAAATAGTTAGG
CTGTCTGAGTTTGAGTTCTATTCTTAGTTTACCACTTACTCACTGTGATA
CCTGG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8699278
chr1:8699358 A
A
 T
T
 2 a0001c0002t0002g0149
a0001c0002t0035g0160
a0001c0002t0002g0149
a0001c0002t0035g0160
 2 HG02602.hp1
HG03669.hp2
HG02602.hp1
HG03669.hp2
 intron_variant MODIFIER c.-144-42917T>A
c.-144-42917T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8699358
chr1:8699475 T
T
 G
G
 1 a0001c0001t0003g0087
a0001c0001t0003g0087
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.-144-43034A>C
c.-144-43034A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8699475
chr1:8699495 T
T
 C
C
 51 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0038
others(48): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0036g0194
a0001c0002t0002g0161
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0068
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0018t0001g0005
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
 51 HG00140.hp2
HG00280.hp1
HG00597.hp2
others(48): Show 
HG00140.hp2
HG00280.hp1
HG00597.hp2
HG00609.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01261.hp1
HG01433.hp1
HG01496.hp2
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp2
HG02293.hp1
HG02486.hp2
HG02523.hp1
HG02647.hp1
HG02683.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03453.hp1
HG03491.hp2
HG03688.hp1
HG03831.hp2
HG04184.hp2
HG04199.hp2
NA18944.hp1
NA18964.hp2
NA18967.hp1
NA18983.hp2
NA18985.hp2
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.-144-43054A>G
c.-144-43054A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8699495
chr1:8699648 G
G
 A
A
 1 a0001c0001t0001g0033
a0001c0001t0001g0033
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.-144-43207C>T
c.-144-43207C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8699648
chr1:8699792 C
C
 T
T
 1 a0001c0009t0041g0198
a0001c0009t0041g0198
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.-144-43351G>A
c.-144-43351G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8699792
chr1:8699896 C
C
 T
T
 1 a0001c0001t0001g0074
a0001c0001t0001g0074
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.-144-43455G>A
c.-144-43455G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8699896
chr1:8700146 A
A
 C
C
 1 a0001c0024t0002g0182
a0001c0024t0002g0182
 1 HG02896.hp2
HG02896.hp2
 intron_variant MODIFIER c.-144-43705T>G
c.-144-43705T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8700146
chr1:8700157 T
T
 G
G
 1 a0001c0004t0010g0142
a0001c0004t0010g0142
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.-144-43716A>C
c.-144-43716A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8700157
chr1:8700170 T
T
 C
C
 1 a0003c0008t0001g0031
a0003c0008t0001g0031
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.-144-43729A>G
c.-144-43729A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8700170
chr1:8700177 C
C
 T
T
 1 a0005c0013t0021g0023
a0005c0013t0021g0023
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.-144-43736G>A
c.-144-43736G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8700177
chr1:8700815 G
G
 T
T
 1 a0001c0004t0003g0109
a0001c0004t0003g0109
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.-144-44374C>A
c.-144-44374C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8700815
chr1:8701149 T
T
 A
A
 1 a0001c0014t0002g0191
a0001c0014t0002g0191
 1 HG01361.hp1
HG01361.hp1
 intron_variant MODIFIER c.-144-44708A>T
c.-144-44708A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8701149
chr1:8701197 G
G
 T
T
 1 a0003c0008t0001g0031
a0003c0008t0001g0031
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.-144-44756C>A
c.-144-44756C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8701197
chr1:8701243 G
G
 A
A
 163 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(160): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 163 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(160): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-144-44802C>T
c.-144-44802C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8701243
chr1:8701254 T
T
 C
C
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-144-44813A>G
c.-144-44813A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8701254
chr1:8701283 G
G
 A
A
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.-144-44842C>T
c.-144-44842C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8701283
chr1:8701287 T
T
 TAC
TAC
 12 a0001c0001t0003g0087
a0001c0001t0003g0102
a0001c0001t0037g0196
others(9): Show 
a0001c0001t0003g0087
a0001c0001t0003g0102
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0148
a0001c0002t0002g0159
a0001c0002t0002g0167
a0001c0002t0002g0177
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0007t0003g0099
a0001c0014t0002g0191
 12 HG01361.hp1
HG01515.hp1
HG01517.hp2
others(9): Show 
HG01361.hp1
HG01515.hp1
HG01517.hp2
HG02735.hp1
HG02886.hp2
HG03209.hp2
HG03453.hp2
HG03669.hp1
HG03688.hp2
HG04184.hp1
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.-144-44848_-144-44
others(8): Show 
c.-144-44848_-144-44847dupGT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8701287
chr1:8701287 T
T
 TACAC
TACAC
 10 a0001c0001t0003g0088
a0001c0001t0003g0100
a0001c0001t0003g0103
others(7): Show 
a0001c0001t0003g0088
a0001c0001t0003g0100
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0016g0054
a0001c0003t0008g0085
a0001c0003t0011g0096
a0002c0006t0003g0089
a0002c0006t0003g0094
a0008c0017t0003g0101
 10 HG00609.hp1
HG01496.hp1
HG01934.hp1
others(7): Show 
HG00609.hp1
HG01496.hp1
HG01934.hp1
HG02074.hp1
HG02132.hp1
HG02293.hp1
NA19007.hp2
NA19074.hp2
NA19090.hp2
NA20905.hp2
 intron_variant MODIFIER c.-144-44850_-144-44
others(10): Show 
c.-144-44850_-144-44847dupGTGT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8701287
chr1:8701287 T
T
 TACACACA
others(3): Show 
TACACACACAC
 2 a0001c0002t0002g0149
a0001c0002t0035g0160
a0001c0002t0002g0149
a0001c0002t0035g0160
 2 HG02602.hp1
HG03669.hp2
HG02602.hp1
HG03669.hp2
 intron_variant MODIFIER c.-144-44856_-144-44
others(16): Show 
c.-144-44856_-144-44847dupGTGTGTGTGT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8701287
chr1:8701287 T
T
 TACACACA
others(5): Show 
TACACACACACAC
 1 a0001c0002t0002g0164
a0001c0002t0002g0164
 1 HG02129.hp1
HG02129.hp1
 intron_variant MODIFIER c.-144-44858_-144-44
others(18): Show 
c.-144-44858_-144-44847dupGTGTGTGTGTGT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8701287
chr1:8701287 TAC
TAC
 T
T
 2 a0001c0002t0002g0161
a0001c0002t0002g0180
a0001c0002t0002g0161
a0001c0002t0002g0180
 2 HG02027.hp2
HG02080.hp2
HG02027.hp2
HG02080.hp2
 intron_variant MODIFIER c.-144-44848_-144-44
others(8): Show 
c.-144-44848_-144-44847delGT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8701287
chr1:8701287 TACAC
TACAC
 T
T
 3 a0001c0002t0002g0151
a0001c0002t0002g0178
a0001c0002t0002g0183
a0001c0002t0002g0151
a0001c0002t0002g0178
a0001c0002t0002g0183
 3 HG01261.hp2
HG01934.hp2
HG02293.hp2
HG01261.hp2
HG01934.hp2
HG02293.hp2
 intron_variant MODIFIER c.-144-44850_-144-44
others(10): Show 
c.-144-44850_-144-44847delGTGT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8701287
chr1:8701308 ACACACAC
others(9): Show 
ACACACACACACACACG
 A
A
 18 a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
others(15): Show 
a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0003t0004g0017
a0001c0004t0010g0120
a0001c0004t0022g0121
a0001c0005t0026g0127
a0001c0007t0001g0008
a0001c0016t0020g0001
a0001c0019t0014g0119
a0009c0021t0003g0135
 18 HG00140.hp1
HG01167.hp1
HG01175.hp2
others(15): Show 
HG00140.hp1
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02559.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03195.hp2
HG03225.hp1
HG03471.hp2
HG03831.hp1
NA18906.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.-144-44883_-144-44
others(22): Show 
c.-144-44883_-144-44868delCGTGTGTGTGTGTGTG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8701308
chr1:8701310 ACACACAC
others(7): Show 
ACACACACACACACG
 A
A
 3 a0001c0004t0010g0142
a0001c0004t0014g0126
a0003c0008t0001g0031
a0001c0004t0010g0142
a0001c0004t0014g0126
a0003c0008t0001g0031
 3 HG02965.hp2
HG03139.hp2
HG03579.hp2
HG02965.hp2
HG03139.hp2
HG03579.hp2
 intron_variant MODIFIER c.-144-44883_-144-44
others(20): Show 
c.-144-44883_-144-44870delCGTGTGTGTGTGTG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8701310
chr1:8701312 ACACACAC
others(5): Show 
ACACACACACACG
 A
A
 3 a0001c0001t0001g0067
a0001c0001t0003g0124
a0001c0002t0013g0053
a0001c0001t0001g0067
a0001c0001t0003g0124
a0001c0002t0013g0053
 3 HG03491.hp2
HG03831.hp2
NA20905.hp1
HG03491.hp2
HG03831.hp2
NA20905.hp1
 intron_variant MODIFIER c.-144-44883_-144-44
others(18): Show 
c.-144-44883_-144-44872delCGTGTGTGTGTG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8701312
chr1:8701314 ACACACAC
others(3): Show 
ACACACACACG
 A
A
 1 a0001c0004t0003g0109
a0001c0004t0003g0109
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.-144-44883_-144-44
others(16): Show 
c.-144-44883_-144-44874delCGTGTGTGTG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8701314
chr1:8701316 ACACACAC
others(1): Show 
ACACACACG
 A
A
 73 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(70): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0069
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0031g0144
a0001c0002t0002g0157
a0001c0002t0005g0116
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0005t0019g0030
a0001c0005t0034g0156
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0018t0001g0005
a0002c0006t0003g0139
a0002c0026t0008g0140
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
 73 HG00140.hp2
HG00544.hp2
HG00597.hp2
others(70): Show 
HG00140.hp2
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02976.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03471.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp2
HG03688.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18973.hp1
NA18973.hp2
NA18983.hp2
NA18993.hp2
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19090.hp1
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-144-44883_-144-44
others(14): Show 
c.-144-44883_-144-44876delCGTGTGTG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8701316
chr1:8701318 ACACACG
ACACACG
 A
A
 10 a0001c0001t0001g0043
a0001c0001t0001g0058
a0001c0001t0001g0075
others(7): Show 
a0001c0001t0001g0043
a0001c0001t0001g0058
a0001c0001t0001g0075
a0001c0003t0004g0042
a0001c0004t0005g0123
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
 10 HG00280.hp1
HG02074.hp2
HG02109.hp1
others(7): Show 
HG00280.hp1
HG02074.hp2
HG02109.hp1
HG02257.hp2
HG02602.hp2
HG02818.hp1
HG03209.hp1
HG03516.hp1
NA18967.hp1
NA18993.hp1
 intron_variant MODIFIER c.-144-44883_-144-44
others(12): Show 
c.-144-44883_-144-44878delCGTGTG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8701318
chr1:8701320 ACACG
ACACG
 A
A
 11 a0001c0001t0001g0070
a0001c0001t0003g0095
a0001c0001t0003g0115
others(8): Show 
a0001c0001t0001g0070
a0001c0001t0003g0095
a0001c0001t0003g0115
a0001c0001t0023g0113
a0001c0001t0036g0194
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0125
a0001c0009t0041g0198
a0005c0013t0029g0111
a0007c0020t0039g0197
 11 HG00544.hp1
HG00597.hp1
HG02004.hp1
others(8): Show 
HG00544.hp1
HG00597.hp1
HG02004.hp1
HG02145.hp1
HG02723.hp1
HG03041.hp1
HG03453.hp1
HG06807.hp1
NA18985.hp2
NA19009.hp1
NA20129.hp1
 intron_variant MODIFIER c.-144-44883_-144-44
others(10): Show 
c.-144-44883_-144-44880delCGTG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8701320
chr1:8701322 ACG
ACG
 A
A
 5 a0001c0001t0001g0048
a0001c0004t0005g0083
a0001c0004t0025g0080
others(2): Show 
a0001c0001t0001g0048
a0001c0004t0005g0083
a0001c0004t0025g0080
a0001c0004t0040g0199
a0010c0027t0003g0086
 5 HG01433.hp2
HG02970.hp2
HG04228.hp2
others(2): Show 
HG01433.hp2
HG02970.hp2
HG04228.hp2
NA18985.hp1
NA19085.hp2
 intron_variant MODIFIER c.-144-44883_-144-44
others(8): Show 
c.-144-44883_-144-44882delCG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8701322
chr1:8701322 ACGCACAC
others(5): Show 
ACGCACACACTCC
 A
A
 5 a0001c0001t0001g0073
a0001c0001t0001g0074
a0003c0008t0001g0006
others(2): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0003c0008t0001g0006
a0003c0008t0001g0071
a0003c0008t0001g0072
 5 HG02647.hp1
HG02970.hp1
HG02976.hp1
others(2): Show 
HG02647.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03139.hp1
 intron_variant MODIFIER c.-144-44893_-144-44
others(18): Show 
c.-144-44893_-144-44882delGGAGTGTGTGCG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8701322
chr1:8701324 G
G
 A
A
 34 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(31): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0016g0054
a0001c0001t0030g0143
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0004t0005g0079
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0008c0017t0003g0101
 34 HG00280.hp2
HG00609.hp1
HG00741.hp2
others(31): Show 
HG00280.hp2
HG00609.hp1
HG00741.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02683.hp2
HG02735.hp2
HG02886.hp2
HG03225.hp2
HG03453.hp2
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG06807.hp2
NA18944.hp2
NA18964.hp1
NA18983.hp1
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20300.hp2
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.-144-44883C>T
c.-144-44883C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8701324
chr1:8701346 T
T
 C
C
 5 a0001c0001t0001g0073
a0001c0001t0001g0074
a0003c0008t0001g0006
others(2): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0003c0008t0001g0006
a0003c0008t0001g0071
a0003c0008t0001g0072
 5 HG02647.hp1
HG02970.hp1
HG02976.hp1
others(2): Show 
HG02647.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03139.hp1
 intron_variant MODIFIER c.-144-44905A>G
c.-144-44905A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8701346
chr1:8701770 A
A
 T
T
 1 a0001c0001t0006g0184
a0001c0001t0006g0184
 1 NA18944.hp1
NA18944.hp1
 intron_variant MODIFIER c.-144-45329T>A
c.-144-45329T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8701770
chr1:8701793 A
A
 C
C
 1 a0001c0003t0012g0018
a0001c0003t0012g0018
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.-144-45352T>G
c.-144-45352T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8701793
chr1:8701794 G
G
 GA
GA
 18 a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
others(15): Show 
a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0005t0026g0127
a0001c0016t0020g0001
a0001c0019t0014g0119
a0009c0021t0003g0135
 18 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(15): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02559.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02965.hp2
HG03195.hp2
HG03225.hp1
HG03471.hp2
HG03579.hp2
NA18906.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.-144-45354dupT
c.-144-45354dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8701794
chr1:8701835 T
T
 C
C
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-144-45394A>G
c.-144-45394A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8701835
chr1:8701864 T
T
 C
C
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-144-45423A>G
c.-144-45423A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8701864
chr1:8702071 G
G
 GA
GA
 13 a0001c0001t0001g0004
a0001c0001t0001g0064
a0001c0002t0002g0157
others(10): Show 
a0001c0001t0001g0004
a0001c0001t0001g0064
a0001c0002t0002g0157
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0016t0020g0001
a0001c0019t0014g0119
 13 HG00597.hp2
HG00609.hp2
HG01433.hp1
others(10): Show 
HG00597.hp2
HG00609.hp2
HG01433.hp1
HG02559.hp1
HG02622.hp1
HG02965.hp2
HG03130.hp1
HG03195.hp2
HG03579.hp1
HG03579.hp2
NA19074.hp1
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.-144-45631dupT
c.-144-45631dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8702071
chr1:8702071 G
G
 GAA
GAA
 12 a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
others(9): Show 
a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0004t0022g0121
a0009c0021t0003g0135
 12 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(9): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03225.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.-144-45632_-144-45
others(8): Show 
c.-144-45632_-144-45631dupTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8702071
chr1:8702098 A
A
 G
G
 1 a0001c0004t0005g0123
a0001c0004t0005g0123
 1 HG02602.hp2
HG02602.hp2
 intron_variant MODIFIER c.-144-45657T>C
c.-144-45657T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8702098
chr1:8702285 C
C
 A
A
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-144-45844G>T
c.-144-45844G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8702285
chr1:8702298 G
G
 A
A
 88 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(85): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0018t0001g0005
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
 88 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(85): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03453.hp1
HG03471.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-144-45857C>T
c.-144-45857C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8702298
chr1:8702528 T
T
 C
C
 1 a0001c0001t0001g0045
a0001c0001t0001g0045
 1 NA19002.hp1
NA19002.hp1
 intron_variant MODIFIER c.-144-46087A>G
c.-144-46087A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8702528
chr1:8702550 T
T
 C
C
 17 a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
others(14): Show 
a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0005t0026g0127
a0001c0016t0020g0001
a0009c0021t0003g0135
 17 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(14): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02559.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02965.hp2
HG03225.hp1
HG03471.hp2
HG03579.hp2
NA18906.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.-144-46109A>G
c.-144-46109A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8702550
chr1:8702554 G
G
 A
A
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-144-46113C>T
c.-144-46113C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8702554
chr1:8702854 C
C
 A
A
 1 a0001c0004t0027g0106
a0001c0004t0027g0106
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.-144-46413G>T
c.-144-46413G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8702854
chr1:8703075 G
G
 A
A
 17 a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
others(14): Show 
a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0005t0026g0127
a0001c0016t0020g0001
a0009c0021t0003g0135
 17 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(14): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02559.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02965.hp2
HG03225.hp1
HG03471.hp2
HG03579.hp2
NA18906.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.-144-46634C>T
c.-144-46634C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8703075
chr1:8703233 C
C
 G
G
 1 a0001c0004t0010g0142
a0001c0004t0010g0142
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.-144-46792G>C
c.-144-46792G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8703233
chr1:8703256 T
T
 A
A
 2 a0001c0001t0001g0048
a0001c0001t0001g0070
a0001c0001t0001g0048
a0001c0001t0001g0070
 2 NA19009.hp1
NA19085.hp2
NA19009.hp1
NA19085.hp2
 intron_variant MODIFIER c.-144-46815A>T
c.-144-46815A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8703256
chr1:8703261 G
G
 T
T
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.-144-46820C>A
c.-144-46820C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8703261
chr1:8703304 G
G
 A
A
 1 a0001c0002t0002g0177
a0001c0002t0002g0177
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.-144-46863C>T
c.-144-46863C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8703304
chr1:8703627 T
T
 C
C
 3 a0001c0002t0002g0165
a0001c0002t0002g0176
a0001c0023t0002g0175
a0001c0002t0002g0165
a0001c0002t0002g0176
a0001c0023t0002g0175
 3 NA18939.hp2
NA18967.hp2
NA19085.hp1
NA18939.hp2
NA18967.hp2
NA19085.hp1
 intron_variant MODIFIER c.-144-47186A>G
c.-144-47186A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8703627
chr1:8703819 A
A
 G
G
 1 a0002c0006t0024g0081
a0002c0006t0024g0081
 1 NA19005.hp2
NA19005.hp2
 intron_variant MODIFIER c.-144-47378T>C
c.-144-47378T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8703819
chr1:8703988 C
C
 A
A
 1 a0001c0002t0018g0002
a0001c0002t0018g0002
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.-144-47547G>T
c.-144-47547G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8703988
chr1:8704025 C
C
 T
T
 5 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(2): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
 5 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(2): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.-144-47584G>A
c.-144-47584G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8704025
chr1:8704249 T
T
 C
C
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.-144-47808A>G
c.-144-47808A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8704249
chr1:8704286 C
C
 A
A
 1 a0010c0027t0003g0086
a0010c0027t0003g0086
 1 NA18985.hp1
NA18985.hp1
 intron_variant MODIFIER c.-144-47845G>T
c.-144-47845G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8704286
chr1:8704359 A
A
 G
G
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.-144-47918T>C
c.-144-47918T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8704359
chr1:8704809 A
A
 T
T
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-144-48368T>A
c.-144-48368T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8704809
chr1:8704901 AC
AC
 A
A
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-144-48461delG
c.-144-48461delG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8704901
chr1:8705125 A
A
 T
T
 1 a0001c0002t0002g0193
a0001c0002t0002g0193
 1 HG01358.hp1
HG01358.hp1
 intron_variant MODIFIER c.-144-48684T>A
c.-144-48684T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8705125
chr1:8705296 A
A
 G
G
 1 a0007c0020t0039g0197
a0007c0020t0039g0197
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.-144-48855T>C
c.-144-48855T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8705296
chr1:8705309 C
C
 A
A
 1 a0001c0004t0014g0126
a0001c0004t0014g0126
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.-144-48868G>T
c.-144-48868G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8705309
chr1:8705468 G
G
 A
A
 1 a0001c0004t0003g0109
a0001c0004t0003g0109
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.-144-49027C>T
c.-144-49027C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8705468
chr1:8705587 G
G
 A
A
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-144-49146C>T
c.-144-49146C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8705587
chr1:8705946 C
C
 T
T
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.-144-49505G>A
c.-144-49505G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8705946
chr1:8706111 T
T
 TC
TC
 4 a0001c0001t0003g0122
a0001c0004t0010g0120
a0001c0004t0022g0121
others(1): Show 
a0001c0001t0003g0122
a0001c0004t0010g0120
a0001c0004t0022g0121
a0001c0005t0026g0127
 4 HG01167.hp1
HG02145.hp2
HG02257.hp1
others(1): Show 
HG01167.hp1
HG02145.hp2
HG02257.hp1
NA21309.hp1
 intron_variant MODIFIER c.-144-49671dupG
c.-144-49671dupG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8706111
chr1:8706113 C
C
 CA
CA
 10 a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0002t0002g0148
others(7): Show 
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0002t0002g0148
a0001c0002t0002g0150
a0001c0002t0002g0164
a0001c0002t0002g0166
a0001c0002t0002g0192
a0001c0002t0005g0116
a0001c0019t0014g0119
a0001c0023t0002g0175
 10 HG00639.hp1
HG01175.hp1
HG01981.hp2
others(7): Show 
HG00639.hp1
HG01175.hp1
HG01981.hp2
HG02129.hp1
HG03195.hp2
HG03225.hp2
HG04184.hp1
NA18939.hp2
NA19070.hp1
NA20300.hp2
 intron_variant MODIFIER c.-144-49673dupT
c.-144-49673dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8706113
chr1:8706113 C
C
 CCA
CCA
 9 a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
others(6): Show 
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0009c0021t0003g0135
 9 HG01175.hp2
HG01884.hp1
HG02109.hp2
others(6): Show 
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03225.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.-144-49673_-144-49
others(8): Show 
c.-144-49673_-144-49672insTG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8706113
chr1:8706113 CA
CA
 C
C
 37 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(34): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0184
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0002t0002g0174
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0005c0013t0029g0111
a0008c0017t0003g0101
a0010c0027t0003g0086
 37 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(34): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00741.hp2
HG01496.hp1
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02523.hp2
HG02723.hp1
HG02735.hp2
HG03041.hp1
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04228.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.-144-49673delT
c.-144-49673delT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8706113
chr1:8706113 CAA
CAA
 C
C
 14 a0001c0001t0001g0033
a0001c0001t0001g0050
a0001c0001t0001g0066
others(11): Show 
a0001c0001t0001g0033
a0001c0001t0001g0050
a0001c0001t0001g0066
a0001c0001t0001g0076
a0001c0002t0032g0155
a0001c0003t0004g0019
a0001c0003t0004g0036
a0001c0004t0003g0092
a0001c0004t0010g0107
a0001c0005t0009g0200
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0034
a0001c0010t0013g0024
 14 HG01168.hp2
HG01255.hp1
HG01433.hp1
others(11): Show 
HG01168.hp2
HG01255.hp1
HG01433.hp1
HG01884.hp2
HG02027.hp1
HG02698.hp1
HG02965.hp1
HG03453.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
NA18973.hp1
NA19005.hp1
NA19090.hp1
 intron_variant MODIFIER c.-144-49674_-144-49
others(8): Show 
c.-144-49674_-144-49673delTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8706113
chr1:8706113 CAAA
CAAA
 C
C
 81 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(78): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0036g0194
a0001c0002t0002g0157
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0005g0123
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0018t0001g0005
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0031
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
a0007c0020t0039g0197
 81 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(78): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02970.hp2
HG02976.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03209.hp1
HG03453.hp1
HG03471.hp1
HG03491.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-144-49675_-144-49
others(9): Show 
c.-144-49675_-144-49673delTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8706113
chr1:8706113 CAAAAAA
CAAAAAA
 C
C
 5 a0001c0001t0001g0073
a0001c0001t0001g0074
a0003c0008t0001g0006
others(2): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0003c0008t0001g0006
a0003c0008t0001g0071
a0003c0008t0001g0072
 5 HG02647.hp1
HG02970.hp1
HG02976.hp1
others(2): Show 
HG02647.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03139.hp1
 intron_variant MODIFIER c.-144-49678_-144-49
others(12): Show 
c.-144-49678_-144-49673delTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8706113
chr1:8706114 A
A
 C
C
 4 a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
others(1): Show 
a0001c0002t0018g0002
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0016t0020g0001
 4 HG02559.hp1
HG02965.hp2
HG03579.hp2
others(1): Show 
HG02559.hp1
HG02965.hp2
HG03579.hp2
NA20129.hp2
 intron_variant MODIFIER c.-144-49673T>G
c.-144-49673T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8706114
chr1:8706219 T
T
 A
A
 2 a0001c0001t0001g0013
a0001c0001t0003g0141
a0001c0001t0001g0013
a0001c0001t0003g0141
 2 HG01192.hp2
HG02683.hp1
HG01192.hp2
HG02683.hp1
 intron_variant MODIFIER c.-144-49778A>T
c.-144-49778A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8706219
chr1:8706244 A
A
 G
G
 2 a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0011g0108
a0001c0003t0011g0112
 2 HG02683.hp2
HG06807.hp2
HG02683.hp2
HG06807.hp2
 intron_variant MODIFIER c.-144-49803T>C
c.-144-49803T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8706244
chr1:8706369 G
G
 A
A
 17 a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
others(14): Show 
a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0005t0026g0127
a0001c0016t0020g0001
a0009c0021t0003g0135
 17 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(14): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02559.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02965.hp2
HG03225.hp1
HG03471.hp2
HG03579.hp2
NA18906.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.-144-49928C>T
c.-144-49928C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8706369
chr1:8706479 C
C
 G
G
 1 a0001c0009t0041g0198
a0001c0009t0041g0198
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.-144-50038G>C
c.-144-50038G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8706479
chr1:8706560 A
A
 G
G
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.-144-50119T>C
c.-144-50119T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8706560
chr1:8706669 T
T
 C
C
 1 a0001c0002t0002g0177
a0001c0002t0002g0177
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.-144-50228A>G
c.-144-50228A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8706669
chr1:8706705 T
T
 C
C
 1 a0001c0002t0002g0161
a0001c0002t0002g0161
 1 HG02027.hp2
HG02027.hp2
 intron_variant MODIFIER c.-144-50264A>G
c.-144-50264A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8706705
chr1:8706796 A
A
 C
C
 1 a0001c0001t0001g0074
a0001c0001t0001g0074
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.-144-50355T>G
c.-144-50355T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8706796
chr1:8707052 C
C
 T
T
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-144-50611G>A
c.-144-50611G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8707052
chr1:8707121 T
T
 A
A
 3 a0001c0001t0001g0038
a0001c0001t0001g0046
a0001c0001t0001g0052
a0001c0001t0001g0038
a0001c0001t0001g0046
a0001c0001t0001g0052
 3 HG02165.hp2
HG02523.hp1
NA18983.hp2
HG02165.hp2
HG02523.hp1
NA18983.hp2
 intron_variant MODIFIER c.-144-50680A>T
c.-144-50680A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8707121
chr1:8707252 T
T
 G
G
 46 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0038
others(43): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0002t0013g0053
a0001c0003t0004g0068
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0018t0001g0005
a0003c0008t0001g0031
 46 HG00140.hp2
HG00280.hp1
HG00597.hp2
others(43): Show 
HG00140.hp2
HG00280.hp1
HG00597.hp2
HG00609.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01261.hp1
HG01433.hp1
HG01496.hp2
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02683.hp1
HG03139.hp2
HG03491.hp2
HG03688.hp1
HG03831.hp2
HG04184.hp2
HG04199.hp2
NA18944.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp2
NA18983.hp2
NA18985.hp2
NA18993.hp2
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.-144-50811A>C
c.-144-50811A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8707252
chr1:8707309 A
A
 G
G
 1 a0002c0006t0003g0091
a0002c0006t0003g0091
 1 NA19002.hp2
NA19002.hp2
 intron_variant MODIFIER c.-144-50868T>C
c.-144-50868T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8707309
chr1:8707340 G
G
 A
A
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.-144-50899C>T
c.-144-50899C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8707340
chr1:8707470 A
A
 G
G
 61 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(58): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0005t0026g0127
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0016t0020g0001
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0005c0013t0029g0111
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 61 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(58): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00741.hp2
HG01167.hp1
HG01175.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02293.hp1
HG02523.hp2
HG02559.hp1
HG02723.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02965.hp2
HG03041.hp1
HG03195.hp2
HG03225.hp1
HG03471.hp2
HG03491.hp1
HG03579.hp2
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
NA18906.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-144-51029T>C
c.-144-51029T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8707470
chr1:8707473 A
A
 G
G
 1 a0001c0004t0040g0199
a0001c0004t0040g0199
 1 HG02970.hp2
HG02970.hp2
 intron_variant MODIFIER c.-144-51032T>C
c.-144-51032T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8707473
chr1:8707721 C
C
 A
A
 159 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(156): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 159 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(156): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-144-51280G>T
c.-144-51280G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8707721
chr1:8707772 C
C
 T
T
 1 a0001c0001t0001g0059
a0001c0001t0001g0059
 1 HG01261.hp1
HG01261.hp1
 intron_variant MODIFIER c.-144-51331G>A
c.-144-51331G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8707772
chr1:8707779 G
G
 A
A
 17 a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
others(14): Show 
a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0005t0026g0127
a0001c0016t0020g0001
a0009c0021t0003g0135
 17 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(14): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02559.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02965.hp2
HG03225.hp1
HG03471.hp2
HG03579.hp2
NA18906.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.-144-51338C>T
c.-144-51338C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8707779
chr1:8707960 GTTC
GTTC
 G
G
 18 a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
others(15): Show 
a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0005t0026g0127
a0001c0016t0020g0001
a0001c0019t0014g0119
a0009c0021t0003g0135
 18 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(15): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02559.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02965.hp2
HG03195.hp2
HG03225.hp1
HG03471.hp2
HG03579.hp2
NA18906.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.-144-51522_-144-51
others(9): Show 
c.-144-51522_-144-51520delGAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8707960
chr1:8708030 T
T
 C
C
 1 a0001c0001t0001g0004
a0001c0001t0001g0004
 1 NA19074.hp1
NA19074.hp1
 intron_variant MODIFIER c.-144-51589A>G
c.-144-51589A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8708030
chr1:8708725 C
C
 T
T
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.-144-52284G>A
c.-144-52284G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8708725
chr1:8708808 A
A
 C
C
 3 a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
 3 HG02145.hp1
HG02970.hp2
HG06807.hp1
HG02145.hp1
HG02970.hp2
HG06807.hp1
 intron_variant MODIFIER c.-144-52367T>G
c.-144-52367T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8708808
chr1:8708905 G
G
 GT
GT
 51 a0001c0001t0001g0033
a0001c0001t0001g0060
a0001c0001t0001g0065
others(48): Show 
a0001c0001t0001g0033
a0001c0001t0001g0060
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0141
a0001c0001t0031g0144
a0001c0002t0002g0148
a0001c0002t0002g0150
a0001c0002t0002g0152
a0001c0002t0002g0158
a0001c0002t0002g0168
a0001c0002t0002g0176
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0005g0125
a0001c0002t0032g0155
a0001c0002t0033g0186
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0068
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0005t0019g0030
a0001c0005t0034g0156
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0014t0002g0191
a0001c0018t0001g0005
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
 51 HG00140.hp1
HG00544.hp2
HG00639.hp2
others(48): Show 
HG00140.hp1
HG00544.hp2
HG00639.hp2
HG00741.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01884.hp2
HG01981.hp2
HG02080.hp1
HG02080.hp2
HG02258.hp2
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp1
HG02723.hp2
HG02976.hp2
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03453.hp1
HG03471.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03688.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp1
NA18939.hp1
NA18946.hp1
NA18967.hp2
NA18973.hp1
NA18993.hp2
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19043.hp2
NA19090.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-144-52465dupA
c.-144-52465dupA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8708905
chr1:8708905 G
G
 GTT
GTT
 8 a0001c0001t0001g0015
a0001c0001t0001g0064
a0001c0003t0004g0007
others(5): Show 
a0001c0001t0001g0015
a0001c0001t0001g0064
a0001c0003t0004g0007
a0001c0003t0004g0042
a0001c0003t0004g0078
a0001c0004t0005g0123
a0001c0007t0001g0008
a0001c0011t0007g0029
 8 HG00597.hp2
HG02258.hp1
HG02280.hp1
others(5): Show 
HG00597.hp2
HG02258.hp1
HG02280.hp1
HG02602.hp2
HG03654.hp2
HG03831.hp1
NA18993.hp1
NA19009.hp2
 intron_variant MODIFIER c.-144-52466_-144-52
others(8): Show 
c.-144-52466_-144-52465dupAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8708905
chr1:8708905 GT
GT
 G
G
 23 a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
others(20): Show 
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0122
a0001c0001t0006g0153
a0001c0001t0016g0054
a0001c0002t0005g0114
a0001c0002t0005g0132
a0001c0002t0005g0136
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0010g0142
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0005t0026g0127
a0001c0016t0020g0001
a0009c0021t0003g0135
 23 HG00597.hp1
HG00609.hp1
HG00741.hp2
others(20): Show 
HG00597.hp1
HG00609.hp1
HG00741.hp2
HG01175.hp2
HG01433.hp2
HG02004.hp1
HG02074.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02293.hp1
HG02559.hp1
HG02735.hp2
HG02886.hp1
HG03225.hp2
HG03579.hp2
HG03688.hp2
HG04228.hp2
NA18906.hp2
NA19043.hp1
NA19090.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.-144-52465delA
c.-144-52465delA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8708905
chr1:8708905 GTT
GTT
 G
G
 35 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(32): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0023g0113
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0110
a0001c0002t0005g0116
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0134
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0004t0003g0109
a0001c0004t0010g0120
a0001c0004t0014g0126
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0005c0013t0029g0111
a0008c0017t0003g0101
a0010c0027t0003g0086
 35 HG00280.hp2
HG00544.hp1
HG00639.hp1
others(32): Show 
HG00280.hp2
HG00544.hp1
HG00639.hp1
HG01167.hp1
HG01361.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01981.hp1
HG02132.hp1
HG02165.hp1
HG02723.hp1
HG02809.hp1
HG02818.hp2
HG02965.hp2
HG03041.hp1
HG03195.hp2
HG03225.hp1
HG03471.hp2
HG03491.hp1
HG03669.hp1
NA18944.hp2
NA18964.hp1
NA18985.hp1
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19074.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.-144-52466_-144-52
others(8): Show 
c.-144-52466_-144-52465delAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8708905
chr1:8708935 C
C
 T
T
 1 a0001c0003t0004g0012
a0001c0003t0004g0012
 1 HG00544.hp2
HG00544.hp2
 intron_variant MODIFIER c.-144-52494G>A
c.-144-52494G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8708935
chr1:8708947 C
C
 G
G
 1 a0008c0017t0003g0101
a0008c0017t0003g0101
 1 NA20905.hp2
NA20905.hp2
 intron_variant MODIFIER c.-144-52506G>C
c.-144-52506G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8708947
chr1:8709114 G
G
 A
A
 57 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(54): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0122
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0005t0026g0127
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0016t0020g0001
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0005c0013t0029g0111
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 57 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(54): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00741.hp2
HG01167.hp1
HG01175.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02293.hp1
HG02559.hp1
HG02723.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02965.hp2
HG03041.hp1
HG03195.hp2
HG03225.hp1
HG03471.hp2
HG03491.hp1
HG03579.hp2
HG03669.hp1
HG03688.hp2
HG04228.hp2
NA18906.hp2
NA18944.hp2
NA18964.hp1
NA18983.hp1
NA18985.hp1
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-144-52673C>T
c.-144-52673C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8709114
chr1:8709284 A
A
 AT
AT
 58 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(55): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0102
a0001c0001t0003g0115
a0001c0001t0003g0122
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0016t0020g0001
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0005c0013t0029g0111
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 58 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(55): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00639.hp1
HG00741.hp2
HG01167.hp1
HG01175.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG02004.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02293.hp1
HG02559.hp1
HG02622.hp1
HG02723.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02965.hp2
HG03041.hp1
HG03130.hp1
HG03195.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp2
HG03491.hp1
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03688.hp2
HG04228.hp2
NA18906.hp2
NA18944.hp2
NA18964.hp1
NA18983.hp1
NA18985.hp1
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp1
NA19074.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-144-52844dupA
c.-144-52844dupA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8709284
chr1:8709291 T
T
 TC
TC
 4 a0001c0001t0003g0100
a0001c0001t0003g0103
a0001c0001t0003g0104
others(1): Show 
a0001c0001t0003g0100
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0003t0011g0096
 4 HG00609.hp1
HG02074.hp1
NA19007.hp2
others(1): Show 
HG00609.hp1
HG02074.hp1
NA19007.hp2
NA19090.hp2
 intron_variant MODIFIER c.-144-52851_-144-52
others(7): Show 
c.-144-52851_-144-52850insG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8709291
chr1:8709395 C
C
 T
T
 2 a0001c0004t0010g0120
a0001c0004t0022g0121
a0001c0004t0010g0120
a0001c0004t0022g0121
 2 HG01167.hp1
HG02257.hp1
HG01167.hp1
HG02257.hp1
 intron_variant MODIFIER c.-144-52954G>A
c.-144-52954G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8709395
chr1:8709406 C
C
 T
T
 1 a0003c0008t0001g0031
a0003c0008t0001g0031
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.-144-52965G>A
c.-144-52965G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8709406
chr1:8709621 C
C
 T
T
 4 a0001c0001t0001g0073
a0003c0008t0001g0006
a0003c0008t0001g0071
others(1): Show 
a0001c0001t0001g0073
a0003c0008t0001g0006
a0003c0008t0001g0071
a0003c0008t0001g0072
 4 HG02647.hp1
HG02970.hp1
HG03041.hp2
others(1): Show 
HG02647.hp1
HG02970.hp1
HG03041.hp2
HG03139.hp1
 intron_variant MODIFIER c.-144-53180G>A
c.-144-53180G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8709621
chr1:8709669 T
T
 C
C
 162 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(159): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 162 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(159): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-144-53228A>G
c.-144-53228A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8709669
chr1:8709721 T
T
 C
C
 3 a0001c0002t0018g0002
a0001c0004t0003g0109
a0001c0016t0020g0001
a0001c0002t0018g0002
a0001c0004t0003g0109
a0001c0016t0020g0001
 3 HG02559.hp1
NA20129.hp2
NA21309.hp2
HG02559.hp1
NA20129.hp2
NA21309.hp2
 intron_variant MODIFIER c.-144-53280A>G
c.-144-53280A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8709721
chr1:8710064 C
C
 T
T
 1 a0001c0001t0001g0055
a0001c0001t0001g0055
 1 HG04199.hp2
HG04199.hp2
 intron_variant MODIFIER c.-144-53623G>A
c.-144-53623G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8710064
chr1:8710205 A
A
 T
T
 1 a0001c0010t0013g0024
a0001c0010t0013g0024
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.-144-53764T>A
c.-144-53764T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8710205
chr1:8710291 C
C
 T
T
 4 a0001c0001t0001g0073
a0003c0008t0001g0006
a0003c0008t0001g0071
others(1): Show 
a0001c0001t0001g0073
a0003c0008t0001g0006
a0003c0008t0001g0071
a0003c0008t0001g0072
 4 HG02647.hp1
HG02970.hp1
HG03041.hp2
others(1): Show 
HG02647.hp1
HG02970.hp1
HG03041.hp2
HG03139.hp1
 intron_variant MODIFIER c.-144-53850G>A
c.-144-53850G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8710291
chr1:8710479 A
A
 G
G
 28 a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0003t0004g0007
others(25): Show 
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0078
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0005g0123
a0001c0007t0001g0008
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0015t0001g0009
a0002c0006t0003g0139
a0002c0026t0008g0140
a0004c0012t0008g0137
a0004c0012t0008g0138
 28 HG00140.hp1
HG00544.hp2
HG00639.hp2
others(25): Show 
HG00140.hp1
HG00544.hp2
HG00639.hp2
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG01358.hp2
HG01361.hp2
HG01884.hp2
HG01981.hp1
HG02258.hp1
HG02280.hp2
HG02602.hp2
HG02622.hp2
HG02698.hp1
HG02896.hp1
HG02976.hp2
HG03195.hp1
HG03654.hp2
HG03831.hp1
HG04115.hp2
NA18939.hp1
NA18946.hp1
NA18973.hp1
NA18993.hp1
NA19009.hp2
NA19043.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-144-54038T>C
c.-144-54038T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8710479
chr1:8710587 C
C
 T
T
 1 a0001c0002t0002g0180
a0001c0002t0002g0180
 1 HG02080.hp2
HG02080.hp2
 intron_variant MODIFIER c.-144-54146G>A
c.-144-54146G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8710587
chr1:8710637 G
G
 A
A
 39 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(36): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0008c0017t0003g0101
a0010c0027t0003g0086
 39 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(36): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00741.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02735.hp2
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.-144-54196C>T
c.-144-54196C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8710637
chr1:8710673 G
G
 A
A
 1 a0001c0004t0040g0199
a0001c0004t0040g0199
 1 HG02970.hp2
HG02970.hp2
 intron_variant MODIFIER c.-144-54232C>T
c.-144-54232C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8710673
chr1:8710824 A
A
 G
G
 42 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(39): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0005c0013t0029g0111
a0008c0017t0003g0101
a0010c0027t0003g0086
 42 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(39): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00741.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02723.hp1
HG02735.hp2
HG03041.hp1
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.-144-54383T>C
c.-144-54383T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8710824
chr1:8710903 T
T
 C
C
 1 a0003c0008t0001g0031
a0003c0008t0001g0031
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.-144-54462A>G
c.-144-54462A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8710903
chr1:8710993 T
T
 C
C
 1 a0001c0003t0017g0032
a0001c0003t0017g0032
 1 HG04115.hp2
HG04115.hp2
 intron_variant MODIFIER c.-144-54552A>G
c.-144-54552A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8710993
chr1:8711094 C
C
 A
A
 1 a0001c0002t0002g0161
a0001c0002t0002g0161
 1 HG02027.hp2
HG02027.hp2
 intron_variant MODIFIER c.-144-54653G>T
c.-144-54653G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8711094
chr1:8711111 C
C
 T
T
 18 a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
others(15): Show 
a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0005t0026g0127
a0001c0016t0020g0001
a0001c0019t0014g0119
a0009c0021t0003g0135
 18 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(15): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02559.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02965.hp2
HG03195.hp2
HG03225.hp1
HG03471.hp2
HG03579.hp2
NA18906.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.-144-54670G>A
c.-144-54670G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8711111
chr1:8711157 C
C
 CA
CA
 12 a0001c0002t0002g0150
a0001c0002t0002g0165
a0001c0002t0002g0168
others(9): Show 
a0001c0002t0002g0150
a0001c0002t0002g0165
a0001c0002t0002g0168
a0001c0002t0002g0178
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0035g0160
a0001c0005t0009g0200
a0001c0005t0009g0203
a0001c0014t0002g0191
a0001c0023t0002g0175
 12 HG00741.hp1
HG01175.hp1
HG01255.hp2
others(9): Show 
HG00741.hp1
HG01175.hp1
HG01255.hp2
HG01358.hp1
HG01361.hp1
HG01981.hp2
HG02293.hp2
HG03209.hp1
HG03516.hp1
HG03669.hp2
NA18939.hp2
NA19085.hp1
 intron_variant MODIFIER c.-144-54717dupT
c.-144-54717dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8711157
chr1:8711157 C
C
 CAAA
CAAA
 5 a0001c0002t0002g0149
a0001c0002t0002g0158
a0001c0002t0002g0164
others(2): Show 
a0001c0002t0002g0149
a0001c0002t0002g0158
a0001c0002t0002g0164
a0001c0002t0002g0174
a0001c0004t0022g0121
 5 HG02129.hp1
HG02257.hp1
HG02602.hp1
others(2): Show 
HG02129.hp1
HG02257.hp1
HG02602.hp1
HG03654.hp1
NA18946.hp2
 intron_variant MODIFIER c.-144-54719_-144-54
others(9): Show 
c.-144-54719_-144-54717dupTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8711157
chr1:8711157 C
C
 CAAAAA
CAAAAA
 5 a0001c0002t0002g0163
a0001c0002t0002g0173
a0001c0002t0005g0134
others(2): Show 
a0001c0002t0002g0163
a0001c0002t0002g0173
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0004t0010g0120
 5 HG01167.hp1
HG02451.hp1
HG02818.hp2
others(2): Show 
HG01167.hp1
HG02451.hp1
HG02818.hp2
HG02886.hp1
HG04199.hp1
 intron_variant MODIFIER c.-144-54721_-144-54
others(11): Show 
c.-144-54721_-144-54717dupTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8711157
chr1:8711157 C
C
 CAAAAAA
CAAAAAA
 8 a0001c0001t0003g0122
a0001c0002t0002g0169
a0001c0002t0005g0128
others(5): Show 
a0001c0001t0003g0122
a0001c0002t0002g0169
a0001c0002t0005g0128
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0028g0133
a0001c0009t0041g0198
a0009c0021t0003g0135
 8 HG01175.hp2
HG01884.hp1
HG02132.hp2
others(5): Show 
HG01175.hp2
HG01884.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02809.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.-144-54722_-144-54
others(12): Show 
c.-144-54722_-144-54717dupTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8711157
chr1:8711157 C
C
 CAAAAAAA
others(4): Show 
CAAAAAAAAAAA
 1 a0001c0002t0002g0166
a0001c0002t0002g0166
 1 NA19070.hp1
NA19070.hp1
 intron_variant MODIFIER c.-144-54727_-144-54
others(17): Show 
c.-144-54727_-144-54717dupTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8711157
chr1:8711157 C
C
 CAAAAAAA
others(15): Show 
CAAAAAAAAAAAAAAAAAAAAAA
 1 a0007c0020t0039g0197
a0007c0020t0039g0197
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.-144-54738_-144-54
others(28): Show 
c.-144-54738_-144-54717dupTTTTTTTTTTTTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8711157
chr1:8711157 CAAAAAA
CAAAAAA
 C
C
 44 a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0066
others(41): Show 
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0066
a0001c0001t0001g0069
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0002t0002g0152
a0001c0002t0002g0162
a0001c0002t0002g0179
a0001c0002t0005g0114
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0097
a0002c0006t0024g0081
a0008c0017t0003g0101
a0010c0027t0003g0086
 44 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(41): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00741.hp2
HG01167.hp2
HG01169.hp2
HG01433.hp2
HG01496.hp1
HG01934.hp1
HG02004.hp1
HG02027.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02559.hp2
HG02735.hp2
HG02886.hp2
HG02976.hp1
HG03453.hp2
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG03688.hp2
HG04228.hp2
HG06807.hp2
NA18944.hp2
NA18964.hp1
NA18967.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.-144-54722_-144-54
others(12): Show 
c.-144-54722_-144-54717delTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8711157
chr1:8711157 CAAAAAAA
CAAAAAAA
 C
C
 80 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(77): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0118
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0123
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0015t0001g0009
a0001c0018t0001g0005
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
 80 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(77): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01981.hp1
HG02004.hp2
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02293.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp1
HG02896.hp1
HG02970.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03453.hp1
HG03491.hp2
HG03579.hp1
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp1
NA20905.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-144-54723_-144-54
others(13): Show 
c.-144-54723_-144-54717delTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8711157
chr1:8711157 CAAAAAAA
others(3): Show 
CAAAAAAAAAA
 C
C
 6 a0001c0002t0005g0110
a0001c0004t0040g0199
a0001c0011t0007g0027
others(3): Show 
a0001c0002t0005g0110
a0001c0004t0040g0199
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0005c0013t0029g0111
 6 HG02280.hp1
HG02451.hp2
HG02723.hp1
others(3): Show 
HG02280.hp1
HG02451.hp2
HG02723.hp1
HG02723.hp2
HG02970.hp2
HG03041.hp1
 intron_variant MODIFIER c.-144-54726_-144-54
others(16): Show 
c.-144-54726_-144-54717delTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8711157
chr1:8711157 CAAAAAAA
others(4): Show 
CAAAAAAAAAAA
 C
C
 6 a0001c0005t0019g0030
a0001c0010t0007g0026
a0001c0010t0007g0034
others(3): Show 
a0001c0005t0019g0030
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0005c0013t0021g0023
a0006c0025t0007g0025
 6 HG02647.hp2
HG02809.hp2
HG02965.hp1
others(3): Show 
HG02647.hp2
HG02809.hp2
HG02965.hp1
HG03130.hp2
HG03471.hp1
HG03540.hp2
 intron_variant MODIFIER c.-144-54727_-144-54
others(17): Show 
c.-144-54727_-144-54717delTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8711157
chr1:8711331 G
G
 A
A
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-144-54890C>T
c.-144-54890C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8711331
chr1:8711493 T
T
 C
C
 1 a0001c0002t0005g0114
a0001c0002t0005g0114
 1 HG02004.hp1
HG02004.hp1
 intron_variant MODIFIER c.-144-55052A>G
c.-144-55052A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8711493
chr1:8711658 A
A
 G
G
 1 a0001c0003t0004g0017
a0001c0003t0004g0017
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.-144-55217T>C
c.-144-55217T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8711658
chr1:8712598 T
T
 A
A
 1 a0001c0002t0002g0162
a0001c0002t0002g0162
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.-144-56157A>T
c.-144-56157A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8712598
chr1:8712786 T
T
 A
A
 33 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(30): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0030g0143
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0008c0017t0003g0101
a0010c0027t0003g0086
 33 HG00280.hp2
HG00609.hp1
HG00741.hp2
others(30): Show 
HG00280.hp2
HG00609.hp1
HG00741.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02735.hp2
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18983.hp1
NA18985.hp1
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.-144-56345A>T
c.-144-56345A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8712786
chr1:8713456 A
A
 G
G
 92 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(89): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0018t0001g0005
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
 92 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(89): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01884.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03453.hp1
HG03471.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-144-57015T>C
c.-144-57015T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8713456
chr1:8713659 G
G
 A
A
 1 a0001c0003t0004g0019
a0001c0003t0004g0019
 1 NA18973.hp1
NA18973.hp1
 intron_variant MODIFIER c.-144-57218C>T
c.-144-57218C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8713659
chr1:8713753 A
A
 G
G
 1 a0001c0003t0004g0012
a0001c0003t0004g0012
 1 HG00544.hp2
HG00544.hp2
 intron_variant MODIFIER c.-144-57312T>C
c.-144-57312T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8713753
chr1:8713845 T
T
 C
C
 1 a0001c0004t0003g0109
a0001c0004t0003g0109
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.-144-57404A>G
c.-144-57404A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8713845
chr1:8713976 A
A
 G
G
 1 a0005c0013t0029g0111
a0005c0013t0029g0111
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.-144-57535T>C
c.-144-57535T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8713976
chr1:8714012 A
A
 T
T
 1 a0001c0002t0002g0180
a0001c0002t0002g0180
 1 HG02080.hp2
HG02080.hp2
 intron_variant MODIFIER c.-144-57571T>A
c.-144-57571T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8714012
chr1:8714136 A
A
 G
G
 1 a0001c0001t0003g0087
a0001c0001t0003g0087
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.-144-57695T>C
c.-144-57695T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8714136
chr1:8714196 A
A
 G
G
 1 a0001c0003t0004g0019
a0001c0003t0004g0019
 1 NA18973.hp1
NA18973.hp1
 intron_variant MODIFIER c.-144-57755T>C
c.-144-57755T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8714196
chr1:8714392 T
T
 C
C
 23 a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
others(20): Show 
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0078
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0005g0123
a0001c0007t0001g0008
a0001c0009t0004g0016
a0001c0009t0004g0020
a0002c0006t0003g0139
a0002c0026t0008g0140
a0004c0012t0008g0137
a0004c0012t0008g0138
 23 HG00140.hp1
HG00544.hp2
HG00639.hp2
others(20): Show 
HG00140.hp1
HG00544.hp2
HG00639.hp2
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG01358.hp2
HG01361.hp2
HG01981.hp1
HG02280.hp2
HG02602.hp2
HG02698.hp1
HG02976.hp2
HG03195.hp1
HG03654.hp2
HG03831.hp1
HG04115.hp2
NA18939.hp1
NA18946.hp1
NA18973.hp1
NA18993.hp1
NA19009.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-144-57951A>G
c.-144-57951A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8714392
chr1:8714914 G
G
 A
A
 57 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(54): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0122
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0005t0026g0127
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0016t0020g0001
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0005c0013t0029g0111
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 57 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(54): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00741.hp2
HG01167.hp1
HG01175.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02293.hp1
HG02559.hp1
HG02723.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02965.hp2
HG03041.hp1
HG03195.hp2
HG03225.hp1
HG03471.hp2
HG03491.hp1
HG03579.hp2
HG03669.hp1
HG03688.hp2
HG04228.hp2
NA18906.hp2
NA18944.hp2
NA18964.hp1
NA18983.hp1
NA18985.hp1
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-144-58473C>T
c.-144-58473C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8714914
chr1:8715008 G
G
 A
A
 5 a0001c0001t0001g0073
a0001c0001t0001g0074
a0003c0008t0001g0006
others(2): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0003c0008t0001g0006
a0003c0008t0001g0071
a0003c0008t0001g0072
 5 HG02647.hp1
HG02970.hp1
HG02976.hp1
others(2): Show 
HG02647.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03139.hp1
 intron_variant MODIFIER c.-144-58567C>T
c.-144-58567C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8715008
chr1:8715283 G
G
 A
A
 5 a0001c0004t0005g0123
a0002c0006t0003g0139
a0002c0026t0008g0140
others(2): Show 
a0001c0004t0005g0123
a0002c0006t0003g0139
a0002c0026t0008g0140
a0004c0012t0008g0137
a0004c0012t0008g0138
 5 HG01361.hp2
HG01981.hp1
HG02602.hp2
others(2): Show 
HG01361.hp2
HG01981.hp1
HG02602.hp2
HG02976.hp2
HG03195.hp1
 intron_variant MODIFIER c.-144-58842C>T
c.-144-58842C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8715283
chr1:8715406 GAGGCTGA
others(3): Show 
GAGGCTGAGGC
 G
G
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.-144-58975_-144-58
others(16): Show 
c.-144-58975_-144-58966delGCCTCAGCCT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8715406
chr1:8715425 C
C
 T
T
 18 a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
others(15): Show 
a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0005t0026g0127
a0001c0016t0020g0001
a0001c0019t0014g0119
a0009c0021t0003g0135
 18 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(15): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02559.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02965.hp2
HG03195.hp2
HG03225.hp1
HG03471.hp2
HG03579.hp2
NA18906.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.-144-58984G>A
c.-144-58984G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8715425
chr1:8715528 T
T
 C
C
 3 a0001c0001t0030g0143
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0001t0030g0143
a0001c0007t0003g0084
a0001c0007t0003g0098
 3 HG02155.hp2
NA18983.hp1
NA19000.hp1
HG02155.hp2
NA18983.hp1
NA19000.hp1
 intron_variant MODIFIER c.-144-59087A>G
c.-144-59087A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8715528
chr1:8715916 G
G
 A
A
 3 a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
 3 HG02145.hp1
HG02970.hp2
HG06807.hp1
HG02145.hp1
HG02970.hp2
HG06807.hp1
 intron_variant MODIFIER c.-144-59475C>T
c.-144-59475C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8715916
chr1:8716018 A
A
 T
T
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.-144-59577T>A
c.-144-59577T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8716018
chr1:8716299 C
C
 CA
CA
 8 a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0002t0002g0149
others(5): Show 
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0002t0002g0149
a0001c0002t0035g0160
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0010g0107
a0001c0004t0027g0106
 8 HG00609.hp1
HG00609.hp2
HG01433.hp1
others(5): Show 
HG00609.hp1
HG00609.hp2
HG01433.hp1
HG02602.hp1
HG02886.hp2
HG03453.hp2
HG03669.hp2
NA19090.hp2
 intron_variant MODIFIER c.-144-59859dupT
c.-144-59859dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8716299
chr1:8716299 CA
CA
 C
C
 109 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(106): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0002g0174
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0028g0133
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0005g0123
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0089
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
 109 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(106): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00639.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18946.hp2
NA18964.hp2
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp1
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-144-59859delT
c.-144-59859delT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8716299
chr1:8716304 A
A
 C
C
 1 a0007c0020t0039g0197
a0007c0020t0039g0197
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.-144-59863T>G
c.-144-59863T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8716304
chr1:8716660 A
A
 C
C
 43 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(40): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0005c0013t0029g0111
a0008c0017t0003g0101
a0010c0027t0003g0086
 43 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(40): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00741.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02723.hp1
HG02735.hp2
HG03041.hp1
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.-144-60219T>G
c.-144-60219T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8716660
chr1:8716665 T
T
 C
C
 3 a0001c0001t0030g0143
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0001t0030g0143
a0001c0007t0003g0084
a0001c0007t0003g0098
 3 HG02155.hp2
NA18983.hp1
NA19000.hp1
HG02155.hp2
NA18983.hp1
NA19000.hp1
 intron_variant MODIFIER c.-144-60224A>G
c.-144-60224A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8716665
chr1:8716865 G
G
 A
A
 18 a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
others(15): Show 
a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0005t0026g0127
a0001c0016t0020g0001
a0001c0019t0014g0119
a0009c0021t0003g0135
 18 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(15): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02559.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02965.hp2
HG03195.hp2
HG03225.hp1
HG03471.hp2
HG03579.hp2
NA18906.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.-144-60424C>T
c.-144-60424C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8716865
chr1:8716877 C
C
 G
G
 1 a0003c0008t0001g0031
a0003c0008t0001g0031
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.-144-60436G>C
c.-144-60436G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8716877
chr1:8717016 T
T
 C
C
 1 a0001c0011t0007g0029
a0001c0011t0007g0029
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.-144-60575A>G
c.-144-60575A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8717016
chr1:8717022 A
A
 T
T
 58 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(55): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0122
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0005t0026g0127
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0016t0020g0001
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0005c0013t0029g0111
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 58 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(55): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00741.hp2
HG01167.hp1
HG01175.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02293.hp1
HG02559.hp1
HG02723.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02965.hp2
HG03041.hp1
HG03195.hp2
HG03225.hp1
HG03471.hp2
HG03491.hp1
HG03579.hp2
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
NA18906.hp2
NA18944.hp2
NA18964.hp1
NA18983.hp1
NA18985.hp1
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-144-60581T>A
c.-144-60581T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8717022
chr1:8717159 A
A
 T
T
 1 a0001c0001t0003g0102
a0001c0001t0003g0102
 1 HG03688.hp2
HG03688.hp2
 intron_variant MODIFIER c.-144-60718T>A
c.-144-60718T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8717159
chr1:8717211 G
G
 A
A
 1 a0001c0001t0001g0037
a0001c0001t0001g0037
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.-144-60770C>T
c.-144-60770C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8717211
chr1:8717302 G
G
 C
C
 1 a0001c0007t0001g0008
a0001c0007t0001g0008
 1 HG03831.hp1
HG03831.hp1
 intron_variant MODIFIER c.-144-60861C>G
c.-144-60861C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8717302
chr1:8717321 C
C
 T
T
 1 a0001c0004t0005g0123
a0001c0004t0005g0123
 1 HG02602.hp2
HG02602.hp2
 intron_variant MODIFIER c.-144-60880G>A
c.-144-60880G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8717321
chr1:8717344 G
G
 A
A
 17 a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
others(14): Show 
a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0005t0026g0127
a0001c0016t0020g0001
a0009c0021t0003g0135
 17 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(14): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02559.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02965.hp2
HG03225.hp1
HG03471.hp2
HG03579.hp2
NA18906.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.-144-60903C>T
c.-144-60903C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8717344
chr1:8717689 T
T
 C
C
 1 a0001c0004t0003g0109
a0001c0004t0003g0109
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.-144-61248A>G
c.-144-61248A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8717689
chr1:8718016 C
C
 T
T
 1 a0001c0004t0001g0003
a0001c0004t0001g0003
 1 HG04184.hp2
HG04184.hp2
 intron_variant MODIFIER c.-144-61575G>A
c.-144-61575G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8718016
chr1:8718614 C
C
 A
A
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.-144-62173G>T
c.-144-62173G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8718614
chr1:8718726 G
G
 C
C
 1 a0001c0004t0006g0146
a0001c0004t0006g0146
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.-144-62285C>G
c.-144-62285C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8718726
chr1:8718814 A
A
 G
G
 1 a0001c0002t0002g0177
a0001c0002t0002g0177
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.-144-62373T>C
c.-144-62373T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8718814
chr1:8718951 C
C
 T
T
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-144-62510G>A
c.-144-62510G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8718951
chr1:8718960 G
G
 T
T
 17 a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
others(14): Show 
a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0005t0026g0127
a0001c0016t0020g0001
a0001c0019t0014g0119
a0009c0021t0003g0135
 17 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(14): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02559.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02965.hp2
HG03195.hp2
HG03225.hp1
HG03471.hp2
NA18906.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.-144-62519C>A
c.-144-62519C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8718960
chr1:8719142 T
T
 C
C
 1 a0001c0007t0004g0044
a0001c0007t0004g0044
 1 NA18964.hp2
NA18964.hp2
 intron_variant MODIFIER c.-144-62701A>G
c.-144-62701A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8719142
chr1:8719351 T
T
 G
G
 1 a0001c0001t0001g0058
a0001c0001t0001g0058
 1 HG00280.hp1
HG00280.hp1
 intron_variant MODIFIER c.-144-62910A>C
c.-144-62910A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8719351
chr1:8719424 C
C
 T
T
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.-144-62983G>A
c.-144-62983G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8719424
chr1:8719488 A
A
 G
G
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.-144-63047T>C
c.-144-63047T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8719488
chr1:8719724 G
G
 C
C
 1 a0001c0001t0003g0141
a0001c0001t0003g0141
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.-144-63283C>G
c.-144-63283C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8719724
chr1:8720024 G
G
 C
C
 1 a0001c0002t0002g0150
a0001c0002t0002g0150
 1 HG01981.hp2
HG01981.hp2
 intron_variant MODIFIER c.-144-63583C>G
c.-144-63583C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8720024
chr1:8720091 C
C
 G
G
 1 a0001c0002t0002g0180
a0001c0002t0002g0180
 1 HG02080.hp2
HG02080.hp2
 intron_variant MODIFIER c.-144-63650G>C
c.-144-63650G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8720091
chr1:8720262 T
T
 C
C
 3 a0001c0001t0001g0067
a0001c0001t0003g0124
a0001c0002t0013g0053
a0001c0001t0001g0067
a0001c0001t0003g0124
a0001c0002t0013g0053
 3 HG03491.hp2
HG03831.hp2
NA20905.hp1
HG03491.hp2
HG03831.hp2
NA20905.hp1
 intron_variant MODIFIER c.-144-63821A>G
c.-144-63821A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8720262
chr1:8720269 C
C
 CA
CA
 52 a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
others(49): Show 
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0003t0004g0019
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0003c0008t0001g0006
a0003c0008t0001g0071
a0003c0008t0001g0072
a0005c0013t0029g0111
a0008c0017t0003g0101
a0010c0027t0003g0086
 52 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(49): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00741.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02647.hp1
HG02723.hp1
HG02735.hp2
HG02886.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03139.hp1
HG03195.hp2
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.-144-63829dupT
c.-144-63829dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8720269
chr1:8720603 G
G
 A
A
 2 a0001c0004t0005g0083
a0001c0004t0025g0080
a0001c0004t0005g0083
a0001c0004t0025g0080
 2 HG01433.hp2
HG04228.hp2
HG01433.hp2
HG04228.hp2
 intron_variant MODIFIER c.-144-64162C>T
c.-144-64162C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8720603
chr1:8720877 G
G
 A
A
 1 a0001c0001t0001g0063
a0001c0001t0001g0063
 1 HG00140.hp2
HG00140.hp2
 intron_variant MODIFIER c.-144-64436C>T
c.-144-64436C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8720877
chr1:8720930 C
C
 T
T
 2 a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0011g0108
a0001c0003t0011g0112
 2 HG02683.hp2
HG06807.hp2
HG02683.hp2
HG06807.hp2
 intron_variant MODIFIER c.-144-64489G>A
c.-144-64489G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8720930
chr1:8721323 A
A
 T
T
 1 a0001c0005t0026g0127
a0001c0005t0026g0127
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.-144-64882T>A
c.-144-64882T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8721323
chr1:8721337 A
A
 G
G
 92 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(89): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0018t0001g0005
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
 92 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(89): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01884.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03453.hp1
HG03471.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-144-64896T>C
c.-144-64896T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8721337
chr1:8721437 G
G
 A
A
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.-144-64996C>T
c.-144-64996C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8721437
chr1:8721762 G
G
 A
A
 1 a0001c0001t0001g0063
a0001c0001t0001g0063
 1 HG00140.hp2
HG00140.hp2
 intron_variant MODIFIER c.-144-65321C>T
c.-144-65321C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8721762
chr1:8721877 G
G
 GT
GT
 2 a0001c0001t0001g0033
a0001c0003t0012g0018
a0001c0001t0001g0033
a0001c0003t0012g0018
 2 HG01884.hp2
HG02622.hp2
HG01884.hp2
HG02622.hp2
 intron_variant MODIFIER c.-144-65437dupA
c.-144-65437dupA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8721877
chr1:8722517 T
T
 C
C
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.-144-66076A>G
c.-144-66076A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8722517
chr1:8722649 T
T
 G
G
 3 a0001c0001t0001g0038
a0001c0001t0001g0046
a0001c0001t0001g0052
a0001c0001t0001g0038
a0001c0001t0001g0046
a0001c0001t0001g0052
 3 HG02165.hp2
HG02523.hp1
NA18983.hp2
HG02165.hp2
HG02523.hp1
NA18983.hp2
 intron_variant MODIFIER c.-144-66208A>C
c.-144-66208A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8722649
chr1:8722732 T
T
 A
A
 2 a0001c0002t0005g0110
a0005c0013t0029g0111
a0001c0002t0005g0110
a0005c0013t0029g0111
 2 HG02723.hp1
HG03041.hp1
HG02723.hp1
HG03041.hp1
 intron_variant MODIFIER c.-144-66291A>T
c.-144-66291A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8722732
chr1:8722968 C
C
 T
T
 1 a0001c0001t0038g0195
a0001c0001t0038g0195
 1 HG01515.hp1
HG01515.hp1
 intron_variant MODIFIER c.-144-66527G>A
c.-144-66527G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8722968
chr1:8723129 C
C
 T
T
 2 a0001c0004t0014g0126
a0001c0005t0026g0127
a0001c0004t0014g0126
a0001c0005t0026g0127
 2 HG02965.hp2
NA21309.hp1
HG02965.hp2
NA21309.hp1
 intron_variant MODIFIER c.-144-66688G>A
c.-144-66688G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8723129
chr1:8723338 G
G
 T
T
 2 a0002c0006t0024g0081
a0010c0027t0003g0086
a0002c0006t0024g0081
a0010c0027t0003g0086
 2 NA18985.hp1
NA19005.hp2
NA18985.hp1
NA19005.hp2
 intron_variant MODIFIER c.-144-66897C>A
c.-144-66897C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8723338
chr1:8723540 T
T
 C
C
 3 a0001c0002t0005g0110
a0001c0004t0003g0109
a0005c0013t0029g0111
a0001c0002t0005g0110
a0001c0004t0003g0109
a0005c0013t0029g0111
 3 HG02723.hp1
HG03041.hp1
NA21309.hp2
HG02723.hp1
HG03041.hp1
NA21309.hp2
 intron_variant MODIFIER c.-144-67099A>G
c.-144-67099A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8723540
chr1:8723555 G
G
 A
A
 1 a0001c0001t0001g0061
a0001c0001t0001g0061
 1 NA20300.hp1
NA20300.hp1
 intron_variant MODIFIER c.-144-67114C>T
c.-144-67114C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8723555
chr1:8723653 G
G
 A
A
 1 a0001c0003t0004g0068
a0001c0003t0004g0068
 1 HG02258.hp2
HG02258.hp2
 intron_variant MODIFIER c.-144-67212C>T
c.-144-67212C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8723653
chr1:8724030 T
T
 TA
TA
 44 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(41): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0003t0004g0019
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0005c0013t0029g0111
a0008c0017t0003g0101
a0010c0027t0003g0086
 44 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(41): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00741.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02723.hp1
HG02735.hp2
HG03041.hp1
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.-144-67590dupT
c.-144-67590dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8724030
chr1:8724239 A
A
 G
G
 1 a0001c0004t0010g0142
a0001c0004t0010g0142
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.-144-67798T>C
c.-144-67798T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8724239
chr1:8724267 CA
CA
 C
C
 17 a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
others(14): Show 
a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0005t0026g0127
a0001c0016t0020g0001
a0009c0021t0003g0135
 17 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(14): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02559.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02965.hp2
HG03225.hp1
HG03471.hp2
HG03579.hp2
NA18906.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.-144-67827delT
c.-144-67827delT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8724267
chr1:8724585 G
G
 C
C
 1 a0001c0003t0011g0096
a0001c0003t0011g0096
 1 HG02074.hp1
HG02074.hp1
 intron_variant MODIFIER c.-144-68144C>G
c.-144-68144C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8724585
chr1:8724652 G
G
 A
A
 1 a0003c0008t0001g0072
a0003c0008t0001g0072
 1 HG02647.hp1
HG02647.hp1
 intron_variant MODIFIER c.-144-68211C>T
c.-144-68211C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8724652
chr1:8724665 C
C
 T
T
 1 a0001c0009t0004g0016
a0001c0009t0004g0016
 1 HG01255.hp1
HG01255.hp1
 intron_variant MODIFIER c.-144-68224G>A
c.-144-68224G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8724665
chr1:8724838 GA
GA
 G
G
 88 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(85): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0018t0001g0005
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
 88 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(85): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01884.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03453.hp1
HG03471.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-144-68398delT
c.-144-68398delT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8724838
chr1:8724875 T
T
 TA
TA
 29 a0001c0001t0001g0037
a0001c0001t0001g0060
a0001c0001t0001g0063
others(26): Show 
a0001c0001t0001g0037
a0001c0001t0001g0060
a0001c0001t0001g0063
a0001c0001t0006g0181
a0001c0002t0002g0157
a0001c0002t0002g0179
a0001c0002t0002g0192
a0001c0002t0032g0155
a0001c0003t0004g0035
a0001c0003t0004g0068
a0001c0004t0001g0003
a0001c0004t0010g0107
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0005c0013t0021g0023
a0006c0025t0007g0025
a0007c0020t0039g0197
 29 HG00140.hp2
HG00639.hp2
HG01175.hp1
others(26): Show 
HG00140.hp2
HG00639.hp2
HG01175.hp1
HG02109.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02451.hp2
HG02486.hp2
HG02647.hp2
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02965.hp1
HG02970.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03831.hp1
HG04115.hp1
HG04184.hp2
HG06807.hp1
NA18906.hp1
 intron_variant MODIFIER c.-144-68435dupT
c.-144-68435dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8724875
chr1:8724875 T
T
 TAAAAAAA
TAAAAAAA
 17 a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0002t0005g0116
others(14): Show 
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0002t0005g0116
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0004t0010g0142
a0001c0004t0022g0121
a0001c0005t0026g0127
a0001c0016t0020g0001
a0001c0019t0014g0119
a0009c0021t0003g0135
 17 HG00639.hp1
HG01175.hp2
HG01884.hp1
others(14): Show 
HG00639.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02523.hp2
HG02559.hp1
HG02818.hp2
HG02886.hp1
HG03195.hp2
HG03225.hp1
HG03471.hp2
HG03579.hp2
NA18906.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.-144-68441_-144-68
others(13): Show 
c.-144-68441_-144-68435dupTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8724875
chr1:8724875 T
T
 TAAAAAAA
others(1): Show 
TAAAAAAAA
 8 a0001c0001t0003g0103
a0001c0001t0003g0117
a0001c0001t0031g0144
others(5): Show 
a0001c0001t0003g0103
a0001c0001t0003g0117
a0001c0001t0031g0144
a0001c0002t0005g0114
a0001c0002t0005g0130
a0001c0003t0004g0019
a0001c0003t0008g0085
a0001c0004t0014g0126
 8 HG01934.hp1
HG02004.hp1
HG02809.hp1
others(5): Show 
HG01934.hp1
HG02004.hp1
HG02809.hp1
HG02965.hp2
NA18973.hp1
NA18973.hp2
NA18993.hp2
NA19090.hp2
 intron_variant MODIFIER c.-144-68442_-144-68
others(14): Show 
c.-144-68442_-144-68435dupTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8724875
chr1:8724875 T
T
 TAAAAAAA
others(2): Show 
TAAAAAAAAA
 23 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(20): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0006g0145
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0002c0006t0003g0094
a0005c0013t0029g0111
a0008c0017t0003g0101
 23 HG00544.hp1
HG00597.hp1
HG00609.hp1
others(20): Show 
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG02155.hp2
HG02735.hp2
HG03041.hp1
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04228.hp2
NA18964.hp1
NA18983.hp1
NA19000.hp1
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.-144-68443_-144-68
others(15): Show 
c.-144-68443_-144-68435dupTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8724875
chr1:8724875 T
T
 TAAAAAAA
others(3): Show 
TAAAAAAAAAA
 9 a0001c0001t0016g0054
a0001c0003t0008g0105
a0001c0003t0011g0096
others(6): Show 
a0001c0001t0016g0054
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0022t0008g0082
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0097
a0002c0006t0024g0081
a0010c0027t0003g0086
 9 HG00280.hp2
HG00741.hp2
HG02074.hp1
others(6): Show 
HG00280.hp2
HG00741.hp2
HG02074.hp1
HG02165.hp1
HG02293.hp1
NA18944.hp2
NA18985.hp1
NA19002.hp2
NA19005.hp2
 intron_variant MODIFIER c.-144-68444_-144-68
others(16): Show 
c.-144-68444_-144-68435dupTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8724875
chr1:8724875 T
T
 TAAAAAAA
others(4): Show 
TAAAAAAAAAAA
 1 a0002c0006t0003g0089
a0002c0006t0003g0089
 1 HG02132.hp1
HG02132.hp1
 intron_variant MODIFIER c.-144-68445_-144-68
others(17): Show 
c.-144-68445_-144-68435dupTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8724875
chr1:8724891 C
C
 A
A
 162 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(159): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 162 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(159): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-144-68450G>T
c.-144-68450G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8724891
chr1:8725960 TC
TC
 T
T
 58 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(55): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0122
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0005t0026g0127
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0016t0020g0001
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0005c0013t0029g0111
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 58 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(55): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00741.hp2
HG01167.hp1
HG01175.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02293.hp1
HG02559.hp1
HG02723.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02965.hp2
HG03041.hp1
HG03195.hp2
HG03225.hp1
HG03471.hp2
HG03491.hp1
HG03579.hp2
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
NA18906.hp2
NA18944.hp2
NA18964.hp1
NA18983.hp1
NA18985.hp1
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-144-69520delG
c.-144-69520delG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8725960
chr1:8725995 T
T
 C
C
 1 a0001c0002t0002g0169
a0001c0002t0002g0169
 1 HG02132.hp2
HG02132.hp2
 intron_variant MODIFIER c.-144-69554A>G
c.-144-69554A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8725995
chr1:8726147 C
C
 CT
CT
 10 a0001c0002t0002g0151
a0001c0002t0002g0161
a0001c0002t0002g0163
others(7): Show 
a0001c0002t0002g0151
a0001c0002t0002g0161
a0001c0002t0002g0163
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0176
a0001c0002t0002g0178
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0015t0001g0009
 10 HG01261.hp2
HG01515.hp2
HG01517.hp1
others(7): Show 
HG01261.hp2
HG01515.hp2
HG01517.hp1
HG01934.hp2
HG02027.hp2
HG02293.hp2
HG02451.hp1
HG02896.hp1
HG04228.hp1
NA18967.hp2
 intron_variant MODIFIER c.-144-69707dupA
c.-144-69707dupA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8726147
chr1:8726147 C
C
 CTTTTCTT
others(4): Show 
CTTTTCTTTTTT
 1 a0001c0004t0010g0120
a0001c0004t0010g0120
 1 HG01167.hp1
HG01167.hp1
 intron_variant MODIFIER c.-144-69707_-144-69
others(17): Show 
c.-144-69707_-144-69706insAAAAAAGAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8726147
chr1:8726147 C
C
 CTTTTCTT
others(5): Show 
CTTTTCTTTTTTT
 4 a0001c0002t0005g0131
a0001c0002t0005g0134
a0001c0002t0005g0136
others(1): Show 
a0001c0002t0005g0131
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0004t0022g0121
 4 HG02257.hp1
HG02818.hp2
HG02886.hp1
others(1): Show 
HG02257.hp1
HG02818.hp2
HG02886.hp1
HG03471.hp2
 intron_variant MODIFIER c.-144-69707_-144-69
others(18): Show 
c.-144-69707_-144-69706insAAAAAAAGAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8726147
chr1:8726147 C
C
 CTTTTCTT
others(6): Show 
CTTTTCTTTTTTTT
 2 a0001c0002t0005g0130
a0009c0021t0003g0135
a0001c0002t0005g0130
a0009c0021t0003g0135
 2 HG01175.hp2
HG02809.hp1
HG01175.hp2
HG02809.hp1
 intron_variant MODIFIER c.-144-69707_-144-69
others(19): Show 
c.-144-69707_-144-69706insAAAAAAAAGAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8726147
chr1:8726147 C
C
 CTTTTCTT
others(7): Show 
CTTTTCTTTTTTTTT
 3 a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0028g0133
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0028g0133
 3 HG01884.hp1
HG03225.hp1
NA18906.hp2
HG01884.hp1
HG03225.hp1
NA18906.hp2
 intron_variant MODIFIER c.-144-69707_-144-69
others(20): Show 
c.-144-69707_-144-69706insAAAAAAAAAGAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8726147
chr1:8726147 C
C
 CTTTTCTT
others(8): Show 
CTTTTCTTTTTTTTTT
 2 a0001c0001t0003g0122
a0001c0002t0005g0132
a0001c0001t0003g0122
a0001c0002t0005g0132
 2 HG02109.hp2
HG02145.hp2
HG02109.hp2
HG02145.hp2
 intron_variant MODIFIER c.-144-69707_-144-69
others(21): Show 
c.-144-69707_-144-69706insAAAAAAAAAAGAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8726147
chr1:8726147 CT
CT
 C
C
 87 a0001c0001t0001g0004
a0001c0001t0001g0037
a0001c0001t0001g0043
others(84): Show 
a0001c0001t0001g0004
a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0167
a0001c0002t0002g0169
a0001c0002t0002g0190
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0003t0004g0068
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0005t0009g0200
a0001c0005t0019g0030
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0005c0013t0021g0023
a0006c0025t0007g0025
a0008c0017t0003g0101
 87 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(84): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00741.hp2
HG01167.hp2
HG01169.hp2
HG01255.hp2
HG01261.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp2
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03453.hp1
HG03471.hp1
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp2
HG04115.hp1
HG04228.hp2
HG06807.hp2
NA18906.hp1
NA18944.hp1
NA18944.hp2
NA18964.hp1
NA18967.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19043.hp1
NA19074.hp1
NA19074.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.-144-69707delA
c.-144-69707delA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8726147
chr1:8726147 CTT
CTT
 C
C
 14 a0001c0001t0001g0038
a0001c0001t0003g0088
a0001c0001t0003g0118
others(11): Show 
a0001c0001t0001g0038
a0001c0001t0003g0088
a0001c0001t0003g0118
a0001c0002t0005g0110
a0001c0004t0003g0109
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0005c0013t0029g0111
a0007c0020t0039g0197
 14 HG01496.hp1
HG02109.hp1
HG02257.hp2
others(11): Show 
HG01496.hp1
HG02109.hp1
HG02257.hp2
HG02523.hp1
HG02523.hp2
HG02723.hp1
HG02818.hp1
HG02886.hp2
HG02970.hp2
HG03041.hp1
HG03209.hp1
HG03453.hp2
HG06807.hp1
NA21309.hp2
 intron_variant MODIFIER c.-144-69708_-144-69
others(8): Show 
c.-144-69708_-144-69707delAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8726147
chr1:8726147 CTTTTTTT
others(5): Show 
CTTTTTTTTTTTT
 C
C
 2 a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0004g0016
a0001c0009t0004g0020
 2 HG01168.hp2
HG01255.hp1
HG01168.hp2
HG01255.hp1
 intron_variant MODIFIER c.-144-69718_-144-69
others(18): Show 
c.-144-69718_-144-69707delAAAAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8726147
chr1:8726151 T
T
 TC
TC
 2 a0001c0004t0014g0126
a0001c0005t0026g0127
a0001c0004t0014g0126
a0001c0005t0026g0127
 2 HG02965.hp2
NA21309.hp1
HG02965.hp2
NA21309.hp1
 intron_variant MODIFIER c.-144-69711_-144-69
others(7): Show 
c.-144-69711_-144-69710insG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8726151
chr1:8726153 T
T
 C
C
 1 a0001c0016t0020g0001
a0001c0016t0020g0001
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.-144-69712A>G
c.-144-69712A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8726153
chr1:8726156 T
T
 C
C
 1 a0001c0001t0006g0153
a0001c0001t0006g0153
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.-144-69715A>G
c.-144-69715A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8726156
chr1:8726194 G
G
 A
A
 2 a0001c0004t0014g0126
a0001c0005t0026g0127
a0001c0004t0014g0126
a0001c0005t0026g0127
 2 HG02965.hp2
NA21309.hp1
HG02965.hp2
NA21309.hp1
 intron_variant MODIFIER c.-144-69753C>T
c.-144-69753C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8726194
chr1:8726591 C
C
 T
T
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-144-70150G>A
c.-144-70150G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8726591
chr1:8726805 G
G
 GTTTA
GTTTA
 61 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(58): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0005t0026g0127
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0016t0020g0001
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0005c0013t0029g0111
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 61 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(58): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00741.hp2
HG01167.hp1
HG01175.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02293.hp1
HG02523.hp2
HG02559.hp1
HG02723.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02965.hp2
HG03041.hp1
HG03195.hp2
HG03225.hp1
HG03471.hp2
HG03491.hp1
HG03579.hp2
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
NA18906.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-144-70368_-144-70
others(10): Show 
c.-144-70368_-144-70365dupTAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8726805
chr1:8727124 G
G
 A
A
 1 a0001c0003t0011g0096
a0001c0003t0011g0096
 1 HG02074.hp1
HG02074.hp1
 intron_variant MODIFIER c.-144-70683C>T
c.-144-70683C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8727124
chr1:8727157 G
G
 T
T
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-144-70716C>A
c.-144-70716C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8727157
chr1:8727162 GA
GA
 G
G
 7 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(4): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0007c0020t0039g0197
 7 HG02109.hp1
HG02257.hp2
HG02818.hp1
others(4): Show 
HG02109.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.-144-70722delT
c.-144-70722delT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8727162
chr1:8727163 A
A
 G
G
 1 a0001c0009t0041g0198
a0001c0009t0041g0198
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.-144-70722T>C
c.-144-70722T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8727163
chr1:8727206 G
G
 A
A
 1 a0001c0002t0005g0125
a0001c0002t0005g0125
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.-144-70765C>T
c.-144-70765C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8727206
chr1:8727734 C
C
 T
T
 3 a0001c0002t0005g0110
a0001c0004t0003g0109
a0005c0013t0029g0111
a0001c0002t0005g0110
a0001c0004t0003g0109
a0005c0013t0029g0111
 3 HG02723.hp1
HG03041.hp1
NA21309.hp2
HG02723.hp1
HG03041.hp1
NA21309.hp2
 intron_variant MODIFIER c.-144-71293G>A
c.-144-71293G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8727734
chr1:8727907 A
A
 C
C
 1 a0001c0003t0008g0105
a0001c0003t0008g0105
 1 HG00741.hp2
HG00741.hp2
 intron_variant MODIFIER c.-144-71466T>G
c.-144-71466T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8727907
chr1:8728096 T
T
 C
C
 23 a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
others(20): Show 
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0078
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0005g0123
a0001c0007t0001g0008
a0001c0009t0004g0016
a0001c0009t0004g0020
a0002c0006t0003g0139
a0002c0026t0008g0140
a0004c0012t0008g0137
a0004c0012t0008g0138
 23 HG00140.hp1
HG00544.hp2
HG00639.hp2
others(20): Show 
HG00140.hp1
HG00544.hp2
HG00639.hp2
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG01358.hp2
HG01361.hp2
HG01981.hp1
HG02280.hp2
HG02602.hp2
HG02698.hp1
HG02976.hp2
HG03195.hp1
HG03654.hp2
HG03831.hp1
HG04115.hp2
NA18939.hp1
NA18946.hp1
NA18973.hp1
NA18993.hp1
NA19009.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-144-71655A>G
c.-144-71655A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8728096
chr1:8728172 G
G
 A
A
 1 a0001c0002t0032g0155
a0001c0002t0032g0155
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.-144-71731C>T
c.-144-71731C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8728172
chr1:8728308 C
C
 T
T
 3 a0001c0002t0005g0110
a0001c0004t0003g0109
a0005c0013t0029g0111
a0001c0002t0005g0110
a0001c0004t0003g0109
a0005c0013t0029g0111
 3 HG02723.hp1
HG03041.hp1
NA21309.hp2
HG02723.hp1
HG03041.hp1
NA21309.hp2
 intron_variant MODIFIER c.-144-71867G>A
c.-144-71867G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8728308
chr1:8728358 C
C
 A
A
 1 a0001c0003t0004g0021
a0001c0003t0004g0021
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.-144-71917G>T
c.-144-71917G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8728358
chr1:8728463 C
C
 CA
CA
 50 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0038
others(47): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0070
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0002t0002g0157
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0013g0053
a0001c0002t0032g0155
a0001c0003t0004g0068
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0041g0198
a0001c0018t0001g0005
a0001c0019t0014g0119
 50 HG00140.hp2
HG00280.hp1
HG00597.hp2
others(47): Show 
HG00140.hp2
HG00280.hp1
HG00597.hp2
HG00609.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01261.hp1
HG01433.hp1
HG01496.hp2
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02258.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02683.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03491.hp2
HG03516.hp2
HG03579.hp1
HG03688.hp1
HG03831.hp2
HG04199.hp2
NA18944.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp2
NA18983.hp2
NA18985.hp2
NA18993.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20905.hp1
 intron_variant MODIFIER c.-144-72023dupT
c.-144-72023dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8728463
chr1:8728476 A
A
 C
C
 17 a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
others(14): Show 
a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0005t0026g0127
a0001c0016t0020g0001
a0009c0021t0003g0135
 17 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(14): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02559.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02965.hp2
HG03225.hp1
HG03471.hp2
HG03579.hp2
NA18906.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.-144-72035T>G
c.-144-72035T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8728476
chr1:8728577 T
T
 C
C
 163 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(160): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 163 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(160): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-144-72136A>G
c.-144-72136A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8728577
chr1:8728617 G
G
 A
A
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.-144-72176C>T
c.-144-72176C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8728617
chr1:8728841 C
C
 G
G
 1 a0001c0002t0005g0125
a0001c0002t0005g0125
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.-144-72400G>C
c.-144-72400G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8728841
chr1:8728848 C
C
 T
T
 57 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(54): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0122
a0001c0001t0006g0181
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0005t0026g0127
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0016t0020g0001
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0005c0013t0029g0111
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 57 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(54): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00741.hp2
HG01167.hp1
HG01175.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02559.hp1
HG02723.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02965.hp2
HG03041.hp1
HG03195.hp2
HG03225.hp1
HG03471.hp2
HG03491.hp1
HG03579.hp2
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
NA18906.hp2
NA18944.hp2
NA18964.hp1
NA18983.hp1
NA18985.hp1
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-144-72407G>A
c.-144-72407G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8728848
chr1:8728893 G
G
 A
A
 1 a0001c0007t0003g0099
a0001c0007t0003g0099
 1 NA20752.hp2
NA20752.hp2
 intron_variant MODIFIER c.-144-72452C>T
c.-144-72452C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8728893
chr1:8728915 C
C
 T
T
 18 a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
others(15): Show 
a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0005t0026g0127
a0001c0016t0020g0001
a0001c0019t0014g0119
a0009c0021t0003g0135
 18 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(15): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02559.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02965.hp2
HG03195.hp2
HG03225.hp1
HG03471.hp2
HG03579.hp2
NA18906.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.-144-72474G>A
c.-144-72474G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8728915
chr1:8729167 C
C
 CTCAA
CTCAA
 10 a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
others(7): Show 
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0036g0194
a0001c0007t0004g0044
a0001c0007t0004g0047
 10 HG02004.hp2
HG02080.hp1
HG02155.hp1
others(7): Show 
HG02004.hp2
HG02080.hp1
HG02155.hp1
NA18964.hp2
NA18985.hp2
NA19002.hp1
NA19005.hp1
NA19009.hp1
NA19070.hp2
NA19085.hp2
 intron_variant MODIFIER c.-144-72730_-144-72
others(10): Show 
c.-144-72730_-144-72727dupTTGA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8729167
chr1:8729167 CTCAATCA
others(1): Show 
CTCAATCAA
 C
C
 39 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(36): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0008c0017t0003g0101
a0010c0027t0003g0086
 39 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(36): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00741.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02735.hp2
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.-144-72734_-144-72
others(14): Show 
c.-144-72734_-144-72727delTTGATTGA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8729167
chr1:8729217 A
A
 AT
AT
 88 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(85): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0070
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0152
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0168
a0001c0002t0002g0192
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0003t0004g0068
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0112
a0001c0003t0015g0147
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0005g0079
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0018t0001g0005
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0005c0013t0029g0111
a0008c0017t0003g0101
a0010c0027t0003g0086
 88 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(85): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00741.hp1
HG00741.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01261.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02132.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02293.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02683.hp1
HG02683.hp2
HG02735.hp2
HG02886.hp2
HG03041.hp1
HG03453.hp1
HG03453.hp2
HG03491.hp1
HG03491.hp2
HG03540.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
NA18944.hp1
NA18944.hp2
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp2
NA19000.hp1
NA19002.hp1
NA19002.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19043.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.-144-72777dupA
c.-144-72777dupA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8729217
chr1:8729217 A
A
 ATT
ATT
 6 a0001c0001t0001g0050
a0001c0001t0001g0069
a0001c0002t0005g0110
others(3): Show 
a0001c0001t0001g0050
a0001c0001t0001g0069
a0001c0002t0005g0110
a0001c0004t0003g0092
a0001c0004t0005g0083
a0002c0006t0024g0081
 6 HG01433.hp1
HG01433.hp2
HG02723.hp1
others(3): Show 
HG01433.hp1
HG01433.hp2
HG02723.hp1
NA19000.hp2
NA19005.hp1
NA19005.hp2
 intron_variant MODIFIER c.-144-72778_-144-72
others(8): Show 
c.-144-72778_-144-72777dupAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8729217
chr1:8729217 AT
AT
 A
A
 24 a0001c0001t0003g0122
a0001c0002t0002g0164
a0001c0002t0005g0128
others(21): Show 
a0001c0001t0003g0122
a0001c0002t0002g0164
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0003t0004g0035
a0001c0003t0012g0022
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0005t0009g0200
a0001c0005t0009g0204
a0001c0005t0026g0127
a0001c0016t0020g0001
a0001c0019t0014g0119
a0001c0023t0002g0175
a0001c0024t0002g0182
a0009c0021t0003g0135
 24 HG00639.hp2
HG01175.hp2
HG01884.hp1
others(21): Show 
HG00639.hp2
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02129.hp1
HG02145.hp2
HG02257.hp1
HG02559.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG02965.hp2
HG03195.hp2
HG03225.hp1
HG03471.hp2
HG03516.hp1
HG03579.hp2
NA18906.hp2
NA18939.hp2
NA19043.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.-144-72777delA
c.-144-72777delA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8729217
chr1:8729255 G
G
 A
A
 2 a0001c0002t0005g0110
a0005c0013t0029g0111
a0001c0002t0005g0110
a0005c0013t0029g0111
 2 HG02723.hp1
HG03041.hp1
HG02723.hp1
HG03041.hp1
 intron_variant MODIFIER c.-144-72814C>T
c.-144-72814C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8729255
chr1:8729413 C
C
 CG
CG
 93 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(90): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0018t0001g0005
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
 93 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(90): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01884.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03453.hp1
HG03471.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-144-72973dupC
c.-144-72973dupC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8729413
chr1:8729546 A
A
 G
G
 1 a0001c0001t0001g0037
a0001c0001t0001g0037
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.-144-73105T>C
c.-144-73105T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8729546
chr1:8729684 C
C
 G
G
 3 a0001c0002t0005g0110
a0001c0004t0003g0109
a0005c0013t0029g0111
a0001c0002t0005g0110
a0001c0004t0003g0109
a0005c0013t0029g0111
 3 HG02723.hp1
HG03041.hp1
NA21309.hp2
HG02723.hp1
HG03041.hp1
NA21309.hp2
 intron_variant MODIFIER c.-144-73243G>C
c.-144-73243G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8729684
chr1:8729879 C
C
 T
T
 3 a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
 3 HG02145.hp1
HG02970.hp2
HG06807.hp1
HG02145.hp1
HG02970.hp2
HG06807.hp1
 intron_variant MODIFIER c.-144-73438G>A
c.-144-73438G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8729879
chr1:8730027 A
A
 G
G
 1 a0001c0002t0002g0165
a0001c0002t0002g0165
 1 NA19085.hp1
NA19085.hp1
 intron_variant MODIFIER c.-144-73586T>C
c.-144-73586T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8730027
chr1:8730054 G
G
 A
A
 1 a0001c0003t0011g0096
a0001c0003t0011g0096
 1 HG02074.hp1
HG02074.hp1
 intron_variant MODIFIER c.-144-73613C>T
c.-144-73613C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8730054
chr1:8730072 A
A
 G
G
 2 a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0011g0108
a0001c0003t0011g0112
 2 HG02683.hp2
HG06807.hp2
HG02683.hp2
HG06807.hp2
 intron_variant MODIFIER c.-144-73631T>C
c.-144-73631T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8730072
chr1:8730436 G
G
 A
A
 3 a0001c0002t0005g0110
a0001c0004t0003g0109
a0005c0013t0029g0111
a0001c0002t0005g0110
a0001c0004t0003g0109
a0005c0013t0029g0111
 3 HG02723.hp1
HG03041.hp1
NA21309.hp2
HG02723.hp1
HG03041.hp1
NA21309.hp2
 intron_variant MODIFIER c.-144-73995C>T
c.-144-73995C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8730436
chr1:8731591 A
A
 G
G
 2 a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0056
a0001c0001t0001g0057
 2 HG01167.hp2
HG01169.hp2
HG01167.hp2
HG01169.hp2
 intron_variant MODIFIER c.-144-75150T>C
c.-144-75150T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8731591
chr1:8731592 T
T
 TA
TA
 34 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(31): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0006g0181
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0004t0003g0092
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0008c0017t0003g0101
a0010c0027t0003g0086
 34 HG00280.hp2
HG00609.hp1
HG00741.hp2
others(31): Show 
HG00280.hp2
HG00609.hp1
HG00741.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02735.hp2
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.-144-75152dupT
c.-144-75152dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8731592
chr1:8731691 CAAGAA
CAAGAA
 C
C
 4 a0001c0001t0001g0073
a0003c0008t0001g0006
a0003c0008t0001g0071
others(1): Show 
a0001c0001t0001g0073
a0003c0008t0001g0006
a0003c0008t0001g0071
a0003c0008t0001g0072
 4 HG02647.hp1
HG02970.hp1
HG03041.hp2
others(1): Show 
HG02647.hp1
HG02970.hp1
HG03041.hp2
HG03139.hp1
 intron_variant MODIFIER c.-144-75255_-144-75
others(11): Show 
c.-144-75255_-144-75251delTTCTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8731691
chr1:8731776 G
G
 GT
GT
 6 a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0002t0005g0116
others(3): Show 
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0002t0005g0116
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
 6 HG00639.hp1
HG02886.hp2
HG03225.hp2
others(3): Show 
HG00639.hp1
HG02886.hp2
HG03225.hp2
HG03453.hp2
HG03579.hp1
NA20300.hp2
 intron_variant MODIFIER c.-144-75336dupA
c.-144-75336dupA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8731776
chr1:8731780 TTTTG
TTTTG
 T
T
 6 a0001c0002t0002g0152
a0001c0002t0002g0163
a0001c0002t0002g0167
others(3): Show 
a0001c0002t0002g0152
a0001c0002t0002g0163
a0001c0002t0002g0167
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0024t0002g0182
 6 HG02080.hp2
HG02451.hp1
HG02735.hp1
others(3): Show 
HG02080.hp2
HG02451.hp1
HG02735.hp1
HG02896.hp2
HG03516.hp2
HG03540.hp1
 intron_variant MODIFIER c.-144-75343_-144-75
others(10): Show 
c.-144-75343_-144-75340delCAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8731780
chr1:8731781 TTTG
TTTG
 T
T
 153 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(150): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 153 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(150): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-144-75343_-144-75
others(9): Show 
c.-144-75343_-144-75341delCAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8731781
chr1:8731781 TTTGTTTG
TTTGTTTG
 T
T
 6 a0001c0001t0001g0058
a0001c0004t0014g0126
a0001c0004t0040g0199
others(3): Show 
a0001c0001t0001g0058
a0001c0004t0014g0126
a0001c0004t0040g0199
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0026g0127
 6 HG00280.hp1
HG02109.hp1
HG02965.hp2
others(3): Show 
HG00280.hp1
HG02109.hp1
HG02965.hp2
HG02970.hp2
HG03209.hp1
NA21309.hp1
 intron_variant MODIFIER c.-144-75347_-144-75
others(13): Show 
c.-144-75347_-144-75341delCAAACAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8731781
chr1:8731804 GT
GT
 G
G
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.-144-75364delA
c.-144-75364delA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8731804
chr1:8731835 C
C
 T
T
 52 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0038
others(49): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0068
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0018t0001g0005
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
 52 HG00140.hp2
HG00280.hp1
HG00597.hp2
others(49): Show 
HG00140.hp2
HG00280.hp1
HG00597.hp2
HG00609.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01261.hp1
HG01496.hp2
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp2
HG02293.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02647.hp1
HG02683.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03453.hp1
HG03491.hp2
HG03688.hp1
HG03831.hp2
HG04184.hp2
HG04199.hp2
NA18944.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp2
NA18983.hp2
NA18985.hp2
NA18993.hp2
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.-144-75394G>A
c.-144-75394G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8731835
chr1:8731836 G
G
 A
A
 1 a0001c0001t0023g0113
a0001c0001t0023g0113
 1 HG00544.hp1
HG00544.hp1
 intron_variant MODIFIER c.-144-75395C>T
c.-144-75395C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8731836
chr1:8731973 T
T
 G
G
 37 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(34): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0006g0181
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0004t0003g0092
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0008c0017t0003g0101
a0010c0027t0003g0086
 37 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(34): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00741.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02735.hp2
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18983.hp1
NA18985.hp1
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.-144-75532A>C
c.-144-75532A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8731973
chr1:8732143 C
C
 T
T
 1 a0007c0020t0039g0197
a0007c0020t0039g0197
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.-144-75702G>A
c.-144-75702G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8732143
chr1:8732359 T
T
 C
C
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.-144-75918A>G
c.-144-75918A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8732359
chr1:8732758 A
A
 ATG
ATG
 5 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(2): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
 5 HG02622.hp1
HG02886.hp2
HG03130.hp1
others(2): Show 
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.-144-76319_-144-76
others(8): Show 
c.-144-76319_-144-76318dupCA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8732758
chr1:8732779 T
T
 C
C
 2 a0001c0001t0003g0115
a0001c0001t0023g0113
a0001c0001t0003g0115
a0001c0001t0023g0113
 2 HG00544.hp1
HG00597.hp1
HG00544.hp1
HG00597.hp1
 intron_variant MODIFIER c.-144-76338A>G
c.-144-76338A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8732779
chr1:8732808 CT
CT
 C
C
 80 a0001c0001t0001g0051
a0001c0001t0001g0060
a0001c0001t0003g0087
others(77): Show 
a0001c0001t0001g0051
a0001c0001t0001g0060
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0157
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0032g0155
a0001c0002t0035g0160
a0001c0003t0004g0012
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0003t0011g0112
a0001c0003t0017g0032
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0005t0009g0200
a0001c0005t0034g0156
a0001c0007t0003g0084
a0001c0007t0003g0099
a0001c0014t0002g0191
a0001c0018t0001g0005
a0001c0022t0008g0082
a0001c0024t0002g0182
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0094
a0003c0008t0001g0031
a0007c0020t0039g0197
a0008c0017t0003g0101
a0010c0027t0003g0086
 80 HG00280.hp2
HG00544.hp1
HG00544.hp2
others(77): Show 
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01255.hp2
HG01261.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01934.hp1
HG01934.hp2
HG01981.hp2
HG02004.hp1
HG02074.hp1
HG02080.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02155.hp2
HG02165.hp1
HG02293.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp2
HG02602.hp1
HG02622.hp1
HG02683.hp2
HG02698.hp2
HG02735.hp1
HG02735.hp2
HG02896.hp2
HG03130.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04228.hp2
HG06807.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp2
NA18964.hp1
NA18967.hp2
NA18973.hp1
NA18983.hp1
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA19043.hp1
NA19070.hp1
NA19074.hp2
NA19085.hp1
NA19090.hp2
NA20129.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.-144-76368delA
c.-144-76368delA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8732808
chr1:8732808 CTT
CTT
 C
C
 79 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(76): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0075
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0016g0054
a0001c0001t0031g0144
a0001c0002t0005g0125
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0011g0108
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0004t0040g0199
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0023t0002g0175
a0002c0006t0003g0139
a0002c0026t0008g0140
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
 79 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(76): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01884.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp2
HG02622.hp2
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02965.hp1
HG02970.hp2
HG02976.hp2
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03453.hp1
HG03471.hp1
HG03491.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03831.hp1
HG03831.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp2
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp2
NA18983.hp2
NA18993.hp2
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-144-76369_-144-76
others(8): Show 
c.-144-76369_-144-76368delAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8732808
chr1:8732808 CTTTTTTT
others(2): Show 
CTTTTTTTTT
 C
C
 17 a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
others(14): Show 
a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0018g0002
a0001c0004t0001g0003
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0005t0026g0127
a0001c0016t0020g0001
a0009c0021t0003g0135
 17 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(14): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02559.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02965.hp2
HG03225.hp1
HG03471.hp2
HG03579.hp2
HG04184.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.-144-76376_-144-76
others(15): Show 
c.-144-76376_-144-76368delAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8732808
chr1:8732963 A
A
 C
C
 93 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(90): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0018t0001g0005
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
 93 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(90): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01884.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03453.hp1
HG03471.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-144-76522T>G
c.-144-76522T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8732963
chr1:8732970 C
C
 T
T
 2 a0001c0001t0001g0013
a0001c0001t0003g0141
a0001c0001t0001g0013
a0001c0001t0003g0141
 2 HG01192.hp2
HG02683.hp1
HG01192.hp2
HG02683.hp1
 intron_variant MODIFIER c.-144-76529G>A
c.-144-76529G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8732970
chr1:8733152 A
A
 C
C
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.-144-76711T>G
c.-144-76711T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8733152
chr1:8733247 A
A
 G
G
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.-144-76806T>C
c.-144-76806T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8733247
chr1:8733475 T
T
 C
C
 18 a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
others(15): Show 
a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0005t0026g0127
a0001c0016t0020g0001
a0001c0019t0014g0119
a0009c0021t0003g0135
 18 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(15): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02559.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02965.hp2
HG03195.hp2
HG03225.hp1
HG03471.hp2
HG03579.hp2
NA18906.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.-144-77034A>G
c.-144-77034A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8733475
chr1:8733597 C
C
 T
T
 2 a0001c0002t0005g0110
a0005c0013t0029g0111
a0001c0002t0005g0110
a0005c0013t0029g0111
 2 HG02723.hp1
HG03041.hp1
HG02723.hp1
HG03041.hp1
 intron_variant MODIFIER c.-144-77156G>A
c.-144-77156G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8733597
chr1:8733800 T
T
 C
C
 5 a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
others(2): Show 
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0014t0002g0191
 5 HG01168.hp1
HG01169.hp1
HG01255.hp2
others(2): Show 
HG01168.hp1
HG01169.hp1
HG01255.hp2
HG01361.hp1
HG04228.hp1
 intron_variant MODIFIER c.-144-77359A>G
c.-144-77359A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8733800
chr1:8734033 A
A
 AG
AG
 58 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(55): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0122
a0001c0001t0006g0181
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0005t0026g0127
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0016t0020g0001
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0005c0013t0029g0111
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 58 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(55): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00741.hp2
HG01167.hp1
HG01175.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02293.hp1
HG02559.hp1
HG02723.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02965.hp2
HG03041.hp1
HG03195.hp2
HG03225.hp1
HG03471.hp2
HG03491.hp1
HG03579.hp2
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
NA18906.hp2
NA18944.hp2
NA18964.hp1
NA18983.hp1
NA18985.hp1
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-144-77593dupC
c.-144-77593dupC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8734033
chr1:8734056 G
G
 A
A
 1 a0001c0002t0032g0155
a0001c0002t0032g0155
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.-144-77615C>T
c.-144-77615C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8734056
chr1:8734076 C
C
 T
T
 1 a0001c0002t0002g0164
a0001c0002t0002g0164
 1 HG02129.hp1
HG02129.hp1
 intron_variant MODIFIER c.-144-77635G>A
c.-144-77635G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8734076
chr1:8734172 T
T
 A
A
 12 a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
others(9): Show 
a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0004t0022g0121
a0009c0021t0003g0135
 12 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(9): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03225.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.-144-77731A>T
c.-144-77731A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8734172
chr1:8734351 G
G
 A
A
 36 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(33): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0008c0017t0003g0101
a0010c0027t0003g0086
 36 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(33): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00741.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02735.hp2
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18983.hp1
NA18985.hp1
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.-144-77910C>T
c.-144-77910C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8734351
chr1:8734736 T
T
 C
C
 2 a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0041
a0001c0003t0004g0042
 2 NA18939.hp1
NA18993.hp1
NA18939.hp1
NA18993.hp1
 intron_variant MODIFIER c.-144-78295A>G
c.-144-78295A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8734736
chr1:8734791 A
A
 C
C
 6 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
others(3): Show 
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0005t0034g0156
a0001c0009t0041g0198
 6 HG02145.hp1
HG02622.hp1
HG02886.hp2
others(3): Show 
HG02145.hp1
HG02622.hp1
HG02886.hp2
HG03130.hp1
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.-144-78350T>G
c.-144-78350T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8734791
chr1:8734996 T
T
 C
C
 3 a0001c0001t0030g0143
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0001t0030g0143
a0001c0007t0003g0084
a0001c0007t0003g0098
 3 HG02155.hp2
NA18983.hp1
NA19000.hp1
HG02155.hp2
NA18983.hp1
NA19000.hp1
 intron_variant MODIFIER c.-144-78555A>G
c.-144-78555A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8734996
chr1:8735351 C
C
 T
T
 1 a0001c0002t0006g0145
a0001c0002t0006g0145
 1 HG03491.hp1
HG03491.hp1
 intron_variant MODIFIER c.-144-78910G>A
c.-144-78910G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8735351
chr1:8735492 T
T
 C
C
 18 a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
others(15): Show 
a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0005t0026g0127
a0001c0016t0020g0001
a0001c0019t0014g0119
a0009c0021t0003g0135
 18 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(15): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02559.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02965.hp2
HG03195.hp2
HG03225.hp1
HG03471.hp2
HG03579.hp2
NA18906.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.-144-79051A>G
c.-144-79051A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8735492
chr1:8735843 TC
TC
 T
T
 7 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(4): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0007c0020t0039g0197
 7 HG02109.hp1
HG02257.hp2
HG02818.hp1
others(4): Show 
HG02109.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.-144-79403delG
c.-144-79403delG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8735843
chr1:8736188 A
A
 AGTTT
AGTTT
 2 a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0188
a0001c0002t0002g0189
 2 HG01168.hp1
HG01169.hp1
HG01168.hp1
HG01169.hp1
 intron_variant MODIFIER c.-144-79751_-144-79
others(10): Show 
c.-144-79751_-144-79748dupAAAC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8736188
chr1:8736188 AGTTT
AGTTT
 A
A
 72 a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
others(69): Show 
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0003g0122
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0002t0002g0157
a0001c0002t0002g0168
a0001c0002t0005g0110
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0078
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0003g0109
a0001c0004t0005g0123
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0009c0021t0003g0135
 72 HG00140.hp1
HG00544.hp2
HG00639.hp2
others(69): Show 
HG00140.hp1
HG00544.hp2
HG00639.hp2
HG00741.hp1
HG01167.hp1
HG01168.hp2
HG01175.hp2
HG01192.hp1
HG01255.hp1
HG01358.hp2
HG01361.hp2
HG01884.hp1
HG01884.hp2
HG01981.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03540.hp2
HG03579.hp2
HG03654.hp2
HG03831.hp1
HG04115.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp1
NA18973.hp1
NA19009.hp2
NA19043.hp2
NA20129.hp2
NA20300.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-144-79751_-144-79
others(10): Show 
c.-144-79751_-144-79748delAAAC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8736188
chr1:8736188 AGTTTGTT
others(1): Show 
AGTTTGTTT
 A
A
 43 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(40): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0005t0009g0200
a0001c0005t0009g0204
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0008c0017t0003g0101
a0010c0027t0003g0086
 43 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(40): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00741.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02523.hp2
HG02735.hp2
HG02818.hp1
HG03491.hp1
HG03516.hp1
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
NA18939.hp1
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.-144-79755_-144-79
others(14): Show 
c.-144-79755_-144-79748delAAACAAAC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8736188
chr1:8736190 TTTG
TTTG
 T
T
 50 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0038
others(47): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0036g0194
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0003t0004g0068
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0018t0001g0005
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
 50 HG00140.hp2
HG00280.hp1
HG00597.hp2
others(47): Show 
HG00140.hp2
HG00280.hp1
HG00597.hp2
HG00609.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01261.hp1
HG01433.hp1
HG01496.hp2
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp2
HG02293.hp1
HG02486.hp2
HG02523.hp1
HG02647.hp1
HG02683.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03453.hp1
HG03491.hp2
HG03688.hp1
HG03831.hp2
HG04184.hp2
HG04199.hp2
NA18944.hp1
NA18964.hp2
NA18967.hp1
NA18983.hp2
NA18985.hp2
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.-144-79752_-144-79
others(9): Show 
c.-144-79752_-144-79750delCAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8736190
chr1:8736342 G
G
 A
A
 1 a0001c0001t0003g0102
a0001c0001t0003g0102
 1 HG03688.hp2
HG03688.hp2
 intron_variant MODIFIER c.-144-79901C>T
c.-144-79901C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8736342
chr1:8736851 G
G
 GA
GA
 5 a0001c0002t0002g0192
a0001c0002t0035g0160
a0001c0004t0010g0107
others(2): Show 
a0001c0002t0002g0192
a0001c0002t0035g0160
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0014t0002g0191
 5 HG01175.hp1
HG01361.hp1
HG02886.hp2
others(2): Show 
HG01175.hp1
HG01361.hp1
HG02886.hp2
HG03453.hp2
HG03669.hp2
 intron_variant MODIFIER c.-145+80308dupT
c.-145+80308dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8736851
chr1:8736851 GA
GA
 G
G
 89 a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
others(86): Show 
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0036g0194
a0001c0002t0002g0151
a0001c0002t0013g0053
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0011g0108
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0005g0123
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0022g0121
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0026g0127
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0090
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0006c0025t0007g0025
 89 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(86): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00639.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01261.hp2
HG01496.hp2
HG01884.hp2
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03491.hp2
HG03516.hp1
HG03579.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19085.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-145+80308delT
c.-145+80308delT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8736851
chr1:8736851 GAA
GAA
 G
G
 17 a0001c0001t0001g0004
a0001c0001t0001g0064
a0001c0002t0005g0125
others(14): Show 
a0001c0001t0001g0004
a0001c0001t0001g0064
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0004t0001g0049
a0001c0004t0014g0126
a0002c0006t0003g0139
a0005c0013t0021g0023
a0007c0020t0039g0197
a0009c0021t0003g0135
 17 HG00597.hp2
HG00609.hp2
HG01175.hp2
others(14): Show 
HG00597.hp2
HG00609.hp2
HG01175.hp2
HG01361.hp2
HG01884.hp1
HG02109.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02965.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG06807.hp1
NA18906.hp2
NA19074.hp1
 intron_variant MODIFIER c.-145+80307_-145+80
others(8): Show 
c.-145+80307_-145+80308delTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8736851
chr1:8736852 A
A
 G
G
 1 a0001c0003t0008g0085
a0001c0003t0008g0085
 1 HG01934.hp1
HG01934.hp1
 intron_variant MODIFIER c.-145+80308T>C
c.-145+80308T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8736852
chr1:8736853 A
A
 G
G
 1 a0001c0003t0004g0012
a0001c0003t0004g0012
 1 HG00544.hp2
HG00544.hp2
 intron_variant MODIFIER c.-145+80307T>C
c.-145+80307T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8736853
chr1:8736860 A
A
 G
G
 1 a0001c0001t0003g0087
a0001c0001t0003g0087
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.-145+80300T>C
c.-145+80300T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8736860
chr1:8736863 A
A
 C
C
 1 a0003c0008t0001g0071
a0003c0008t0001g0071
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.-145+80297T>G
c.-145+80297T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8736863
chr1:8736871 A
A
 AC
AC
 2 a0001c0001t0003g0115
a0001c0003t0008g0105
a0001c0001t0003g0115
a0001c0003t0008g0105
 2 HG00597.hp1
HG00741.hp2
HG00597.hp1
HG00741.hp2
 intron_variant MODIFIER c.-145+80288_-145+80
others(7): Show 
c.-145+80288_-145+80289insG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8736871
chr1:8736871 A
A
 C
C
 59 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(56): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0006g0181
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0005t0026g0127
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0016t0020g0001
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0005c0013t0029g0111
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 59 HG00280.hp2
HG00544.hp1
HG00609.hp1
others(56): Show 
HG00280.hp2
HG00544.hp1
HG00609.hp1
HG00639.hp1
HG01167.hp1
HG01175.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02523.hp2
HG02559.hp1
HG02723.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02965.hp2
HG03041.hp1
HG03195.hp2
HG03225.hp1
HG03471.hp2
HG03491.hp1
HG03579.hp2
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
NA18906.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-145+80289T>G
c.-145+80289T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8736871
chr1:8737028 C
C
 T
T
 3 a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
 3 HG02145.hp1
HG02970.hp2
HG06807.hp1
HG02145.hp1
HG02970.hp2
HG06807.hp1
 intron_variant MODIFIER c.-145+80132G>A
c.-145+80132G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8737028
chr1:8737482 C
C
 T
T
 1 a0001c0002t0002g0187
a0001c0002t0002g0187
 1 HG04228.hp1
HG04228.hp1
 intron_variant MODIFIER c.-145+79678G>A
c.-145+79678G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8737482
chr1:8737583 A
A
 AT
AT
 21 a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
others(18): Show 
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0002t0002g0177
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0019
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0015g0147
 21 HG00140.hp2
HG00280.hp1
HG00544.hp2
others(18): Show 
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00639.hp2
HG01169.hp2
HG01261.hp1
HG01358.hp2
HG01496.hp2
HG02258.hp2
HG02280.hp2
HG02486.hp2
HG02698.hp1
HG03209.hp2
HG03654.hp2
NA18939.hp1
NA18946.hp1
NA18973.hp1
NA18993.hp1
NA19009.hp2
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-145+79576dupA
c.-145+79576dupA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8737583
chr1:8737998 T
T
 C
C
 3 a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
 3 HG02145.hp1
HG02970.hp2
HG06807.hp1
HG02145.hp1
HG02970.hp2
HG06807.hp1
 intron_variant MODIFIER c.-145+79162A>G
c.-145+79162A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8737998
chr1:8738218 C
C
 T
T
 1 a0001c0007t0001g0008
a0001c0007t0001g0008
 1 HG03831.hp1
HG03831.hp1
 intron_variant MODIFIER c.-145+78942G>A
c.-145+78942G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8738218
chr1:8738335 T
T
 A
A
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-145+78825A>T
c.-145+78825A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8738335
chr1:8738399 T
T
 C
C
 3 a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0033g0186
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0033g0186
 3 HG01515.hp2
HG01517.hp1
HG02486.hp1
HG01515.hp2
HG01517.hp1
HG02486.hp1
 intron_variant MODIFIER c.-145+78761A>G
c.-145+78761A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8738399
chr1:8738468 G
G
 A
A
 5 a0001c0004t0005g0123
a0002c0006t0003g0139
a0002c0026t0008g0140
others(2): Show 
a0001c0004t0005g0123
a0002c0006t0003g0139
a0002c0026t0008g0140
a0004c0012t0008g0137
a0004c0012t0008g0138
 5 HG01361.hp2
HG01981.hp1
HG02602.hp2
others(2): Show 
HG01361.hp2
HG01981.hp1
HG02602.hp2
HG02976.hp2
HG03195.hp1
 intron_variant MODIFIER c.-145+78692C>T
c.-145+78692C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8738468
chr1:8738706 C
C
 T
T
 1 a0001c0004t0006g0146
a0001c0004t0006g0146
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.-145+78454G>A
c.-145+78454G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8738706
chr1:8738922 T
T
 G
G
 1 a0001c0003t0004g0017
a0001c0003t0004g0017
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.-145+78238A>C
c.-145+78238A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8738922
chr1:8739085 G
G
 A
A
 3 a0001c0001t0001g0033
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0001t0001g0033
a0001c0003t0012g0018
a0001c0003t0012g0022
 3 HG01884.hp2
HG02622.hp2
NA19043.hp2
HG01884.hp2
HG02622.hp2
NA19043.hp2
 intron_variant MODIFIER c.-145+78075C>T
c.-145+78075C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8739085
chr1:8739406 G
G
 A
A
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-145+77754C>T
c.-145+77754C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8739406
chr1:8739547 A
A
 G
G
 1 a0001c0002t0002g0165
a0001c0002t0002g0165
 1 NA19085.hp1
NA19085.hp1
 intron_variant MODIFIER c.-145+77613T>C
c.-145+77613T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8739547
chr1:8739752 C
C
 T
T
 5 a0001c0004t0005g0123
a0002c0006t0003g0139
a0002c0026t0008g0140
others(2): Show 
a0001c0004t0005g0123
a0002c0006t0003g0139
a0002c0026t0008g0140
a0004c0012t0008g0137
a0004c0012t0008g0138
 5 HG01361.hp2
HG01981.hp1
HG02602.hp2
others(2): Show 
HG01361.hp2
HG01981.hp1
HG02602.hp2
HG02976.hp2
HG03195.hp1
 intron_variant MODIFIER c.-145+77408G>A
c.-145+77408G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8739752
chr1:8739771 A
A
 G
G
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.-145+77389T>C
c.-145+77389T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8739771
chr1:8739823 TTAA
TTAA
 T
T
 92 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(89): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0036g0194
a0001c0002t0002g0157
a0001c0002t0005g0125
a0001c0002t0013g0053
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0018t0001g0005
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
 92 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(89): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01496.hp2
HG01884.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03453.hp1
HG03471.hp1
HG03491.hp2
HG03540.hp2
HG03579.hp1
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-145+77334_-145+77
others(9): Show 
c.-145+77334_-145+77336delTTA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8739823
chr1:8739891 T
T
 C
C
 1 a0001c0001t0001g0069
a0001c0001t0001g0069
 1 NA19000.hp2
NA19000.hp2
 intron_variant MODIFIER c.-145+77269A>G
c.-145+77269A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8739891
chr1:8740061 C
C
 G
G
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.-145+77099G>C
c.-145+77099G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8740061
chr1:8740189 G
G
 A
A
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-145+76971C>T
c.-145+76971C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8740189
chr1:8740190 T
T
 C
C
 1 a0010c0027t0003g0086
a0010c0027t0003g0086
 1 NA18985.hp1
NA18985.hp1
 intron_variant MODIFIER c.-145+76970A>G
c.-145+76970A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8740190
chr1:8740721 T
T
 C
C
 47 a0001c0001t0001g0073
a0001c0001t0003g0087
a0001c0001t0003g0088
others(44): Show 
a0001c0001t0001g0073
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0003c0008t0001g0006
a0003c0008t0001g0071
a0003c0008t0001g0072
a0005c0013t0029g0111
a0008c0017t0003g0101
a0010c0027t0003g0086
 47 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(44): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00741.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02523.hp2
HG02647.hp1
HG02723.hp1
HG02735.hp2
HG02970.hp1
HG03041.hp1
HG03041.hp2
HG03139.hp1
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.-145+76439A>G
c.-145+76439A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8740721
chr1:8741368 T
T
 C
C
 1 a0001c0002t0002g0174
a0001c0002t0002g0174
 1 NA18946.hp2
NA18946.hp2
 intron_variant MODIFIER c.-145+75792A>G
c.-145+75792A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8741368
chr1:8741502 G
G
 A
A
 2 a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0004g0016
a0001c0009t0004g0020
 2 HG01168.hp2
HG01255.hp1
HG01168.hp2
HG01255.hp1
 intron_variant MODIFIER c.-145+75658C>T
c.-145+75658C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8741502
chr1:8741522 C
C
 T
T
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.-145+75638G>A
c.-145+75638G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8741522
chr1:8741556 T
T
 C
C
 17 a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
others(14): Show 
a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0005t0026g0127
a0001c0016t0020g0001
a0009c0021t0003g0135
 17 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(14): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02559.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02965.hp2
HG03225.hp1
HG03471.hp2
HG03579.hp2
NA18906.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.-145+75604A>G
c.-145+75604A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8741556
chr1:8741598 C
C
 CA
CA
 3 a0001c0002t0002g0152
a0001c0002t0002g0162
a0001c0002t0002g0179
a0001c0002t0002g0152
a0001c0002t0002g0162
a0001c0002t0002g0179
 3 HG02559.hp2
HG03516.hp2
HG03540.hp1
HG02559.hp2
HG03516.hp2
HG03540.hp1
 intron_variant MODIFIER c.-145+75561dupT
c.-145+75561dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8741598
chr1:8741735 T
T
 TTTATAAA
others(39): Show 
TTTATAAATTTCCTTTATAAATTACCCTTTATAAATTTCCTTTATAA
 1 a0001c0001t0003g0115
a0001c0001t0003g0115
 1 HG00597.hp1
HG00597.hp1
 intron_variant MODIFIER c.-145+75424_-145+75
others(52): Show 
c.-145+75424_-145+75425insTTATAAAGGAAATTTATAAAGGGT
AATTTATAAAGGAAATTTATAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8741735
chr1:8741736 C
C
 A
A
 1 a0001c0001t0003g0115
a0001c0001t0003g0115
 1 HG00597.hp1
HG00597.hp1
 intron_variant MODIFIER c.-145+75424G>T
c.-145+75424G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8741736
chr1:8742159 T
T
 G
G
 1 a0001c0004t0003g0109
a0001c0004t0003g0109
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.-145+75001A>C
c.-145+75001A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8742159
chr1:8742282 T
T
 C
C
 1 a0001c0002t0002g0167
a0001c0002t0002g0167
 1 HG02735.hp1
HG02735.hp1
 intron_variant MODIFIER c.-145+74878A>G
c.-145+74878A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8742282
chr1:8742353 C
C
 T
T
 1 a0001c0001t0003g0088
a0001c0001t0003g0088
 1 HG01496.hp1
HG01496.hp1
 intron_variant MODIFIER c.-145+74807G>A
c.-145+74807G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8742353
chr1:8742394 A
A
 ATATT
ATATT
 3 a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0007t0004g0044
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0007t0004g0044
 3 NA18939.hp1
NA18964.hp2
NA18993.hp1
NA18939.hp1
NA18964.hp2
NA18993.hp1
 intron_variant MODIFIER c.-145+74765_-145+74
others(10): Show 
c.-145+74765_-145+74766insAATA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8742394
chr1:8742729 G
G
 A
A
 5 a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
others(2): Show 
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
 5 HG02109.hp1
HG02257.hp2
HG02818.hp1
others(2): Show 
HG02109.hp1
HG02257.hp2
HG02818.hp1
HG03209.hp1
HG03516.hp1
 intron_variant MODIFIER c.-145+74431C>T
c.-145+74431C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8742729
chr1:8742866 T
T
 TA
TA
 3 a0001c0001t0003g0087
a0001c0001t0003g0117
a0001c0003t0011g0112
a0001c0001t0003g0087
a0001c0001t0003g0117
a0001c0003t0011g0112
 3 HG02683.hp2
HG03669.hp1
NA18973.hp2
HG02683.hp2
HG03669.hp1
NA18973.hp2
 intron_variant MODIFIER c.-145+74293_-145+74
others(7): Show 
c.-145+74293_-145+74294insT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8742866
chr1:8742867 C
C
 A
A
 41 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(38): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0008c0017t0003g0101
a0010c0027t0003g0086
 41 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(38): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00741.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02523.hp2
HG02683.hp2
HG02735.hp2
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
HG06807.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.-145+74293G>T
c.-145+74293G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8742867
chr1:8742867 C
C
 CA
CA
 31 a0001c0001t0001g0050
a0001c0001t0001g0067
a0001c0001t0001g0076
others(28): Show 
a0001c0001t0001g0050
a0001c0001t0001g0067
a0001c0001t0001g0076
a0001c0001t0003g0122
a0001c0001t0036g0194
a0001c0002t0002g0157
a0001c0002t0002g0164
a0001c0002t0002g0180
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0016t0020g0001
a0001c0023t0002g0175
a0003c0008t0001g0072
 31 HG01884.hp1
HG02080.hp2
HG02109.hp1
others(28): Show 
HG01884.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02145.hp2
HG02257.hp2
HG02559.hp1
HG02622.hp1
HG02647.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02965.hp2
HG03130.hp1
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03471.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03831.hp2
NA18906.hp2
NA18939.hp2
NA18985.hp2
NA19005.hp1
NA19090.hp1
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.-145+74292dupT
c.-145+74292dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8742867
chr1:8742903 T
T
 G
G
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-145+74257A>C
c.-145+74257A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8742903
chr1:8743035 T
T
 G
G
 3 a0001c0001t0001g0067
a0001c0001t0003g0124
a0001c0002t0013g0053
a0001c0001t0001g0067
a0001c0001t0003g0124
a0001c0002t0013g0053
 3 HG03491.hp2
HG03831.hp2
NA20905.hp1
HG03491.hp2
HG03831.hp2
NA20905.hp1
 intron_variant MODIFIER c.-145+74125A>C
c.-145+74125A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8743035
chr1:8743039 T
T
 C
C
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.-145+74121A>G
c.-145+74121A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8743039
chr1:8743157 A
A
 C
C
 43 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(40): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0005c0013t0029g0111
a0008c0017t0003g0101
a0010c0027t0003g0086
 43 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(40): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00741.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02523.hp2
HG02683.hp2
HG02723.hp1
HG02735.hp2
HG03041.hp1
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
HG06807.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.-145+74003T>G
c.-145+74003T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8743157
chr1:8743404 G
G
 C
C
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-145+73756C>G
c.-145+73756C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8743404
chr1:8743426 A
A
 AT
AT
 8 a0001c0001t0001g0013
a0001c0002t0002g0148
a0001c0002t0002g0168
others(5): Show 
a0001c0001t0001g0013
a0001c0002t0002g0148
a0001c0002t0002g0168
a0001c0002t0002g0178
a0001c0002t0002g0187
a0001c0002t0002g0192
a0001c0002t0033g0186
a0001c0004t0005g0123
 8 HG00741.hp1
HG01175.hp1
HG01192.hp2
others(5): Show 
HG00741.hp1
HG01175.hp1
HG01192.hp2
HG02293.hp2
HG02486.hp1
HG02602.hp2
HG04184.hp1
HG04228.hp1
 intron_variant MODIFIER c.-145+73733dupA
c.-145+73733dupA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8743426
chr1:8743426 AT
AT
 A
A
 151 a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0033
others(148): Show 
a0001c0001t0001g0004
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 151 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(148): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-145+73733delA
c.-145+73733delA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8743426
chr1:8743715 C
C
 G
G
 1 a0007c0020t0039g0197
a0007c0020t0039g0197
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.-145+73445G>C
c.-145+73445G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8743715
chr1:8743729 A
A
 G
G
 1 a0001c0010t0013g0024
a0001c0010t0013g0024
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.-145+73431T>C
c.-145+73431T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8743729
chr1:8743743 C
C
 CAG
CAG
 3 a0001c0001t0001g0038
a0001c0001t0001g0046
a0001c0001t0001g0052
a0001c0001t0001g0038
a0001c0001t0001g0046
a0001c0001t0001g0052
 3 HG02165.hp2
HG02523.hp1
NA18983.hp2
HG02165.hp2
HG02523.hp1
NA18983.hp2
 intron_variant MODIFIER c.-145+73415_-145+73
others(8): Show 
c.-145+73415_-145+73416dupCT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8743743
chr1:8743974 T
T
 C
C
 127 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(124): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0002g0161
a0001c0002t0002g0163
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0142
a0001c0004t0025g0080
a0001c0005t0019g0030
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0015t0001g0009
a0001c0018t0001g0005
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0031
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
a0008c0017t0003g0101
a0010c0027t0003g0086
 127 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(124): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02132.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02293.hp1
HG02451.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03471.hp1
HG03491.hp1
HG03491.hp2
HG03540.hp2
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-145+73186A>G
c.-145+73186A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8743974
chr1:8744178 A
A
 G
G
 42 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(39): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0006g0181
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0003t0004g0014
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0004t0003g0092
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0008c0017t0003g0101
a0010c0027t0003g0086
 42 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(39): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00741.hp2
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02523.hp2
HG02683.hp2
HG02735.hp2
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
HG06807.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.-145+72982T>C
c.-145+72982T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8744178
chr1:8744234 C
C
 T
T
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.-145+72926G>A
c.-145+72926G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8744234
chr1:8744243 G
G
 T
T
 2 a0001c0002t0005g0110
a0005c0013t0029g0111
a0001c0002t0005g0110
a0005c0013t0029g0111
 2 HG02723.hp1
HG03041.hp1
HG02723.hp1
HG03041.hp1
 intron_variant MODIFIER c.-145+72917C>A
c.-145+72917C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8744243
chr1:8744321 G
G
 A
A
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.-145+72839C>T
c.-145+72839C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8744321
chr1:8744362 T
T
 C
C
 3 a0001c0002t0002g0148
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0148
a0001c0002t0002g0158
a0001c0002t0002g0159
 3 HG03654.hp1
HG04184.hp1
NA20752.hp1
HG03654.hp1
HG04184.hp1
NA20752.hp1
 intron_variant MODIFIER c.-145+72798A>G
c.-145+72798A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8744362
chr1:8744384 A
A
 G
G
 5 a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0004t0006g0146
others(2): Show 
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0004t0006g0146
a0001c0007t0003g0084
a0001c0007t0003g0098
 5 HG02683.hp2
HG06807.hp2
NA18983.hp1
others(2): Show 
HG02683.hp2
HG06807.hp2
NA18983.hp1
NA19000.hp1
NA19043.hp1
 intron_variant MODIFIER c.-145+72776T>C
c.-145+72776T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8744384
chr1:8744386 C
C
 T
T
 1 a0001c0001t0006g0181
a0001c0001t0006g0181
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.-145+72774G>A
c.-145+72774G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8744386
chr1:8744668 T
T
 C
C
 2 a0001c0002t0002g0149
a0001c0002t0035g0160
a0001c0002t0002g0149
a0001c0002t0035g0160
 2 HG02602.hp1
HG03669.hp2
HG02602.hp1
HG03669.hp2
 intron_variant MODIFIER c.-145+72492A>G
c.-145+72492A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8744668
chr1:8744829 C
C
 G
G
 44 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(41): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0005c0013t0029g0111
a0008c0017t0003g0101
a0010c0027t0003g0086
 44 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(41): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00741.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02523.hp2
HG02683.hp2
HG02723.hp1
HG02735.hp2
HG03041.hp1
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04228.hp2
HG06807.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.-145+72331G>C
c.-145+72331G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8744829
chr1:8744938 A
A
 G
G
 47 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(44): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0005c0013t0029g0111
a0008c0017t0003g0101
a0010c0027t0003g0086
 47 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(44): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00741.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02523.hp2
HG02683.hp2
HG02723.hp1
HG02735.hp2
HG02886.hp2
HG03041.hp1
HG03195.hp2
HG03453.hp2
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04228.hp2
HG06807.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.-145+72222T>C
c.-145+72222T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8744938
chr1:8745149 T
T
 C
C
 1 a0008c0017t0003g0101
a0008c0017t0003g0101
 1 NA20905.hp2
NA20905.hp2
 intron_variant MODIFIER c.-145+72011A>G
c.-145+72011A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8745149
chr1:8745152 T
T
 C
C
 2 a0001c0002t0018g0002
a0001c0016t0020g0001
a0001c0002t0018g0002
a0001c0016t0020g0001
 2 HG02559.hp1
NA20129.hp2
HG02559.hp1
NA20129.hp2
 intron_variant MODIFIER c.-145+72008A>G
c.-145+72008A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8745152
chr1:8745377 T
T
 A
A
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.-145+71783A>T
c.-145+71783A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8745377
chr1:8745437 A
A
 G
G
 1 a0001c0004t0022g0121
a0001c0004t0022g0121
 1 HG02257.hp1
HG02257.hp1
 intron_variant MODIFIER c.-145+71723T>C
c.-145+71723T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8745437
chr1:8745663 C
C
 T
T
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.-145+71497G>A
c.-145+71497G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8745663
chr1:8745811 G
G
 A
A
 1 a0001c0002t0005g0125
a0001c0002t0005g0125
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.-145+71349C>T
c.-145+71349C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8745811
chr1:8745947 G
G
 A
A
 1 a0001c0002t0002g0152
a0001c0002t0002g0152
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.-145+71213C>T
c.-145+71213C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8745947
chr1:8746163 T
T
 C
C
 1 a0001c0003t0011g0108
a0001c0003t0011g0108
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.-145+70997A>G
c.-145+70997A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8746163
chr1:8746286 G
G
 C
C
 46 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(43): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0005c0013t0029g0111
a0008c0017t0003g0101
a0010c0027t0003g0086
 46 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(43): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00741.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02523.hp2
HG02683.hp2
HG02723.hp1
HG02735.hp2
HG02886.hp2
HG03041.hp1
HG03195.hp2
HG03453.hp2
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04228.hp2
HG06807.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.-145+70874C>G
c.-145+70874C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8746286
chr1:8746366 C
C
 A
A
 1 a0001c0002t0005g0129
a0001c0002t0005g0129
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.-145+70794G>T
c.-145+70794G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8746366
chr1:8746584 C
C
 T
T
 1 a0001c0004t0010g0120
a0001c0004t0010g0120
 1 HG01167.hp1
HG01167.hp1
 intron_variant MODIFIER c.-145+70576G>A
c.-145+70576G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8746584
chr1:8746827 G
G
 A
A
 1 a0001c0002t0005g0125
a0001c0002t0005g0125
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.-145+70333C>T
c.-145+70333C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8746827
chr1:8746876 AAGAG
AAGAG
 A
A
 5 a0001c0001t0001g0040
a0001c0001t0003g0100
a0001c0001t0003g0103
others(2): Show 
a0001c0001t0001g0040
a0001c0001t0003g0100
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0003t0011g0096
 5 HG00609.hp1
HG02074.hp1
HG02155.hp1
others(2): Show 
HG00609.hp1
HG02074.hp1
HG02155.hp1
NA19007.hp2
NA19090.hp2
 intron_variant MODIFIER c.-145+70280_-145+70
others(10): Show 
c.-145+70280_-145+70283delCTCT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8746876
chr1:8747050 CG
CG
 C
C
 2 a0001c0002t0002g0149
a0001c0002t0035g0160
a0001c0002t0002g0149
a0001c0002t0035g0160
 2 HG02602.hp1
HG03669.hp2
HG02602.hp1
HG03669.hp2
 intron_variant MODIFIER c.-145+70109delC
c.-145+70109delC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8747050
chr1:8747064 C
C
 T
T
 1 a0001c0003t0008g0105
a0001c0003t0008g0105
 1 HG00741.hp2
HG00741.hp2
 intron_variant MODIFIER c.-145+70096G>A
c.-145+70096G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8747064
chr1:8747079 G
G
 A
A
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.-145+70081C>T
c.-145+70081C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8747079
chr1:8747126 C
C
 T
T
 2 a0001c0002t0002g0166
a0001c0002t0002g0174
a0001c0002t0002g0166
a0001c0002t0002g0174
 2 NA18946.hp2
NA19070.hp1
NA18946.hp2
NA19070.hp1
 intron_variant MODIFIER c.-145+70034G>A
c.-145+70034G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8747126
chr1:8747127 G
G
 A
A
 43 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(40): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0005c0013t0029g0111
a0008c0017t0003g0101
a0010c0027t0003g0086
 43 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(40): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00741.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02523.hp2
HG02683.hp2
HG02723.hp1
HG02735.hp2
HG03041.hp1
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04228.hp2
HG06807.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.-145+70033C>T
c.-145+70033C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8747127
chr1:8747400 C
C
 A
A
 1 a0001c0003t0004g0021
a0001c0003t0004g0021
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.-145+69760G>T
c.-145+69760G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8747400
chr1:8747850 C
C
 A
A
 20 a0001c0001t0003g0122
a0001c0002t0005g0125
a0001c0002t0005g0128
others(17): Show 
a0001c0001t0003g0122
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0005t0026g0127
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0016t0020g0001
a0009c0021t0003g0135
 20 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(17): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02280.hp1
HG02451.hp2
HG02559.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02965.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp2
HG03579.hp2
NA18906.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.-145+69310G>T
c.-145+69310G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8747850
chr1:8747890 T
T
 G
G
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-145+69270A>C
c.-145+69270A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8747890
chr1:8748074 G
G
 A
A
 1 a0001c0001t0003g0102
a0001c0001t0003g0102
 1 HG03688.hp2
HG03688.hp2
 intron_variant MODIFIER c.-145+69086C>T
c.-145+69086C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8748074
chr1:8748126 C
C
 T
T
 84 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(81): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0036g0194
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0015t0001g0009
a0001c0018t0001g0005
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
 84 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(81): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01496.hp2
HG01884.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02293.hp1
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03471.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-145+69034G>A
c.-145+69034G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8748126
chr1:8748477 T
T
 C
C
 1 a0001c0001t0001g0050
a0001c0001t0001g0050
 1 NA19005.hp1
NA19005.hp1
 intron_variant MODIFIER c.-145+68683A>G
c.-145+68683A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8748477
chr1:8748761 T
T
 A
A
 42 a0001c0001t0001g0004
a0001c0001t0001g0038
a0001c0001t0001g0039
others(39): Show 
a0001c0001t0001g0004
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0036g0194
a0001c0002t0013g0053
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0018t0001g0005
 42 HG00140.hp2
HG00280.hp1
HG00597.hp2
others(39): Show 
HG00140.hp2
HG00280.hp1
HG00597.hp2
HG00609.hp2
HG01167.hp2
HG01169.hp2
HG01261.hp1
HG01496.hp2
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp2
HG02293.hp1
HG02486.hp2
HG02523.hp1
HG03491.hp2
HG03688.hp1
HG03831.hp2
HG04184.hp2
HG04199.hp2
NA18939.hp1
NA18944.hp1
NA18964.hp2
NA18967.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.-145+68399A>T
c.-145+68399A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8748761
chr1:8748865 T
T
 A
A
 1 a0001c0004t0010g0142
a0001c0004t0010g0142
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.-145+68295A>T
c.-145+68295A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8748865
chr1:8748886 A
A
 G
G
 1 a0001c0004t0010g0120
a0001c0004t0010g0120
 1 HG01167.hp1
HG01167.hp1
 intron_variant MODIFIER c.-145+68274T>C
c.-145+68274T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8748886
chr1:8748950 C
C
 A
A
 1 a0001c0002t0002g0193
a0001c0002t0002g0193
 1 HG01358.hp1
HG01358.hp1
 intron_variant MODIFIER c.-145+68210G>T
c.-145+68210G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8748950
chr1:8749141 G
G
 A
A
 1 a0001c0003t0011g0108
a0001c0003t0011g0108
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.-145+68019C>T
c.-145+68019C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8749141
chr1:8749356 C
C
 T
T
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.-145+67804G>A
c.-145+67804G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8749356
chr1:8749379 G
G
 C
C
 1 a0001c0003t0004g0036
a0001c0003t0004g0036
 1 HG02698.hp1
HG02698.hp1
 intron_variant MODIFIER c.-145+67781C>G
c.-145+67781C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8749379
chr1:8749668 G
G
 A
A
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.-145+67492C>T
c.-145+67492C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8749668
chr1:8749691 G
G
 A
A
 1 a0001c0003t0017g0032
a0001c0003t0017g0032
 1 HG04115.hp2
HG04115.hp2
 intron_variant MODIFIER c.-145+67469C>T
c.-145+67469C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8749691
chr1:8749813 C
C
 G
G
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-145+67347G>C
c.-145+67347G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8749813
chr1:8750012 C
C
 T
T
 3 a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
 3 HG02109.hp1
HG02257.hp2
HG03209.hp1
HG02109.hp1
HG02257.hp2
HG03209.hp1
 intron_variant MODIFIER c.-145+67148G>A
c.-145+67148G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8750012
chr1:8750074 T
T
 A
A
 3 a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
 3 HG02145.hp1
HG02970.hp2
HG06807.hp1
HG02145.hp1
HG02970.hp2
HG06807.hp1
 intron_variant MODIFIER c.-145+67086A>T
c.-145+67086A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8750074
chr1:8750130 G
G
 A
A
 1 a0001c0001t0001g0061
a0001c0001t0001g0061
 1 NA20300.hp1
NA20300.hp1
 intron_variant MODIFIER c.-145+67030C>T
c.-145+67030C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8750130
chr1:8750150 C
C
 CAA
CAA
 15 a0001c0001t0001g0040
a0001c0001t0001g0052
a0001c0001t0036g0194
others(12): Show 
a0001c0001t0001g0040
a0001c0001t0001g0052
a0001c0001t0036g0194
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0034g0156
a0001c0009t0041g0198
a0001c0019t0014g0119
a0007c0020t0039g0197
 15 HG02109.hp1
HG02145.hp1
HG02155.hp1
others(12): Show 
HG02109.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp2
HG02622.hp1
HG02818.hp1
HG02970.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03516.hp1
HG03579.hp1
HG06807.hp1
NA18983.hp2
NA18985.hp2
 intron_variant MODIFIER c.-145+67008_-145+67
others(8): Show 
c.-145+67008_-145+67009dupTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8750150
chr1:8750150 C
C
 CAAA
CAAA
 76 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(73): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0055
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0003g0088
a0001c0001t0003g0095
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0002t0005g0110
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0012g0018
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0015t0001g0009
a0001c0018t0001g0005
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
 76 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(73): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01496.hp1
HG01884.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02293.hp1
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03471.hp1
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18993.hp1
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA20129.hp1
NA20300.hp1
NA20905.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-145+67007_-145+67
others(9): Show 
c.-145+67007_-145+67009dupTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8750150
chr1:8750150 C
C
 CAAAA
CAAAA
 45 a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0062
others(42): Show 
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0062
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0076
a0001c0001t0003g0087
a0001c0001t0003g0093
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0124
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0004t0003g0092
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0003c0008t0001g0006
a0004c0012t0008g0137
a0008c0017t0003g0101
a0010c0027t0003g0086
 45 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(42): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00741.hp2
HG01167.hp2
HG01169.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02523.hp2
HG02683.hp2
HG02970.hp1
HG03195.hp1
HG03491.hp1
HG03491.hp2
HG03669.hp1
HG03688.hp2
HG03831.hp2
HG04228.hp2
HG06807.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18985.hp1
NA18993.hp2
NA19000.hp2
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19009.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp1
NA19090.hp2
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.-145+67006_-145+67
others(10): Show 
c.-145+67006_-145+67009dupTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8750150
chr1:8750282 C
C
 T
T
 41 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(38): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0004t0003g0092
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0008c0017t0003g0101
a0010c0027t0003g0086
 41 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(38): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00741.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02523.hp2
HG02683.hp2
HG02735.hp2
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04228.hp2
HG06807.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.-145+66878G>A
c.-145+66878G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8750282
chr1:8750537 C
C
 T
T
 1 a0001c0003t0008g0085
a0001c0003t0008g0085
 1 HG01934.hp1
HG01934.hp1
 intron_variant MODIFIER c.-145+66623G>A
c.-145+66623G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8750537
chr1:8750590 A
A
 T
T
 1 a0001c0001t0003g0115
a0001c0001t0003g0115
 1 HG00597.hp1
HG00597.hp1
 intron_variant MODIFIER c.-145+66570T>A
c.-145+66570T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8750590
chr1:8750593 C
C
 T
T
 1 a0001c0001t0003g0115
a0001c0001t0003g0115
 1 HG00597.hp1
HG00597.hp1
 intron_variant MODIFIER c.-145+66567G>A
c.-145+66567G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8750593
chr1:8750594 A
A
 G
G
 1 a0001c0001t0003g0115
a0001c0001t0003g0115
 1 HG00597.hp1
HG00597.hp1
 intron_variant MODIFIER c.-145+66566T>C
c.-145+66566T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8750594
chr1:8750811 T
T
 C
C
 1 a0001c0002t0005g0110
a0001c0002t0005g0110
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.-145+66349A>G
c.-145+66349A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8750811
chr1:8750941 G
G
 A
A
 1 a0001c0001t0016g0054
a0001c0001t0016g0054
 1 HG02293.hp1
HG02293.hp1
 intron_variant MODIFIER c.-145+66219C>T
c.-145+66219C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8750941
chr1:8751346 C
C
 A
A
 1 a0001c0001t0001g0058
a0001c0001t0001g0058
 1 HG00280.hp1
HG00280.hp1
 intron_variant MODIFIER c.-145+65814G>T
c.-145+65814G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8751346
chr1:8751460 G
G
 C
C
 2 a0001c0002t0005g0125
a0001c0005t0026g0127
a0001c0002t0005g0125
a0001c0005t0026g0127
 2 HG03453.hp1
NA21309.hp1
HG03453.hp1
NA21309.hp1
 intron_variant MODIFIER c.-145+65700C>G
c.-145+65700C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8751460
chr1:8751470 G
G
 C
C
 1 a0001c0011t0007g0027
a0001c0011t0007g0027
 1 HG02723.hp2
HG02723.hp2
 intron_variant MODIFIER c.-145+65690C>G
c.-145+65690C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8751470
chr1:8751536 G
G
 A
A
 1 a0001c0002t0002g0148
a0001c0002t0002g0148
 1 HG04184.hp1
HG04184.hp1
 intron_variant MODIFIER c.-145+65624C>T
c.-145+65624C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8751536
chr1:8751575 T
T
 C
C
 1 a0001c0002t0005g0114
a0001c0002t0005g0114
 1 HG02004.hp1
HG02004.hp1
 intron_variant MODIFIER c.-145+65585A>G
c.-145+65585A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8751575
chr1:8751638 G
G
 A
A
 1 a0005c0013t0029g0111
a0005c0013t0029g0111
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.-145+65522C>T
c.-145+65522C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8751638
chr1:8751709 G
G
 A
A
 42 a0001c0001t0001g0004
a0001c0001t0001g0038
a0001c0001t0001g0039
others(39): Show 
a0001c0001t0001g0004
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0036g0194
a0001c0002t0013g0053
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0018t0001g0005
 42 HG00140.hp2
HG00280.hp1
HG00597.hp2
others(39): Show 
HG00140.hp2
HG00280.hp1
HG00597.hp2
HG00609.hp2
HG01167.hp2
HG01169.hp2
HG01261.hp1
HG01496.hp2
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp2
HG02293.hp1
HG02486.hp2
HG02523.hp1
HG03491.hp2
HG03688.hp1
HG03831.hp2
HG04184.hp2
HG04199.hp2
NA18939.hp1
NA18944.hp1
NA18964.hp2
NA18967.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.-145+65451C>T
c.-145+65451C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8751709
chr1:8751777 TA
TA
 T
T
 20 a0001c0001t0001g0056
a0001c0001t0001g0073
a0001c0001t0001g0074
others(17): Show 
a0001c0001t0001g0056
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0002t0002g0171
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0004t0005g0079
a0001c0004t0006g0146
a0001c0004t0010g0120
a0001c0004t0014g0126
a0001c0004t0022g0121
a0009c0021t0003g0135
 20 HG01167.hp1
HG01167.hp2
HG01175.hp2
others(17): Show 
HG01167.hp1
HG01167.hp2
HG01175.hp2
HG01515.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02965.hp2
HG02976.hp1
HG03139.hp1
HG03225.hp1
HG03471.hp2
HG03491.hp2
NA18906.hp2
NA19043.hp1
 intron_variant MODIFIER c.-145+65382delT
c.-145+65382delT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8751777
chr1:8751777 TAAAAA
TAAAAA
 T
T
 39 a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
others(36): Show 
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0003g0141
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0078
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0031
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
 39 HG00140.hp1
HG00544.hp2
HG00639.hp2
others(36): Show 
HG00140.hp1
HG00544.hp2
HG00639.hp2
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01358.hp2
HG01361.hp2
HG01884.hp2
HG01981.hp1
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02602.hp2
HG02622.hp2
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02976.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03471.hp1
HG03540.hp2
HG03654.hp2
HG03831.hp1
HG04115.hp2
NA18906.hp1
NA18946.hp1
NA18973.hp1
NA19009.hp2
NA19043.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-145+65378_-145+65
others(11): Show 
c.-145+65378_-145+65382delTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8751777
chr1:8751782 A
A
 T
T
 1 a0001c0002t0002g0163
a0001c0002t0002g0163
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.-145+65378T>A
c.-145+65378T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8751782
chr1:8751951 C
C
 CA
CA
 6 a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
others(3): Show 
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0004t0010g0142
a0001c0014t0002g0191
 6 HG01168.hp1
HG01169.hp1
HG01255.hp2
others(3): Show 
HG01168.hp1
HG01169.hp1
HG01255.hp2
HG01361.hp1
HG03579.hp2
HG04228.hp1
 intron_variant MODIFIER c.-145+65208dupT
c.-145+65208dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8751951
chr1:8751951 CA
CA
 C
C
 129 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(126): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0018t0001g0005
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0008c0017t0003g0101
a0010c0027t0003g0086
 129 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(126): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02132.hp1
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03471.hp1
HG03491.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-145+65208delT
c.-145+65208delT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8751951
chr1:8752155 C
C
 T
T
 86 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(83): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0036g0194
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0018t0001g0005
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
 86 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(83): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01496.hp2
HG01884.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03471.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-145+65005G>A
c.-145+65005G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8752155
chr1:8752276 A
A
 T
T
 3 a0001c0002t0005g0125
a0001c0004t0014g0126
a0001c0005t0026g0127
a0001c0002t0005g0125
a0001c0004t0014g0126
a0001c0005t0026g0127
 3 HG02965.hp2
HG03453.hp1
NA21309.hp1
HG02965.hp2
HG03453.hp1
NA21309.hp1
 intron_variant MODIFIER c.-145+64884T>A
c.-145+64884T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8752276
chr1:8752331 G
G
 C
C
 86 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(83): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0036g0194
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0018t0001g0005
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
 86 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(83): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01496.hp2
HG01884.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03471.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-145+64829C>G
c.-145+64829C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8752331
chr1:8752467 G
G
 A
A
 1 a0001c0004t0005g0079
a0001c0004t0005g0079
 1 HG02735.hp2
HG02735.hp2
 intron_variant MODIFIER c.-145+64693C>T
c.-145+64693C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8752467
chr1:8753184 C
C
 T
T
 162 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(159): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 162 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(159): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-145+63976G>A
c.-145+63976G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8753184
chr1:8753355 C
C
 A
A
 1 a0001c0002t0005g0134
a0001c0002t0005g0134
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.-145+63805G>T
c.-145+63805G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8753355
chr1:8753572 T
T
 C
C
 1 a0001c0004t0003g0109
a0001c0004t0003g0109
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.-145+63588A>G
c.-145+63588A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8753572
chr1:8753976 T
T
 A
A
 1 a0001c0002t0002g0174
a0001c0002t0002g0174
 1 NA18946.hp2
NA18946.hp2
 intron_variant MODIFIER c.-145+63184A>T
c.-145+63184A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8753976
chr1:8754336 T
T
 C
C
 1 a0001c0004t0014g0126
a0001c0004t0014g0126
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.-145+62824A>G
c.-145+62824A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8754336
chr1:8754906 T
T
 C
C
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-145+62254A>G
c.-145+62254A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8754906
chr1:8754942 A
A
 G
G
 1 a0001c0003t0004g0041
a0001c0003t0004g0041
 1 NA18939.hp1
NA18939.hp1
 intron_variant MODIFIER c.-145+62218T>C
c.-145+62218T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8754942
chr1:8754985 G
G
 C
C
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-145+62175C>G
c.-145+62175C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8754985
chr1:8755433 G
G
 A
A
 1 a0001c0001t0001g0048
a0001c0001t0001g0048
 1 NA19085.hp2
NA19085.hp2
 intron_variant MODIFIER c.-145+61727C>T
c.-145+61727C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8755433
chr1:8755708 C
C
 G
G
 1 a0001c0004t0025g0080
a0001c0004t0025g0080
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.-145+61452G>C
c.-145+61452G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8755708
chr1:8755876 G
G
 C
C
 42 a0001c0001t0001g0004
a0001c0001t0001g0038
a0001c0001t0001g0039
others(39): Show 
a0001c0001t0001g0004
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0036g0194
a0001c0002t0013g0053
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0018t0001g0005
 42 HG00140.hp2
HG00280.hp1
HG00597.hp2
others(39): Show 
HG00140.hp2
HG00280.hp1
HG00597.hp2
HG00609.hp2
HG01167.hp2
HG01169.hp2
HG01261.hp1
HG01496.hp2
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp2
HG02293.hp1
HG02486.hp2
HG02523.hp1
HG03491.hp2
HG03688.hp1
HG03831.hp2
HG04184.hp2
HG04199.hp2
NA18939.hp1
NA18944.hp1
NA18964.hp2
NA18967.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.-145+61284C>G
c.-145+61284C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8755876
chr1:8755976 T
T
 C
C
 12 a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
others(9): Show 
a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0004t0022g0121
a0009c0021t0003g0135
 12 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(9): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03225.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.-145+61184A>G
c.-145+61184A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8755976
chr1:8756095 G
G
 A
A
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-145+61065C>T
c.-145+61065C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8756095
chr1:8756114 G
G
 A
A
 39 a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
others(36): Show 
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0003g0141
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0078
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0031
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
 39 HG00140.hp1
HG00544.hp2
HG00639.hp2
others(36): Show 
HG00140.hp1
HG00544.hp2
HG00639.hp2
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01358.hp2
HG01361.hp2
HG01884.hp2
HG01981.hp1
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02602.hp2
HG02622.hp2
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02976.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03471.hp1
HG03540.hp2
HG03654.hp2
HG03831.hp1
HG04115.hp2
NA18906.hp1
NA18946.hp1
NA18973.hp1
NA19009.hp2
NA19043.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-145+61046C>T
c.-145+61046C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8756114
chr1:8756116 G
G
 A
A
 44 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(41): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0005c0013t0029g0111
a0008c0017t0003g0101
a0010c0027t0003g0086
 44 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(41): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00741.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02523.hp2
HG02683.hp2
HG02723.hp1
HG02735.hp2
HG03041.hp1
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04228.hp2
HG06807.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.-145+61044C>T
c.-145+61044C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8756116
chr1:8756224 C
C
 T
T
 1 a0001c0007t0001g0008
a0001c0007t0001g0008
 1 HG03831.hp1
HG03831.hp1
 intron_variant MODIFIER c.-145+60936G>A
c.-145+60936G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8756224
chr1:8756379 G
G
 A
A
 37 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(34): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0004t0003g0092
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0008c0017t0003g0101
a0010c0027t0003g0086
 37 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(34): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00741.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02523.hp2
HG02735.hp2
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.-145+60781C>T
c.-145+60781C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8756379
chr1:8756560 T
T
 C
C
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.-145+60600A>G
c.-145+60600A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8756560
chr1:8756596 T
T
 C
C
 3 a0001c0002t0005g0110
a0001c0004t0003g0109
a0005c0013t0029g0111
a0001c0002t0005g0110
a0001c0004t0003g0109
a0005c0013t0029g0111
 3 HG02723.hp1
HG03041.hp1
NA21309.hp2
HG02723.hp1
HG03041.hp1
NA21309.hp2
 intron_variant MODIFIER c.-145+60564A>G
c.-145+60564A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8756596
chr1:8756625 T
T
 C
C
 1 a0001c0001t0001g0037
a0001c0001t0001g0037
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.-145+60535A>G
c.-145+60535A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8756625
chr1:8756743 T
T
 C
C
 5 a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
others(2): Show 
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
 5 HG02109.hp1
HG02257.hp2
HG02818.hp1
others(2): Show 
HG02109.hp1
HG02257.hp2
HG02818.hp1
HG03209.hp1
HG03516.hp1
 intron_variant MODIFIER c.-145+60417A>G
c.-145+60417A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8756743
chr1:8756921 G
G
 C
C
 5 a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
others(2): Show 
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0063
a0001c0003t0004g0068
 5 HG00140.hp2
HG00280.hp1
HG01261.hp1
others(2): Show 
HG00140.hp2
HG00280.hp1
HG01261.hp1
HG02258.hp2
HG02486.hp2
 intron_variant MODIFIER c.-145+60239C>G
c.-145+60239C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8756921
chr1:8756982 T
T
 G
G
 8 a0001c0001t0003g0088
a0002c0006t0003g0089
a0002c0006t0003g0090
others(5): Show 
a0001c0001t0003g0088
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0010c0027t0003g0086
 8 HG01496.hp1
HG02132.hp1
HG02165.hp1
others(5): Show 
HG01496.hp1
HG02132.hp1
HG02165.hp1
NA18944.hp2
NA18985.hp1
NA19002.hp2
NA19005.hp2
NA19074.hp2
 intron_variant MODIFIER c.-145+60178A>C
c.-145+60178A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8756982
chr1:8756994 G
G
 C
C
 1 a0001c0001t0003g0115
a0001c0001t0003g0115
 1 HG00597.hp1
HG00597.hp1
 intron_variant MODIFIER c.-145+60166C>G
c.-145+60166C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8756994
chr1:8757075 A
A
 G
G
 4 a0001c0003t0008g0085
a0001c0004t0005g0079
a0001c0004t0005g0083
others(1): Show 
a0001c0003t0008g0085
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0025g0080
 4 HG01433.hp2
HG01934.hp1
HG02735.hp2
others(1): Show 
HG01433.hp2
HG01934.hp1
HG02735.hp2
HG04228.hp2
 intron_variant MODIFIER c.-145+60085T>C
c.-145+60085T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8757075
chr1:8757090 C
C
 CA
CA
 12 a0001c0001t0001g0004
a0001c0001t0001g0059
a0001c0001t0001g0064
others(9): Show 
a0001c0001t0001g0004
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0076
a0001c0001t0006g0181
a0001c0002t0002g0161
a0001c0003t0004g0078
a0001c0004t0001g0049
a0001c0004t0010g0107
a0001c0004t0010g0142
a0001c0019t0014g0119
a0003c0008t0001g0072
 12 HG00597.hp2
HG00609.hp2
HG01261.hp1
others(9): Show 
HG00597.hp2
HG00609.hp2
HG01261.hp1
HG02027.hp2
HG02647.hp1
HG03195.hp2
HG03453.hp2
HG03579.hp2
HG04115.hp1
NA19009.hp2
NA19074.hp1
NA19090.hp1
 intron_variant MODIFIER c.-145+60069dupT
c.-145+60069dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8757090
chr1:8757090 CA
CA
 C
C
 51 a0001c0001t0001g0033
a0001c0001t0003g0087
a0001c0001t0003g0088
others(48): Show 
a0001c0001t0001g0033
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0166
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0004t0003g0092
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0025g0080
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0007c0020t0039g0197
a0008c0017t0003g0101
a0010c0027t0003g0086
 51 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(48): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00741.hp2
HG01168.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02109.hp1
HG02132.hp1
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp2
HG02523.hp2
HG02683.hp2
HG02735.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03491.hp1
HG03516.hp1
HG03669.hp1
HG03688.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19070.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.-145+60069delT
c.-145+60069delT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8757090
chr1:8757506 A
A
 T
T
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-145+59654T>A
c.-145+59654T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8757506
chr1:8757622 T
T
 TAGTTG
TAGTTG
 47 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(44): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0005c0013t0029g0111
a0008c0017t0003g0101
a0010c0027t0003g0086
 47 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(44): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00741.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02523.hp2
HG02683.hp2
HG02723.hp1
HG02735.hp2
HG02886.hp2
HG03041.hp1
HG03195.hp2
HG03453.hp2
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04228.hp2
HG06807.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.-145+59537_-145+59
others(11): Show 
c.-145+59537_-145+59538insCAACT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8757622
chr1:8757804 C
C
 T
T
 86 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(83): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0036g0194
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0018t0001g0005
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
 86 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(83): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01496.hp2
HG01884.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03471.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-145+59356G>A
c.-145+59356G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8757804
chr1:8757879 C
C
 T
T
 47 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(44): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0005c0013t0029g0111
a0008c0017t0003g0101
a0010c0027t0003g0086
 47 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(44): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00741.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02523.hp2
HG02683.hp2
HG02723.hp1
HG02735.hp2
HG02886.hp2
HG03041.hp1
HG03195.hp2
HG03453.hp2
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04228.hp2
HG06807.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.-145+59281G>A
c.-145+59281G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8757879
chr1:8757911 T
T
 C
C
 1 a0001c0001t0001g0015
a0001c0001t0001g0015
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.-145+59249A>G
c.-145+59249A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8757911
chr1:8757919 C
C
 CACACACA
others(9): Show 
CACACACACACACACAT
 12 a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
others(9): Show 
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0003t0004g0068
a0001c0004t0010g0107
a0001c0004t0027g0106
a0002c0006t0024g0081
 12 HG00140.hp2
HG00280.hp1
HG01167.hp2
others(9): Show 
HG00140.hp2
HG00280.hp1
HG01167.hp2
HG01169.hp2
HG01261.hp1
HG01496.hp2
HG02258.hp2
HG02486.hp2
HG02886.hp2
HG03453.hp2
NA19005.hp2
NA20300.hp1
 intron_variant MODIFIER c.-145+59240_-145+59
others(22): Show 
c.-145+59240_-145+59241insATGTGTGTGTGTGTGT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8757919
chr1:8757919 C
C
 CACACACA
others(7): Show 
CACACACACACACAT
 120 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(117): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0008c0017t0003g0101
a0010c0027t0003g0086
 120 HG00140.hp1
HG00280.hp2
HG00544.hp1
others(117): Show 
HG00140.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp2
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02132.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03471.hp1
HG03491.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04228.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-145+59240_-145+59
others(20): Show 
c.-145+59240_-145+59241insATGTGTGTGTGTGT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8757919
chr1:8757919 C
C
 CACACACA
others(5): Show 
CACACACACACAT
 9 a0001c0001t0001g0055
a0001c0004t0040g0199
a0001c0005t0009g0200
others(6): Show 
a0001c0001t0001g0055
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 9 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(6): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG04199.hp2
HG06807.hp1
 intron_variant MODIFIER c.-145+59229_-145+59
others(18): Show 
c.-145+59229_-145+59240dupATGTGTGTGTGT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8757919
chr1:8758051 T
T
 C
C
 1 a0001c0002t0005g0125
a0001c0002t0005g0125
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.-145+59109A>G
c.-145+59109A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8758051
chr1:8758091 A
A
 AT
AT
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.-145+59068dupA
c.-145+59068dupA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8758091
chr1:8758103 T
T
 G
G
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.-145+59057A>C
c.-145+59057A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8758103
chr1:8758379 C
C
 G
G
 44 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0038
others(41): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0036g0194
a0001c0002t0013g0053
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0018t0001g0005
 44 HG00140.hp2
HG00280.hp1
HG00597.hp2
others(41): Show 
HG00140.hp2
HG00280.hp1
HG00597.hp2
HG00609.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01261.hp1
HG01496.hp2
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp2
HG02293.hp1
HG02486.hp2
HG02523.hp1
HG02683.hp1
HG03491.hp2
HG03688.hp1
HG03831.hp2
HG04184.hp2
HG04199.hp2
NA18939.hp1
NA18944.hp1
NA18964.hp2
NA18967.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.-145+58781G>C
c.-145+58781G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8758379
chr1:8758387 CT
CT
 C
C
 56 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(53): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0183
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0010g0120
a0001c0004t0025g0080
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0009t0041g0198
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0003c0008t0001g0071
a0005c0013t0029g0111
a0007c0020t0039g0197
a0008c0017t0003g0101
a0010c0027t0003g0086
 56 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(53): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00741.hp2
HG01167.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG01934.hp2
HG02004.hp1
HG02074.hp1
HG02109.hp1
HG02132.hp1
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp2
HG02523.hp2
HG02683.hp2
HG02723.hp1
HG02735.hp2
HG02818.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03195.hp2
HG03209.hp1
HG03491.hp1
HG03516.hp1
HG03669.hp1
HG03688.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.-145+58772delA
c.-145+58772delA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8758387
chr1:8758449 C
C
 A
A
 1 a0002c0006t0003g0089
a0002c0006t0003g0089
 1 HG02132.hp1
HG02132.hp1
 intron_variant MODIFIER c.-145+58711G>T
c.-145+58711G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8758449
chr1:8758541 G
G
 A
A
 86 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(83): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0036g0194
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0018t0001g0005
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
 86 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(83): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01496.hp2
HG01884.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03471.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-145+58619C>T
c.-145+58619C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8758541
chr1:8758553 A
A
 G
G
 141 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(138): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0010c0027t0003g0086
 141 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(138): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp2
HG03471.hp1
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-145+58607T>C
c.-145+58607T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8758553
chr1:8759036 G
G
 C
C
 2 a0001c0002t0005g0125
a0001c0005t0026g0127
a0001c0002t0005g0125
a0001c0005t0026g0127
 2 HG03453.hp1
NA21309.hp1
HG03453.hp1
NA21309.hp1
 intron_variant MODIFIER c.-145+58124C>G
c.-145+58124C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8759036
chr1:8759054 T
T
 C
C
 1 a0001c0003t0004g0011
a0001c0003t0004g0011
 1 NA18946.hp1
NA18946.hp1
 intron_variant MODIFIER c.-145+58106A>G
c.-145+58106A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8759054
chr1:8759783 T
T
 G
G
 3 a0001c0002t0005g0110
a0001c0004t0003g0109
a0005c0013t0029g0111
a0001c0002t0005g0110
a0001c0004t0003g0109
a0005c0013t0029g0111
 3 HG02723.hp1
HG03041.hp1
NA21309.hp2
HG02723.hp1
HG03041.hp1
NA21309.hp2
 intron_variant MODIFIER c.-145+57377A>C
c.-145+57377A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8759783
chr1:8759828 A
A
 ACT
ACT
 5 a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
others(2): Show 
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
 5 HG02109.hp1
HG02257.hp2
HG02818.hp1
others(2): Show 
HG02109.hp1
HG02257.hp2
HG02818.hp1
HG03209.hp1
HG03516.hp1
 intron_variant MODIFIER c.-145+57330_-145+57
others(8): Show 
c.-145+57330_-145+57331dupAG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8759828
chr1:8759835 C
C
 CTA
CTA
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.-145+57323_-145+57
others(8): Show 
c.-145+57323_-145+57324dupTA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8759835
chr1:8759838 T
T
 C
C
 3 a0001c0001t0001g0048
a0001c0001t0001g0070
a0001c0003t0004g0021
a0001c0001t0001g0048
a0001c0001t0001g0070
a0001c0003t0004g0021
 3 HG01192.hp1
NA19009.hp1
NA19085.hp2
HG01192.hp1
NA19009.hp1
NA19085.hp2
 intron_variant MODIFIER c.-145+57322A>G
c.-145+57322A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8759838
chr1:8759838 T
T
 TAC
TAC
 73 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(70): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0038
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0093
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0016g0054
a0001c0001t0036g0194
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0164
a0001c0002t0005g0114
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0014
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0018t0001g0005
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0031
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0007c0020t0039g0197
 73 HG00140.hp2
HG00280.hp1
HG00597.hp2
others(70): Show 
HG00140.hp2
HG00280.hp1
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01981.hp1
HG02004.hp1
HG02027.hp1
HG02027.hp2
HG02074.hp2
HG02080.hp1
HG02129.hp1
HG02129.hp2
HG02155.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02723.hp2
HG02896.hp1
HG02965.hp1
HG02976.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03225.hp2
HG03471.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp1
NA18939.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19090.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-145+57320_-145+57
others(8): Show 
c.-145+57320_-145+57321dupGT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8759838
chr1:8759838 T
T
 TACAC
TACAC
 8 a0001c0001t0001g0033
a0001c0001t0001g0046
a0001c0001t0001g0052
others(5): Show 
a0001c0001t0001g0033
a0001c0001t0001g0046
a0001c0001t0001g0052
a0001c0002t0002g0183
a0001c0003t0004g0011
a0001c0003t0004g0019
a0001c0004t0014g0126
a0006c0025t0007g0025
 8 HG01884.hp2
HG01934.hp2
HG02165.hp2
others(5): Show 
HG01884.hp2
HG01934.hp2
HG02165.hp2
HG02809.hp2
HG02965.hp2
NA18946.hp1
NA18973.hp1
NA18983.hp2
 intron_variant MODIFIER c.-145+57318_-145+57
others(10): Show 
c.-145+57318_-145+57321dupGTGT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8759838
chr1:8759838 T
T
 TACACAC
TACACAC
 5 a0001c0003t0004g0012
a0001c0003t0004g0078
a0001c0004t0003g0109
others(2): Show 
a0001c0003t0004g0012
a0001c0003t0004g0078
a0001c0004t0003g0109
a0001c0004t0010g0142
a0002c0006t0024g0081
 5 HG00544.hp2
HG03579.hp2
NA19005.hp2
others(2): Show 
HG00544.hp2
HG03579.hp2
NA19005.hp2
NA19009.hp2
NA21309.hp2
 intron_variant MODIFIER c.-145+57316_-145+57
others(12): Show 
c.-145+57316_-145+57321dupGTGTGT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8759838
chr1:8759838 T
T
 TACACACA
others(5): Show 
TACACACACACAC
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-145+57310_-145+57
others(18): Show 
c.-145+57310_-145+57321dupGTGTGTGTGTGT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8759838
chr1:8759838 TAC
TAC
 T
T
 10 a0001c0001t0001g0037
a0001c0001t0001g0062
a0001c0004t0040g0199
others(7): Show 
a0001c0001t0001g0037
a0001c0001t0001g0062
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0004g0016
a0001c0009t0004g0020
 10 HG01168.hp2
HG01255.hp1
HG01496.hp2
others(7): Show 
HG01168.hp2
HG01255.hp1
HG01496.hp2
HG02109.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
NA18906.hp1
 intron_variant MODIFIER c.-145+57320_-145+57
others(8): Show 
c.-145+57320_-145+57321delGT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8759838
chr1:8759838 TACAC
TACAC
 T
T
 5 a0001c0001t0001g0073
a0001c0001t0001g0074
a0003c0008t0001g0006
others(2): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0003c0008t0001g0006
a0003c0008t0001g0071
a0003c0008t0001g0072
 5 HG02647.hp1
HG02970.hp1
HG02976.hp1
others(2): Show 
HG02647.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03139.hp1
 intron_variant MODIFIER c.-145+57318_-145+57
others(10): Show 
c.-145+57318_-145+57321delGTGT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8759838
chr1:8759838 TACACAC
TACACAC
 T
T
 2 a0001c0002t0005g0110
a0005c0013t0029g0111
a0001c0002t0005g0110
a0005c0013t0029g0111
 2 HG02723.hp1
HG03041.hp1
HG02723.hp1
HG03041.hp1
 intron_variant MODIFIER c.-145+57316_-145+57
others(12): Show 
c.-145+57316_-145+57321delGTGTGT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8759838
chr1:8759852 C
C
 CACACACA
others(5): Show 
CACACACACACAT
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.-145+57307_-145+57
others(18): Show 
c.-145+57307_-145+57308insATGTGTGTGTGT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8759852
chr1:8760182 C
C
 T
T
 1 a0001c0001t0001g0062
a0001c0001t0001g0062
 1 HG01496.hp2
HG01496.hp2
 intron_variant MODIFIER c.-145+56978G>A
c.-145+56978G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8760182
chr1:8760191 A
A
 G
G
 1 a0001c0003t0004g0068
a0001c0003t0004g0068
 1 HG02258.hp2
HG02258.hp2
 intron_variant MODIFIER c.-145+56969T>C
c.-145+56969T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8760191
chr1:8760202 T
T
 C
C
 1 a0003c0008t0001g0006
a0003c0008t0001g0006
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.-145+56958A>G
c.-145+56958A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8760202
chr1:8760206 C
C
 T
T
 1 a0001c0002t0002g0149
a0001c0002t0002g0149
 1 HG02602.hp1
HG02602.hp1
 intron_variant MODIFIER c.-145+56954G>A
c.-145+56954G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8760206
chr1:8760211 G
G
 C
C
 1 a0001c0001t0001g0050
a0001c0001t0001g0050
 1 NA19005.hp1
NA19005.hp1
 intron_variant MODIFIER c.-145+56949C>G
c.-145+56949C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8760211
chr1:8760274 G
G
 A
A
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-145+56886C>T
c.-145+56886C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8760274
chr1:8760455 T
T
 C
C
 3 a0001c0002t0002g0152
a0001c0002t0002g0162
a0001c0002t0002g0179
a0001c0002t0002g0152
a0001c0002t0002g0162
a0001c0002t0002g0179
 3 HG02559.hp2
HG03516.hp2
HG03540.hp1
HG02559.hp2
HG03516.hp2
HG03540.hp1
 intron_variant MODIFIER c.-145+56705A>G
c.-145+56705A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8760455
chr1:8760470 G
G
 C
C
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-145+56690C>G
c.-145+56690C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8760470
chr1:8760614 T
T
 C
C
 9 a0001c0005t0019g0030
a0001c0010t0007g0026
a0001c0010t0007g0034
others(6): Show 
a0001c0005t0019g0030
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0005c0013t0021g0023
a0006c0025t0007g0025
 9 HG02280.hp1
HG02451.hp2
HG02647.hp2
others(6): Show 
HG02280.hp1
HG02451.hp2
HG02647.hp2
HG02723.hp2
HG02809.hp2
HG02965.hp1
HG03130.hp2
HG03471.hp1
HG03540.hp2
 intron_variant MODIFIER c.-145+56546A>G
c.-145+56546A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8760614
chr1:8760977 T
T
 C
C
 3 a0001c0002t0005g0110
a0001c0004t0003g0109
a0005c0013t0029g0111
a0001c0002t0005g0110
a0001c0004t0003g0109
a0005c0013t0029g0111
 3 HG02723.hp1
HG03041.hp1
NA21309.hp2
HG02723.hp1
HG03041.hp1
NA21309.hp2
 intron_variant MODIFIER c.-145+56183A>G
c.-145+56183A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8760977
chr1:8761011 A
A
 C
C
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-145+56149T>G
c.-145+56149T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8761011
chr1:8761081 C
C
 A
A
 1 a0005c0013t0021g0023
a0005c0013t0021g0023
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.-145+56079G>T
c.-145+56079G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8761081
chr1:8761647 G
G
 A
A
 1 a0001c0003t0004g0035
a0001c0003t0004g0035
 1 HG00639.hp2
HG00639.hp2
 intron_variant MODIFIER c.-145+55513C>T
c.-145+55513C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8761647
chr1:8761923 A
A
 C
C
 1 a0001c0003t0004g0068
a0001c0003t0004g0068
 1 HG02258.hp2
HG02258.hp2
 intron_variant MODIFIER c.-145+55237T>G
c.-145+55237T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8761923
chr1:8761983 T
T
 A
A
 1 a0001c0001t0006g0153
a0001c0001t0006g0153
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.-145+55177A>T
c.-145+55177A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8761983
chr1:8762001 T
T
 C
C
 1 a0001c0001t0003g0122
a0001c0001t0003g0122
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.-145+55159A>G
c.-145+55159A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8762001
chr1:8762131 C
C
 G
G
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.-145+55029G>C
c.-145+55029G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8762131
chr1:8762257 T
T
 C
C
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-145+54903A>G
c.-145+54903A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8762257
chr1:8762277 C
C
 T
T
 1 a0001c0003t0012g0022
a0001c0003t0012g0022
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.-145+54883G>A
c.-145+54883G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8762277
chr1:8762305 T
T
 C
C
 45 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(42): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0005c0013t0029g0111
a0008c0017t0003g0101
a0010c0027t0003g0086
 45 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(42): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00741.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02523.hp2
HG02683.hp2
HG02723.hp1
HG02735.hp2
HG03041.hp1
HG03195.hp2
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04228.hp2
HG06807.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.-145+54855A>G
c.-145+54855A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8762305
chr1:8762675 G
G
 C
C
 1 a0001c0004t0003g0109
a0001c0004t0003g0109
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.-145+54485C>G
c.-145+54485C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8762675
chr1:8762713 C
C
 A
A
 1 a0001c0001t0001g0069
a0001c0001t0001g0069
 1 NA19000.hp2
NA19000.hp2
 intron_variant MODIFIER c.-145+54447G>T
c.-145+54447G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8762713
chr1:8762995 G
G
 C
C
 3 a0001c0010t0007g0026
a0001c0010t0013g0024
a0006c0025t0007g0025
a0001c0010t0007g0026
a0001c0010t0013g0024
a0006c0025t0007g0025
 3 HG02647.hp2
HG02809.hp2
HG03540.hp2
HG02647.hp2
HG02809.hp2
HG03540.hp2
 intron_variant MODIFIER c.-145+54165C>G
c.-145+54165C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8762995
chr1:8763034 G
G
 A
A
 3 a0001c0003t0008g0105
a0001c0022t0008g0082
a0008c0017t0003g0101
a0001c0003t0008g0105
a0001c0022t0008g0082
a0008c0017t0003g0101
 3 HG00280.hp2
HG00741.hp2
NA20905.hp2
HG00280.hp2
HG00741.hp2
NA20905.hp2
 intron_variant MODIFIER c.-145+54126C>T
c.-145+54126C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8763034
chr1:8763310 C
C
 T
T
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.-145+53850G>A
c.-145+53850G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8763310
chr1:8763462 G
G
 A
A
 5 a0001c0001t0001g0073
a0001c0001t0001g0074
a0003c0008t0001g0006
others(2): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0003c0008t0001g0006
a0003c0008t0001g0071
a0003c0008t0001g0072
 5 HG02647.hp1
HG02970.hp1
HG02976.hp1
others(2): Show 
HG02647.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03139.hp1
 intron_variant MODIFIER c.-145+53698C>T
c.-145+53698C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8763462
chr1:8763665 G
G
 C
C
 1 a0001c0001t0001g0061
a0001c0001t0001g0061
 1 NA20300.hp1
NA20300.hp1
 intron_variant MODIFIER c.-145+53495C>G
c.-145+53495C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8763665
chr1:8763697 T
T
 C
C
 1 a0001c0002t0005g0114
a0001c0002t0005g0114
 1 HG02004.hp1
HG02004.hp1
 intron_variant MODIFIER c.-145+53463A>G
c.-145+53463A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8763697
chr1:8763782 T
T
 C
C
 2 a0004c0012t0008g0137
a0004c0012t0008g0138
a0004c0012t0008g0137
a0004c0012t0008g0138
 2 HG02976.hp2
HG03195.hp1
HG02976.hp2
HG03195.hp1
 intron_variant MODIFIER c.-145+53378A>G
c.-145+53378A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8763782
chr1:8763833 C
C
 T
T
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-145+53327G>A
c.-145+53327G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8763833
chr1:8763938 TA
TA
 T
T
 76 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(73): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0002g0174
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0005g0123
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0018t0001g0005
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
 76 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(73): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01496.hp2
HG01884.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03491.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18946.hp2
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-145+53221delT
c.-145+53221delT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8763938
chr1:8763939 A
A
 T
T
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-145+53221T>A
c.-145+53221T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8763939
chr1:8763956 G
G
 T
T
 1 a0001c0001t0001g0038
a0001c0001t0001g0038
 1 HG02523.hp1
HG02523.hp1
 intron_variant MODIFIER c.-145+53204C>A
c.-145+53204C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8763956
chr1:8764048 C
C
 T
T
 2 a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0041
a0001c0003t0004g0042
 2 NA18939.hp1
NA18993.hp1
NA18939.hp1
NA18993.hp1
 intron_variant MODIFIER c.-145+53112G>A
c.-145+53112G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8764048
chr1:8764121 TG
TG
 T
T
 5 a0001c0001t0001g0073
a0001c0001t0001g0074
a0003c0008t0001g0006
others(2): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0003c0008t0001g0006
a0003c0008t0001g0071
a0003c0008t0001g0072
 5 HG02647.hp1
HG02970.hp1
HG02976.hp1
others(2): Show 
HG02647.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03139.hp1
 intron_variant MODIFIER c.-145+53038delC
c.-145+53038delC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8764121
chr1:8764426 A
A
 G
G
 1 a0001c0002t0002g0158
a0001c0002t0002g0158
 1 HG03654.hp1
HG03654.hp1
 intron_variant MODIFIER c.-145+52734T>C
c.-145+52734T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8764426
chr1:8764452 T
T
 C
C
 1 a0001c0002t0002g0164
a0001c0002t0002g0164
 1 HG02129.hp1
HG02129.hp1
 intron_variant MODIFIER c.-145+52708A>G
c.-145+52708A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8764452
chr1:8764588 G
G
 C
C
 1 a0001c0002t0002g0177
a0001c0002t0002g0177
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.-145+52572C>G
c.-145+52572C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8764588
chr1:8764770 T
T
 A
A
 10 a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
others(7): Show 
a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0009c0021t0003g0135
 10 HG01175.hp2
HG01884.hp1
HG02109.hp2
others(7): Show 
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03225.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.-145+52390A>T
c.-145+52390A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8764770
chr1:8765164 ATT
ATT
 A
A
 2 a0001c0004t0010g0120
a0001c0004t0022g0121
a0001c0004t0010g0120
a0001c0004t0022g0121
 2 HG01167.hp1
HG02257.hp1
HG01167.hp1
HG02257.hp1
 intron_variant MODIFIER c.-145+51994_-145+51
others(8): Show 
c.-145+51994_-145+51995delAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8765164
chr1:8765167 T
T
 A
A
 2 a0001c0004t0010g0120
a0001c0004t0022g0121
a0001c0004t0010g0120
a0001c0004t0022g0121
 2 HG01167.hp1
HG02257.hp1
HG01167.hp1
HG02257.hp1
 intron_variant MODIFIER c.-145+51993A>T
c.-145+51993A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8765167
chr1:8765457 T
T
 C
C
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.-145+51703A>G
c.-145+51703A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8765457
chr1:8765462 T
T
 C
C
 1 a0001c0002t0002g0164
a0001c0002t0002g0164
 1 HG02129.hp1
HG02129.hp1
 intron_variant MODIFIER c.-145+51698A>G
c.-145+51698A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8765462
chr1:8765705 G
G
 A
A
 1 a0001c0002t0002g0169
a0001c0002t0002g0169
 1 HG02132.hp2
HG02132.hp2
 intron_variant MODIFIER c.-145+51455C>T
c.-145+51455C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8765705
chr1:8765729 G
G
 A
A
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.-145+51431C>T
c.-145+51431C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8765729
chr1:8765745 A
A
 T
T
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.-145+51415T>A
c.-145+51415T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8765745
chr1:8765783 C
C
 G
G
 1 a0001c0003t0015g0147
a0001c0003t0015g0147
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.-145+51377G>C
c.-145+51377G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8765783
chr1:8765970 G
G
 A
A
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-145+51190C>T
c.-145+51190C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8765970
chr1:8766155 G
G
 A
A
 3 a0001c0002t0002g0165
a0001c0002t0002g0176
a0001c0023t0002g0175
a0001c0002t0002g0165
a0001c0002t0002g0176
a0001c0023t0002g0175
 3 NA18939.hp2
NA18967.hp2
NA19085.hp1
NA18939.hp2
NA18967.hp2
NA19085.hp1
 intron_variant MODIFIER c.-145+51005C>T
c.-145+51005C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8766155
chr1:8766261 C
C
 A
A
 1 a0005c0013t0021g0023
a0005c0013t0021g0023
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.-145+50899G>T
c.-145+50899G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8766261
chr1:8766276 C
C
 T
T
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.-145+50884G>A
c.-145+50884G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8766276
chr1:8766314 C
C
 A
A
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.-145+50846G>T
c.-145+50846G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8766314
chr1:8766330 G
G
 A
A
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.-145+50830C>T
c.-145+50830C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8766330
chr1:8766530 C
C
 G
G
 162 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(159): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 162 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(159): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-145+50630G>C
c.-145+50630G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8766530
chr1:8766546 C
C
 CA
CA
 22 a0001c0001t0001g0055
a0001c0001t0001g0064
a0001c0001t0003g0093
others(19): Show 
a0001c0001t0001g0055
a0001c0001t0001g0064
a0001c0001t0003g0093
a0001c0002t0002g0157
a0001c0002t0002g0168
a0001c0002t0002g0192
a0001c0002t0005g0116
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0032g0155
a0001c0004t0003g0092
a0001c0004t0010g0142
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0034g0156
a0001c0007t0004g0047
a0001c0009t0041g0198
a0007c0020t0039g0197
 22 HG00597.hp2
HG00639.hp1
HG00741.hp1
others(19): Show 
HG00597.hp2
HG00639.hp1
HG00741.hp1
HG01175.hp1
HG01433.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02559.hp1
HG02622.hp1
HG02818.hp1
HG02970.hp2
HG03130.hp1
HG03209.hp1
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG04199.hp2
HG06807.hp1
NA18964.hp1
NA19070.hp2
NA20905.hp1
 intron_variant MODIFIER c.-145+50613dupT
c.-145+50613dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8766546
chr1:8766590 G
G
 C
C
 1 a0001c0002t0002g0173
a0001c0002t0002g0173
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.-145+50570C>G
c.-145+50570C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8766590
chr1:8766699 C
C
 T
T
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-145+50461G>A
c.-145+50461G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8766699
chr1:8766779 T
T
 G
G
 1 a0001c0001t0001g0074
a0001c0001t0001g0074
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.-145+50381A>C
c.-145+50381A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8766779
chr1:8767187 G
G
 T
T
 1 a0001c0001t0023g0113
a0001c0001t0023g0113
 1 HG00544.hp1
HG00544.hp1
 intron_variant MODIFIER c.-145+49973C>A
c.-145+49973C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8767187
chr1:8767381 T
T
 C
C
 1 a0001c0005t0009g0204
a0001c0005t0009g0204
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.-145+49779A>G
c.-145+49779A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8767381
chr1:8767579 T
T
 C
C
 2 a0001c0001t0003g0093
a0001c0004t0003g0092
a0001c0001t0003g0093
a0001c0004t0003g0092
 2 HG01433.hp1
NA18964.hp1
HG01433.hp1
NA18964.hp1
 intron_variant MODIFIER c.-145+49581A>G
c.-145+49581A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8767579
chr1:8767604 C
C
 CA
CA
 39 a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0067
others(36): Show 
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0067
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0003g0124
a0001c0002t0005g0110
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0019
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0017g0032
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0007t0001g0008
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0015t0001g0009
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0007c0020t0039g0197
 39 HG00544.hp2
HG00639.hp2
HG01168.hp2
others(36): Show 
HG00544.hp2
HG00639.hp2
HG01168.hp2
HG01255.hp1
HG01358.hp2
HG01361.hp2
HG01884.hp2
HG01981.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02622.hp2
HG02647.hp1
HG02698.hp1
HG02723.hp1
HG02818.hp1
HG02896.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03491.hp2
HG03516.hp1
HG03654.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG06807.hp1
NA18946.hp1
NA18973.hp1
NA19043.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-145+49555dupT
c.-145+49555dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8767604
chr1:8767676 C
C
 A
A
 1 a0001c0010t0007g0034
a0001c0010t0007g0034
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.-145+49484G>T
c.-145+49484G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8767676
chr1:8767682 TA
TA
 T
T
 86 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(83): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0036g0194
a0001c0002t0002g0180
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0018t0001g0005
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
 86 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(83): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01496.hp2
HG01884.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03471.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-145+49477delT
c.-145+49477delT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8767682
chr1:8767803 A
A
 C
C
 1 a0001c0004t0006g0146
a0001c0004t0006g0146
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.-145+49357T>G
c.-145+49357T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8767803
chr1:8767857 T
T
 C
C
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.-145+49303A>G
c.-145+49303A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8767857
chr1:8768074 A
A
 T
T
 1 a0001c0004t0003g0109
a0001c0004t0003g0109
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.-145+49086T>A
c.-145+49086T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8768074
chr1:8768191 C
C
 T
T
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.-145+48969G>A
c.-145+48969G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8768191
chr1:8768277 A
A
 G
G
 1 a0001c0002t0002g0163
a0001c0002t0002g0163
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.-145+48883T>C
c.-145+48883T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8768277
chr1:8768589 T
T
 C
C
 1 a0001c0016t0020g0001
a0001c0016t0020g0001
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.-145+48571A>G
c.-145+48571A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8768589
chr1:8768669 A
A
 G
G
 3 a0001c0010t0007g0026
a0001c0010t0013g0024
a0006c0025t0007g0025
a0001c0010t0007g0026
a0001c0010t0013g0024
a0006c0025t0007g0025
 3 HG02647.hp2
HG02809.hp2
HG03540.hp2
HG02647.hp2
HG02809.hp2
HG03540.hp2
 intron_variant MODIFIER c.-145+48491T>C
c.-145+48491T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8768669
chr1:8768797 G
G
 C
C
 2 a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0084
a0001c0007t0003g0098
 2 NA18983.hp1
NA19000.hp1
NA18983.hp1
NA19000.hp1
 intron_variant MODIFIER c.-145+48363C>G
c.-145+48363C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8768797
chr1:8768951 C
C
 T
T
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-145+48209G>A
c.-145+48209G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8768951
chr1:8768952 G
G
 A
A
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.-145+48208C>T
c.-145+48208C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8768952
chr1:8769149 T
T
 C
C
 1 a0001c0002t0005g0125
a0001c0002t0005g0125
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.-145+48011A>G
c.-145+48011A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8769149
chr1:8769272 A
A
 G
G
 3 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0003t0004g0078
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0003t0004g0078
 3 NA19007.hp1
NA19009.hp2
NA19090.hp1
NA19007.hp1
NA19009.hp2
NA19090.hp1
 intron_variant MODIFIER c.-145+47888T>C
c.-145+47888T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8769272
chr1:8769440 A
A
 G
G
 41 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(38): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0004t0003g0092
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0008c0017t0003g0101
a0010c0027t0003g0086
 41 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(38): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00741.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02523.hp2
HG02683.hp2
HG02735.hp2
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04228.hp2
HG06807.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.-145+47720T>C
c.-145+47720T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8769440
chr1:8769463 T
T
 G
G
 1 a0001c0022t0008g0082
a0001c0022t0008g0082
 1 HG00280.hp2
HG00280.hp2
 intron_variant MODIFIER c.-145+47697A>C
c.-145+47697A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8769463
chr1:8769820 G
G
 A
A
 1 a0001c0002t0002g0167
a0001c0002t0002g0167
 1 HG02735.hp1
HG02735.hp1
 intron_variant MODIFIER c.-145+47340C>T
c.-145+47340C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8769820
chr1:8770274 G
G
 A
A
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-145+46886C>T
c.-145+46886C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8770274
chr1:8770307 A
A
 T
T
 40 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(37): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0112
a0001c0004t0003g0092
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0008c0017t0003g0101
a0010c0027t0003g0086
 40 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(37): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00741.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02523.hp2
HG02683.hp2
HG02735.hp2
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.-145+46853T>A
c.-145+46853T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8770307
chr1:8770315 A
A
 T
T
 1 a0001c0002t0002g0173
a0001c0002t0002g0173
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.-145+46845T>A
c.-145+46845T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8770315
chr1:8770575 A
A
 G
G
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.-145+46585T>C
c.-145+46585T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8770575
chr1:8770581 C
C
 T
T
 41 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(38): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0004t0003g0092
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0008c0017t0003g0101
a0010c0027t0003g0086
 41 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(38): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00741.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02523.hp2
HG02683.hp2
HG02735.hp2
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04228.hp2
HG06807.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.-145+46579G>A
c.-145+46579G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8770581
chr1:8770583 T
T
 C
C
 44 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(41): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0005c0013t0029g0111
a0008c0017t0003g0101
a0010c0027t0003g0086
 44 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(41): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00741.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02523.hp2
HG02683.hp2
HG02723.hp1
HG02735.hp2
HG03041.hp1
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04228.hp2
HG06807.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.-145+46577A>G
c.-145+46577A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8770583
chr1:8770639 A
A
 G
G
 3 a0001c0002t0002g0151
a0001c0002t0002g0178
a0001c0002t0002g0183
a0001c0002t0002g0151
a0001c0002t0002g0178
a0001c0002t0002g0183
 3 HG01261.hp2
HG01934.hp2
HG02293.hp2
HG01261.hp2
HG01934.hp2
HG02293.hp2
 intron_variant MODIFIER c.-145+46521T>C
c.-145+46521T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8770639
chr1:8770744 T
T
 C
C
 1 a0001c0001t0001g0066
a0001c0001t0001g0066
 1 HG02027.hp1
HG02027.hp1
 intron_variant MODIFIER c.-145+46416A>G
c.-145+46416A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8770744
chr1:8771132 G
G
 C
C
 5 a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
others(2): Show 
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
 5 HG02109.hp1
HG02257.hp2
HG02818.hp1
others(2): Show 
HG02109.hp1
HG02257.hp2
HG02818.hp1
HG03209.hp1
HG03516.hp1
 intron_variant MODIFIER c.-145+46028C>G
c.-145+46028C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8771132
chr1:8771135 A
A
 G
G
 2 a0001c0001t0006g0181
a0001c0004t0003g0109
a0001c0001t0006g0181
a0001c0004t0003g0109
 2 HG04115.hp1
NA21309.hp2
HG04115.hp1
NA21309.hp2
 intron_variant MODIFIER c.-145+46025T>C
c.-145+46025T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8771135
chr1:8771165 C
C
 G
G
 1 a0001c0001t0001g0076
a0001c0001t0001g0076
 1 NA19090.hp1
NA19090.hp1
 intron_variant MODIFIER c.-145+45995G>C
c.-145+45995G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8771165
chr1:8771199 C
C
 T
T
 1 a0001c0001t0001g0033
a0001c0001t0001g0033
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.-145+45961G>A
c.-145+45961G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8771199
chr1:8771224 T
T
 C
C
 44 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(41): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0005c0013t0029g0111
a0008c0017t0003g0101
a0010c0027t0003g0086
 44 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(41): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00741.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02523.hp2
HG02683.hp2
HG02723.hp1
HG02735.hp2
HG03041.hp1
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04228.hp2
HG06807.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.-145+45936A>G
c.-145+45936A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8771224
chr1:8771469 A
A
 C
C
 5 a0001c0001t0001g0073
a0001c0001t0001g0074
a0003c0008t0001g0006
others(2): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0003c0008t0001g0006
a0003c0008t0001g0071
a0003c0008t0001g0072
 5 HG02647.hp1
HG02970.hp1
HG02976.hp1
others(2): Show 
HG02647.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03139.hp1
 intron_variant MODIFIER c.-145+45691T>G
c.-145+45691T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8771469
chr1:8771522 CA
CA
 C
C
 115 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(112): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0036g0194
a0001c0002t0002g0157
a0001c0002t0002g0189
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0136
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0005g0123
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
a0007c0020t0039g0197
a0009c0021t0003g0135
 115 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(112): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-145+45637delT
c.-145+45637delT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8771522
chr1:8771534 A
A
 C
C
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.-145+45626T>G
c.-145+45626T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8771534
chr1:8771633 G
G
 A
A
 45 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(42): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0005c0013t0029g0111
a0008c0017t0003g0101
a0010c0027t0003g0086
 45 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(42): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00741.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02523.hp2
HG02683.hp2
HG02723.hp1
HG02735.hp2
HG03041.hp1
HG03195.hp2
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04228.hp2
HG06807.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.-145+45527C>T
c.-145+45527C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8771633
chr1:8771737 C
C
 T
T
 1 a0001c0002t0018g0002
a0001c0002t0018g0002
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.-145+45423G>A
c.-145+45423G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8771737
chr1:8771767 A
A
 G
G
 5 a0001c0001t0001g0073
a0001c0001t0001g0074
a0003c0008t0001g0006
others(2): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0003c0008t0001g0006
a0003c0008t0001g0071
a0003c0008t0001g0072
 5 HG02647.hp1
HG02970.hp1
HG02976.hp1
others(2): Show 
HG02647.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03139.hp1
 intron_variant MODIFIER c.-145+45393T>C
c.-145+45393T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8771767
chr1:8771794 C
C
 G
G
 3 a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
 3 HG02145.hp1
HG02970.hp2
HG06807.hp1
HG02145.hp1
HG02970.hp2
HG06807.hp1
 intron_variant MODIFIER c.-145+45366G>C
c.-145+45366G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8771794
chr1:8771847 T
T
 C
C
 1 a0001c0010t0007g0026
a0001c0010t0007g0026
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.-145+45313A>G
c.-145+45313A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8771847
chr1:8771866 C
C
 T
T
 4 a0001c0001t0001g0073
a0003c0008t0001g0006
a0003c0008t0001g0071
others(1): Show 
a0001c0001t0001g0073
a0003c0008t0001g0006
a0003c0008t0001g0071
a0003c0008t0001g0072
 4 HG02647.hp1
HG02970.hp1
HG03041.hp2
others(1): Show 
HG02647.hp1
HG02970.hp1
HG03041.hp2
HG03139.hp1
 intron_variant MODIFIER c.-145+45294G>A
c.-145+45294G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8771866
chr1:8771867 G
G
 A
A
 5 a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
others(2): Show 
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
 5 HG02109.hp1
HG02257.hp2
HG02818.hp1
others(2): Show 
HG02109.hp1
HG02257.hp2
HG02818.hp1
HG03209.hp1
HG03516.hp1
 intron_variant MODIFIER c.-145+45293C>T
c.-145+45293C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8771867
chr1:8771909 C
C
 CA
CA
 10 a0001c0001t0001g0069
a0001c0004t0006g0146
a0001c0004t0040g0199
others(7): Show 
a0001c0001t0001g0069
a0001c0004t0006g0146
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 10 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(7): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
NA19000.hp2
NA19043.hp1
 intron_variant MODIFIER c.-145+45250dupT
c.-145+45250dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8771909
chr1:8771909 CAAAAAAA
others(3): Show 
CAAAAAAAAAA
 C
C
 1 a0001c0005t0026g0127
a0001c0005t0026g0127
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.-145+45241_-145+45
others(16): Show 
c.-145+45241_-145+45250delTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8771909
chr1:8771926 A
A
 G
G
 1 a0001c0002t0013g0053
a0001c0002t0013g0053
 1 NA20905.hp1
NA20905.hp1
 intron_variant MODIFIER c.-145+45234T>C
c.-145+45234T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8771926
chr1:8772230 A
A
 AT
AT
 5 a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
others(2): Show 
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0023g0113
a0001c0001t0031g0144
 5 HG00544.hp1
HG00597.hp1
HG02523.hp2
others(2): Show 
HG00544.hp1
HG00597.hp1
HG02523.hp2
NA18973.hp2
NA18993.hp2
 intron_variant MODIFIER c.-145+44929dupA
c.-145+44929dupA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8772230
chr1:8772315 T
T
 C
C
 144 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(141): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0010c0027t0003g0086
 144 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(141): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp2
HG03471.hp1
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-145+44845A>G
c.-145+44845A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8772315
chr1:8772411 T
T
 C
C
 1 a0001c0004t0027g0106
a0001c0004t0027g0106
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.-145+44749A>G
c.-145+44749A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8772411
chr1:8772440 T
T
 C
C
 136 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(133): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0005t0019g0030
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0008c0017t0003g0101
a0010c0027t0003g0086
 136 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(133): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02132.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp2
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03453.hp2
HG03471.hp1
HG03491.hp1
HG03491.hp2
HG03540.hp2
HG03579.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-145+44720A>G
c.-145+44720A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8772440
chr1:8772529 C
C
 T
T
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-145+44631G>A
c.-145+44631G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8772529
chr1:8772885 T
T
 C
C
 86 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(83): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0036g0194
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0018t0001g0005
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
 86 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(83): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01496.hp2
HG01884.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03471.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-145+44275A>G
c.-145+44275A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8772885
chr1:8773153 TAAAAG
TAAAAG
 T
T
 3 a0001c0002t0005g0110
a0001c0004t0003g0109
a0005c0013t0029g0111
a0001c0002t0005g0110
a0001c0004t0003g0109
a0005c0013t0029g0111
 3 HG02723.hp1
HG03041.hp1
NA21309.hp2
HG02723.hp1
HG03041.hp1
NA21309.hp2
 intron_variant MODIFIER c.-145+44002_-145+44
others(11): Show 
c.-145+44002_-145+44006delCTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8773153
chr1:8773273 CTAAA
CTAAA
 C
C
 2 a0001c0002t0002g0149
a0001c0002t0035g0160
a0001c0002t0002g0149
a0001c0002t0035g0160
 2 HG02602.hp1
HG03669.hp2
HG02602.hp1
HG03669.hp2
 intron_variant MODIFIER c.-145+43883_-145+43
others(10): Show 
c.-145+43883_-145+43886delTTTA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8773273
chr1:8773278 T
T
 C
C
 1 a0001c0001t0003g0087
a0001c0001t0003g0087
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.-145+43882A>G
c.-145+43882A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8773278
chr1:8773724 T
T
 G
G
 1 a0001c0004t0010g0142
a0001c0004t0010g0142
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.-145+43436A>C
c.-145+43436A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8773724
chr1:8773802 C
C
 T
T
 1 a0001c0003t0011g0108
a0001c0003t0011g0108
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.-145+43358G>A
c.-145+43358G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8773802
chr1:8774070 C
C
 T
T
 2 a0001c0002t0002g0166
a0001c0002t0002g0174
a0001c0002t0002g0166
a0001c0002t0002g0174
 2 NA18946.hp2
NA19070.hp1
NA18946.hp2
NA19070.hp1
 intron_variant MODIFIER c.-145+43090G>A
c.-145+43090G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8774070
chr1:8774079 T
T
 C
C
 1 a0002c0006t0003g0089
a0002c0006t0003g0089
 1 HG02132.hp1
HG02132.hp1
 intron_variant MODIFIER c.-145+43081A>G
c.-145+43081A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8774079
chr1:8774108 C
C
 G
G
 1 a0001c0001t0001g0065
a0001c0001t0001g0065
 1 HG02080.hp1
HG02080.hp1
 intron_variant MODIFIER c.-145+43052G>C
c.-145+43052G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8774108
chr1:8774109 G
G
 A
A
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-145+43051C>T
c.-145+43051C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8774109
chr1:8774227 G
G
 A
A
 1 a0001c0001t0001g0015
a0001c0001t0001g0015
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.-145+42933C>T
c.-145+42933C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8774227
chr1:8774347 A
A
 AT
AT
 39 a0001c0001t0001g0037
a0001c0001t0001g0055
a0001c0001t0001g0056
others(36): Show 
a0001c0001t0001g0037
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0006g0181
a0001c0002t0002g0152
a0001c0002t0002g0162
a0001c0002t0002g0165
a0001c0002t0002g0176
a0001c0002t0002g0179
a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0005g0110
a0001c0002t0033g0186
a0001c0003t0004g0068
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0003g0109
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0204
a0001c0007t0001g0008
a0001c0015t0001g0009
a0001c0019t0014g0119
a0005c0013t0029g0111
a0007c0020t0039g0197
 39 HG00140.hp2
HG00280.hp1
HG01167.hp2
others(36): Show 
HG00140.hp2
HG00280.hp1
HG01167.hp2
HG01169.hp2
HG01175.hp1
HG01261.hp1
HG01358.hp1
HG01496.hp2
HG02027.hp1
HG02109.hp1
HG02257.hp2
HG02258.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02723.hp1
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02970.hp2
HG03041.hp1
HG03195.hp2
HG03453.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp1
NA18906.hp1
NA18967.hp2
NA19000.hp2
NA19085.hp1
NA20300.hp1
NA21309.hp2
 intron_variant MODIFIER c.-145+42812dupA
c.-145+42812dupA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8774347
chr1:8774347 A
A
 ATTT
ATTT
 33 a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
others(30): Show 
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0104
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0004t0003g0092
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0008c0017t0003g0101
a0010c0027t0003g0086
 33 HG00280.hp2
HG00544.hp1
HG00609.hp1
others(30): Show 
HG00280.hp2
HG00544.hp1
HG00609.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02523.hp2
HG02683.hp2
HG02735.hp2
HG03688.hp2
HG04228.hp2
HG06807.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.-145+42810_-145+42
others(9): Show 
c.-145+42810_-145+42812dupAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8774347
chr1:8774347 A
A
 ATTTT
ATTTT
 7 a0001c0001t0003g0087
a0001c0001t0003g0103
a0001c0001t0003g0115
others(4): Show 
a0001c0001t0003g0087
a0001c0001t0003g0103
a0001c0001t0003g0115
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0007t0003g0098
a0002c0006t0003g0091
 7 HG00597.hp1
HG00639.hp1
HG03491.hp1
others(4): Show 
HG00597.hp1
HG00639.hp1
HG03491.hp1
HG03669.hp1
NA19000.hp1
NA19002.hp2
NA19090.hp2
 intron_variant MODIFIER c.-145+42809_-145+42
others(10): Show 
c.-145+42809_-145+42812dupAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8774347
chr1:8774347 AT
AT
 A
A
 5 a0001c0001t0001g0073
a0001c0001t0001g0074
a0003c0008t0001g0006
others(2): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0003c0008t0001g0006
a0003c0008t0001g0071
a0003c0008t0001g0072
 5 HG02647.hp1
HG02970.hp1
HG02976.hp1
others(2): Show 
HG02647.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03139.hp1
 intron_variant MODIFIER c.-145+42812delA
c.-145+42812delA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8774347
chr1:8774347 ATTTTTTT
ATTTTTTT
 A
A
 12 a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
others(9): Show 
a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0004t0022g0121
a0009c0021t0003g0135
 12 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(9): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03225.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.-145+42806_-145+42
others(13): Show 
c.-145+42806_-145+42812delAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8774347
chr1:8774384 G
G
 A
A
 3 a0001c0002t0005g0110
a0001c0004t0003g0109
a0005c0013t0029g0111
a0001c0002t0005g0110
a0001c0004t0003g0109
a0005c0013t0029g0111
 3 HG02723.hp1
HG03041.hp1
NA21309.hp2
HG02723.hp1
HG03041.hp1
NA21309.hp2
 intron_variant MODIFIER c.-145+42776C>T
c.-145+42776C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8774384
chr1:8774444 C
C
 T
T
 1 a0001c0002t0005g0116
a0001c0002t0005g0116
 1 HG00639.hp1
HG00639.hp1
 intron_variant MODIFIER c.-145+42716G>A
c.-145+42716G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8774444
chr1:8774596 G
G
 C
C
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-145+42564C>G
c.-145+42564C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8774596
chr1:8774647 C
C
 T
T
 41 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(38): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0004t0003g0092
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0008c0017t0003g0101
a0010c0027t0003g0086
 41 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(38): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00741.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02523.hp2
HG02683.hp2
HG02735.hp2
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04228.hp2
HG06807.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.-145+42513G>A
c.-145+42513G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8774647
chr1:8774649 C
C
 T
T
 1 a0005c0013t0029g0111
a0005c0013t0029g0111
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.-145+42511G>A
c.-145+42511G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8774649
chr1:8774724 GAATT
GAATT
 G
G
 86 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(83): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0036g0194
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0018t0001g0005
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
 86 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(83): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01496.hp2
HG01884.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03471.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-145+42432_-145+42
others(10): Show 
c.-145+42432_-145+42435delAATT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8774724
chr1:8774800 C
C
 A
A
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-145+42360G>T
c.-145+42360G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8774800
chr1:8774840 C
C
 T
T
 1 a0001c0002t0002g0148
a0001c0002t0002g0148
 1 HG04184.hp1
HG04184.hp1
 intron_variant MODIFIER c.-145+42320G>A
c.-145+42320G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8774840
chr1:8774905 G
G
 GA
GA
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.-145+42254dupT
c.-145+42254dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8774905
chr1:8774920 A
A
 G
G
 144 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(141): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0010c0027t0003g0086
 144 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(141): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp2
HG03471.hp1
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-145+42240T>C
c.-145+42240T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8774920
chr1:8774947 CTTTCT
CTTTCT
 C
C
 48 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0038
others(45): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0036g0194
a0001c0002t0013g0053
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0018t0001g0005
a0003c0008t0001g0006
a0003c0008t0001g0071
a0003c0008t0001g0072
 48 HG00140.hp2
HG00280.hp1
HG00597.hp2
others(45): Show 
HG00140.hp2
HG00280.hp1
HG00597.hp2
HG00609.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01261.hp1
HG01496.hp2
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp2
HG02293.hp1
HG02486.hp2
HG02523.hp1
HG02647.hp1
HG02683.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03139.hp1
HG03491.hp2
HG03688.hp1
HG03831.hp2
HG04184.hp2
HG04199.hp2
NA18939.hp1
NA18944.hp1
NA18964.hp2
NA18967.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19002.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.-145+42208_-145+42
others(11): Show 
c.-145+42208_-145+42212delAGAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8774947
chr1:8774947 CTTTCTT
CTTTCTT
 C
C
 37 a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
others(34): Show 
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0050
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0031
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
 37 HG00140.hp1
HG00544.hp2
HG00639.hp2
others(34): Show 
HG00140.hp1
HG00544.hp2
HG00639.hp2
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG01358.hp2
HG01361.hp2
HG01884.hp2
HG01981.hp1
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02602.hp2
HG02622.hp2
HG02647.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02976.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03471.hp1
HG03540.hp2
HG03654.hp2
HG03831.hp1
HG04115.hp2
NA18906.hp1
NA18946.hp1
NA18973.hp1
NA19005.hp1
NA19043.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-145+42207_-145+42
others(12): Show 
c.-145+42207_-145+42212delAAGAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8774947
chr1:8774951 CT
CT
 C
C
 30 a0001c0001t0006g0153
a0001c0002t0002g0149
a0001c0002t0002g0151
others(27): Show 
a0001c0001t0006g0153
a0001c0002t0002g0149
a0001c0002t0002g0151
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0169
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0189
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0035g0160
a0001c0005t0026g0127
a0001c0016t0020g0001
a0001c0023t0002g0175
 30 HG01168.hp1
HG01261.hp2
HG01884.hp1
others(27): Show 
HG01168.hp1
HG01261.hp2
HG01884.hp1
HG01934.hp2
HG02027.hp2
HG02080.hp2
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02293.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02735.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp2
HG03516.hp2
HG03669.hp2
HG04199.hp1
NA18906.hp2
NA18939.hp2
NA18946.hp2
NA19070.hp1
NA19085.hp1
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.-145+42208delA
c.-145+42208delA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8774951
chr1:8774951 CTTT
CTTT
 C
C
 13 a0001c0001t0003g0102
a0001c0001t0023g0113
a0001c0001t0031g0144
others(10): Show 
a0001c0001t0003g0102
a0001c0001t0023g0113
a0001c0001t0031g0144
a0001c0003t0008g0085
a0001c0004t0010g0107
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0002c0006t0003g0094
a0007c0020t0039g0197
 13 HG00544.hp1
HG01934.hp1
HG02109.hp1
others(10): Show 
HG00544.hp1
HG01934.hp1
HG02109.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03453.hp2
HG03516.hp1
HG03688.hp2
HG06807.hp1
NA18993.hp2
NA19074.hp2
 intron_variant MODIFIER c.-145+42206_-145+42
others(9): Show 
c.-145+42206_-145+42208delAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8774951
chr1:8774951 CTTTT
CTTTT
 C
C
 37 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(34): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0030g0143
a0001c0001t0037g0196
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0091
a0002c0006t0003g0097
a0002c0006t0024g0081
a0005c0013t0029g0111
a0008c0017t0003g0101
a0010c0027t0003g0086
 37 HG00280.hp2
HG00609.hp1
HG00639.hp1
others(34): Show 
HG00280.hp2
HG00609.hp1
HG00639.hp1
HG00741.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01517.hp2
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02523.hp2
HG02683.hp2
HG02723.hp1
HG02735.hp2
HG02886.hp2
HG03041.hp1
HG03491.hp1
HG03669.hp1
HG04228.hp2
HG06807.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.-145+42205_-145+42
others(10): Show 
c.-145+42205_-145+42208delAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8774951
chr1:8774951 CTTTTTTT
others(6): Show 
CTTTTTTTTTTTTT
 C
C
 2 a0001c0004t0014g0126
a0001c0019t0014g0119
a0001c0004t0014g0126
a0001c0019t0014g0119
 2 HG02965.hp2
HG03195.hp2
HG02965.hp2
HG03195.hp2
 intron_variant MODIFIER c.-145+42196_-145+42
others(19): Show 
c.-145+42196_-145+42208delAAAAAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8774951
chr1:8774951 CTTTTTTT
others(9): Show 
CTTTTTTTTTTTTTTTT
 C
C
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.-145+42193_-145+42
others(22): Show 
c.-145+42193_-145+42208delAAAAAAAAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8774951
chr1:8774951 CTTTTTTT
others(11): Show 
CTTTTTTTTTTTTTTTTTT
 C
C
 1 a0001c0001t0006g0181
a0001c0001t0006g0181
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.-145+42191_-145+42
others(24): Show 
c.-145+42191_-145+42208delAAAAAAAAAAAAAAAAAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8774951
chr1:8774964 T
T
 C
C
 1 a0001c0001t0001g0069
a0001c0001t0001g0069
 1 NA19000.hp2
NA19000.hp2
 intron_variant MODIFIER c.-145+42196A>G
c.-145+42196A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8774964
chr1:8774965 T
T
 C
C
 48 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0038
others(45): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0036g0194
a0001c0002t0013g0053
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0018t0001g0005
a0003c0008t0001g0006
a0003c0008t0001g0071
a0003c0008t0001g0072
 48 HG00140.hp2
HG00280.hp1
HG00597.hp2
others(45): Show 
HG00140.hp2
HG00280.hp1
HG00597.hp2
HG00609.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01261.hp1
HG01496.hp2
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp2
HG02293.hp1
HG02486.hp2
HG02523.hp1
HG02647.hp1
HG02683.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03139.hp1
HG03491.hp2
HG03688.hp1
HG03831.hp2
HG04184.hp2
HG04199.hp2
NA18939.hp1
NA18944.hp1
NA18964.hp2
NA18967.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19002.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.-145+42195A>G
c.-145+42195A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8774965
chr1:8774966 T
T
 C
C
 37 a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
others(34): Show 
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0050
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0031
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
 37 HG00140.hp1
HG00544.hp2
HG00639.hp2
others(34): Show 
HG00140.hp1
HG00544.hp2
HG00639.hp2
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG01358.hp2
HG01361.hp2
HG01884.hp2
HG01981.hp1
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02602.hp2
HG02622.hp2
HG02647.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02976.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03471.hp1
HG03540.hp2
HG03654.hp2
HG03831.hp1
HG04115.hp2
NA18906.hp1
NA18946.hp1
NA18973.hp1
NA19005.hp1
NA19043.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-145+42194A>G
c.-145+42194A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8774966
chr1:8775080 C
C
 T
T
 1 a0001c0002t0032g0155
a0001c0002t0032g0155
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.-145+42080G>A
c.-145+42080G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8775080
chr1:8775667 C
C
 A
A
 1 a0001c0004t0014g0126
a0001c0004t0014g0126
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.-145+41493G>T
c.-145+41493G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8775667
chr1:8775697 CAAGT
CAAGT
 C
C
 2 a0001c0001t0001g0013
a0001c0001t0003g0141
a0001c0001t0001g0013
a0001c0001t0003g0141
 2 HG01192.hp2
HG02683.hp1
HG01192.hp2
HG02683.hp1
 intron_variant MODIFIER c.-145+41459_-145+41
others(10): Show 
c.-145+41459_-145+41462delACTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8775697
chr1:8775886 G
G
 T
T
 1 a0007c0020t0039g0197
a0007c0020t0039g0197
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.-145+41274C>A
c.-145+41274C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8775886
chr1:8776102 G
G
 A
A
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-145+41058C>T
c.-145+41058C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8776102
chr1:8776391 A
A
 G
G
 162 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(159): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 162 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(159): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-145+40769T>C
c.-145+40769T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8776391
chr1:8776403 C
C
 T
T
 1 a0001c0004t0014g0126
a0001c0004t0014g0126
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.-145+40757G>A
c.-145+40757G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8776403
chr1:8776761 C
C
 T
T
 1 a0001c0001t0003g0102
a0001c0001t0003g0102
 1 HG03688.hp2
HG03688.hp2
 intron_variant MODIFIER c.-145+40399G>A
c.-145+40399G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8776761
chr1:8776814 G
G
 A
A
 1 a0005c0013t0029g0111
a0005c0013t0029g0111
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.-145+40346C>T
c.-145+40346C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8776814
chr1:8777063 A
A
 G
G
 1 a0001c0001t0003g0141
a0001c0001t0003g0141
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.-145+40097T>C
c.-145+40097T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8777063
chr1:8777277 T
T
 TC
TC
 3 a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0004t0006g0146
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0004t0006g0146
 3 HG02683.hp2
HG06807.hp2
NA19043.hp1
HG02683.hp2
HG06807.hp2
NA19043.hp1
 intron_variant MODIFIER c.-145+39882dupG
c.-145+39882dupG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8777277
chr1:8777320 AT
AT
 A
A
 5 a0001c0001t0001g0073
a0001c0001t0001g0074
a0003c0008t0001g0006
others(2): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0003c0008t0001g0006
a0003c0008t0001g0071
a0003c0008t0001g0072
 5 HG02647.hp1
HG02970.hp1
HG02976.hp1
others(2): Show 
HG02647.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03139.hp1
 intron_variant MODIFIER c.-145+39839delA
c.-145+39839delA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8777320
chr1:8777512 C
C
 G
G
 1 a0001c0002t0005g0125
a0001c0002t0005g0125
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.-145+39648G>C
c.-145+39648G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8777512
chr1:8777533 C
C
 CT
CT
 5 a0001c0001t0003g0087
a0001c0001t0003g0103
a0001c0002t0002g0148
others(2): Show 
a0001c0001t0003g0087
a0001c0001t0003g0103
a0001c0002t0002g0148
a0001c0003t0017g0032
a0001c0007t0003g0098
 5 HG03669.hp1
HG04115.hp2
HG04184.hp1
others(2): Show 
HG03669.hp1
HG04115.hp2
HG04184.hp1
NA19000.hp1
NA19090.hp2
 intron_variant MODIFIER c.-145+39626dupA
c.-145+39626dupA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8777533
chr1:8777709 A
A
 AT
AT
 41 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(38): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0004t0003g0092
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0008c0017t0003g0101
a0010c0027t0003g0086
 41 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(38): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00741.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02523.hp2
HG02683.hp2
HG02735.hp2
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04228.hp2
HG06807.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.-145+39450dupA
c.-145+39450dupA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8777709
chr1:8777757 G
G
 A
A
 1 a0001c0004t0006g0146
a0001c0004t0006g0146
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.-145+39403C>T
c.-145+39403C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8777757
chr1:8777890 T
T
 TA
TA
 51 a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
others(48): Show 
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0003g0103
a0001c0001t0003g0122
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0078
a0001c0003t0012g0018
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0005g0123
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0007t0001g0008
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0005c0013t0021g0023
a0006c0025t0007g0025
a0009c0021t0003g0135
 51 HG00140.hp1
HG00544.hp2
HG00639.hp2
others(48): Show 
HG00140.hp1
HG00544.hp2
HG00639.hp2
HG01168.hp2
HG01175.hp2
HG01192.hp1
HG01255.hp1
HG01358.hp2
HG01361.hp2
HG01884.hp1
HG01884.hp2
HG01981.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG02965.hp2
HG03130.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03540.hp2
HG03579.hp2
HG03654.hp2
HG03831.hp1
HG04115.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp1
NA18973.hp1
NA19005.hp2
NA19009.hp2
NA19090.hp2
NA20129.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-145+39269dupT
c.-145+39269dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8777890
chr1:8777966 G
G
 A
A
 1 a0001c0004t0025g0080
a0001c0004t0025g0080
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.-145+39194C>T
c.-145+39194C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8777966
chr1:8778240 G
G
 A
A
 1 a0001c0002t0002g0152
a0001c0002t0002g0152
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.-145+38920C>T
c.-145+38920C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8778240
chr1:8778341 A
A
 G
G
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-145+38819T>C
c.-145+38819T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8778341
chr1:8778377 T
T
 A
A
 1 a0002c0006t0003g0097
a0002c0006t0003g0097
 1 NA18944.hp2
NA18944.hp2
 intron_variant MODIFIER c.-145+38783A>T
c.-145+38783A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8778377
chr1:8778469 A
A
 G
G
 37 a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
others(34): Show 
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0078
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0031
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
 37 HG00140.hp1
HG00544.hp2
HG00639.hp2
others(34): Show 
HG00140.hp1
HG00544.hp2
HG00639.hp2
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG01358.hp2
HG01361.hp2
HG01884.hp2
HG01981.hp1
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02602.hp2
HG02622.hp2
HG02647.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02976.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03471.hp1
HG03540.hp2
HG03654.hp2
HG03831.hp1
HG04115.hp2
NA18906.hp1
NA18946.hp1
NA18973.hp1
NA19009.hp2
NA19043.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-145+38691T>C
c.-145+38691T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8778469
chr1:8778672 G
G
 A
A
 141 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(138): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0010c0027t0003g0086
 141 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(138): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp2
HG03471.hp1
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-145+38488C>T
c.-145+38488C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8778672
chr1:8778673 C
C
 T
T
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.-145+38487G>A
c.-145+38487G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8778673
chr1:8778899 T
T
 C
C
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.-145+38261A>G
c.-145+38261A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8778899
chr1:8779003 T
T
 C
C
 1 a0001c0001t0031g0144
a0001c0001t0031g0144
 1 NA18993.hp2
NA18993.hp2
 intron_variant MODIFIER c.-145+38157A>G
c.-145+38157A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8779003
chr1:8779220 C
C
 T
T
 2 a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0056
a0001c0001t0001g0057
 2 HG01167.hp2
HG01169.hp2
HG01167.hp2
HG01169.hp2
 intron_variant MODIFIER c.-145+37940G>A
c.-145+37940G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8779220
chr1:8779241 G
G
 A
A
 86 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(83): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0036g0194
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0018t0001g0005
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
 86 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(83): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01496.hp2
HG01884.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03471.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-145+37919C>T
c.-145+37919C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8779241
chr1:8779254 G
G
 A
A
 12 a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
others(9): Show 
a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0004t0022g0121
a0009c0021t0003g0135
 12 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(9): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03225.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.-145+37906C>T
c.-145+37906C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8779254
chr1:8779641 C
C
 T
T
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.-145+37519G>A
c.-145+37519G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8779641
chr1:8779644 C
C
 G
G
 7 a0001c0001t0003g0088
a0002c0006t0003g0089
a0002c0006t0003g0090
others(4): Show 
a0001c0001t0003g0088
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0010c0027t0003g0086
 7 HG01496.hp1
HG02132.hp1
HG02165.hp1
others(4): Show 
HG01496.hp1
HG02132.hp1
HG02165.hp1
NA18944.hp2
NA18985.hp1
NA19005.hp2
NA19074.hp2
 intron_variant MODIFIER c.-145+37516G>C
c.-145+37516G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8779644
chr1:8779660 C
C
 T
T
 2 a0001c0002t0005g0125
a0001c0005t0026g0127
a0001c0002t0005g0125
a0001c0005t0026g0127
 2 HG03453.hp1
NA21309.hp1
HG03453.hp1
NA21309.hp1
 intron_variant MODIFIER c.-145+37500G>A
c.-145+37500G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8779660
chr1:8780073 T
T
 A
A
 1 a0001c0015t0001g0009
a0001c0015t0001g0009
 1 HG02896.hp1
HG02896.hp1
 intron_variant MODIFIER c.-145+37087A>T
c.-145+37087A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8780073
chr1:8780074 C
C
 A
A
 1 a0001c0015t0001g0009
a0001c0015t0001g0009
 1 HG02896.hp1
HG02896.hp1
 intron_variant MODIFIER c.-145+37086G>T
c.-145+37086G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8780074
chr1:8780307 T
T
 A
A
 1 a0001c0003t0004g0017
a0001c0003t0004g0017
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.-145+36853A>T
c.-145+36853A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8780307
chr1:8781208 TAGCTGGG
others(25): Show 
TAGCTGGGCATGGTGGCACACACCTGTTGTCCC
 T
T
 1 a0001c0016t0020g0001
a0001c0016t0020g0001
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.-145+35920_-145+35
others(38): Show 
c.-145+35920_-145+35951delGGGACAACAGGTGTGTGCCACCAT
GCCCAGCT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8781208
chr1:8781356 C
C
 CA
CA
 11 a0001c0002t0002g0150
a0001c0003t0004g0014
a0001c0003t0015g0147
others(8): Show 
a0001c0002t0002g0150
a0001c0003t0004g0014
a0001c0003t0015g0147
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 11 HG01358.hp2
HG01981.hp2
HG02109.hp1
others(8): Show 
HG01358.hp2
HG01981.hp2
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02280.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.-145+35803dupT
c.-145+35803dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8781356
chr1:8781356 C
C
 CAA
CAA
 37 a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
others(34): Show 
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0112
a0001c0004t0003g0092
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0008c0017t0003g0101
a0010c0027t0003g0086
 37 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(34): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00741.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02523.hp2
HG02683.hp2
HG02735.hp2
HG03491.hp1
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.-145+35802_-145+35
others(8): Show 
c.-145+35802_-145+35803dupTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8781356
chr1:8781370 C
C
 A
A
 49 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(46): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0005c0013t0029g0111
a0008c0017t0003g0101
a0010c0027t0003g0086
 49 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(46): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00741.hp2
HG01167.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02523.hp2
HG02683.hp2
HG02723.hp1
HG02735.hp2
HG02886.hp2
HG03041.hp1
HG03195.hp2
HG03453.hp2
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04228.hp2
HG06807.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.-145+35790G>T
c.-145+35790G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8781370
chr1:8781437 T
T
 C
C
 1 a0001c0007t0004g0047
a0001c0007t0004g0047
 1 NA19070.hp2
NA19070.hp2
 intron_variant MODIFIER c.-145+35723A>G
c.-145+35723A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8781437
chr1:8781446 C
C
 T
T
 1 a0001c0011t0007g0027
a0001c0011t0007g0027
 1 HG02723.hp2
HG02723.hp2
 intron_variant MODIFIER c.-145+35714G>A
c.-145+35714G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8781446
chr1:8781489 A
A
 G
G
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.-145+35671T>C
c.-145+35671T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8781489
chr1:8781554 A
A
 G
G
 5 a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
others(2): Show 
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
 5 HG02109.hp1
HG02257.hp2
HG02818.hp1
others(2): Show 
HG02109.hp1
HG02257.hp2
HG02818.hp1
HG03209.hp1
HG03516.hp1
 intron_variant MODIFIER c.-145+35606T>C
c.-145+35606T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8781554
chr1:8781641 C
C
 T
T
 1 a0001c0002t0002g0167
a0001c0002t0002g0167
 1 HG02735.hp1
HG02735.hp1
 intron_variant MODIFIER c.-145+35519G>A
c.-145+35519G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8781641
chr1:8781695 G
G
 A
A
 1 a0001c0002t0005g0110
a0001c0002t0005g0110
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.-145+35465C>T
c.-145+35465C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8781695
chr1:8781853 A
A
 G
G
 1 a0001c0001t0001g0062
a0001c0001t0001g0062
 1 HG01496.hp2
HG01496.hp2
 intron_variant MODIFIER c.-145+35307T>C
c.-145+35307T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8781853
chr1:8781912 T
T
 C
C
 1 a0001c0005t0019g0030
a0001c0005t0019g0030
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.-145+35248A>G
c.-145+35248A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8781912
chr1:8782049 A
A
 G
G
 1 a0001c0001t0016g0054
a0001c0001t0016g0054
 1 HG02293.hp1
HG02293.hp1
 intron_variant MODIFIER c.-145+35111T>C
c.-145+35111T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8782049
chr1:8782116 A
A
 C
C
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.-145+35044T>G
c.-145+35044T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8782116
chr1:8782388 C
C
 T
T
 1 a0001c0001t0001g0059
a0001c0001t0001g0059
 1 HG01261.hp1
HG01261.hp1
 intron_variant MODIFIER c.-145+34772G>A
c.-145+34772G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8782388
chr1:8782632 G
G
 A
A
 1 a0001c0004t0040g0199
a0001c0004t0040g0199
 1 HG02970.hp2
HG02970.hp2
 intron_variant MODIFIER c.-145+34528C>T
c.-145+34528C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8782632
chr1:8782704 G
G
 A
A
 1 a0001c0002t0005g0110
a0001c0002t0005g0110
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.-145+34456C>T
c.-145+34456C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8782704
chr1:8782711 GCCTGGCC
others(13): Show 
GCCTGGCCAAAATGGTGAAAT
 G
G
 45 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(42): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0005c0013t0029g0111
a0008c0017t0003g0101
a0010c0027t0003g0086
 45 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(42): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00741.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02523.hp2
HG02683.hp2
HG02723.hp1
HG02735.hp2
HG03041.hp1
HG03195.hp2
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04228.hp2
HG06807.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.-145+34429_-145+34
others(26): Show 
c.-145+34429_-145+34448delATTTCACCATTTTGGCCAGG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8782711
chr1:8782739 C
C
 T
T
 1 a0001c0004t0001g0003
a0001c0004t0001g0003
 1 HG04184.hp2
HG04184.hp2
 intron_variant MODIFIER c.-145+34421G>A
c.-145+34421G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8782739
chr1:8782807 G
G
 A
A
 1 a0001c0002t0005g0125
a0001c0002t0005g0125
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.-145+34353C>T
c.-145+34353C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8782807
chr1:8782890 A
A
 AGT
AGT
 3 a0001c0002t0002g0165
a0001c0002t0002g0176
a0001c0023t0002g0175
a0001c0002t0002g0165
a0001c0002t0002g0176
a0001c0023t0002g0175
 3 NA18939.hp2
NA18967.hp2
NA19085.hp1
NA18939.hp2
NA18967.hp2
NA19085.hp1
 intron_variant MODIFIER c.-145+34268_-145+34
others(8): Show 
c.-145+34268_-145+34269dupAC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8782890
chr1:8782997 G
G
 T
T
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-145+34163C>A
c.-145+34163C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8782997
chr1:8783076 A
A
 G
G
 5 a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
others(2): Show 
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
 5 HG02109.hp1
HG02257.hp2
HG02818.hp1
others(2): Show 
HG02109.hp1
HG02257.hp2
HG02818.hp1
HG03209.hp1
HG03516.hp1
 intron_variant MODIFIER c.-145+34084T>C
c.-145+34084T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8783076
chr1:8783144 G
G
 A
A
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.-145+34016C>T
c.-145+34016C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8783144
chr1:8783207 T
T
 C
C
 1 a0001c0002t0005g0116
a0001c0002t0005g0116
 1 HG00639.hp1
HG00639.hp1
 intron_variant MODIFIER c.-145+33953A>G
c.-145+33953A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8783207
chr1:8783225 C
C
 T
T
 1 a0001c0001t0001g0067
a0001c0001t0001g0067
 1 HG03831.hp2
HG03831.hp2
 intron_variant MODIFIER c.-145+33935G>A
c.-145+33935G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8783225
chr1:8783398 T
T
 C
C
 1 a0001c0003t0004g0036
a0001c0003t0004g0036
 1 HG02698.hp1
HG02698.hp1
 intron_variant MODIFIER c.-145+33762A>G
c.-145+33762A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8783398
chr1:8783520 C
C
 A
A
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.-145+33640G>T
c.-145+33640G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8783520
chr1:8783608 C
C
 A
A
 2 a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0130
a0001c0002t0005g0131
 2 HG02809.hp1
HG03471.hp2
HG02809.hp1
HG03471.hp2
 intron_variant MODIFIER c.-145+33552G>T
c.-145+33552G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8783608
chr1:8783616 G
G
 C
C
 1 a0001c0004t0005g0123
a0001c0004t0005g0123
 1 HG02602.hp2
HG02602.hp2
 intron_variant MODIFIER c.-145+33544C>G
c.-145+33544C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8783616
chr1:8783651 T
T
 C
C
 1 a0001c0002t0005g0114
a0001c0002t0005g0114
 1 HG02004.hp1
HG02004.hp1
 intron_variant MODIFIER c.-145+33509A>G
c.-145+33509A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8783651
chr1:8783665 A
A
 T
T
 7 a0001c0001t0003g0088
a0002c0006t0003g0089
a0002c0006t0003g0090
others(4): Show 
a0001c0001t0003g0088
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0010c0027t0003g0086
 7 HG01496.hp1
HG02132.hp1
HG02165.hp1
others(4): Show 
HG01496.hp1
HG02132.hp1
HG02165.hp1
NA18944.hp2
NA18985.hp1
NA19005.hp2
NA19074.hp2
 intron_variant MODIFIER c.-145+33495T>A
c.-145+33495T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8783665
chr1:8784385 A
A
 G
G
 1 a0005c0013t0029g0111
a0005c0013t0029g0111
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.-145+32775T>C
c.-145+32775T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8784385
chr1:8784404 C
C
 T
T
 1 a0001c0016t0020g0001
a0001c0016t0020g0001
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.-145+32756G>A
c.-145+32756G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8784404
chr1:8784417 A
A
 G
G
 2 a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0041
a0001c0003t0004g0042
 2 NA18939.hp1
NA18993.hp1
NA18939.hp1
NA18993.hp1
 intron_variant MODIFIER c.-145+32743T>C
c.-145+32743T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8784417
chr1:8784466 T
T
 A
A
 6 a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0014
others(3): Show 
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0014
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0015g0147
 6 HG00639.hp2
HG01358.hp2
HG02280.hp2
others(3): Show 
HG00639.hp2
HG01358.hp2
HG02280.hp2
HG02698.hp1
HG03654.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-145+32694A>T
c.-145+32694A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8784466
chr1:8784473 T
T
 G
G
 1 a0001c0002t0005g0110
a0001c0002t0005g0110
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.-145+32687A>C
c.-145+32687A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8784473
chr1:8784513 G
G
 C
C
 1 a0001c0003t0011g0096
a0001c0003t0011g0096
 1 HG02074.hp1
HG02074.hp1
 intron_variant MODIFIER c.-145+32647C>G
c.-145+32647C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8784513
chr1:8784541 C
C
 T
T
 141 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(138): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0010c0027t0003g0086
 141 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(138): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp2
HG03471.hp1
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-145+32619G>A
c.-145+32619G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8784541
chr1:8784545 C
C
 T
T
 3 a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
 3 HG02280.hp1
HG02451.hp2
HG02723.hp2
HG02280.hp1
HG02451.hp2
HG02723.hp2
 intron_variant MODIFIER c.-145+32615G>A
c.-145+32615G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8784545
chr1:8785140 C
C
 A
A
 31 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(28): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0030g0143
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0004t0003g0092
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0008c0017t0003g0101
a0010c0027t0003g0086
 31 HG00280.hp2
HG00609.hp1
HG00741.hp2
others(28): Show 
HG00280.hp2
HG00609.hp1
HG00741.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02735.hp2
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18983.hp1
NA18985.hp1
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.-145+32020G>T
c.-145+32020G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8785140
chr1:8785351 A
A
 T
T
 3 a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0004t0006g0146
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0004t0006g0146
 3 HG02683.hp2
HG06807.hp2
NA19043.hp1
HG02683.hp2
HG06807.hp2
NA19043.hp1
 intron_variant MODIFIER c.-145+31809T>A
c.-145+31809T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8785351
chr1:8785603 T
T
 C
C
 3 a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0025g0080
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0025g0080
 3 HG01433.hp2
HG02735.hp2
HG04228.hp2
HG01433.hp2
HG02735.hp2
HG04228.hp2
 intron_variant MODIFIER c.-145+31557A>G
c.-145+31557A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8785603
chr1:8785741 C
C
 T
T
 1 a0001c0002t0002g0180
a0001c0002t0002g0180
 1 HG02080.hp2
HG02080.hp2
 intron_variant MODIFIER c.-145+31419G>A
c.-145+31419G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8785741
chr1:8785742 C
C
 T
T
 1 a0001c0007t0001g0008
a0001c0007t0001g0008
 1 HG03831.hp1
HG03831.hp1
 intron_variant MODIFIER c.-145+31418G>A
c.-145+31418G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8785742
chr1:8785775 C
C
 G
G
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-145+31385G>C
c.-145+31385G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8785775
chr1:8785788 A
A
 G
G
 1 a0001c0001t0001g0033
a0001c0001t0001g0033
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.-145+31372T>C
c.-145+31372T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8785788
chr1:8786002 G
G
 A
A
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-145+31158C>T
c.-145+31158C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8786002
chr1:8786123 C
C
 CT
CT
 5 a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
others(2): Show 
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
 5 HG02109.hp1
HG02257.hp2
HG02818.hp1
others(2): Show 
HG02109.hp1
HG02257.hp2
HG02818.hp1
HG03209.hp1
HG03516.hp1
 intron_variant MODIFIER c.-145+31036dupA
c.-145+31036dupA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8786123
chr1:8786483 T
T
 C
C
 1 a0001c0007t0001g0008
a0001c0007t0001g0008
 1 HG03831.hp1
HG03831.hp1
 intron_variant MODIFIER c.-145+30677A>G
c.-145+30677A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8786483
chr1:8786646 G
G
 A
A
 4 a0001c0001t0001g0073
a0003c0008t0001g0006
a0003c0008t0001g0071
others(1): Show 
a0001c0001t0001g0073
a0003c0008t0001g0006
a0003c0008t0001g0071
a0003c0008t0001g0072
 4 HG02647.hp1
HG02970.hp1
HG03041.hp2
others(1): Show 
HG02647.hp1
HG02970.hp1
HG03041.hp2
HG03139.hp1
 intron_variant MODIFIER c.-145+30514C>T
c.-145+30514C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8786646
chr1:8786647 C
C
 T
T
 4 a0001c0001t0001g0073
a0003c0008t0001g0006
a0003c0008t0001g0071
others(1): Show 
a0001c0001t0001g0073
a0003c0008t0001g0006
a0003c0008t0001g0071
a0003c0008t0001g0072
 4 HG02647.hp1
HG02970.hp1
HG03041.hp2
others(1): Show 
HG02647.hp1
HG02970.hp1
HG03041.hp2
HG03139.hp1
 intron_variant MODIFIER c.-145+30513G>A
c.-145+30513G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8786647
chr1:8786730 C
C
 T
T
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-145+30430G>A
c.-145+30430G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8786730
chr1:8787321 C
C
 T
T
 89 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(86): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0036g0194
a0001c0002t0002g0157
a0001c0002t0013g0053
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0018t0001g0005
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
 89 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(86): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01496.hp2
HG01884.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03471.hp1
HG03491.hp2
HG03540.hp2
HG03579.hp1
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-145+29839G>A
c.-145+29839G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8787321
chr1:8787617 G
G
 T
T
 1 a0001c0001t0001g0055
a0001c0001t0001g0055
 1 HG04199.hp2
HG04199.hp2
 intron_variant MODIFIER c.-145+29543C>A
c.-145+29543C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8787617
chr1:8787699 T
T
 C
C
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-145+29461A>G
c.-145+29461A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8787699
chr1:8787759 T
T
 C
C
 1 a0001c0001t0001g0073
a0001c0001t0001g0073
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.-145+29401A>G
c.-145+29401A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8787759
chr1:8787830 C
C
 CA
CA
 101 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(98): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0002t0002g0157
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0180
a0001c0002t0005g0110
a0001c0002t0013g0053
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0109
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0019g0030
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0098
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0018t0001g0005
a0001c0022t0008g0082
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
 101 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(98): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01496.hp2
HG01884.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02559.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp2
HG02886.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03491.hp2
HG03540.hp2
HG03579.hp1
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18973.hp1
NA18983.hp2
NA18993.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-145+29329dupT
c.-145+29329dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8787830
chr1:8787830 C
C
 CAA
CAA
 10 a0001c0001t0001g0075
a0001c0001t0036g0194
a0001c0003t0004g0017
others(7): Show 
a0001c0001t0001g0075
a0001c0001t0036g0194
a0001c0003t0004g0017
a0001c0003t0017g0032
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0004c0012t0008g0137
 10 HG00140.hp1
HG02109.hp1
HG02257.hp2
others(7): Show 
HG00140.hp1
HG02109.hp1
HG02257.hp2
HG02818.hp1
HG03195.hp1
HG03209.hp1
HG03516.hp1
HG04115.hp2
NA18967.hp1
NA18985.hp2
 intron_variant MODIFIER c.-145+29328_-145+29
others(8): Show 
c.-145+29328_-145+29329dupTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8787830
chr1:8787880 T
T
 C
C
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.-145+29280A>G
c.-145+29280A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8787880
chr1:8788162 T
T
 C
C
 5 a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
others(2): Show 
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0014t0002g0191
 5 HG01168.hp1
HG01169.hp1
HG01255.hp2
others(2): Show 
HG01168.hp1
HG01169.hp1
HG01255.hp2
HG01361.hp1
HG04228.hp1
 intron_variant MODIFIER c.-145+28998A>G
c.-145+28998A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8788162
chr1:8788362 G
G
 GT
GT
 9 a0001c0001t0001g0043
a0001c0001t0001g0065
a0001c0001t0001g0067
others(6): Show 
a0001c0001t0001g0043
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0075
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0006g0170
a0001c0001t0036g0194
a0001c0007t0003g0098
 9 HG02074.hp2
HG02080.hp1
HG02698.hp2
others(6): Show 
HG02074.hp2
HG02080.hp1
HG02698.hp2
HG03688.hp2
HG03831.hp2
NA18967.hp1
NA18985.hp2
NA19000.hp1
NA19090.hp2
 intron_variant MODIFIER c.-145+28797dupA
c.-145+28797dupA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8788362
chr1:8788494 A
A
 T
T
 2 a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0153
a0001c0001t0006g0154
 2 HG03225.hp2
NA20300.hp2
HG03225.hp2
NA20300.hp2
 intron_variant MODIFIER c.-145+28666T>A
c.-145+28666T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8788494
chr1:8788643 G
G
 A
A
 15 a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
others(12): Show 
a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0022g0121
a0001c0016t0020g0001
a0009c0021t0003g0135
 15 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(12): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02559.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03225.hp1
HG03471.hp2
HG03579.hp2
NA18906.hp2
NA20129.hp2
 intron_variant MODIFIER c.-145+28517C>T
c.-145+28517C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8788643
chr1:8788666 G
G
 GT
GT
 144 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(141): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0030g0143
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 144 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(141): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-145+28493dupA
c.-145+28493dupA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8788666
chr1:8788889 G
G
 A
A
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-145+28271C>T
c.-145+28271C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8788889
chr1:8789120 T
T
 C
C
 3 a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
 3 HG02145.hp1
HG02970.hp2
HG06807.hp1
HG02145.hp1
HG02970.hp2
HG06807.hp1
 intron_variant MODIFIER c.-145+28040A>G
c.-145+28040A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8789120
chr1:8789214 G
G
 A
A
 1 a0001c0004t0014g0126
a0001c0004t0014g0126
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.-145+27946C>T
c.-145+27946C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8789214
chr1:8789223 T
T
 A
A
 20 a0001c0001t0003g0122
a0001c0002t0005g0125
a0001c0002t0005g0128
others(17): Show 
a0001c0001t0003g0122
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0003t0004g0035
a0001c0003t0015g0147
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0005t0026g0127
a0001c0016t0020g0001
a0009c0021t0003g0135
 20 HG00639.hp2
HG01167.hp1
HG01175.hp2
others(17): Show 
HG00639.hp2
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02280.hp2
HG02559.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02965.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp2
HG03579.hp2
NA18906.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.-145+27937A>T
c.-145+27937A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8789223
chr1:8789279 T
T
 C
C
 1 a0001c0002t0002g0177
a0001c0002t0002g0177
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.-145+27881A>G
c.-145+27881A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8789279
chr1:8789282 C
C
 CAAAAAAA
others(3): Show 
CAAAAAAAAAA
 4 a0001c0002t0002g0163
a0001c0002t0002g0167
a0001c0009t0041g0198
others(1): Show 
a0001c0002t0002g0163
a0001c0002t0002g0167
a0001c0009t0041g0198
a0001c0023t0002g0175
 4 HG02145.hp1
HG02451.hp1
HG02735.hp1
others(1): Show 
HG02145.hp1
HG02451.hp1
HG02735.hp1
NA18939.hp2
 intron_variant MODIFIER c.-145+27868_-145+27
others(16): Show 
c.-145+27868_-145+27877dupTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8789282
chr1:8789282 C
C
 CAAAAAAA
others(4): Show 
CAAAAAAAAAAA
 16 a0001c0001t0006g0170
a0001c0002t0002g0151
a0001c0002t0002g0158
others(13): Show 
a0001c0001t0006g0170
a0001c0002t0002g0151
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0178
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0024t0002g0182
 16 HG00741.hp1
HG01168.hp1
HG01169.hp1
others(13): Show 
HG00741.hp1
HG01168.hp1
HG01169.hp1
HG01255.hp2
HG01261.hp2
HG01515.hp2
HG01517.hp1
HG01934.hp2
HG02132.hp2
HG02293.hp2
HG02698.hp2
HG02896.hp2
HG03654.hp1
HG04199.hp1
HG04228.hp1
NA20752.hp1
 intron_variant MODIFIER c.-145+27867_-145+27
others(17): Show 
c.-145+27867_-145+27877dupTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8789282
chr1:8789282 C
C
 CAAAAAAA
others(5): Show 
CAAAAAAAAAAAA
 4 a0001c0001t0006g0181
a0001c0002t0002g0192
a0001c0002t0002g0193
others(1): Show 
a0001c0001t0006g0181
a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0035g0160
 4 HG01175.hp1
HG01358.hp1
HG03669.hp2
others(1): Show 
HG01175.hp1
HG01358.hp1
HG03669.hp2
HG04115.hp1
 intron_variant MODIFIER c.-145+27866_-145+27
others(18): Show 
c.-145+27866_-145+27877dupTTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8789282
chr1:8789282 C
C
 CAAAAAAA
others(6): Show 
CAAAAAAAAAAAAA
 1 a0001c0002t0002g0148
a0001c0002t0002g0148
 1 HG04184.hp1
HG04184.hp1
 intron_variant MODIFIER c.-145+27865_-145+27
others(19): Show 
c.-145+27865_-145+27877dupTTTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8789282
chr1:8789282 C
C
 CAAAAAAA
others(11): Show 
CAAAAAAAAAAAAAAAAAA
 1 a0001c0003t0011g0096
a0001c0003t0011g0096
 1 HG02074.hp1
HG02074.hp1
 intron_variant MODIFIER c.-145+27860_-145+27
others(24): Show 
c.-145+27860_-145+27877dupTTTTTTTTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8789282
chr1:8789282 CA
CA
 C
C
 33 a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0003t0004g0007
others(30): Show 
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0078
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0031
a0005c0013t0021g0023
a0006c0025t0007g0025
 33 HG00140.hp1
HG00544.hp2
HG00639.hp2
others(30): Show 
HG00140.hp1
HG00544.hp2
HG00639.hp2
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG01358.hp2
HG01361.hp2
HG01884.hp2
HG01981.hp1
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02622.hp2
HG02647.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG03130.hp2
HG03139.hp2
HG03471.hp1
HG03540.hp2
HG03654.hp2
HG03831.hp1
HG04115.hp2
NA18946.hp1
NA18973.hp1
NA19009.hp2
NA19043.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-145+27877delT
c.-145+27877delT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8789282
chr1:8789295 A
A
 AT
AT
 4 a0001c0001t0001g0073
a0001c0003t0004g0042
a0003c0008t0001g0006
others(1): Show 
a0001c0001t0001g0073
a0001c0003t0004g0042
a0003c0008t0001g0006
a0003c0008t0001g0071
 4 HG02970.hp1
HG03041.hp2
HG03139.hp1
others(1): Show 
HG02970.hp1
HG03041.hp2
HG03139.hp1
NA18993.hp1
 intron_variant MODIFIER c.-145+27864_-145+27
others(7): Show 
c.-145+27864_-145+27865insA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8789295
chr1:8789295 A
A
 T
T
 3 a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
 3 HG00280.hp1
HG01167.hp2
HG01169.hp2
HG00280.hp1
HG01167.hp2
HG01169.hp2
 intron_variant MODIFIER c.-145+27865T>A
c.-145+27865T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8789295
chr1:8789297 A
A
 AT
AT
 3 a0001c0001t0001g0074
a0003c0008t0001g0072
a0004c0012t0008g0137
a0001c0001t0001g0074
a0003c0008t0001g0072
a0004c0012t0008g0137
 3 HG02647.hp1
HG02976.hp1
HG03195.hp1
HG02647.hp1
HG02976.hp1
HG03195.hp1
 intron_variant MODIFIER c.-145+27862_-145+27
others(7): Show 
c.-145+27862_-145+27863insA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8789297
chr1:8789297 A
A
 T
T
 35 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0038
others(32): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0073
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0141
a0001c0001t0016g0054
a0001c0001t0036g0194
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0018t0001g0005
a0003c0008t0001g0006
a0003c0008t0001g0071
a0004c0012t0008g0138
 35 HG00140.hp2
HG00280.hp1
HG00597.hp2
others(32): Show 
HG00140.hp2
HG00280.hp1
HG00597.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01261.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp2
HG02293.hp1
HG02486.hp2
HG02523.hp1
HG02683.hp1
HG02970.hp1
HG02976.hp2
HG03041.hp2
HG03139.hp1
HG03688.hp1
HG04199.hp2
NA18964.hp2
NA18967.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19002.hp1
NA19007.hp1
NA19070.hp2
NA19074.hp1
NA19090.hp1
NA20300.hp1
 intron_variant MODIFIER c.-145+27863T>A
c.-145+27863T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8789297
chr1:8789299 A
A
 T
T
 52 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(49): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0036g0194
a0001c0002t0013g0053
a0001c0003t0004g0019
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0005g0123
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0018t0001g0005
a0003c0008t0001g0006
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
 52 HG00140.hp2
HG00280.hp1
HG00597.hp2
others(49): Show 
HG00140.hp2
HG00280.hp1
HG00597.hp2
HG00609.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01261.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02293.hp1
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02647.hp1
HG02683.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03139.hp1
HG03195.hp1
HG03491.hp2
HG03688.hp1
HG03831.hp2
HG04184.hp2
HG04199.hp2
NA18939.hp1
NA18944.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19007.hp1
NA19009.hp1
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.-145+27861T>A
c.-145+27861T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8789299
chr1:8789301 A
A
 AAAAAAAA
others(25): Show 
AAAAAAAAAAAAAAAAAAAAAAAAAAAATATAT
 1 a0010c0027t0003g0086
a0010c0027t0003g0086
 1 NA18985.hp1
NA18985.hp1
 intron_variant MODIFIER c.-145+27858_-145+27
others(38): Show 
c.-145+27858_-145+27859insATATATTTTTTTTTTTTTTTTTTT
TTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8789301
chr1:8789301 A
A
 AAAAAAAA
others(32): Show 
AAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATAT
 1 a0001c0002t0032g0155
a0001c0002t0032g0155
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.-145+27858_-145+27
others(45): Show 
c.-145+27858_-145+27859insATATATATATATATTTTTTTTTTT
TTTTTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8789301
chr1:8789301 A
A
 AAAAAAAA
others(25): Show 
AAAAAAAAAAAAAAAAAAAAAAAAAATATATAT
 1 a0001c0001t0003g0100
a0001c0001t0003g0100
 1 NA19007.hp2
NA19007.hp2
 intron_variant MODIFIER c.-145+27858_-145+27
others(38): Show 
c.-145+27858_-145+27859insATATATATTTTTTTTTTTTTTTTT
TTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8789301
chr1:8789301 A
A
 AAAAAAAA
others(22): Show 
AAAAAAAAAAAAAAAAAAAAAAATATATAT
 1 a0001c0007t0003g0098
a0001c0007t0003g0098
 1 NA19000.hp1
NA19000.hp1
 intron_variant MODIFIER c.-145+27858_-145+27
others(35): Show 
c.-145+27858_-145+27859insATATATATTTTTTTTTTTTTTTTT
TTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8789301
chr1:8789301 A
A
 AAAAAAAA
others(19): Show 
AAAAAAAAAAAAAAAAAAAAAATATAT
 1 a0001c0002t0005g0130
a0001c0002t0005g0130
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.-145+27858_-145+27
others(32): Show 
c.-145+27858_-145+27859insATATATTTTTTTTTTTTTTTTTTT
TT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8789301
chr1:8789301 A
A
 AAAAAAAA
others(21): Show 
AAAAAAAAAAAAAAAAAAAAAATATATAT
 1 a0001c0001t0003g0103
a0001c0001t0003g0103
 1 NA19090.hp2
NA19090.hp2
 intron_variant MODIFIER c.-145+27858_-145+27
others(34): Show 
c.-145+27858_-145+27859insATATATATTTTTTTTTTTTTTTTT
TTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8789301
chr1:8789301 A
A
 AAAAAAAA
others(25): Show 
AAAAAAAAAAAAAAAAAAAAAATATATATATAT
 1 a0002c0006t0003g0097
a0002c0006t0003g0097
 1 NA18944.hp2
NA18944.hp2
 intron_variant MODIFIER c.-145+27858_-145+27
others(38): Show 
c.-145+27858_-145+27859insATATATATATATTTTTTTTTTTTT
TTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8789301
chr1:8789301 A
A
 AAAAAAAA
others(20): Show 
AAAAAAAAAAAAAAAAAAAAATATATAT
 3 a0001c0001t0030g0143
a0001c0001t0037g0196
a0001c0007t0003g0084
a0001c0001t0030g0143
a0001c0001t0037g0196
a0001c0007t0003g0084
 3 HG01517.hp2
HG02155.hp2
NA18983.hp1
HG01517.hp2
HG02155.hp2
NA18983.hp1
 intron_variant MODIFIER c.-145+27858_-145+27
others(33): Show 
c.-145+27858_-145+27859insATATATATTTTTTTTTTTTTTTTT
TTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8789301
chr1:8789301 A
A
 AAAAAAAA
others(23): Show 
AAAAAAAAAAAAAAAAAAAATATATATATAT
 2 a0001c0003t0008g0085
a0002c0006t0003g0091
a0001c0003t0008g0085
a0002c0006t0003g0091
 2 HG01934.hp1
NA19002.hp2
HG01934.hp1
NA19002.hp2
 intron_variant MODIFIER c.-145+27858_-145+27
others(36): Show 
c.-145+27858_-145+27859insATATATATATATTTTTTTTTTTTT
TTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8789301
chr1:8789301 A
A
 AAAAAAAA
others(20): Show 
AAAAAAAAAAAAAAAAAAATATATATAT
 4 a0001c0003t0008g0105
a0001c0004t0003g0092
a0002c0006t0003g0094
others(1): Show 
a0001c0003t0008g0105
a0001c0004t0003g0092
a0002c0006t0003g0094
a0008c0017t0003g0101
 4 HG00741.hp2
HG01433.hp1
NA19074.hp2
others(1): Show 
HG00741.hp2
HG01433.hp1
NA19074.hp2
NA20905.hp2
 intron_variant MODIFIER c.-145+27858_-145+27
others(33): Show 
c.-145+27858_-145+27859insATATATATATTTTTTTTTTTTTTT
TTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8789301
chr1:8789301 A
A
 AAAAAAAA
others(22): Show 
AAAAAAAAAAAAAAAAAAATATATATATAT
 2 a0001c0001t0003g0117
a0002c0006t0003g0090
a0001c0001t0003g0117
a0002c0006t0003g0090
 2 HG02165.hp1
NA18973.hp2
HG02165.hp1
NA18973.hp2
 intron_variant MODIFIER c.-145+27858_-145+27
others(35): Show 
c.-145+27858_-145+27859insATATATATATATTTTTTTTTTTTT
TTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8789301
chr1:8789301 A
A
 AAAAAAAA
others(26): Show 
AAAAAAAAAAAAAAAAAAATATATATATATATAT
 1 a0001c0005t0026g0127
a0001c0005t0026g0127
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.-145+27858_-145+27
others(39): Show 
c.-145+27858_-145+27859insATATATATATATATATTTTTTTTT
TTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8789301
chr1:8789301 A
A
 AAAAAAAA
others(28): Show 
AAAAAAAAAAAAAAAAAAATATATATATATATATAT
 1 a0001c0004t0005g0083
a0001c0004t0005g0083
 1 HG01433.hp2
HG01433.hp2
 intron_variant MODIFIER c.-145+27858_-145+27
others(41): Show 
c.-145+27858_-145+27859insATATATATATATATATATTTTTTT
TTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8789301
chr1:8789301 A
A
 AAAAAAAA
others(17): Show 
AAAAAAAAAAAAAAAAAATATATAT
 1 a0001c0002t0005g0134
a0001c0002t0005g0134
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.-145+27858_-145+27
others(30): Show 
c.-145+27858_-145+27859insATATATATTTTTTTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8789301
chr1:8789301 A
A
 AAAAAAAA
others(21): Show 
AAAAAAAAAAAAAAAAAATATATATATAT
 1 a0001c0001t0003g0087
a0001c0001t0003g0087
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.-145+27858_-145+27
others(34): Show 
c.-145+27858_-145+27859insATATATATATATTTTTTTTTTTTT
TTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8789301
chr1:8789301 A
A
 AAAAAAAA
others(23): Show 
AAAAAAAAAAAAAAAAAATATATATATATAT
 1 a0001c0007t0003g0099
a0001c0007t0003g0099
 1 NA20752.hp2
NA20752.hp2
 intron_variant MODIFIER c.-145+27858_-145+27
others(36): Show 
c.-145+27858_-145+27859insATATATATATATATTTTTTTTTTT
TTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8789301
chr1:8789301 A
A
 AAAAAAAA
others(25): Show 
AAAAAAAAAAAAAAAAAATATATATATATATAT
 1 a0001c0001t0003g0095
a0001c0001t0003g0095
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.-145+27858_-145+27
others(38): Show 
c.-145+27858_-145+27859insATATATATATATATATTTTTTTTT
TTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8789301
chr1:8789301 A
A
 AAAAAAAA
others(27): Show 
AAAAAAAAAAAAAAAAAATATATATATATATATAT
 2 a0001c0001t0003g0093
a0001c0002t0006g0145
a0001c0001t0003g0093
a0001c0002t0006g0145
 2 HG03491.hp1
NA18964.hp1
HG03491.hp1
NA18964.hp1
 intron_variant MODIFIER c.-145+27858_-145+27
others(40): Show 
c.-145+27858_-145+27859insATATATATATATATATATTTTTTT
TTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8789301
chr1:8789301 A
A
 AAAAAAAA
others(35): Show 
AAAAAAAAAAAAAAAAAATATATATATATATATATATATATAT
 1 a0001c0002t0005g0116
a0001c0002t0005g0116
 1 HG00639.hp1
HG00639.hp1
 intron_variant MODIFIER c.-145+27858_-145+27
others(48): Show 
c.-145+27858_-145+27859insATATATATATATATATATATATAT
ATTTTTTTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8789301
chr1:8789301 A
A
 AAAAAAAA
others(14): Show 
AAAAAAAAAAAAAAAAATATAT
 5 a0001c0002t0005g0129
a0001c0002t0005g0132
a0001c0002t0005g0136
others(2): Show 
a0001c0002t0005g0129
a0001c0002t0005g0132
a0001c0002t0005g0136
a0001c0002t0028g0133
a0009c0021t0003g0135
 5 HG01175.hp2
HG02109.hp2
HG02886.hp1
others(2): Show 
HG01175.hp2
HG02109.hp2
HG02886.hp1
HG03225.hp1
NA18906.hp2
 intron_variant MODIFIER c.-145+27858_-145+27
others(27): Show 
c.-145+27858_-145+27859insATATATTTTTTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8789301
chr1:8789301 A
A
 AAAAAAAA
others(16): Show 
AAAAAAAAAAAAAAAAATATATAT
 1 a0001c0002t0018g0002
a0001c0002t0018g0002
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.-145+27858_-145+27
others(29): Show 
c.-145+27858_-145+27859insATATATATTTTTTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8789301
chr1:8789301 A
A
 AAAAAAAA
others(20): Show 
AAAAAAAAAAAAAAAAATATATATATAT
 4 a0001c0001t0003g0104
a0001c0022t0008g0082
a0002c0006t0003g0089
others(1): Show 
a0001c0001t0003g0104
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0024g0081
 4 HG00280.hp2
HG00609.hp1
HG02132.hp1
others(1): Show 
HG00280.hp2
HG00609.hp1
HG02132.hp1
NA19005.hp2
 intron_variant MODIFIER c.-145+27858_-145+27
others(33): Show 
c.-145+27858_-145+27859insATATATATATATTTTTTTTTTTTT
TTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8789301
chr1:8789301 A
A
 AAAAAAAA
others(22): Show 
AAAAAAAAAAAAAAAAATATATATATATAT
 1 a0001c0001t0003g0102
a0001c0001t0003g0102
 1 HG03688.hp2
HG03688.hp2
 intron_variant MODIFIER c.-145+27858_-145+27
others(35): Show 
c.-145+27858_-145+27859insATATATATATATATTTTTTTTTTT
TTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8789301
chr1:8789301 A
A
 AAAAAAAA
others(24): Show 
AAAAAAAAAAAAAAAAATATATATATATATAT
 1 a0001c0001t0003g0088
a0001c0001t0003g0088
 1 HG01496.hp1
HG01496.hp1
 intron_variant MODIFIER c.-145+27858_-145+27
others(37): Show 
c.-145+27858_-145+27859insATATATATATATATATTTTTTTTT
TTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8789301
chr1:8789301 A
A
 AAAAAAAA
others(26): Show 
AAAAAAAAAAAAAAAAATATATATATATATATAT
 2 a0001c0004t0025g0080
a0001c0005t0034g0156
a0001c0004t0025g0080
a0001c0005t0034g0156
 2 HG02622.hp1
HG04228.hp2
HG02622.hp1
HG04228.hp2
 intron_variant MODIFIER c.-145+27858_-145+27
others(39): Show 
c.-145+27858_-145+27859insATATATATATATATATATTTTTTT
TTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8789301
chr1:8789301 A
A
 AAAAAAAA
others(28): Show 
AAAAAAAAAAAAAAAAATATATATATATATATATAT
 1 a0001c0004t0005g0079
a0001c0004t0005g0079
 1 HG02735.hp2
HG02735.hp2
 intron_variant MODIFIER c.-145+27858_-145+27
others(41): Show 
c.-145+27858_-145+27859insATATATATATATATATATATTTTT
TTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8789301
chr1:8789301 A
A
 AAAAAAAA
others(13): Show 
AAAAAAAAAAAAAAAATATAT
 2 a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0001t0003g0122
a0001c0002t0005g0128
 2 HG01884.hp1
HG02145.hp2
HG01884.hp1
HG02145.hp2
 intron_variant MODIFIER c.-145+27858_-145+27
others(26): Show 
c.-145+27858_-145+27859insATATATTTTTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8789301
chr1:8789301 A
A
 AAAAAAAA
others(19): Show 
AAAAAAAAAAAAAAAATATATATATAT
 1 a0001c0001t0038g0195
a0001c0001t0038g0195
 1 HG01515.hp1
HG01515.hp1
 intron_variant MODIFIER c.-145+27858_-145+27
others(32): Show 
c.-145+27858_-145+27859insATATATATATATTTTTTTTTTTTT
TT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8789301
chr1:8789301 A
A
 AAAAAAAA
others(21): Show 
AAAAAAAAAAAAAAAATATATATATATAT
 3 a0001c0001t0003g0115
a0001c0001t0023g0113
a0001c0001t0031g0144
a0001c0001t0003g0115
a0001c0001t0023g0113
a0001c0001t0031g0144
 3 HG00544.hp1
HG00597.hp1
NA18993.hp2
HG00544.hp1
HG00597.hp1
NA18993.hp2
 intron_variant MODIFIER c.-145+27858_-145+27
others(34): Show 
c.-145+27858_-145+27859insATATATATATATATTTTTTTTTTT
TTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8789301
chr1:8789301 A
A
 AAAAAAAA
others(27): Show 
AAAAAAAAAAAAAAAATATATATATATATATATAT
 1 a0001c0004t0006g0146
a0001c0004t0006g0146
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.-145+27858_-145+27
others(40): Show 
c.-145+27858_-145+27859insATATATATATATATATATATTTTT
TTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8789301
chr1:8789301 A
A
 AAAAAAAA
others(29): Show 
AAAAAAAAAAAAAAAATATATATATATATATATATAT
 1 a0001c0002t0005g0125
a0001c0002t0005g0125
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.-145+27858_-145+27
others(42): Show 
c.-145+27858_-145+27859insATATATATATATATATATATATTT
TTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8789301
chr1:8789301 A
A
 AAAAAAAA
others(14): Show 
AAAAAAAAAAAAAAATATATAT
 1 a0001c0002t0005g0131
a0001c0002t0005g0131
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.-145+27858_-145+27
others(27): Show 
c.-145+27858_-145+27859insATATATATTTTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8789301
chr1:8789301 A
A
 AAAAAAAA
others(7): Show 
AAAAAAAAAAAAAAT
 1 a0001c0014t0002g0191
a0001c0014t0002g0191
 1 HG01361.hp1
HG01361.hp1
 intron_variant MODIFIER c.-145+27858_-145+27
others(20): Show 
c.-145+27858_-145+27859insATTTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8789301
chr1:8789301 A
A
 AAAAAAAA
others(13): Show 
AAAAAAAAAAAAAATATATAT
 2 a0001c0004t0010g0120
a0001c0004t0022g0121
a0001c0004t0010g0120
a0001c0004t0022g0121
 2 HG01167.hp1
HG02257.hp1
HG01167.hp1
HG02257.hp1
 intron_variant MODIFIER c.-145+27858_-145+27
others(26): Show 
c.-145+27858_-145+27859insATATATATTTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8789301
chr1:8789301 A
A
 AAAAAAAA
others(23): Show 
AAAAAAAAAAAAAATATATATATATATATAT
 1 a0001c0004t0014g0126
a0001c0004t0014g0126
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.-145+27858_-145+27
others(36): Show 
c.-145+27858_-145+27859insATATATATATATATATATTTTTTT
TTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8789301
chr1:8789301 A
A
 AAAAAAAA
others(33): Show 
AAAAAAAAAAAAAATATATATATATATATATATATATATAT
 1 a0001c0002t0005g0110
a0001c0002t0005g0110
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.-145+27858_-145+27
others(46): Show 
c.-145+27858_-145+27859insATATATATATATATATATATATAT
ATATTTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8789301
chr1:8789301 A
A
 AAAAAAAA
others(6): Show 
AAAAAAAAAAAAAT
 5 a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0002t0002g0149
others(2): Show 
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0002t0002g0149
a0001c0002t0002g0180
a0001c0003t0011g0112
 5 HG02080.hp2
HG02602.hp1
HG02683.hp2
others(2): Show 
HG02080.hp2
HG02602.hp1
HG02683.hp2
HG03225.hp2
NA20300.hp2
 intron_variant MODIFIER c.-145+27858_-145+27
others(19): Show 
c.-145+27858_-145+27859insATTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8789301
chr1:8789301 A
A
 AAAAAAAA
others(20): Show 
AAAAAAAAAAAAATATATATATATATAT
 1 a0001c0001t0003g0118
a0001c0001t0003g0118
 1 HG02523.hp2
HG02523.hp2
 intron_variant MODIFIER c.-145+27858_-145+27
others(33): Show 
c.-145+27858_-145+27859insATATATATATATATATTTTTTTTT
TTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8789301
chr1:8789301 A
A
 AAAAAAAA
others(22): Show 
AAAAAAAAAAAAATATATATATATATATAT
 1 a0001c0002t0005g0114
a0001c0002t0005g0114
 1 HG02004.hp1
HG02004.hp1
 intron_variant MODIFIER c.-145+27858_-145+27
others(35): Show 
c.-145+27858_-145+27859insATATATATATATATATATTTTTTT
TTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8789301
chr1:8789301 A
A
 AAAAAAAA
others(13): Show 
AAAAAAAAAAAATATATATAT
 1 a0007c0020t0039g0197
a0007c0020t0039g0197
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.-145+27858_-145+27
others(26): Show 
c.-145+27858_-145+27859insATATATATATTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8789301
chr1:8789301 A
A
 AAAAAAAA
others(4): Show 
AAAAAAAAAAAT
 7 a0001c0002t0002g0150
a0001c0002t0002g0152
a0001c0002t0002g0161
others(4): Show 
a0001c0002t0002g0150
a0001c0002t0002g0152
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0179
 7 HG01981.hp2
HG02027.hp2
HG02129.hp1
others(4): Show 
HG01981.hp2
HG02027.hp2
HG02129.hp1
HG02559.hp2
HG03516.hp2
HG03540.hp1
NA19085.hp1
 intron_variant MODIFIER c.-145+27858_-145+27
others(17): Show 
c.-145+27858_-145+27859insATTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8789301
chr1:8789301 A
A
 AAAAAAAA
others(6): Show 
AAAAAAAAAAATAT
 1 a0001c0002t0002g0176
a0001c0002t0002g0176
 1 NA18967.hp2
NA18967.hp2
 intron_variant MODIFIER c.-145+27858_-145+27
others(19): Show 
c.-145+27858_-145+27859insATATTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8789301
chr1:8789301 A
A
 AAAAAAAA
others(14): Show 
AAAAAAAAAAATATATATATAT
 1 a0001c0004t0040g0199
a0001c0004t0040g0199
 1 HG02970.hp2
HG02970.hp2
 intron_variant MODIFIER c.-145+27858_-145+27
others(27): Show 
c.-145+27858_-145+27859insATATATATATATTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8789301
chr1:8789301 A
A
 AAAAAAAA
others(20): Show 
AAAAAAAAAAATATATATATATATATAT
 1 a0001c0016t0020g0001
a0001c0016t0020g0001
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.-145+27858_-145+27
others(33): Show 
c.-145+27858_-145+27859insATATATATATATATATATTTTTTT
TTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8789301
chr1:8789301 A
A
 AAAAAAAA
others(3): Show 
AAAAAAAAAAT
 1 a0001c0004t0010g0107
a0001c0004t0010g0107
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.-145+27858_-145+27
others(16): Show 
c.-145+27858_-145+27859insATTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8789301
chr1:8789301 A
A
 AAAAAAAA
others(17): Show 
AAAAAAAAAATATATATATATATAT
 1 a0005c0013t0029g0111
a0005c0013t0029g0111
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.-145+27858_-145+27
others(30): Show 
c.-145+27858_-145+27859insATATATATATATATATTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8789301
chr1:8789301 A
A
 AAAAAAAA
others(16): Show 
AAAAAAAAATATATATATATATAT
 1 a0001c0004t0010g0142
a0001c0004t0010g0142
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.-145+27858_-145+27
others(29): Show 
c.-145+27858_-145+27859insATATATATATATATATTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8789301
chr1:8789301 A
A
 AAAAAAAA
others(7): Show 
AAAAAAAATATATAT
 1 a0001c0005t0009g0200
a0001c0005t0009g0200
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.-145+27858_-145+27
others(20): Show 
c.-145+27858_-145+27859insATATATATTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8789301
chr1:8789301 A
A
 AAAAAAAA
others(9): Show 
AAAAAAAATATATATAT
 1 a0001c0005t0009g0204
a0001c0005t0009g0204
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.-145+27858_-145+27
others(22): Show 
c.-145+27858_-145+27859insATATATATATTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8789301
chr1:8789301 A
A
 AAAAAATA
others(9): Show 
AAAAAATATATATATAT
 2 a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0202
a0001c0005t0009g0203
 2 HG02109.hp1
HG03209.hp1
HG02109.hp1
HG03209.hp1
 intron_variant MODIFIER c.-145+27858_-145+27
others(22): Show 
c.-145+27858_-145+27859insATATATATATATTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8789301
chr1:8789301 A
A
 AAAAAATA
others(11): Show 
AAAAAATATATATATATAT
 1 a0001c0005t0009g0201
a0001c0005t0009g0201
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.-145+27858_-145+27
others(24): Show 
c.-145+27858_-145+27859insATATATATATATATTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8789301
chr1:8789301 A
A
 AAAAAATA
others(13): Show 
AAAAAATATATATATATATAT
 1 a0001c0003t0011g0108
a0001c0003t0011g0108
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.-145+27858_-145+27
others(26): Show 
c.-145+27858_-145+27859insATATATATATATATATTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8789301
chr1:8789301 A
A
 AAAAATAT
others(4): Show 
AAAAATATATAT
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.-145+27858_-145+27
others(17): Show 
c.-145+27858_-145+27859insATATATATTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8789301
chr1:8789301 A
A
 AAATATAT
others(14): Show 
AAATATATATATATATATATAT
 1 a0001c0004t0003g0109
a0001c0004t0003g0109
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.-145+27858_-145+27
others(27): Show 
c.-145+27858_-145+27859insATATATATATATATATATATT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8789301
chr1:8789301 A
A
 AAATATAT
others(18): Show 
AAATATATATATATATATATATATAT
 1 a0001c0002t0002g0157
a0001c0002t0002g0157
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.-145+27858_-145+27
others(31): Show 
c.-145+27858_-145+27859insATATATATATATATATATATATAT
T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8789301
chr1:8789301 A
A
 T
T
 78 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(75): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0036g0194
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0015t0001g0009
a0001c0018t0001g0005
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
 78 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(75): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01496.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02293.hp1
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03471.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-145+27859T>A
c.-145+27859T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8789301
chr1:8789303 T
T
 A
A
 4 a0001c0002t0035g0160
a0001c0003t0011g0096
a0001c0009t0041g0198
others(1): Show 
a0001c0002t0035g0160
a0001c0003t0011g0096
a0001c0009t0041g0198
a0001c0023t0002g0175
 4 HG02074.hp1
HG02145.hp1
HG03669.hp2
others(1): Show 
HG02074.hp1
HG02145.hp1
HG03669.hp2
NA18939.hp2
 intron_variant MODIFIER c.-145+27857A>T
c.-145+27857A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8789303
chr1:8789305 T
T
 A
A
 1 a0001c0009t0041g0198
a0001c0009t0041g0198
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.-145+27855A>T
c.-145+27855A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8789305
chr1:8789642 C
C
 G
G
 1 a0001c0002t0005g0116
a0001c0002t0005g0116
 1 HG00639.hp1
HG00639.hp1
 intron_variant MODIFIER c.-145+27518G>C
c.-145+27518G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8789642
chr1:8789794 G
G
 A
A
 2 a0001c0001t0003g0093
a0001c0004t0003g0092
a0001c0001t0003g0093
a0001c0004t0003g0092
 2 HG01433.hp1
NA18964.hp1
HG01433.hp1
NA18964.hp1
 intron_variant MODIFIER c.-145+27366C>T
c.-145+27366C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8789794
chr1:8789812 A
A
 T
T
 1 a0001c0001t0006g0153
a0001c0001t0006g0153
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.-145+27348T>A
c.-145+27348T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8789812
chr1:8790175 C
C
 A
A
 1 a0001c0001t0003g0104
a0001c0001t0003g0104
 1 HG00609.hp1
HG00609.hp1
 intron_variant MODIFIER c.-145+26985G>T
c.-145+26985G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8790175
chr1:8790355 T
T
 A
A
 18 a0001c0001t0003g0122
a0001c0002t0005g0125
a0001c0002t0005g0128
others(15): Show 
a0001c0001t0003g0122
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0005t0026g0127
a0001c0016t0020g0001
a0009c0021t0003g0135
 18 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(15): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02559.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02965.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp2
HG03579.hp2
NA18906.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.-145+26805A>T
c.-145+26805A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8790355
chr1:8790650 C
C
 A
A
 81 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(78): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0036g0194
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0018t0001g0005
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0031
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
 81 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(78): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01496.hp2
HG01884.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02976.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03471.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-145+26510G>T
c.-145+26510G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8790650
chr1:8790950 C
C
 T
T
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.-145+26210G>A
c.-145+26210G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8790950
chr1:8791024 G
G
 A
A
 1 a0001c0004t0014g0126
a0001c0004t0014g0126
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.-145+26136C>T
c.-145+26136C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8791024
chr1:8791527 T
T
 C
C
 1 a0001c0002t0005g0116
a0001c0002t0005g0116
 1 HG00639.hp1
HG00639.hp1
 intron_variant MODIFIER c.-145+25633A>G
c.-145+25633A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8791527
chr1:8791597 T
T
 C
C
 1 a0001c0001t0001g0037
a0001c0001t0001g0037
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.-145+25563A>G
c.-145+25563A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8791597
chr1:8791768 C
C
 T
T
 1 a0001c0002t0002g0180
a0001c0002t0002g0180
 1 HG02080.hp2
HG02080.hp2
 intron_variant MODIFIER c.-145+25392G>A
c.-145+25392G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8791768
chr1:8791816 TAA
TAA
 T
T
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.-145+25342_-145+25
others(8): Show 
c.-145+25342_-145+25343delTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8791816
chr1:8791870 T
T
 A
A
 10 a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
others(7): Show 
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0019
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0078
a0001c0003t0015g0147
 10 HG00544.hp2
HG00639.hp2
HG01358.hp2
others(7): Show 
HG00544.hp2
HG00639.hp2
HG01358.hp2
HG02280.hp2
HG02698.hp1
HG03654.hp2
NA18946.hp1
NA18973.hp1
NA19009.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-145+25290A>T
c.-145+25290A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8791870
chr1:8792139 C
C
 T
T
 1 a0001c0002t0005g0125
a0001c0002t0005g0125
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.-145+25021G>A
c.-145+25021G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8792139
chr1:8792288 T
T
 C
C
 1 a0001c0003t0004g0021
a0001c0003t0004g0021
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.-145+24872A>G
c.-145+24872A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8792288
chr1:8792303 T
T
 C
C
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-145+24857A>G
c.-145+24857A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8792303
chr1:8792602 G
G
 A
A
 3 a0001c0001t0001g0067
a0001c0001t0003g0124
a0001c0002t0013g0053
a0001c0001t0001g0067
a0001c0001t0003g0124
a0001c0002t0013g0053
 3 HG03491.hp2
HG03831.hp2
NA20905.hp1
HG03491.hp2
HG03831.hp2
NA20905.hp1
 intron_variant MODIFIER c.-145+24558C>T
c.-145+24558C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8792602
chr1:8792632 C
C
 T
T
 1 a0001c0001t0003g0087
a0001c0001t0003g0087
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.-145+24528G>A
c.-145+24528G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8792632
chr1:8792708 T
T
 C
C
 5 a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
others(2): Show 
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
 5 HG02109.hp1
HG02257.hp2
HG02818.hp1
others(2): Show 
HG02109.hp1
HG02257.hp2
HG02818.hp1
HG03209.hp1
HG03516.hp1
 intron_variant MODIFIER c.-145+24452A>G
c.-145+24452A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8792708
chr1:8792895 G
G
 A
A
 49 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0003g0087
others(46): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0003c0008t0001g0006
a0003c0008t0001g0071
a0003c0008t0001g0072
a0005c0013t0029g0111
a0008c0017t0003g0101
a0010c0027t0003g0086
 49 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(46): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00741.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02523.hp2
HG02647.hp1
HG02683.hp2
HG02723.hp1
HG02735.hp2
HG02970.hp1
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03139.hp1
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04228.hp2
HG06807.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.-145+24265C>T
c.-145+24265C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8792895
chr1:8792974 C
C
 A
A
 3 a0001c0002t0005g0110
a0001c0004t0003g0109
a0005c0013t0029g0111
a0001c0002t0005g0110
a0001c0004t0003g0109
a0005c0013t0029g0111
 3 HG02723.hp1
HG03041.hp1
NA21309.hp2
HG02723.hp1
HG03041.hp1
NA21309.hp2
 intron_variant MODIFIER c.-145+24186G>T
c.-145+24186G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8792974
chr1:8793157 C
C
 CA
CA
 19 a0001c0001t0003g0093
a0001c0002t0002g0148
a0001c0002t0002g0149
others(16): Show 
a0001c0001t0003g0093
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0157
a0001c0002t0002g0192
a0001c0002t0005g0110
a0001c0002t0005g0125
a0001c0002t0005g0134
a0001c0002t0032g0155
a0001c0002t0035g0160
a0001c0003t0011g0108
a0001c0004t0003g0109
a0001c0004t0010g0107
a0001c0004t0014g0126
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0003g0098
a0001c0009t0041g0198
a0005c0013t0029g0111
 19 HG01175.hp1
HG02145.hp1
HG02602.hp1
others(16): Show 
HG01175.hp1
HG02145.hp1
HG02602.hp1
HG02622.hp1
HG02723.hp1
HG02818.hp2
HG02965.hp2
HG03041.hp1
HG03130.hp1
HG03453.hp1
HG03453.hp2
HG03579.hp1
HG03669.hp2
HG04184.hp1
HG06807.hp2
NA18964.hp1
NA19000.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-145+24002dupT
c.-145+24002dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8793157
chr1:8793174 A
A
 AAAAG
AAAAG
 76 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(73): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0018t0001g0005
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0031
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
 76 HG00140.hp1
HG00280.hp1
HG00544.hp2
others(73): Show 
HG00140.hp1
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01496.hp2
HG01884.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02965.hp1
HG02976.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03471.hp1
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-145+23982_-145+23
others(10): Show 
c.-145+23982_-145+23985dupCTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8793174
chr1:8793177 AGAAAG
AGAAAG
 A
A
 3 a0001c0001t0001g0073
a0003c0008t0001g0071
a0003c0008t0001g0072
a0001c0001t0001g0073
a0003c0008t0001g0071
a0003c0008t0001g0072
 3 HG02647.hp1
HG03041.hp2
HG03139.hp1
HG02647.hp1
HG03041.hp2
HG03139.hp1
 intron_variant MODIFIER c.-145+23978_-145+23
others(11): Show 
c.-145+23978_-145+23982delCTTTC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8793177
chr1:8793178 G
G
 A
A
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-145+23982C>T
c.-145+23982C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8793178
chr1:8793182 G
G
 A
A
 1 a0003c0008t0001g0006
a0003c0008t0001g0006
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.-145+23978C>T
c.-145+23978C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8793182
chr1:8793310 G
G
 GA
GA
 5 a0001c0004t0005g0123
a0002c0006t0003g0139
a0002c0026t0008g0140
others(2): Show 
a0001c0004t0005g0123
a0002c0006t0003g0139
a0002c0026t0008g0140
a0004c0012t0008g0137
a0004c0012t0008g0138
 5 HG01361.hp2
HG01981.hp1
HG02602.hp2
others(2): Show 
HG01361.hp2
HG01981.hp1
HG02602.hp2
HG02976.hp2
HG03195.hp1
 intron_variant MODIFIER c.-145+23849dupT
c.-145+23849dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8793310
chr1:8793394 T
T
 C
C
 3 a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
 3 HG02280.hp1
HG02451.hp2
HG02723.hp2
HG02280.hp1
HG02451.hp2
HG02723.hp2
 intron_variant MODIFIER c.-145+23766A>G
c.-145+23766A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8793394
chr1:8793422 T
T
 G
G
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.-145+23738A>C
c.-145+23738A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8793422
chr1:8793446 G
G
 A
A
 1 a0001c0001t0016g0054
a0001c0001t0016g0054
 1 HG02293.hp1
HG02293.hp1
 intron_variant MODIFIER c.-145+23714C>T
c.-145+23714C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8793446
chr1:8793494 C
C
 T
T
 1 a0001c0003t0004g0035
a0001c0003t0004g0035
 1 HG00639.hp2
HG00639.hp2
 intron_variant MODIFIER c.-145+23666G>A
c.-145+23666G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8793494
chr1:8793867 C
C
 T
T
 9 a0001c0005t0019g0030
a0001c0010t0007g0026
a0001c0010t0007g0034
others(6): Show 
a0001c0005t0019g0030
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0005c0013t0021g0023
a0006c0025t0007g0025
 9 HG02280.hp1
HG02451.hp2
HG02647.hp2
others(6): Show 
HG02280.hp1
HG02451.hp2
HG02647.hp2
HG02723.hp2
HG02809.hp2
HG02965.hp1
HG03130.hp2
HG03471.hp1
HG03540.hp2
 intron_variant MODIFIER c.-145+23293G>A
c.-145+23293G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8793867
chr1:8794065 C
C
 CA
CA
 5 a0001c0001t0036g0194
a0001c0002t0002g0192
a0001c0004t0010g0107
others(2): Show 
a0001c0001t0036g0194
a0001c0002t0002g0192
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0007t0003g0098
 5 HG01175.hp1
HG02886.hp2
HG03453.hp2
others(2): Show 
HG01175.hp1
HG02886.hp2
HG03453.hp2
NA18985.hp2
NA19000.hp1
 intron_variant MODIFIER c.-145+23094dupT
c.-145+23094dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8794065
chr1:8794078 A
A
 AT
AT
 5 a0001c0001t0001g0075
a0001c0002t0002g0176
a0001c0002t0018g0002
others(2): Show 
a0001c0001t0001g0075
a0001c0002t0002g0176
a0001c0002t0018g0002
a0001c0010t0007g0034
a0005c0013t0021g0023
 5 HG02559.hp1
HG02965.hp1
HG03471.hp1
others(2): Show 
HG02559.hp1
HG02965.hp1
HG03471.hp1
NA18967.hp1
NA18967.hp2
 intron_variant MODIFIER c.-145+23081dupA
c.-145+23081dupA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8794078
chr1:8794079 T
T
 A
A
 40 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(37): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0004t0003g0092
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0008c0017t0003g0101
a0010c0027t0003g0086
 40 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(37): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00741.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02523.hp2
HG02683.hp2
HG02735.hp2
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04228.hp2
HG06807.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.-145+23081A>T
c.-145+23081A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8794079
chr1:8794123 C
C
 T
T
 1 a0001c0002t0002g0161
a0001c0002t0002g0161
 1 HG02027.hp2
HG02027.hp2
 intron_variant MODIFIER c.-145+23037G>A
c.-145+23037G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8794123
chr1:8794164 G
G
 A
A
 1 a0001c0003t0012g0022
a0001c0003t0012g0022
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.-145+22996C>T
c.-145+22996C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8794164
chr1:8794205 G
G
 A
A
 1 a0001c0001t0001g0076
a0001c0001t0001g0076
 1 NA19090.hp1
NA19090.hp1
 intron_variant MODIFIER c.-145+22955C>T
c.-145+22955C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8794205
chr1:8794357 C
C
 CA
CA
 74 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0038
others(71): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0093
a0001c0001t0003g0115
a0001c0001t0003g0124
a0001c0001t0006g0170
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0002t0002g0148
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0183
a0001c0002t0002g0190
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0033g0186
a0001c0003t0004g0021
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0011g0096
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0005t0026g0127
a0001c0007t0003g0098
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0016t0020g0001
a0001c0018t0001g0005
a0009c0021t0003g0135
 74 HG00140.hp2
HG00280.hp1
HG00597.hp1
others(71): Show 
HG00140.hp2
HG00280.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG01167.hp1
HG01167.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01261.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01934.hp2
HG02004.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02155.hp1
HG02165.hp2
HG02258.hp2
HG02293.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02698.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02965.hp2
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03491.hp2
HG03579.hp2
HG03669.hp1
HG03688.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp2
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18964.hp1
NA18964.hp2
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.-145+22802dupT
c.-145+22802dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8794357
chr1:8794357 C
C
 CAA
CAA
 11 a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0066
others(8): Show 
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0075
a0001c0001t0003g0122
a0001c0001t0003g0141
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0004t0022g0121
 11 HG02027.hp1
HG02109.hp2
HG02129.hp2
others(8): Show 
HG02027.hp1
HG02109.hp2
HG02129.hp2
HG02145.hp2
HG02257.hp1
HG02683.hp1
HG03471.hp2
HG03831.hp2
NA18967.hp1
NA18983.hp2
NA19000.hp2
 intron_variant MODIFIER c.-145+22801_-145+22
others(8): Show 
c.-145+22801_-145+22802dupTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8794357
chr1:8794486 C
C
 T
T
 86 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(83): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0036g0194
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0018t0001g0005
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
 86 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(83): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01496.hp2
HG01884.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03471.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-145+22674G>A
c.-145+22674G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8794486
chr1:8795130 T
T
 C
C
 202 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(199): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0157
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0002t0035g0160
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0014t0002g0191
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0001c0023t0002g0175
a0001c0024t0002g0182
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 202 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(199): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp1
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-145+22030A>G
c.-145+22030A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8795130
chr1:8795339 TC
TC
 T
T
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-145+21820delG
c.-145+21820delG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8795339
chr1:8795340 C
C
 T
T
 45 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(42): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0005c0013t0029g0111
a0008c0017t0003g0101
a0010c0027t0003g0086
 45 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(42): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00741.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02523.hp2
HG02683.hp2
HG02723.hp1
HG02735.hp2
HG03041.hp1
HG03195.hp2
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04228.hp2
HG06807.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.-145+21820G>A
c.-145+21820G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8795340
chr1:8795460 T
T
 C
C
 3 a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0002t0032g0155
a0001c0005t0034g0156
 3 HG02622.hp1
HG03130.hp1
HG03579.hp1
HG02622.hp1
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.-145+21700A>G
c.-145+21700A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8795460
chr1:8795478 A
A
 C
C
 1 a0001c0002t0005g0136
a0001c0002t0005g0136
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.-145+21682T>G
c.-145+21682T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8795478
chr1:8795648 G
G
 A
A
 3 a0001c0001t0001g0067
a0001c0001t0003g0124
a0001c0002t0013g0053
a0001c0001t0001g0067
a0001c0001t0003g0124
a0001c0002t0013g0053
 3 HG03491.hp2
HG03831.hp2
NA20905.hp1
HG03491.hp2
HG03831.hp2
NA20905.hp1
 intron_variant MODIFIER c.-145+21512C>T
c.-145+21512C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8795648
chr1:8795713 T
T
 C
C
 18 a0001c0001t0003g0122
a0001c0002t0005g0125
a0001c0002t0005g0128
others(15): Show 
a0001c0001t0003g0122
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0005t0026g0127
a0001c0016t0020g0001
a0009c0021t0003g0135
 18 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(15): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02559.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02965.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp2
HG03579.hp2
NA18906.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.-145+21447A>G
c.-145+21447A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8795713
chr1:8795723 C
C
 T
T
 2 a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0153
a0001c0001t0006g0154
 2 HG03225.hp2
NA20300.hp2
HG03225.hp2
NA20300.hp2
 intron_variant MODIFIER c.-145+21437G>A
c.-145+21437G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8795723
chr1:8795860 T
T
 G
G
 4 a0001c0001t0003g0100
a0001c0001t0003g0103
a0001c0001t0003g0104
others(1): Show 
a0001c0001t0003g0100
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0003t0011g0096
 4 HG00609.hp1
HG02074.hp1
NA19007.hp2
others(1): Show 
HG00609.hp1
HG02074.hp1
NA19007.hp2
NA19090.hp2
 intron_variant MODIFIER c.-145+21300A>C
c.-145+21300A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8795860
chr1:8795896 C
C
 T
T
 1 a0001c0001t0016g0054
a0001c0001t0016g0054
 1 HG02293.hp1
HG02293.hp1
 intron_variant MODIFIER c.-145+21264G>A
c.-145+21264G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8795896
chr1:8795935 T
T
 C
C
 1 a0001c0005t0026g0127
a0001c0005t0026g0127
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.-145+21225A>G
c.-145+21225A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8795935
chr1:8795977 C
C
 T
T
 1 a0001c0003t0011g0112
a0001c0003t0011g0112
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.-145+21183G>A
c.-145+21183G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8795977
chr1:8795982 C
C
 CA
CA
 8 a0001c0001t0003g0102
a0001c0002t0002g0193
a0001c0002t0005g0125
others(5): Show 
a0001c0001t0003g0102
a0001c0002t0002g0193
a0001c0002t0005g0125
a0001c0003t0004g0021
a0001c0003t0011g0112
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0022g0121
 8 HG01167.hp1
HG01192.hp1
HG01358.hp1
others(5): Show 
HG01167.hp1
HG01192.hp1
HG01358.hp1
HG02257.hp1
HG02683.hp2
HG03453.hp1
HG03579.hp2
HG03688.hp2
 intron_variant MODIFIER c.-145+21177dupT
c.-145+21177dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8795982
chr1:8795993 A
A
 AC
AC
 2 a0001c0001t0001g0055
a0001c0001t0001g0069
a0001c0001t0001g0055
a0001c0001t0001g0069
 2 HG04199.hp2
NA19000.hp2
HG04199.hp2
NA19000.hp2
 intron_variant MODIFIER c.-145+21166_-145+21
others(7): Show 
c.-145+21166_-145+21167insG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8795993
chr1:8795994 A
A
 C
C
 41 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0038
others(38): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0070
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0036g0194
a0001c0002t0013g0053
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0018t0001g0005
 41 HG00140.hp2
HG00280.hp1
HG00597.hp2
others(38): Show 
HG00140.hp2
HG00280.hp1
HG00597.hp2
HG00609.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01261.hp1
HG01496.hp2
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp2
HG02293.hp1
HG02486.hp2
HG02523.hp1
HG02683.hp1
HG03491.hp2
HG03688.hp1
HG03831.hp2
HG04184.hp2
NA18939.hp1
NA18944.hp1
NA18964.hp2
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.-145+21166T>G
c.-145+21166T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8795994
chr1:8795998 AC
AC
 A
A
 33 a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
others(30): Show 
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0103
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0149
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0005c0013t0029g0111
a0008c0017t0003g0101
 33 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(30): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00639.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG02004.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02523.hp2
HG02602.hp1
HG02723.hp1
HG02735.hp2
HG03041.hp1
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18993.hp2
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.-145+21161delG
c.-145+21161delG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8795998
chr1:8795999 C
C
 A
A
 163 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(160): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0102
a0001c0001t0003g0104
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0036g0194
a0001c0002t0002g0148
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0157
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0002t0033g0186
a0001c0002t0035g0160
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0098
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0014t0002g0191
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0023t0002g0175
a0001c0024t0002g0182
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
a0007c0020t0039g0197
a0009c0021t0003g0135
a0010c0027t0003g0086
 163 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(160): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp2
HG00741.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18944.hp1
NA18946.hp1
NA18946.hp2
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19085.hp1
NA19085.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-145+21161G>T
c.-145+21161G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8795999
chr1:8796000 A
A
 AC
AC
 2 a0001c0005t0009g0200
a0001c0019t0014g0119
a0001c0005t0009g0200
a0001c0019t0014g0119
 2 HG03195.hp2
HG03516.hp1
HG03195.hp2
HG03516.hp1
 intron_variant MODIFIER c.-145+21159_-145+21
others(7): Show 
c.-145+21159_-145+21160insG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8796000
chr1:8796000 A
A
 C
C
 4 a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
others(1): Show 
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
 4 HG02109.hp1
HG02257.hp2
HG02818.hp1
others(1): Show 
HG02109.hp1
HG02257.hp2
HG02818.hp1
HG03209.hp1
 intron_variant MODIFIER c.-145+21160T>G
c.-145+21160T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8796000
chr1:8796004 C
C
 A
A
 96 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0038
others(93): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0032g0155
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0018t0001g0005
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0003c0008t0001g0006
a0003c0008t0001g0071
a0003c0008t0001g0072
a0005c0013t0029g0111
a0008c0017t0003g0101
a0010c0027t0003g0086
 96 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(93): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00741.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01261.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02132.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02293.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02723.hp1
HG02735.hp2
HG02886.hp2
HG02970.hp1
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03139.hp1
HG03453.hp2
HG03491.hp1
HG03491.hp2
HG03579.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19043.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.-145+21156G>T
c.-145+21156G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8796004
chr1:8796544 A
A
 G
G
 44 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0038
others(41): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0036g0194
a0001c0002t0013g0053
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0018t0001g0005
 44 HG00140.hp2
HG00280.hp1
HG00597.hp2
others(41): Show 
HG00140.hp2
HG00280.hp1
HG00597.hp2
HG00609.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01261.hp1
HG01496.hp2
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp2
HG02293.hp1
HG02486.hp2
HG02523.hp1
HG02683.hp1
HG03491.hp2
HG03688.hp1
HG03831.hp2
HG04184.hp2
HG04199.hp2
NA18939.hp1
NA18944.hp1
NA18964.hp2
NA18967.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.-145+20616T>C
c.-145+20616T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8796544
chr1:8796563 A
A
 AT
AT
 41 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(38): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0004t0003g0092
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0008c0017t0003g0101
a0010c0027t0003g0086
 41 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(38): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00741.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02523.hp2
HG02683.hp2
HG02735.hp2
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04228.hp2
HG06807.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.-145+20596dupA
c.-145+20596dupA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8796563
chr1:8796743 T
T
 C
C
 9 a0001c0005t0019g0030
a0001c0010t0007g0026
a0001c0010t0007g0034
others(6): Show 
a0001c0005t0019g0030
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0005c0013t0021g0023
a0006c0025t0007g0025
 9 HG02280.hp1
HG02451.hp2
HG02647.hp2
others(6): Show 
HG02280.hp1
HG02451.hp2
HG02647.hp2
HG02723.hp2
HG02809.hp2
HG02965.hp1
HG03130.hp2
HG03471.hp1
HG03540.hp2
 intron_variant MODIFIER c.-145+20417A>G
c.-145+20417A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8796743
chr1:8796906 G
G
 A
A
 1 a0002c0006t0003g0094
a0002c0006t0003g0094
 1 NA19074.hp2
NA19074.hp2
 intron_variant MODIFIER c.-145+20254C>T
c.-145+20254C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8796906
chr1:8796913 C
C
 T
T
 169 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(166): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0152
a0001c0002t0002g0157
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0177
a0001c0002t0002g0179
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 169 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(166): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-145+20247G>A
c.-145+20247G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8796913
chr1:8797006 C
C
 G
G
 1 a0001c0002t0002g0148
a0001c0002t0002g0148
 1 HG04184.hp1
HG04184.hp1
 intron_variant MODIFIER c.-145+20154G>C
c.-145+20154G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8797006
chr1:8797036 C
C
 T
T
 5 a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
others(2): Show 
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
 5 HG02109.hp1
HG02257.hp2
HG02818.hp1
others(2): Show 
HG02109.hp1
HG02257.hp2
HG02818.hp1
HG03209.hp1
HG03516.hp1
 intron_variant MODIFIER c.-145+20124G>A
c.-145+20124G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8797036
chr1:8797038 G
G
 C
C
 1 a0001c0015t0001g0009
a0001c0015t0001g0009
 1 HG02896.hp1
HG02896.hp1
 intron_variant MODIFIER c.-145+20122C>G
c.-145+20122C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8797038
chr1:8797045 G
G
 A
A
 162 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(159): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 162 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(159): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-145+20115C>T
c.-145+20115C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8797045
chr1:8797088 C
C
 T
T
 1 a0001c0002t0002g0158
a0001c0002t0002g0158
 1 HG03654.hp1
HG03654.hp1
 intron_variant MODIFIER c.-145+20072G>A
c.-145+20072G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8797088
chr1:8797186 C
C
 G
G
 41 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(38): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0004t0003g0092
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0008c0017t0003g0101
a0010c0027t0003g0086
 41 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(38): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00741.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02523.hp2
HG02683.hp2
HG02735.hp2
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04228.hp2
HG06807.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.-145+19974G>C
c.-145+19974G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8797186
chr1:8797376 TA
TA
 T
T
 159 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(156): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 159 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(156): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-145+19783delT
c.-145+19783delT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8797376
chr1:8798191 T
T
 TA
TA
 3 a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
 3 HG02145.hp1
HG02970.hp2
HG06807.hp1
HG02145.hp1
HG02970.hp2
HG06807.hp1
 intron_variant MODIFIER c.-145+18968dupT
c.-145+18968dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8798191
chr1:8798206 C
C
 A
A
 1 a0001c0019t0014g0119
a0001c0019t0014g0119
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.-145+18954G>T
c.-145+18954G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8798206
chr1:8798392 C
C
 A
A
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-145+18768G>T
c.-145+18768G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8798392
chr1:8798473 C
C
 T
T
 169 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(166): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0152
a0001c0002t0002g0157
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0177
a0001c0002t0002g0179
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 169 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(166): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-145+18687G>A
c.-145+18687G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8798473
chr1:8798519 G
G
 A
A
 1 a0001c0003t0004g0012
a0001c0003t0004g0012
 1 HG00544.hp2
HG00544.hp2
 intron_variant MODIFIER c.-145+18641C>T
c.-145+18641C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8798519
chr1:8798722 T
T
 C
C
 202 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(199): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0157
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0002t0035g0160
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0014t0002g0191
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0001c0023t0002g0175
a0001c0024t0002g0182
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 202 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(199): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp1
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-145+18438A>G
c.-145+18438A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8798722
chr1:8798864 G
G
 A
A
 5 a0001c0004t0005g0123
a0002c0006t0003g0139
a0002c0026t0008g0140
others(2): Show 
a0001c0004t0005g0123
a0002c0006t0003g0139
a0002c0026t0008g0140
a0004c0012t0008g0137
a0004c0012t0008g0138
 5 HG01361.hp2
HG01981.hp1
HG02602.hp2
others(2): Show 
HG01361.hp2
HG01981.hp1
HG02602.hp2
HG02976.hp2
HG03195.hp1
 intron_variant MODIFIER c.-145+18296C>T
c.-145+18296C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8798864
chr1:8798939 G
G
 A
A
 1 a0001c0001t0001g0004
a0001c0001t0001g0004
 1 NA19074.hp1
NA19074.hp1
 intron_variant MODIFIER c.-145+18221C>T
c.-145+18221C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8798939
chr1:8799432 G
G
 C
C
 81 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(78): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0036g0194
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0018t0001g0005
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0031
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
 81 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(78): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01496.hp2
HG01884.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02976.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03471.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-145+17728C>G
c.-145+17728C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8799432
chr1:8799450 A
A
 C
C
 5 a0001c0001t0001g0073
a0001c0001t0001g0074
a0003c0008t0001g0006
others(2): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0003c0008t0001g0006
a0003c0008t0001g0071
a0003c0008t0001g0072
 5 HG02647.hp1
HG02970.hp1
HG02976.hp1
others(2): Show 
HG02647.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03139.hp1
 intron_variant MODIFIER c.-145+17710T>G
c.-145+17710T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8799450
chr1:8799508 T
T
 C
C
 1 a0001c0005t0019g0030
a0001c0005t0019g0030
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.-145+17652A>G
c.-145+17652A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8799508
chr1:8799635 A
A
 G
G
 3 a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
 3 HG02145.hp1
HG02970.hp2
HG06807.hp1
HG02145.hp1
HG02970.hp2
HG06807.hp1
 intron_variant MODIFIER c.-145+17525T>C
c.-145+17525T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8799635
chr1:8799713 C
C
 T
T
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-145+17447G>A
c.-145+17447G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8799713
chr1:8799714 G
G
 A
A
 3 a0001c0001t0001g0067
a0001c0001t0003g0124
a0001c0002t0013g0053
a0001c0001t0001g0067
a0001c0001t0003g0124
a0001c0002t0013g0053
 3 HG03491.hp2
HG03831.hp2
NA20905.hp1
HG03491.hp2
HG03831.hp2
NA20905.hp1
 intron_variant MODIFIER c.-145+17446C>T
c.-145+17446C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8799714
chr1:8799731 A
A
 G
G
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-145+17429T>C
c.-145+17429T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8799731
chr1:8799738 GT
GT
 G
G
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.-145+17421delA
c.-145+17421delA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8799738
chr1:8799821 C
C
 CT
CT
 42 a0001c0001t0001g0004
a0001c0001t0001g0038
a0001c0001t0001g0039
others(39): Show 
a0001c0001t0001g0004
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0036g0194
a0001c0002t0013g0053
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0018t0001g0005
 42 HG00140.hp2
HG00280.hp1
HG00597.hp2
others(39): Show 
HG00140.hp2
HG00280.hp1
HG00597.hp2
HG00609.hp2
HG01167.hp2
HG01169.hp2
HG01261.hp1
HG01496.hp2
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp2
HG02293.hp1
HG02486.hp2
HG02523.hp1
HG03491.hp2
HG03688.hp1
HG03831.hp2
HG04184.hp2
HG04199.hp2
NA18939.hp1
NA18944.hp1
NA18964.hp2
NA18967.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.-145+17338dupA
c.-145+17338dupA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8799821
chr1:8800015 T
T
 C
C
 1 a0001c0002t0002g0174
a0001c0002t0002g0174
 1 NA18946.hp2
NA18946.hp2
 intron_variant MODIFIER c.-145+17145A>G
c.-145+17145A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8800015
chr1:8800238 T
T
 C
C
 2 a0001c0001t0001g0013
a0001c0001t0003g0141
a0001c0001t0001g0013
a0001c0001t0003g0141
 2 HG01192.hp2
HG02683.hp1
HG01192.hp2
HG02683.hp1
 intron_variant MODIFIER c.-145+16922A>G
c.-145+16922A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8800238
chr1:8800258 C
C
 CA
CA
 75 a0001c0001t0001g0055
a0001c0001t0001g0073
a0001c0001t0001g0074
others(72): Show 
a0001c0001t0001g0055
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0161
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0112
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0026g0127
a0001c0007t0003g0084
a0001c0007t0003g0099
a0001c0009t0041g0198
a0001c0016t0020g0001
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0024g0081
a0003c0008t0001g0006
a0003c0008t0001g0071
a0003c0008t0001g0072
a0005c0013t0029g0111
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 75 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(72): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00741.hp2
HG01167.hp1
HG01175.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG02004.hp1
HG02027.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02523.hp2
HG02559.hp1
HG02647.hp1
HG02683.hp2
HG02723.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03471.hp2
HG03491.hp1
HG03516.hp1
HG03579.hp2
HG03669.hp1
HG03688.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
NA18906.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-145+16901dupT
c.-145+16901dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8800258
chr1:8800258 C
C
 CAA
CAA
 86 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(83): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0036g0194
a0001c0002t0002g0157
a0001c0002t0013g0053
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0011g0108
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0098
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0018t0001g0005
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0031
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
 86 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(83): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01496.hp2
HG01884.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02976.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03471.hp1
HG03491.hp2
HG03540.hp2
HG03579.hp1
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-145+16900_-145+16
others(8): Show 
c.-145+16900_-145+16901dupTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8800258
chr1:8800341 A
A
 G
G
 1 a0001c0001t0001g0077
a0001c0001t0001g0077
 1 NA19007.hp1
NA19007.hp1
 intron_variant MODIFIER c.-145+16819T>C
c.-145+16819T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8800341
chr1:8800384 A
A
 G
G
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-145+16776T>C
c.-145+16776T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8800384
chr1:8800527 T
T
 TA
TA
 41 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(38): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0004t0003g0092
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0008c0017t0003g0101
a0010c0027t0003g0086
 41 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(38): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00741.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02523.hp2
HG02683.hp2
HG02735.hp2
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04228.hp2
HG06807.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.-145+16632dupT
c.-145+16632dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8800527
chr1:8800679 G
G
 T
T
 3 a0001c0002t0005g0125
a0001c0004t0014g0126
a0001c0005t0026g0127
a0001c0002t0005g0125
a0001c0004t0014g0126
a0001c0005t0026g0127
 3 HG02965.hp2
HG03453.hp1
NA21309.hp1
HG02965.hp2
HG03453.hp1
NA21309.hp1
 intron_variant MODIFIER c.-145+16481C>A
c.-145+16481C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8800679
chr1:8800737 G
G
 A
A
 5 a0001c0002t0018g0002
a0001c0004t0040g0199
a0001c0009t0041g0198
others(2): Show 
a0001c0002t0018g0002
a0001c0004t0040g0199
a0001c0009t0041g0198
a0001c0016t0020g0001
a0007c0020t0039g0197
 5 HG02145.hp1
HG02559.hp1
HG02970.hp2
others(2): Show 
HG02145.hp1
HG02559.hp1
HG02970.hp2
HG06807.hp1
NA20129.hp2
 intron_variant MODIFIER c.-145+16423C>T
c.-145+16423C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8800737
chr1:8800896 C
C
 T
T
 6 a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0014
others(3): Show 
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0014
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0015g0147
 6 HG00639.hp2
HG01358.hp2
HG02280.hp2
others(3): Show 
HG00639.hp2
HG01358.hp2
HG02280.hp2
HG02698.hp1
HG03654.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-145+16264G>A
c.-145+16264G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8800896
chr1:8800996 C
C
 T
T
 1 a0001c0002t0002g0177
a0001c0002t0002g0177
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.-145+16164G>A
c.-145+16164G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8800996
chr1:8801053 G
G
 A
A
 1 a0001c0001t0001g0033
a0001c0001t0001g0033
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.-145+16107C>T
c.-145+16107C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8801053
chr1:8801124 T
T
 C
C
 1 a0001c0003t0004g0021
a0001c0003t0004g0021
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.-145+16036A>G
c.-145+16036A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8801124
chr1:8801204 C
C
 T
T
 1 a0001c0001t0003g0095
a0001c0001t0003g0095
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.-145+15956G>A
c.-145+15956G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8801204
chr1:8801214 C
C
 A
A
 1 a0001c0023t0002g0175
a0001c0023t0002g0175
 1 NA18939.hp2
NA18939.hp2
 intron_variant MODIFIER c.-145+15946G>T
c.-145+15946G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8801214
chr1:8801215 G
G
 A
A
 1 a0001c0001t0001g0073
a0001c0001t0001g0073
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.-145+15945C>T
c.-145+15945C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8801215
chr1:8801238 C
C
 T
T
 9 a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
others(6): Show 
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0009c0021t0003g0135
 9 HG01175.hp2
HG01884.hp1
HG02109.hp2
others(6): Show 
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03225.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.-145+15922G>A
c.-145+15922G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8801238
chr1:8801265 A
A
 C
C
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.-145+15895T>G
c.-145+15895T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8801265
chr1:8801273 CT
CT
 C
C
 151 a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
others(148): Show 
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0157
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0002t0035g0160
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0019t0014g0119
a0001c0022t0008g0082
a0001c0023t0002g0175
a0001c0024t0002g0182
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 151 HG00140.hp1
HG00280.hp2
HG00544.hp1
others(148): Show 
HG00140.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00741.hp1
HG00741.hp2
HG01167.hp1
HG01168.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02027.hp2
HG02074.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03831.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18964.hp1
NA18967.hp2
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp1
NA19074.hp2
NA19085.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-145+15886delA
c.-145+15886delA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8801273
chr1:8801286 T
T
 C
C
 41 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(38): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0004t0003g0092
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0008c0017t0003g0101
a0010c0027t0003g0086
 41 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(38): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00741.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02523.hp2
HG02683.hp2
HG02735.hp2
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04228.hp2
HG06807.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.-145+15874A>G
c.-145+15874A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8801286
chr1:8801427 G
G
 A
A
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-145+15733C>T
c.-145+15733C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8801427
chr1:8801818 G
G
 A
A
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-145+15342C>T
c.-145+15342C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8801818
chr1:8801907 C
C
 A
A
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-145+15253G>T
c.-145+15253G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8801907
chr1:8802339 C
C
 T
T
 202 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(199): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0157
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0192
a0001c0002t0002g0193
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0002t0035g0160
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0014t0002g0191
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0001c0023t0002g0175
a0001c0024t0002g0182
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 202 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(199): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp1
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-145+14821G>A
c.-145+14821G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8802339
chr1:8802351 T
T
 C
C
 1 a0001c0003t0004g0014
a0001c0003t0004g0014
 1 HG01358.hp2
HG01358.hp2
 intron_variant MODIFIER c.-145+14809A>G
c.-145+14809A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8802351
chr1:8802728 G
G
 C
C
 41 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(38): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0004t0003g0092
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0008c0017t0003g0101
a0010c0027t0003g0086
 41 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(38): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00741.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02523.hp2
HG02683.hp2
HG02735.hp2
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04228.hp2
HG06807.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.-145+14432C>G
c.-145+14432C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8802728
chr1:8802953 T
T
 C
C
 1 a0001c0016t0020g0001
a0001c0016t0020g0001
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.-145+14207A>G
c.-145+14207A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8802953
chr1:8803174 T
T
 G
G
 5 a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
others(2): Show 
a0001c0002t0002g0187
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0014t0002g0191
 5 HG01168.hp1
HG01169.hp1
HG01255.hp2
others(2): Show 
HG01168.hp1
HG01169.hp1
HG01255.hp2
HG01361.hp1
HG04228.hp1
 intron_variant MODIFIER c.-145+13986A>C
c.-145+13986A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8803174
chr1:8803311 T
T
 C
C
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-145+13849A>G
c.-145+13849A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8803311
chr1:8803394 C
C
 T
T
 81 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(78): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0036g0194
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0018t0001g0005
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0031
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
 81 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(78): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01496.hp2
HG01884.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02976.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03471.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-145+13766G>A
c.-145+13766G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8803394
chr1:8803441 G
G
 A
A
 1 a0001c0015t0001g0009
a0001c0015t0001g0009
 1 HG02896.hp1
HG02896.hp1
 intron_variant MODIFIER c.-145+13719C>T
c.-145+13719C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8803441
chr1:8803456 G
G
 A
A
 1 a0003c0008t0001g0031
a0003c0008t0001g0031
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.-145+13704C>T
c.-145+13704C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8803456
chr1:8803593 T
T
 C
C
 2 a0001c0002t0002g0157
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0005t0034g0156
 2 HG02622.hp1
HG03130.hp1
HG02622.hp1
HG03130.hp1
 intron_variant MODIFIER c.-145+13567A>G
c.-145+13567A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8803593
chr1:8803605 A
A
 T
T
 49 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0003g0087
others(46): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0003c0008t0001g0006
a0003c0008t0001g0071
a0003c0008t0001g0072
a0005c0013t0029g0111
a0008c0017t0003g0101
a0010c0027t0003g0086
 49 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(46): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00741.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02523.hp2
HG02647.hp1
HG02683.hp2
HG02723.hp1
HG02735.hp2
HG02970.hp1
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03139.hp1
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04228.hp2
HG06807.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.-145+13555T>A
c.-145+13555T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8803605
chr1:8803676 C
C
 G
G
 1 a0001c0016t0020g0001
a0001c0016t0020g0001
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.-145+13484G>C
c.-145+13484G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8803676
chr1:8803685 C
C
 T
T
 2 a0004c0012t0008g0137
a0004c0012t0008g0138
a0004c0012t0008g0137
a0004c0012t0008g0138
 2 HG02976.hp2
HG03195.hp1
HG02976.hp2
HG03195.hp1
 intron_variant MODIFIER c.-145+13475G>A
c.-145+13475G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8803685
chr1:8803774 C
C
 T
T
 1 a0001c0001t0001g0065
a0001c0001t0001g0065
 1 HG02080.hp1
HG02080.hp1
 intron_variant MODIFIER c.-145+13386G>A
c.-145+13386G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8803774
chr1:8804108 G
G
 A
A
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.-145+13052C>T
c.-145+13052C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8804108
chr1:8804427 C
C
 T
T
 2 a0001c0001t0003g0095
a0001c0007t0003g0099
a0001c0001t0003g0095
a0001c0007t0003g0099
 2 NA20129.hp1
NA20752.hp2
NA20129.hp1
NA20752.hp2
 intron_variant MODIFIER c.-145+12733G>A
c.-145+12733G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8804427
chr1:8804430 C
C
 T
T
 18 a0001c0001t0003g0122
a0001c0002t0005g0125
a0001c0002t0005g0128
others(15): Show 
a0001c0001t0003g0122
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0005t0026g0127
a0001c0016t0020g0001
a0009c0021t0003g0135
 18 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(15): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02559.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02965.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp2
HG03579.hp2
NA18906.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.-145+12730G>A
c.-145+12730G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8804430
chr1:8804501 C
C
 A
A
 9 a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
others(6): Show 
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0009c0021t0003g0135
 9 HG01175.hp2
HG01884.hp1
HG02109.hp2
others(6): Show 
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03225.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.-145+12659G>T
c.-145+12659G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8804501
chr1:8804621 C
C
 T
T
 141 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(138): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0010c0027t0003g0086
 141 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(138): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp2
HG03471.hp1
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-145+12539G>A
c.-145+12539G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8804621
chr1:8804753 CA
CA
 C
C
 81 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(78): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0036g0194
a0001c0002t0013g0053
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0018t0001g0005
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0031
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
 81 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(78): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01496.hp2
HG01884.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02976.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03471.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-145+12406delT
c.-145+12406delT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8804753
chr1:8804774 T
T
 TTGAA
TTGAA
 5 a0001c0001t0001g0073
a0001c0001t0001g0074
a0003c0008t0001g0006
others(2): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0003c0008t0001g0006
a0003c0008t0001g0071
a0003c0008t0001g0072
 5 HG02647.hp1
HG02970.hp1
HG02976.hp1
others(2): Show 
HG02647.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03139.hp1
 intron_variant MODIFIER c.-145+12382_-145+12
others(10): Show 
c.-145+12382_-145+12385dupTTCA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8804774
chr1:8804787 C
C
 A
A
 5 a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
others(2): Show 
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
 5 HG02109.hp1
HG02257.hp2
HG02818.hp1
others(2): Show 
HG02109.hp1
HG02257.hp2
HG02818.hp1
HG03209.hp1
HG03516.hp1
 intron_variant MODIFIER c.-145+12373G>T
c.-145+12373G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8804787
chr1:8805001 G
G
 T
T
 6 a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0023g0113
others(3): Show 
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0023g0113
a0001c0001t0031g0144
a0001c0004t0010g0107
a0001c0004t0027g0106
 6 HG00544.hp1
HG02523.hp2
HG02886.hp2
others(3): Show 
HG00544.hp1
HG02523.hp2
HG02886.hp2
HG03453.hp2
NA18973.hp2
NA18993.hp2
 intron_variant MODIFIER c.-145+12159C>A
c.-145+12159C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8805001
chr1:8805005 TTG
TTG
 T
T
 5 a0001c0001t0001g0073
a0001c0001t0001g0074
a0003c0008t0001g0006
others(2): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0003c0008t0001g0006
a0003c0008t0001g0071
a0003c0008t0001g0072
 5 HG02647.hp1
HG02970.hp1
HG02976.hp1
others(2): Show 
HG02647.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03139.hp1
 intron_variant MODIFIER c.-145+12153_-145+12
others(8): Show 
c.-145+12153_-145+12154delCA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8805005
chr1:8805006 TG
TG
 T
T
 57 a0001c0001t0001g0004
a0001c0001t0001g0033
a0001c0001t0001g0037
others(54): Show 
a0001c0001t0001g0004
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0006g0184
a0001c0001t0036g0194
a0001c0002t0005g0114
a0001c0002t0013g0053
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0012g0022
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0005t0019g0030
a0001c0007t0003g0098
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0018t0001g0005
a0002c0006t0003g0097
a0003c0008t0001g0031
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0010c0027t0003g0086
 57 HG00140.hp2
HG00280.hp1
HG00609.hp2
others(54): Show 
HG00140.hp2
HG00280.hp1
HG00609.hp2
HG00741.hp2
HG01167.hp2
HG01169.hp2
HG01261.hp1
HG01496.hp2
HG01884.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02165.hp2
HG02258.hp2
HG02280.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02647.hp2
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG03041.hp1
HG03130.hp2
HG03139.hp2
HG03471.hp1
HG03540.hp2
HG03688.hp1
HG03831.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18944.hp1
NA18944.hp2
NA18964.hp2
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.-145+12153delC
c.-145+12153delC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8805006
chr1:8805006 TGG
TGG
 T
T
 34 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(31): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0003t0011g0112
a0001c0004t0003g0092
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0024g0081
a0008c0017t0003g0101
 34 HG00280.hp2
HG00544.hp1
HG00609.hp1
others(31): Show 
HG00280.hp2
HG00544.hp1
HG00609.hp1
HG00639.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02523.hp2
HG02683.hp2
HG02735.hp2
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04228.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18993.hp2
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.-145+12152_-145+12
others(8): Show 
c.-145+12152_-145+12153delCC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8805006
chr1:8805007 G
G
 GT
GT
 4 a0001c0002t0002g0157
a0001c0002t0018g0002
a0002c0006t0003g0139
others(1): Show 
a0001c0002t0002g0157
a0001c0002t0018g0002
a0002c0006t0003g0139
a0004c0012t0008g0137
 4 HG01361.hp2
HG02559.hp1
HG03130.hp1
others(1): Show 
HG01361.hp2
HG02559.hp1
HG03130.hp1
HG03195.hp1
 intron_variant MODIFIER c.-145+12152_-145+12
others(7): Show 
c.-145+12152_-145+12153insA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8805007
chr1:8805007 G
G
 T
T
 6 a0001c0001t0003g0115
a0001c0002t0005g0110
a0001c0004t0003g0109
others(3): Show 
a0001c0001t0003g0115
a0001c0002t0005g0110
a0001c0004t0003g0109
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0019t0014g0119
 6 HG00597.hp1
HG02723.hp1
HG02886.hp2
others(3): Show 
HG00597.hp1
HG02723.hp1
HG02886.hp2
HG03195.hp2
HG03453.hp2
NA21309.hp2
 intron_variant MODIFIER c.-145+12153C>A
c.-145+12153C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8805007
chr1:8805007 GGT
GGT
 G
G
 9 a0001c0001t0003g0124
a0001c0004t0040g0199
a0001c0005t0009g0200
others(6): Show 
a0001c0001t0003g0124
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 9 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(6): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03491.hp2
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.-145+12151_-145+12
others(8): Show 
c.-145+12151_-145+12152delAC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8805007
chr1:8805008 G
G
 GT
GT
 9 a0001c0001t0006g0181
a0001c0002t0002g0150
a0001c0002t0002g0152
others(6): Show 
a0001c0001t0006g0181
a0001c0002t0002g0150
a0001c0002t0002g0152
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0180
a0001c0002t0035g0160
 9 HG01981.hp2
HG02027.hp2
HG02080.hp2
others(6): Show 
HG01981.hp2
HG02027.hp2
HG02080.hp2
HG03209.hp2
HG03540.hp1
HG03669.hp2
HG04115.hp1
NA18967.hp2
NA20752.hp1
 intron_variant MODIFIER c.-145+12151dupA
c.-145+12151dupA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8805008
chr1:8805008 G
G
 T
T
 64 a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0040
others(61): Show 
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0040
a0001c0001t0001g0064
a0001c0001t0001g0075
a0001c0001t0003g0115
a0001c0001t0003g0122
a0001c0001t0003g0141
a0001c0001t0016g0054
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0078
a0001c0003t0008g0105
a0001c0003t0011g0108
a0001c0003t0012g0018
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0003g0109
a0001c0004t0005g0123
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0027g0106
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0098
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0016t0020g0001
a0001c0019t0014g0119
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0026t0008g0140
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0029g0111
a0009c0021t0003g0135
a0010c0027t0003g0086
 64 HG00140.hp1
HG00544.hp2
HG00597.hp1
others(61): Show 
HG00140.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01168.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01358.hp2
HG01361.hp2
HG01884.hp1
HG01981.hp1
HG02004.hp1
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02258.hp1
HG02280.hp2
HG02293.hp1
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02698.hp1
HG02723.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02965.hp2
HG02976.hp2
HG03041.hp1
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03831.hp1
HG04115.hp2
HG06807.hp2
NA18906.hp2
NA18939.hp1
NA18944.hp2
NA18946.hp1
NA18967.hp1
NA18973.hp1
NA18985.hp1
NA19000.hp1
NA19009.hp2
NA20129.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-145+12152C>A
c.-145+12152C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8805008
chr1:8805013 T
T
 G
G
 1 a0005c0013t0029g0111
a0005c0013t0029g0111
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.-145+12147A>C
c.-145+12147A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8805013
chr1:8805015 T
T
 G
G
 3 a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
 3 HG02145.hp1
HG02970.hp2
HG06807.hp1
HG02145.hp1
HG02970.hp2
HG06807.hp1
 intron_variant MODIFIER c.-145+12145A>C
c.-145+12145A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8805015
chr1:8805096 G
G
 A
A
 2 a0001c0004t0010g0120
a0001c0004t0022g0121
a0001c0004t0010g0120
a0001c0004t0022g0121
 2 HG01167.hp1
HG02257.hp1
HG01167.hp1
HG02257.hp1
 intron_variant MODIFIER c.-145+12064C>T
c.-145+12064C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8805096
chr1:8805406 T
T
 C
C
 2 a0001c0002t0002g0157
a0001c0005t0034g0156
a0001c0002t0002g0157
a0001c0005t0034g0156
 2 HG02622.hp1
HG03130.hp1
HG02622.hp1
HG03130.hp1
 intron_variant MODIFIER c.-145+11754A>G
c.-145+11754A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8805406
chr1:8805438 G
G
 C
C
 162 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(159): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 162 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(159): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-145+11722C>G
c.-145+11722C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8805438
chr1:8805464 C
C
 G
G
 1 a0001c0001t0001g0015
a0001c0001t0001g0015
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.-145+11696G>C
c.-145+11696G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8805464
chr1:8805580 C
C
 T
T
 42 a0001c0001t0001g0004
a0001c0001t0001g0038
a0001c0001t0001g0039
others(39): Show 
a0001c0001t0001g0004
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0124
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0036g0194
a0001c0002t0013g0053
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0018t0001g0005
 42 HG00140.hp2
HG00280.hp1
HG00597.hp2
others(39): Show 
HG00140.hp2
HG00280.hp1
HG00597.hp2
HG00609.hp2
HG01167.hp2
HG01169.hp2
HG01261.hp1
HG01496.hp2
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp2
HG02293.hp1
HG02486.hp2
HG02523.hp1
HG03491.hp2
HG03688.hp1
HG03831.hp2
HG04184.hp2
HG04199.hp2
NA18939.hp1
NA18944.hp1
NA18964.hp2
NA18967.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19070.hp2
NA19074.hp1
NA19085.hp2
NA19090.hp1
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.-145+11580G>A
c.-145+11580G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8805580
chr1:8805649 C
C
 CA
CA
 20 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0030g0143
others(17): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0030g0143
a0001c0002t0002g0148
a0001c0002t0002g0157
a0001c0002t0002g0159
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0078
a0001c0003t0017g0032
a0001c0004t0003g0109
a0001c0005t0034g0156
a0001c0007t0003g0098
a0001c0009t0041g0198
a0001c0014t0002g0191
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0071
a0003c0008t0001g0072
 20 HG01361.hp1
HG01361.hp2
HG01981.hp1
others(17): Show 
HG01361.hp1
HG01361.hp2
HG01981.hp1
HG02145.hp1
HG02155.hp2
HG02622.hp1
HG02647.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp1
HG03579.hp1
HG03654.hp2
HG04115.hp2
HG04184.hp1
NA19000.hp1
NA19009.hp2
NA20752.hp1
NA21309.hp2
 intron_variant MODIFIER c.-145+11510dupT
c.-145+11510dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8805649
chr1:8805660 A
A
 C
C
 18 a0001c0001t0003g0122
a0001c0002t0005g0125
a0001c0002t0005g0128
others(15): Show 
a0001c0001t0003g0122
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0005t0026g0127
a0001c0016t0020g0001
a0009c0021t0003g0135
 18 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(15): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02559.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02965.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp2
HG03579.hp2
NA18906.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.-145+11500T>G
c.-145+11500T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8805660
chr1:8805844 C
C
 CT
CT
 5 a0001c0001t0001g0039
a0001c0001t0001g0076
a0001c0002t0002g0149
others(2): Show 
a0001c0001t0001g0039
a0001c0001t0001g0076
a0001c0002t0002g0149
a0001c0002t0002g0157
a0001c0002t0002g0176
 5 HG02004.hp2
HG02602.hp1
HG03130.hp1
others(2): Show 
HG02004.hp2
HG02602.hp1
HG03130.hp1
NA18967.hp2
NA19090.hp1
 intron_variant MODIFIER c.-145+11315dupA
c.-145+11315dupA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8805844
chr1:8805844 CT
CT
 C
C
 57 a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0055
others(54): Show 
a0001c0001t0001g0015
a0001c0001t0001g0037
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0069
a0001c0001t0003g0100
a0001c0001t0016g0054
a0001c0002t0005g0110
a0001c0002t0005g0125
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0068
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0017g0032
a0001c0004t0003g0109
a0001c0004t0005g0123
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0007t0001g0008
a0001c0007t0003g0098
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0018t0001g0005
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0031
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
 57 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(54): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01361.hp2
HG01496.hp2
HG01981.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02602.hp2
HG02622.hp2
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03471.hp1
HG03516.hp1
HG03540.hp2
HG03579.hp2
HG03688.hp1
HG03831.hp1
HG04115.hp2
HG04199.hp2
HG06807.hp1
NA18906.hp1
NA18973.hp1
NA19000.hp1
NA19000.hp2
NA19007.hp2
NA19043.hp2
NA20300.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-145+11315delA
c.-145+11315delA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8805844
chr1:8805844 CTT
CTT
 C
C
 59 a0001c0001t0001g0033
a0001c0001t0001g0073
a0001c0001t0001g0074
others(56): Show 
a0001c0001t0001g0033
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0004t0003g0092
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0010g0120
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0099
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0003c0008t0001g0006
a0003c0008t0001g0071
a0003c0008t0001g0072
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 59 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(56): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00741.hp2
HG01167.hp1
HG01175.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG02004.hp1
HG02074.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02523.hp2
HG02559.hp1
HG02647.hp1
HG02683.hp2
HG02735.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03139.hp1
HG03225.hp1
HG03471.hp2
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04228.hp2
HG06807.hp2
NA18906.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19002.hp2
NA19005.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.-145+11314_-145+11
others(8): Show 
c.-145+11314_-145+11315delAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8805844
chr1:8806147 C
C
 G
G
 1 a0001c0003t0008g0085
a0001c0003t0008g0085
 1 HG01934.hp1
HG01934.hp1
 intron_variant MODIFIER c.-145+11013G>C
c.-145+11013G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8806147
chr1:8806250 C
C
 A
A
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-145+10910G>T
c.-145+10910G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8806250
chr1:8806258 G
G
 A
A
 1 a0001c0001t0006g0181
a0001c0001t0006g0181
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.-145+10902C>T
c.-145+10902C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8806258
chr1:8806286 C
C
 G
G
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.-145+10874G>C
c.-145+10874G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8806286
chr1:8806395 G
G
 C
C
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.-145+10765C>G
c.-145+10765C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8806395
chr1:8806570 G
G
 A
A
 3 a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0031g0144
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0031g0144
 3 HG02523.hp2
NA18973.hp2
NA18993.hp2
HG02523.hp2
NA18973.hp2
NA18993.hp2
 intron_variant MODIFIER c.-145+10590C>T
c.-145+10590C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8806570
chr1:8806713 G
G
 A
A
 1 a0001c0001t0003g0122
a0001c0001t0003g0122
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.-145+10447C>T
c.-145+10447C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8806713
chr1:8806766 C
C
 T
T
 1 a0001c0016t0020g0001
a0001c0016t0020g0001
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.-145+10394G>A
c.-145+10394G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8806766
chr1:8806792 A
A
 G
G
 1 a0001c0002t0032g0155
a0001c0002t0032g0155
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.-145+10368T>C
c.-145+10368T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8806792
chr1:8806841 C
C
 T
T
 3 a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
a0001c0004t0040g0199
a0001c0009t0041g0198
a0007c0020t0039g0197
 3 HG02145.hp1
HG02970.hp2
HG06807.hp1
HG02145.hp1
HG02970.hp2
HG06807.hp1
 intron_variant MODIFIER c.-145+10319G>A
c.-145+10319G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8806841
chr1:8807127 C
C
 T
T
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-145+10033G>A
c.-145+10033G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8807127
chr1:8807242 G
G
 A
A
 39 a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
others(36): Show 
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0003g0141
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0078
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0031
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
 39 HG00140.hp1
HG00544.hp2
HG00639.hp2
others(36): Show 
HG00140.hp1
HG00544.hp2
HG00639.hp2
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01358.hp2
HG01361.hp2
HG01884.hp2
HG01981.hp1
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02602.hp2
HG02622.hp2
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02976.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03471.hp1
HG03540.hp2
HG03654.hp2
HG03831.hp1
HG04115.hp2
NA18906.hp1
NA18946.hp1
NA18973.hp1
NA19009.hp2
NA19043.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-145+9918C>T
c.-145+9918C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8807242
chr1:8807285 C
C
 T
T
 1 a0001c0002t0035g0160
a0001c0002t0035g0160
 1 HG03669.hp2
HG03669.hp2
 intron_variant MODIFIER c.-145+9875G>A
c.-145+9875G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8807285
chr1:8807306 G
G
 A
A
 3 a0001c0002t0005g0110
a0001c0004t0003g0109
a0005c0013t0029g0111
a0001c0002t0005g0110
a0001c0004t0003g0109
a0005c0013t0029g0111
 3 HG02723.hp1
HG03041.hp1
NA21309.hp2
HG02723.hp1
HG03041.hp1
NA21309.hp2
 intron_variant MODIFIER c.-145+9854C>T
c.-145+9854C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8807306
chr1:8807374 T
T
 C
C
 1 a0001c0001t0001g0033
a0001c0001t0001g0033
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.-145+9786A>G
c.-145+9786A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8807374
chr1:8807550 T
T
 C
C
 1 a0001c0004t0003g0109
a0001c0004t0003g0109
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.-145+9610A>G
c.-145+9610A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8807550
chr1:8807905 T
T
 C
C
 1 a0001c0010t0007g0034
a0001c0010t0007g0034
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.-145+9255A>G
c.-145+9255A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8807905
chr1:8807960 A
A
 G
G
 1 a0001c0003t0011g0112
a0001c0003t0011g0112
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.-145+9200T>C
c.-145+9200T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8807960
chr1:8808045 G
G
 A
A
 1 a0001c0002t0002g0177
a0001c0002t0002g0177
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.-145+9115C>T
c.-145+9115C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8808045
chr1:8808047 G
G
 C
C
 3 a0001c0002t0002g0148
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0148
a0001c0002t0002g0158
a0001c0002t0002g0159
 3 HG03654.hp1
HG04184.hp1
NA20752.hp1
HG03654.hp1
HG04184.hp1
NA20752.hp1
 intron_variant MODIFIER c.-145+9113C>G
c.-145+9113C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8808047
chr1:8808064 G
G
 A
A
 1 a0001c0002t0018g0002
a0001c0002t0018g0002
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.-145+9096C>T
c.-145+9096C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8808064
chr1:8808111 A
A
 G
G
 1 a0001c0004t0003g0109
a0001c0004t0003g0109
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.-145+9049T>C
c.-145+9049T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8808111
chr1:8808147 C
C
 CA
CA
 40 a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
others(37): Show 
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0115
a0001c0002t0002g0150
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0180
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0003t0004g0068
a0001c0003t0011g0096
a0001c0004t0003g0109
a0001c0004t0010g0120
a0001c0004t0022g0121
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0026g0127
a0001c0007t0003g0098
a0001c0009t0041g0198
a0001c0014t0002g0191
a0001c0019t0014g0119
a0002c0026t0008g0140
a0003c0008t0001g0006
a0008c0017t0003g0101
 40 HG00597.hp1
HG00597.hp2
HG00639.hp1
others(37): Show 
HG00597.hp1
HG00597.hp2
HG00639.hp1
HG01167.hp1
HG01361.hp1
HG01884.hp1
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02145.hp1
HG02257.hp1
HG02258.hp2
HG02809.hp1
HG02886.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp2
HG03491.hp1
HG03516.hp1
HG03688.hp2
HG03831.hp2
NA18967.hp1
NA18967.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp2
NA19009.hp1
NA20129.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-145+9012dupT
c.-145+9012dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8808147
chr1:8808147 C
C
 CAA
CAA
 9 a0001c0001t0003g0103
a0001c0001t0003g0122
a0001c0002t0005g0110
others(6): Show 
a0001c0001t0003g0103
a0001c0001t0003g0122
a0001c0002t0005g0110
a0001c0002t0005g0134
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0004t0010g0142
a0001c0005t0034g0156
a0009c0021t0003g0135
 9 HG01175.hp2
HG02145.hp2
HG02622.hp1
others(6): Show 
HG01175.hp2
HG02145.hp2
HG02622.hp1
HG02723.hp1
HG02818.hp2
HG03579.hp1
HG03579.hp2
NA18906.hp2
NA19090.hp2
 intron_variant MODIFIER c.-145+9011_-145+901
others(6): Show 
c.-145+9011_-145+9012dupTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8808147
chr1:8808182 A
A
 AACATAAT
others(9): Show 
AACATAATAAGAGGAAC
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-145+8977_-145+897
others(20): Show 
c.-145+8977_-145+8978insGTTCCTCTTATTATGT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8808182
chr1:8808204 T
T
 C
C
 1 a0001c0001t0003g0141
a0001c0001t0003g0141
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.-145+8956A>G
c.-145+8956A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8808204
chr1:8808347 A
A
 G
G
 47 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(44): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0005c0013t0029g0111
a0008c0017t0003g0101
a0010c0027t0003g0086
 47 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(44): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00741.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02523.hp2
HG02683.hp2
HG02723.hp1
HG02735.hp2
HG02886.hp2
HG03041.hp1
HG03195.hp2
HG03453.hp2
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04228.hp2
HG06807.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.-145+8813T>C
c.-145+8813T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8808347
chr1:8808351 A
A
 G
G
 1 a0001c0004t0003g0109
a0001c0004t0003g0109
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.-145+8809T>C
c.-145+8809T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8808351
chr1:8808690 ATAGT
ATAGT
 A
A
 16 a0001c0001t0003g0122
a0001c0002t0005g0125
a0001c0002t0005g0128
others(13): Show 
a0001c0001t0003g0122
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0005t0026g0127
a0009c0021t0003g0135
 16 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(13): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02965.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp2
HG03579.hp2
NA18906.hp2
NA21309.hp1
 intron_variant MODIFIER c.-145+8466_-145+846
others(8): Show 
c.-145+8466_-145+8469delACTA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8808690
chr1:8808697 G
G
 C
C
 1 a0001c0004t0040g0199
a0001c0004t0040g0199
 1 HG02970.hp2
HG02970.hp2
 intron_variant MODIFIER c.-145+8463C>G
c.-145+8463C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8808697
chr1:8808716 T
T
 C
C
 2 a0001c0002t0002g0151
a0001c0002t0002g0178
a0001c0002t0002g0151
a0001c0002t0002g0178
 2 HG01261.hp2
HG02293.hp2
HG01261.hp2
HG02293.hp2
 intron_variant MODIFIER c.-145+8444A>G
c.-145+8444A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8808716
chr1:8808922 A
A
 G
G
 47 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(44): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0005c0013t0029g0111
a0008c0017t0003g0101
a0010c0027t0003g0086
 47 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(44): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00741.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02523.hp2
HG02683.hp2
HG02723.hp1
HG02735.hp2
HG02886.hp2
HG03041.hp1
HG03195.hp2
HG03453.hp2
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04228.hp2
HG06807.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.-145+8238T>C
c.-145+8238T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8808922
chr1:8809044 A
A
 G
G
 12 a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
others(9): Show 
a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0001c0004t0010g0120
a0001c0004t0022g0121
a0009c0021t0003g0135
 12 HG01167.hp1
HG01175.hp2
HG01884.hp1
others(9): Show 
HG01167.hp1
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03225.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.-145+8116T>C
c.-145+8116T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8809044
chr1:8809132 T
T
 C
C
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-145+8028A>G
c.-145+8028A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8809132
chr1:8809135 C
C
 CT
CT
 3 a0001c0002t0002g0148
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0148
a0001c0002t0002g0158
a0001c0002t0002g0159
 3 HG03654.hp1
HG04184.hp1
NA20752.hp1
HG03654.hp1
HG04184.hp1
NA20752.hp1
 intron_variant MODIFIER c.-145+8024dupA
c.-145+8024dupA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8809135
chr1:8809137 T
T
 TA
TA
 9 a0001c0001t0001g0037
a0001c0001t0001g0070
a0001c0001t0006g0181
others(6): Show 
a0001c0001t0001g0037
a0001c0001t0001g0070
a0001c0001t0006g0181
a0001c0002t0002g0157
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0192
a0001c0003t0004g0035
a0001c0003t0004g0036
 9 HG00639.hp2
HG01175.hp1
HG02080.hp2
others(6): Show 
HG00639.hp2
HG01175.hp1
HG02080.hp2
HG02698.hp1
HG03130.hp1
HG03516.hp2
HG04115.hp1
NA18906.hp1
NA19009.hp1
 intron_variant MODIFIER c.-145+8022dupT
c.-145+8022dupT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8809137
chr1:8809137 TA
TA
 T
T
 11 a0001c0001t0001g0038
a0001c0001t0006g0184
a0001c0003t0004g0007
others(8): Show 
a0001c0001t0001g0038
a0001c0001t0006g0184
a0001c0003t0004g0007
a0001c0004t0005g0079
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0007t0001g0008
a0001c0015t0001g0009
 11 HG02109.hp1
HG02257.hp2
HG02523.hp1
others(8): Show 
HG02109.hp1
HG02257.hp2
HG02523.hp1
HG02735.hp2
HG02818.hp1
HG02896.hp1
HG03209.hp1
HG03516.hp1
HG03654.hp2
HG03831.hp1
NA18944.hp1
 intron_variant MODIFIER c.-145+8022delT
c.-145+8022delT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8809137
chr1:8809157 A
A
 AAAAAAAA
others(19): Show 
AAAAAAAAAAAAAAAAAAAAAAAAAAT
 1 a0001c0001t0003g0122
a0001c0001t0003g0122
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.-145+8002_-145+800
others(30): Show 
c.-145+8002_-145+8003insATTTTTTTTTTTTTTTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8809157
chr1:8809157 A
A
 AAAAAAAA
others(17): Show 
AAAAAAAAAAAAAAAAAAAAAAAAT
 1 a0009c0021t0003g0135
a0009c0021t0003g0135
 1 HG01175.hp2
HG01175.hp2
 intron_variant MODIFIER c.-145+8002_-145+800
others(28): Show 
c.-145+8002_-145+8003insATTTTTTTTTTTTTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8809157
chr1:8809157 A
A
 AAAAAAAA
others(16): Show 
AAAAAAAAAAAAAAAAAAAAAAAT
 2 a0001c0002t0005g0134
a0001c0002t0028g0133
a0001c0002t0005g0134
a0001c0002t0028g0133
 2 HG02818.hp2
NA18906.hp2
HG02818.hp2
NA18906.hp2
 intron_variant MODIFIER c.-145+8002_-145+800
others(27): Show 
c.-145+8002_-145+8003insATTTTTTTTTTTTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8809157
chr1:8809157 A
A
 AAAAAAAA
others(15): Show 
AAAAAAAAAAAAAAAAAAAAAAT
 6 a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
others(3): Show 
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0004t0022g0121
 6 HG01884.hp1
HG02109.hp2
HG02257.hp1
others(3): Show 
HG01884.hp1
HG02109.hp2
HG02257.hp1
HG02809.hp1
HG03225.hp1
HG03471.hp2
 intron_variant MODIFIER c.-145+8002_-145+800
others(26): Show 
c.-145+8002_-145+8003insATTTTTTTTTTTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8809157
chr1:8809157 A
A
 AAAAAAAA
others(14): Show 
AAAAAAAAAAAAAAAAAAAAAT
 1 a0001c0004t0010g0120
a0001c0004t0010g0120
 1 HG01167.hp1
HG01167.hp1
 intron_variant MODIFIER c.-145+8002_-145+800
others(25): Show 
c.-145+8002_-145+8003insATTTTTTTTTTTTTTTTTTTT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8809157
chr1:8809157 A
A
 AT
AT
 2 a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0010g0142
a0001c0004t0014g0126
 2 HG02965.hp2
HG03579.hp2
HG02965.hp2
HG03579.hp2
 intron_variant MODIFIER c.-145+8002_-145+800
others(5): Show 
c.-145+8002_-145+8003insA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8809157
chr1:8809157 A
A
 T
T
 1 a0001c0002t0005g0125
a0001c0002t0005g0125
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.-145+8003T>A
c.-145+8003T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8809157
chr1:8809174 G
G
 A
A
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-145+7986C>T
c.-145+7986C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8809174
chr1:8809296 A
A
 G
G
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-145+7864T>C
c.-145+7864T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8809296
chr1:8809458 C
C
 A
A
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-145+7702G>T
c.-145+7702G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8809458
chr1:8809917 A
A
 G
G
 1 a0001c0004t0003g0109
a0001c0004t0003g0109
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.-145+7243T>C
c.-145+7243T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8809917
chr1:8809993 T
T
 TTTGTTG
TTTGTTG
 3 a0001c0002t0002g0151
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0002t0002g0151
a0001c0004t0010g0107
a0001c0004t0027g0106
 3 HG01261.hp2
HG02886.hp2
HG03453.hp2
HG01261.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-145+7161_-145+716
others(10): Show 
c.-145+7161_-145+7166dupCAACAA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8809993
chr1:8810075 A
A
 G
G
 47 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(44): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0005c0013t0029g0111
a0008c0017t0003g0101
a0010c0027t0003g0086
 47 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(44): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00741.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02523.hp2
HG02683.hp2
HG02723.hp1
HG02735.hp2
HG02886.hp2
HG03041.hp1
HG03195.hp2
HG03453.hp2
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04228.hp2
HG06807.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.-145+7085T>C
c.-145+7085T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8810075
chr1:8810111 T
T
 C
C
 7 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0002t0018g0002
others(4): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0002t0018g0002
a0001c0016t0020g0001
a0003c0008t0001g0006
a0003c0008t0001g0071
a0003c0008t0001g0072
 7 HG02559.hp1
HG02647.hp1
HG02970.hp1
others(4): Show 
HG02559.hp1
HG02647.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03139.hp1
NA20129.hp2
 intron_variant MODIFIER c.-145+7049A>G
c.-145+7049A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8810111
chr1:8810160 G
G
 A
A
 10 a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
others(7): Show 
a0001c0001t0003g0122
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0028g0133
a0009c0021t0003g0135
 10 HG01175.hp2
HG01884.hp1
HG02109.hp2
others(7): Show 
HG01175.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03225.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.-145+7000C>T
c.-145+7000C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8810160
chr1:8810217 C
C
 T
T
 1 a0001c0004t0010g0142
a0001c0004t0010g0142
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.-145+6943G>A
c.-145+6943G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8810217
chr1:8810418 C
C
 A
A
 1 a0001c0001t0001g0075
a0001c0001t0001g0075
 1 NA18967.hp1
NA18967.hp1
 intron_variant MODIFIER c.-145+6742G>T
c.-145+6742G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8810418
chr1:8810564 G
G
 A
A
 1 a0001c0001t0006g0181
a0001c0001t0006g0181
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.-145+6596C>T
c.-145+6596C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8810564
chr1:8810740 G
G
 T
T
 1 a0005c0013t0029g0111
a0005c0013t0029g0111
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.-145+6420C>A
c.-145+6420C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8810740
chr1:8810811 A
A
 T
T
 1 a0001c0001t0001g0038
a0001c0001t0001g0038
 1 HG02523.hp1
HG02523.hp1
 intron_variant MODIFIER c.-145+6349T>A
c.-145+6349T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8810811
chr1:8810817 G
G
 T
T
 164 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(161): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0157
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 164 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(161): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-145+6343C>A
c.-145+6343C>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8810817
chr1:8810942 A
A
 T
T
 1 a0001c0005t0009g0201
a0001c0005t0009g0201
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.-145+6218T>A
c.-145+6218T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8810942
chr1:8811030 T
T
 C
C
 1 a0001c0024t0002g0182
a0001c0024t0002g0182
 1 HG02896.hp2
HG02896.hp2
 intron_variant MODIFIER c.-145+6130A>G
c.-145+6130A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8811030
chr1:8811155 C
C
 G
G
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-145+6005G>C
c.-145+6005G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8811155
chr1:8811254 G
G
 A
A
 2 a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0001t0037g0196
a0001c0001t0038g0195
 2 HG01515.hp1
HG01517.hp2
HG01515.hp1
HG01517.hp2
 intron_variant MODIFIER c.-145+5906C>T
c.-145+5906C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8811254
chr1:8811426 A
A
 G
G
 143 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(140): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0010c0027t0003g0086
 143 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(140): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp2
HG03471.hp1
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-145+5734T>C
c.-145+5734T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8811426
chr1:8811594 C
C
 A
A
 1 a0001c0002t0006g0145
a0001c0002t0006g0145
 1 HG03491.hp1
HG03491.hp1
 intron_variant MODIFIER c.-145+5566G>T
c.-145+5566G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8811594
chr1:8811631 G
G
 A
A
 44 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(41): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0005c0013t0029g0111
a0008c0017t0003g0101
a0010c0027t0003g0086
 44 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(41): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00741.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02523.hp2
HG02683.hp2
HG02723.hp1
HG02735.hp2
HG03041.hp1
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04228.hp2
HG06807.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.-145+5529C>T
c.-145+5529C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8811631
chr1:8811906 C
C
 T
T
 39 a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
others(36): Show 
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0003g0141
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0078
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0031
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
 39 HG00140.hp1
HG00544.hp2
HG00639.hp2
others(36): Show 
HG00140.hp1
HG00544.hp2
HG00639.hp2
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01358.hp2
HG01361.hp2
HG01884.hp2
HG01981.hp1
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02602.hp2
HG02622.hp2
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02976.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03471.hp1
HG03540.hp2
HG03654.hp2
HG03831.hp1
HG04115.hp2
NA18906.hp1
NA18946.hp1
NA18973.hp1
NA19009.hp2
NA19043.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-145+5254G>A
c.-145+5254G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8811906
chr1:8812396 C
C
 T
T
 44 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(41): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0005c0013t0029g0111
a0008c0017t0003g0101
a0010c0027t0003g0086
 44 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(41): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00741.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02523.hp2
HG02683.hp2
HG02723.hp1
HG02735.hp2
HG03041.hp1
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04228.hp2
HG06807.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.-145+4764G>A
c.-145+4764G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8812396
chr1:8812496 A
A
 T
T
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-145+4664T>A
c.-145+4664T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8812496
chr1:8812649 A
A
 AAAT
AAAT
 3 a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0004t0006g0146
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0004t0006g0146
 3 HG02683.hp2
HG06807.hp2
NA19043.hp1
HG02683.hp2
HG06807.hp2
NA19043.hp1
 intron_variant MODIFIER c.-145+4508_-145+451
others(7): Show 
c.-145+4508_-145+4510dupATT
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8812649
chr1:8812718 T
T
 G
G
 1 a0001c0001t0003g0117
a0001c0001t0003g0117
 1 NA18973.hp2
NA18973.hp2
 intron_variant MODIFIER c.-145+4442A>C
c.-145+4442A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8812718
chr1:8812754 A
A
 T
T
 1 a0001c0002t0002g0152
a0001c0002t0002g0152
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.-145+4406T>A
c.-145+4406T>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8812754
chr1:8812845 T
T
 C
C
 1 a0005c0013t0029g0111
a0005c0013t0029g0111
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.-145+4315A>G
c.-145+4315A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8812845
chr1:8812952 A
A
 C
C
 40 a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
others(37): Show 
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0003g0141
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0078
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0005g0123
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0019t0014g0119
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0031
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
 40 HG00140.hp1
HG00544.hp2
HG00639.hp2
others(37): Show 
HG00140.hp1
HG00544.hp2
HG00639.hp2
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01358.hp2
HG01361.hp2
HG01884.hp2
HG01981.hp1
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02602.hp2
HG02622.hp2
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02976.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03471.hp1
HG03540.hp2
HG03654.hp2
HG03831.hp1
HG04115.hp2
NA18906.hp1
NA18946.hp1
NA18973.hp1
NA19009.hp2
NA19043.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-145+4208T>G
c.-145+4208T>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8812952
chr1:8813309 G
G
 A
A
 3 a0001c0002t0005g0110
a0001c0004t0003g0109
a0005c0013t0029g0111
a0001c0002t0005g0110
a0001c0004t0003g0109
a0005c0013t0029g0111
 3 HG02723.hp1
HG03041.hp1
NA21309.hp2
HG02723.hp1
HG03041.hp1
NA21309.hp2
 intron_variant MODIFIER c.-145+3851C>T
c.-145+3851C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8813309
chr1:8813338 T
T
 C
C
 1 a0001c0002t0002g0183
a0001c0002t0002g0183
 1 HG01934.hp2
HG01934.hp2
 intron_variant MODIFIER c.-145+3822A>G
c.-145+3822A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8813338
chr1:8813353 C
C
 CT
CT
 3 a0001c0001t0030g0143
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0001t0030g0143
a0001c0007t0003g0084
a0001c0007t0003g0098
 3 HG02155.hp2
NA18983.hp1
NA19000.hp1
HG02155.hp2
NA18983.hp1
NA19000.hp1
 intron_variant MODIFIER c.-145+3806dupA
c.-145+3806dupA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8813353
chr1:8813508 C
C
 G
G
 1 a0001c0003t0011g0108
a0001c0003t0011g0108
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.-145+3652G>C
c.-145+3652G>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8813508
chr1:8813614 C
C
 CT
CT
 9 a0001c0001t0003g0122
a0001c0002t0002g0148
a0001c0002t0002g0149
others(6): Show 
a0001c0001t0003g0122
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0003t0008g0105
a0001c0004t0010g0120
a0001c0004t0022g0121
a0001c0005t0009g0200
 9 HG00741.hp2
HG01167.hp1
HG01261.hp2
others(6): Show 
HG00741.hp2
HG01167.hp1
HG01261.hp2
HG01981.hp2
HG02145.hp2
HG02257.hp1
HG02602.hp1
HG03516.hp1
HG04184.hp1
 intron_variant MODIFIER c.-145+3545dupA
c.-145+3545dupA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8813614
chr1:8813614 CT
CT
 C
C
 82 a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
others(79): Show 
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0103
a0001c0001t0003g0141
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0036g0194
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0049
a0001c0005t0019g0030
a0001c0007t0001g0008
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0002c0006t0003g0139
a0002c0026t0008g0140
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0006c0025t0007g0025
 82 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(79): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01361.hp2
HG01496.hp2
HG01884.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03471.hp1
HG03540.hp2
HG03654.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04199.hp2
NA18906.hp1
NA18939.hp1
NA18944.hp1
NA18946.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18983.hp2
NA18985.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19070.hp2
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-145+3545delA
c.-145+3545delA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8813614
chr1:8813662 T
T
 A
A
 1 a0001c0002t0005g0116
a0001c0002t0005g0116
 1 HG00639.hp1
HG00639.hp1
 intron_variant MODIFIER c.-145+3498A>T
c.-145+3498A>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8813662
chr1:8813668 A
A
 G
G
 195 a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
others(192): Show 
a0001c0001t0001g0004
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0003g0122
a0001c0001t0003g0124
a0001c0001t0003g0141
a0001c0001t0006g0153
a0001c0001t0006g0154
a0001c0001t0006g0170
a0001c0001t0006g0181
a0001c0001t0006g0184
a0001c0001t0016g0054
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0036g0194
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0157
a0001c0002t0002g0158
a0001c0002t0002g0159
a0001c0002t0002g0161
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0168
a0001c0002t0002g0169
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0176
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0183
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0005g0125
a0001c0002t0005g0128
a0001c0002t0005g0129
a0001c0002t0005g0130
a0001c0002t0005g0131
a0001c0002t0005g0132
a0001c0002t0005g0134
a0001c0002t0005g0136
a0001c0002t0006g0145
a0001c0002t0013g0053
a0001c0002t0018g0002
a0001c0002t0028g0133
a0001c0002t0032g0155
a0001c0002t0035g0160
a0001c0003t0004g0007
a0001c0003t0004g0010
a0001c0003t0004g0011
a0001c0003t0004g0012
a0001c0003t0004g0014
a0001c0003t0004g0017
a0001c0003t0004g0019
a0001c0003t0004g0021
a0001c0003t0004g0035
a0001c0003t0004g0036
a0001c0003t0004g0041
a0001c0003t0004g0042
a0001c0003t0004g0068
a0001c0003t0004g0078
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0003t0012g0018
a0001c0003t0012g0022
a0001c0003t0015g0147
a0001c0003t0017g0032
a0001c0004t0001g0003
a0001c0004t0001g0049
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0005g0123
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0010g0120
a0001c0004t0010g0142
a0001c0004t0014g0126
a0001c0004t0022g0121
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0005t0019g0030
a0001c0005t0026g0127
a0001c0005t0034g0156
a0001c0007t0001g0008
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0007t0004g0044
a0001c0007t0004g0047
a0001c0009t0004g0016
a0001c0009t0004g0020
a0001c0009t0041g0198
a0001c0010t0007g0026
a0001c0010t0007g0034
a0001c0010t0013g0024
a0001c0011t0007g0027
a0001c0011t0007g0028
a0001c0011t0007g0029
a0001c0015t0001g0009
a0001c0016t0020g0001
a0001c0018t0001g0005
a0001c0019t0014g0119
a0001c0022t0008g0082
a0001c0023t0002g0175
a0001c0024t0002g0182
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0003g0139
a0002c0006t0024g0081
a0002c0026t0008g0140
a0003c0008t0001g0006
a0003c0008t0001g0031
a0003c0008t0001g0071
a0003c0008t0001g0072
a0004c0012t0008g0137
a0004c0012t0008g0138
a0005c0013t0021g0023
a0005c0013t0029g0111
a0006c0025t0007g0025
a0007c0020t0039g0197
a0008c0017t0003g0101
a0009c0021t0003g0135
a0010c0027t0003g0086
 195 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(192): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp1
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01261.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18973.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-145+3492T>C
c.-145+3492T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8813668
chr1:8814183 G
G
 C
C
 1 a0002c0006t0003g0097
a0002c0006t0003g0097
 1 NA18944.hp2
NA18944.hp2
 intron_variant MODIFIER c.-145+2977C>G
c.-145+2977C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8814183
chr1:8814401 C
C
 A
A
 2 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0076
a0001c0001t0001g0077
 2 NA19007.hp1
NA19090.hp1
NA19007.hp1
NA19090.hp1
 intron_variant MODIFIER c.-145+2759G>T
c.-145+2759G>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8814401
chr1:8814404 T
T
 G
G
 1 a0001c0002t0002g0193
a0001c0002t0002g0193
 1 HG01358.hp1
HG01358.hp1
 intron_variant MODIFIER c.-145+2756A>C
c.-145+2756A>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8814404
chr1:8814772 T
T
 C
C
 1 a0001c0004t0010g0142
a0001c0004t0010g0142
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.-145+2388A>G
c.-145+2388A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8814772
chr1:8814875 C
C
 T
T
 1 a0001c0003t0015g0147
a0001c0003t0015g0147
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.-145+2285G>A
c.-145+2285G>A
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8814875
chr1:8815065 A
A
 G
G
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-145+2095T>C
c.-145+2095T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8815065
chr1:8815483 G
G
 A
A
 44 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(41): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0005c0013t0029g0111
a0008c0017t0003g0101
a0010c0027t0003g0086
 44 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(41): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00741.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02523.hp2
HG02683.hp2
HG02723.hp1
HG02735.hp2
HG03041.hp1
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04228.hp2
HG06807.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.-145+1677C>T
c.-145+1677C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8815483
chr1:8815578 G
G
 C
C
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-145+1582C>G
c.-145+1582C>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8815578
chr1:8815650 A
A
 G
G
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.-145+1510T>C
c.-145+1510T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8815650
chr1:8815829 T
T
 TTGTG
TTGTG
 3 a0001c0003t0011g0108
a0001c0004t0005g0079
a0001c0004t0025g0080
a0001c0003t0011g0108
a0001c0004t0005g0079
a0001c0004t0025g0080
 3 HG02735.hp2
HG04228.hp2
HG06807.hp2
HG02735.hp2
HG04228.hp2
HG06807.hp2
 intron_variant MODIFIER c.-145+1327_-145+133
others(8): Show 
c.-145+1327_-145+1330dupCACA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8815829
chr1:8815829 T
T
 TTGTGTG
TTGTGTG
 5 a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0004t0005g0083
others(2): Show 
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0004t0005g0083
a0001c0022t0008g0082
a0002c0006t0024g0081
 5 HG00280.hp2
HG01433.hp2
HG01515.hp1
others(2): Show 
HG00280.hp2
HG01433.hp2
HG01515.hp1
HG01517.hp2
NA19005.hp2
 intron_variant MODIFIER c.-145+1325_-145+133
others(10): Show 
c.-145+1325_-145+1330dupCACACA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8815829
chr1:8815829 T
T
 TTGTGTGT
others(1): Show 
TTGTGTGTG
 21 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(18): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0115
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0003t0008g0085
a0001c0003t0011g0096
a0001c0003t0011g0112
a0001c0004t0003g0092
a0001c0004t0006g0146
a0001c0007t0003g0084
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0010c0027t0003g0086
 21 HG00544.hp1
HG00597.hp1
HG00639.hp1
others(18): Show 
HG00544.hp1
HG00597.hp1
HG00639.hp1
HG01433.hp1
HG01496.hp1
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02683.hp2
HG03669.hp1
NA18944.hp2
NA18964.hp1
NA18983.hp1
NA18985.hp1
NA19002.hp2
NA19043.hp1
NA19074.hp2
NA20129.hp1
 intron_variant MODIFIER c.-145+1323_-145+133
others(12): Show 
c.-145+1323_-145+1330dupCACACACA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8815829
chr1:8815829 T
T
 TTGTGTGT
others(3): Show 
TTGTGTGTGTG
 5 a0001c0001t0003g0117
a0001c0001t0031g0144
a0001c0002t0006g0145
others(2): Show 
a0001c0001t0003g0117
a0001c0001t0031g0144
a0001c0002t0006g0145
a0001c0007t0003g0098
a0001c0007t0003g0099
 5 HG03491.hp1
NA18973.hp2
NA18993.hp2
others(2): Show 
HG03491.hp1
NA18973.hp2
NA18993.hp2
NA19000.hp1
NA20752.hp2
 intron_variant MODIFIER c.-145+1321_-145+133
others(14): Show 
c.-145+1321_-145+1330dupCACACACACA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8815829
chr1:8815829 T
T
 TTGTGTGT
others(5): Show 
TTGTGTGTGTGTG
 5 a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
others(2): Show 
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0118
a0008c0017t0003g0101
 5 HG02523.hp2
HG03688.hp2
NA19007.hp2
others(2): Show 
HG02523.hp2
HG03688.hp2
NA19007.hp2
NA19090.hp2
NA20905.hp2
 intron_variant MODIFIER c.-145+1319_-145+133
others(16): Show 
c.-145+1319_-145+1330dupCACACACACACA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8815829
chr1:8815829 T
T
 TTGTGTGT
others(7): Show 
TTGTGTGTGTGTGTG
 1 a0001c0001t0003g0104
a0001c0001t0003g0104
 1 HG00609.hp1
HG00609.hp1
 intron_variant MODIFIER c.-145+1330_-145+133
others(18): Show 
c.-145+1330_-145+1331insCACACACACACACA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8815829
chr1:8815829 T
T
 TTGTGTGT
others(15): Show 
TTGTGTGTGTGTGTGTGTGTGTG
 1 a0001c0003t0008g0105
a0001c0003t0008g0105
 1 HG00741.hp2
HG00741.hp2
 intron_variant MODIFIER c.-145+1330_-145+133
others(26): Show 
c.-145+1330_-145+1331insCACACACACACACACACACACA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8815829
chr1:8815839 GTGTA
GTGTA
 G
G
 8 a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
others(5): Show 
a0001c0004t0040g0199
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
a0001c0009t0041g0198
a0007c0020t0039g0197
 8 HG02109.hp1
HG02145.hp1
HG02257.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.-145+1317_-145+132
others(8): Show 
c.-145+1317_-145+1320delTACA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8815839
chr1:8815843 A
A
 ATG
ATG
 2 a0001c0002t0018g0002
a0001c0016t0020g0001
a0001c0002t0018g0002
a0001c0016t0020g0001
 2 HG02559.hp1
NA20129.hp2
HG02559.hp1
NA20129.hp2
 intron_variant MODIFIER c.-145+1315_-145+131
others(6): Show 
c.-145+1315_-145+1316dupCA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8815843
chr1:8815843 A
A
 ATGTG
ATGTG
 3 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0019t0014g0119
a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0019t0014g0119
 3 HG02886.hp2
HG03195.hp2
HG03453.hp2
HG02886.hp2
HG03195.hp2
HG03453.hp2
 intron_variant MODIFIER c.-145+1313_-145+131
others(8): Show 
c.-145+1313_-145+1316dupCACA
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8815843
chr1:8815843 A
A
 G
G
 44 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(41): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0005c0013t0029g0111
a0008c0017t0003g0101
a0010c0027t0003g0086
 44 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(41): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00741.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02523.hp2
HG02683.hp2
HG02723.hp1
HG02735.hp2
HG03041.hp1
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04228.hp2
HG06807.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.-145+1317T>C
c.-145+1317T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8815843
chr1:8815863 A
A
 G
G
 1 a0001c0003t0011g0108
a0001c0003t0011g0108
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.-145+1297T>C
c.-145+1297T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8815863
chr1:8815866 T
T
 C
C
 1 a0001c0004t0040g0199
a0001c0004t0040g0199
 1 HG02970.hp2
HG02970.hp2
 intron_variant MODIFIER c.-145+1294A>G
c.-145+1294A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8815866
chr1:8815904 TCAA
TCAA
 T
T
 2 a0001c0004t0010g0107
a0001c0004t0027g0106
a0001c0004t0010g0107
a0001c0004t0027g0106
 2 HG02886.hp2
HG03453.hp2
HG02886.hp2
HG03453.hp2
 intron_variant MODIFIER c.-145+1253_-145+125
others(7): Show 
c.-145+1253_-145+1255delTTG
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8815904
chr1:8816263 TGAA
TGAA
 T
T
 31 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(28): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0030g0143
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0004t0003g0092
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0025g0080
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0008c0017t0003g0101
a0010c0027t0003g0086
 31 HG00280.hp2
HG00609.hp1
HG00741.hp2
others(28): Show 
HG00280.hp2
HG00609.hp1
HG00741.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02735.hp2
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04228.hp2
NA18944.hp2
NA18964.hp1
NA18983.hp1
NA18985.hp1
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.-145+894_-145+896d
others(5): Show 
c.-145+894_-145+896delTTC
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8816263
chr1:8816333 A
A
 G
G
 46 a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
others(43): Show 
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0093
a0001c0001t0003g0095
a0001c0001t0003g0100
a0001c0001t0003g0102
a0001c0001t0003g0103
a0001c0001t0003g0104
a0001c0001t0003g0115
a0001c0001t0003g0117
a0001c0001t0003g0118
a0001c0001t0023g0113
a0001c0001t0030g0143
a0001c0001t0031g0144
a0001c0001t0037g0196
a0001c0001t0038g0195
a0001c0002t0005g0110
a0001c0002t0005g0114
a0001c0002t0005g0116
a0001c0002t0006g0145
a0001c0003t0008g0085
a0001c0003t0008g0105
a0001c0003t0011g0096
a0001c0003t0011g0108
a0001c0003t0011g0112
a0001c0004t0003g0092
a0001c0004t0003g0109
a0001c0004t0005g0079
a0001c0004t0005g0083
a0001c0004t0006g0146
a0001c0004t0010g0107
a0001c0004t0025g0080
a0001c0004t0027g0106
a0001c0007t0003g0084
a0001c0007t0003g0098
a0001c0007t0003g0099
a0001c0022t0008g0082
a0002c0006t0003g0089
a0002c0006t0003g0090
a0002c0006t0003g0091
a0002c0006t0003g0094
a0002c0006t0003g0097
a0002c0006t0024g0081
a0005c0013t0029g0111
a0008c0017t0003g0101
a0010c0027t0003g0086
 46 HG00280.hp2
HG00544.hp1
HG00597.hp1
others(43): Show 
HG00280.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00741.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG02004.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG02523.hp2
HG02683.hp2
HG02723.hp1
HG02735.hp2
HG02886.hp2
HG03041.hp1
HG03453.hp2
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG04228.hp2
HG06807.hp2
NA18944.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18985.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19074.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.-145+827T>C
c.-145+827T>C
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8816333
chr1:8816597 G
G
 A
A
 5 a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
others(2): Show 
a0001c0005t0009g0200
a0001c0005t0009g0201
a0001c0005t0009g0202
a0001c0005t0009g0203
a0001c0005t0009g0204
 5 HG02109.hp1
HG02257.hp2
HG02818.hp1
others(2): Show 
HG02109.hp1
HG02257.hp2
HG02818.hp1
HG03209.hp1
HG03516.hp1
 intron_variant MODIFIER c.-145+563C>T
c.-145+563C>T
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8816597
chr1:8817047 T
T
 C
C
 1 a0001c0003t0004g0078
a0001c0003t0004g0078
 1 NA19009.hp2
NA19009.hp2
 intron_variant MODIFIER c.-145+113A>G
c.-145+113A>G
RERE ENSG00000142599.20 transcript ENST00000400908.7 protein_coding 1/22 chr1 8817047

  • 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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